#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
SDF4	51150	broad.mit.edu	37	1	1153867	1153867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1153867C>T	ENST00000360001.6	-	6	1145	c.883G>A	c.(883-885)Gac>Aac	p.D295N	SDF4_ENST00000263741.7_Missense_Mutation_p.D295N			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	295	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		ACGATGCCGTCGTGGTTGGAG	0.642																																						uc001adh.3		NaN																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(883-885)GAC>AAC		stromal cell derived factor 4 isoform 2							88.0	102.0	98.0					1																	1153867		2201	4300	6501	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding	g.chr1:1153867C>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.883G>A	1.37:g.1153867C>T	ENSP00000353094:p.Asp295Asn					SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Missense_Mutation_p.D295N|SDF4_uc009vjv.2_Missense_Mutation_p.D173N|SDF4_uc009vjw.2_RNA	p.D295N	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	6	1212	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	295			EF-hand 5.|5 (Potential).		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.883G>A	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819387	0.32145	.	.	ENSG00000078808	ENST00000360001;ENST00000263741	T;T	0.63580	-0.05;2.44	4.55	2.66	0.31614	EF-hand-like domain (1);	0.152295	0.56097	N	0.000030	T	0.59280	0.2182	M	0.70842	2.15	0.80722	D	1	P;P	0.43392	0.638;0.805	B;B	0.41374	0.201;0.355	T	0.62431	-0.6856	10	0.62326	D	0.03	-30.7091	9.2445	0.37518	0.0:0.8217:0.0:0.1783	.	295;295	Q9BRK5-6;Q9BRK5	.;CAB45_HUMAN	N	295	ENSP00000353094:D295N;ENSP00000263741:D295N	ENSP00000263741:D295N	D	-	1	0	SDF4	1143730	0.954000	0.32549	0.019000	0.16419	0.043000	0.13939	2.153000	0.42282	0.896000	0.36366	0.305000	0.20034	GAC		0.642	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1		NM_016176		12	30	0	0	0	0.001855	0	12	30		
FAM132A	388581	broad.mit.edu	37	1	1178268	1178268	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1178268C>G	ENST00000330388.2	-	7	788	c.757G>C	c.(757-759)Gag>Cag	p.E253Q		NM_001014980.2	NP_001014980.1	Q5T7M4	ADIPL_HUMAN	family with sequence similarity 132, member A	253	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of glucose import (GO:0046324)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGTTGCTCTCCAGGCCTGAG	0.682																																						uc001adl.1		NaN																	0					0						c.(757-759)GAG>CAG		family with sequence similarity 132, member A							34.0	35.0	35.0					1																	1178268		2182	4286	6468	SO:0001583	missense	388581					extracellular region		g.chr1:1178268C>G	BC089443	CCDS30554.1	1p36.33	2012-03-26	2007-03-27	2007-03-27	ENSG00000184163	ENSG00000184163			32308	protein-coding gene	gene with protein product	"""adipolin"", ""adipose-derived insulin-sensitizing factor"""		"""C1q domain containing 2"""	C1QDC2		21849507	Standard	NM_001014980		Approved	MGC105127, C1QTNF12, CTRP12	uc001adl.2	Q5T7M4	OTTHUMG00000001412	ENST00000330388.2:c.757G>C	1.37:g.1178268C>G	ENSP00000329137:p.Glu253Gln						p.E253Q	NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	7	789	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	253					Q5EBL5	Missense_Mutation	SNP	ENST00000330388.2	37	c.757G>C	CCDS30554.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497753	0.44455	.	.	ENSG00000184163	ENST00000330388	T	0.47869	0.83	2.87	2.87	0.33458	Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	M	0.85299	2.745	0.46260	D	0.99895	D	0.58620	0.983	P	0.52267	0.694	T	0.66806	-0.5830	10	0.72032	D	0.01	.	9.4872	0.38937	0.0:1.0:0.0:0.0	.	253	Q5T7M4	F132A_HUMAN	Q	253	ENSP00000329137:E253Q	ENSP00000329137:E253Q	E	-	1	0	FAM132A	1168131	0.987000	0.35691	0.990000	0.47175	0.701000	0.40568	1.948000	0.40303	1.952000	0.56665	0.435000	0.28638	GAG		0.682	FAM132A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004080.4		XM_371208		3	28	0	0	0	0.009096	0	3	28		
SCNN1D	6339	broad.mit.edu	37	1	1225697	1225697	+	Missense_Mutation	SNP	C	C	T	rs137911309		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1225697C>T	ENST00000338555.2	+	10	2361	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	SCNN1D_ENST00000400928.3_Missense_Mutation_p.S406F|SCNN1D_ENST00000325425.8_Missense_Mutation_p.S472F|SCNN1D_ENST00000379116.5_Missense_Mutation_p.S570F			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	406					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	GAGACCTGCTCCTGTGGCTAC	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		19042	0.001		0.0	False		,,,				2504	0.0					uc001adu.1		NaN																	0					0						c.(1216-1218)TCC>TTC		sodium channel, nonvoltage-gated 1, delta							47.0	48.0	48.0					1																	1225697		2190	4289	6479	SO:0001583	missense	6339							g.chr1:1225697C>T	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1217C>T	1.37:g.1225697C>T	ENSP00000339504:p.Ser406Phe					SCNN1D_uc001adt.1_Missense_Mutation_p.S570F|SCNN1D_uc001adw.2_Missense_Mutation_p.S472F|SCNN1D_uc001adx.2_Missense_Mutation_p.S195F|SCNN1D_uc001adv.2_Missense_Mutation_p.S406F	p.S406F	NM_002978	NP_002969				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	12	1841	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.1217C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.16	1.557205	0.27827	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	3.13	0.805	0.18703	Na+ channel, amiloride-sensitive, conserved site (1);	2.537510	0.02370	U	0.077835	T	0.76147	0.3947	L	0.61218	1.895	0.20926	N	0.99982	D;D;D	0.76494	0.999;0.999;0.996	D;D;P	0.78314	0.991;0.979;0.804	T	0.54153	-0.8336	10	0.87932	D	0	.	6.9962	0.24784	0.0:0.539:0.3264:0.1346	.	228;406;570	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	F	437;570;406;472;406	ENSP00000368411:S570F;ENSP00000339504:S406F;ENSP00000321594:S472F;ENSP00000383717:S406F	ENSP00000321594:S472F	S	+	2	0	SCNN1D	1215560	0.999000	0.42202	0.978000	0.43139	0.083000	0.17756	-0.229000	0.09098	0.318000	0.23185	-0.700000	0.03674	TCC		0.672	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2		NM_002978		4	15	0	0	0	0.008291	0	4	15		
SCNN1D	6339	broad.mit.edu	37	1	1226989	1226989	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1226989G>A	ENST00000338555.2	+	15	3060	c.1916G>A	c.(1915-1917)tGa>tAa	p.*639*	SCNN1D_ENST00000400928.3_Silent_p.*639*|SCNN1D_ENST00000325425.8_Silent_p.*705*|SCNN1D_ENST00000379116.5_Silent_p.*803*			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	0					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CTGGACACCTGAACCAGACCT	0.677																																						uc001adu.1		NaN																	0					0						c.(1915-1917)TGA>TAA		sodium channel, nonvoltage-gated 1, delta							17.0	20.0	19.0					1																	1226989		2124	4194	6318	SO:0001819	synonymous_variant	6339							g.chr1:1226989G>A	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1916G>A	1.37:g.1226989G>A						SCNN1D_uc001adt.1_Silent_p.*803*|SCNN1D_uc001adw.2_Silent_p.*705*|SCNN1D_uc001adx.2_Silent_p.*428*|SCNN1D_uc001adv.2_Silent_p.*639*	p.*639*	NM_002978	NP_002969				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	17	2540	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Silent	SNP	ENST00000338555.2	37	c.1916G>A																																																																																					0.677	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2		NM_002978		29	17	0	0	0	0.012213	0	29	17		
PUSL1	126789	broad.mit.edu	37	1	1244841	1244841	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1244841C>T	ENST00000379031.5	+	4	408	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	ACAP3_ENST00000353662.3_5'Flank|CPSF3L_ENST00000462432.1_5'Flank|PUSL1_ENST00000470520.1_3'UTR|ACAP3_ENST00000354700.5_5'Flank	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	111					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TAGGGTCCTGCGGGCCTTCCG	0.672																																						uc001aed.2		NaN																	0				skin(1)	1						c.(331-333)CGG>TGG		pseudouridylate synthase-like 1							17.0	24.0	22.0					1																	1244841		2179	4284	6463	SO:0001583	missense	126789				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr1:1244841C>T	AK027721	CCDS20.1	1p36.33	2008-02-05			ENSG00000169972	ENSG00000169972			26914	protein-coding gene	gene with protein product						12477932	Standard	NM_153339		Approved	FLJ90811	uc001aed.3	Q8N0Z8	OTTHUMG00000003361	ENST00000379031.5:c.331C>T	1.37:g.1244841C>T	ENSP00000368318:p.Arg111Trp					ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_5'UTR|PUSL1_uc010nyi.1_5'UTR|PUSL1_uc009vjx.2_5'UTR	p.R111W	NM_153339	NP_699170	Q8N0Z8	PUSL1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	361	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	111					B4DP76|Q5TA41	Missense_Mutation	SNP	ENST00000379031.5	37	c.331C>T	CCDS20.1	.	.	.	.	.	.	.	.	.	.	c	15.55	2.866916	0.51588	.	.	ENSG00000169972	ENST00000379031	T	0.54479	0.57	4.49	2.55	0.30701	Pseudouridine synthase I, TruA, N-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	1.202230	0.05961	N	0.640634	T	0.44993	0.1320	N	0.11845	0.185	0.09310	N	0.999999	D	0.71674	0.998	P	0.53722	0.733	T	0.32534	-0.9903	10	0.48119	T	0.1	-13.9469	4.9976	0.14247	0.2161:0.6741:0.0:0.1099	.	111	Q8N0Z8	PUSL1_HUMAN	W	111	ENSP00000368318:R111W	ENSP00000368318:R111W	R	+	1	2	PUSL1	1234704	0.047000	0.20315	0.848000	0.33437	0.867000	0.49689	0.474000	0.22148	0.475000	0.27415	0.457000	0.33378	CGG		0.672	PUSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009438.1		NM_153339		6	5	0	0	0	0.001984	0	6	5		
MXRA8	54587	broad.mit.edu	37	1	1290312	1290312	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1290312G>A	ENST00000309212.6	-	5	729	c.699C>T	c.(697-699)gcC>gcT	p.A233A	MXRA8_ENST00000477278.2_Silent_p.A224A|MXRA8_ENST00000445648.2_Silent_p.A233A|MXRA8_ENST00000342753.4_Silent_p.A132A	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	233	Ig-like V-type 2.				establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGCCCGTAGGCGCGGCGCT	0.721																																						uc001aew.2		NaN																	0					0						c.(697-699)GCC>GCT		matrix-remodelling associated 8 precursor							6.0	9.0	8.0					1																	1290312		2051	4145	6196	SO:0001819	synonymous_variant	54587					integral to membrane		g.chr1:1290312G>A	BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"""Immunoglobulin superfamily / V-set domain containing"""	7542	protein-coding gene	gene with protein product	"""limitrin"""					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.699C>T	1.37:g.1290312G>A						MXRA8_uc001aex.3_Silent_p.A233A|MXRA8_uc001aey.3_Silent_p.A233A|MXRA8_uc010nyl.1_Silent_p.A233A|MXRA8_uc001aez.2_Silent_p.A132A|MXRA8_uc001afa.2_Silent_p.A224A	p.A233A	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	5	730	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	233			Ig-like V-type 2.|Extracellular (Potential).		B3KTR6|B4DE34|Q5TA39|Q96KC3	Silent	SNP	ENST00000309212.6	37	c.699C>T	CCDS24.1																																																																																				0.721	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2		NM_032348		4	8	0	0	0	0.000602	0	4	8		
CCNL2	81669	broad.mit.edu	37	1	1334489	1334489	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1334489C>T	ENST00000400809.3	-	1	203	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RP4-758J18.2_ENST00000448629.2_5'Flank|RP4-758J18.2_ENST00000576232.1_5'Flank|CCNL2_ENST00000408952.5_5'Flank|MRPL20_ENST00000493287.1_5'Flank|CCNL2_ENST00000408918.4_Silent_p.S66S|RP4-758J18.2_ENST00000444362.1_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	66					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CGAGGCCGCTCGACATGGACG	0.672																																						uc001afi.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(196-198)TCG>TCA		cyclin L2 isoform A							76.0	60.0	66.0					1																	1334489		2202	4300	6502	SO:0001819	synonymous_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1334489C>T	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.198G>A	1.37:g.1334489C>T						CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afh.2_Silent_p.S66S|CCNL2_uc001afj.2_Silent_p.S66S|CCNL2_uc001afk.2_Silent_p.S66S|LOC148413_uc001afm.2_5'Flank|LOC148413_uc001afn.1_5'Flank|LOC148413_uc009vkc.1_5'Flank|LOC148413_uc009vkd.2_5'Flank	p.S66S	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	1	230	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	66					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	c.198G>A	CCDS30557.1																																																																																				0.672	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2		NM_030937		4	36	0	0	0	0.001168	0	4	36		
ATAD3A	55210	broad.mit.edu	37	1	1459719	1459719	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1459719C>T	ENST00000378755.5	+	11	1394	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	ATAD3A_ENST00000378756.3_Missense_Mutation_p.R386W|ATAD3A_ENST00000536055.1_Missense_Mutation_p.R307W	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	434					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CCCCATGGGGCGGGAAGGCGT	0.647																																						uc001afz.1		NaN																	0				skin(1)	1						c.(1300-1302)CGG>TGG		ATPase family, AAA domain containing 3A							42.0	38.0	39.0					1																	1459719		2203	4293	6496	SO:0001583	missense	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1459719C>T	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1300C>T	1.37:g.1459719C>T	ENSP00000368030:p.Arg434Trp					ATAD3A_uc001aga.1_Missense_Mutation_p.R386W|ATAD3A_uc001agb.1_Missense_Mutation_p.R307W	p.R434W	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	11	1394	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	434					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.1300C>T	CCDS31.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	28.0|28.0	4.877588|4.877588	0.91664|0.91664	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000339113|ENST00000378756;ENST00000378755;ENST00000378759;ENST00000536055;ENST00000400830	.|D;D;D;D	.|0.93076	.|-3.16;-3.16;-3.16;-3.16	4.94|4.94	4.94|4.94	0.65067|0.65067	.|ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96691|0.96691	0.8920|0.8920	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.988;0.997	D|D	0.97210|0.97210	0.9870|0.9870	5|10	.|0.87932	.|D	.|0	.|.	13.8402|13.8402	0.63435|0.63435	0.1532:0.8468:0.0:0.0|0.1532:0.8468:0.0:0.0	.|.	.|386;434	.|D2K8Q1;Q9NVI7	.|.;ATD3A_HUMAN	V|W	371|386;434;37;307;23	.|ENSP00000368031:R386W;ENSP00000368030:R434W;ENSP00000439290:R307W;ENSP00000383631:R23W	.|ENSP00000368030:R434W	A|R	+|+	2|1	0|2	ATAD3A|ATAD3A	1449582|1449582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	4.666000|4.666000	0.61554|0.61554	2.308000|2.308000	0.77769|0.77769	0.556000|0.556000	0.70494|0.70494	GCG|CGG		0.647	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1		NM_018188		8	59	0	0	0	0.010729	0	8	59		
GNB1	2782	broad.mit.edu	37	1	1720630	1720630	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1720630C>T	ENST00000378609.4	-	10	1109	c.778G>A	c.(778-780)Gag>Aag	p.E260K		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	260					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTCATGAGCTCCTGGTCAGCA	0.527											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001aif.2		NaN																	0					0						c.(778-780)GAG>AAG		guanine nucleotide-binding protein, beta-1							101.0	93.0	96.0					1																	1720630		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1720630C>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.778G>A	1.37:g.1720630C>T	ENSP00000367872:p.Glu260Lys		OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	598	GNB1_uc009vky.2_Missense_Mutation_p.E160K	p.E260K	NM_002074	NP_002065	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	10	1110	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	260					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.778G>A	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139806	0.94560	.	.	ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606	T	0.01313	5.02	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.04497	0.0123	L	0.41027	1.25	0.80722	D	1	D	0.56746	0.977	P	0.56865	0.808	T	0.49133	-0.8971	10	0.72032	D	0.01	-3.3669	18.0832	0.89449	0.0:1.0:0.0:0.0	.	260	P62873	GBB1_HUMAN	K	260;160;260	ENSP00000367872:E260K	ENSP00000367869:E260K	E	-	1	0	GNB1	1710490	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	7.644000	0.83416	2.503000	0.84419	0.655000	0.94253	GAG		0.527	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3		NM_002074		39	31	0	0	0	0.007835	0	39	31		
GNB1	2782	broad.mit.edu	37	1	1720636	1720636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1720636C>T	ENST00000378609.4	-	10	1103	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	258					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		AGCTCCTGGTCAGCACGAAGG	0.532											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001aif.2		NaN																	0					0						c.(772-774)GAC>AAC		guanine nucleotide-binding protein, beta-1							97.0	90.0	92.0					1																	1720636		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1720636C>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.772G>A	1.37:g.1720636C>T	ENSP00000367872:p.Asp258Asn		OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	598	GNB1_uc009vky.2_Missense_Mutation_p.D158N	p.D258N	NM_002074	NP_002065	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	10	1104	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	258					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.772G>A	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805489	0.70682	.	.	ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606	T	0.01287	5.05	5.36	4.44	0.53790	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.02304	0.0071	L	0.31578	0.945	0.80722	D	1	P	0.40431	0.717	P	0.44359	0.447	T	0.63611	-0.6598	10	0.62326	D	0.03	0.8029	15.1167	0.72407	0.0:0.8578:0.1422:0.0	.	258	P62873	GBB1_HUMAN	N	258;158;258	ENSP00000367872:D258N	ENSP00000367869:D258N	D	-	1	0	GNB1	1710496	1.000000	0.71417	0.974000	0.42286	0.408000	0.30992	7.644000	0.83416	1.236000	0.43740	-0.175000	0.13238	GAC		0.532	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3		NM_002074		9	61	0	0	0	0.004482	0	9	61		
C1orf86	199990	broad.mit.edu	37	1	2125482	2125482	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:2125482C>T	ENST00000378546.4	-	2	177	c.153G>A	c.(151-153)ctG>ctA	p.L51L	C1orf86_ENST00000378545.3_Silent_p.L154L|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	51					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GATCCAGGATCAGCTCCGGGC	0.677																																						uc001aiy.2		NaN																	0					0						c.(151-153)CTG>CTA		hypothetical protein LOC199990 isoform 2							47.0	53.0	51.0					1																	2125482		2202	4300	6502	SO:0001819	synonymous_variant	199990							g.chr1:2125482C>T	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.153G>A	1.37:g.2125482C>T						C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Intron	p.L51L	NM_182533	NP_872339	Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	2	179	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	51					A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Silent	SNP	ENST00000378546.4	37	c.153G>A	CCDS38.2																																																																																				0.677	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1		NM_182533		24	58	0	0	0	0.00333	0	24	58		
MORN1	79906	broad.mit.edu	37	1	2268254	2268254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:2268254G>A	ENST00000378531.3	-	11	1245	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	358										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TCCACTCGCTGACAGGCCCCG	0.652																																						uc001ajb.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1072-1074)CAG>TAG		MORN repeat containing 1							20.0	20.0	20.0					1																	2268254		2200	4296	6496	SO:0001587	stop_gained	79906							g.chr1:2268254G>A	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.1072C>T	1.37:g.2268254G>A	ENSP00000367792:p.Gln358*					MORN1_uc009vld.2_Nonsense_Mutation_p.Q334*	p.Q358*	NM_024848	NP_079124	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	11	1093	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	358					A6NKZ6|Q8WW30|Q9H852	Nonsense_Mutation	SNP	ENST00000378531.3	37	c.1072C>T	CCDS40.1	.	.	.	.	.	.	.	.	.	.	g	24.0	4.484690	0.84854	.	.	ENSG00000116151	ENST00000378531	.	.	.	4.19	2.27	0.28462	.	0.601430	0.13990	N	0.348868	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	5.2139	0.15332	0.1076:0.0:0.6904:0.202	.	.	.	.	X	358	.	ENSP00000367792:Q358X	Q	-	1	0	MORN1	2258114	0.004000	0.15560	0.001000	0.08648	0.025000	0.11179	0.950000	0.29122	0.505000	0.28104	0.457000	0.33378	CAG		0.652	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1		NM_024848		11	15	0	0	0	0.001855	0	11	15		
FAM213B	127281	broad.mit.edu	37	1	2520475	2520475	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:2520475C>G	ENST00000378425.5	+	6	651	c.575C>G	c.(574-576)cCt>cGt	p.P192R	FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000537325.1_Missense_Mutation_p.P185R|FAM213B_ENST00000419916.2_Missense_Mutation_p.P222R|FAM213B_ENST00000444521.2_Missense_Mutation_p.P210R|FAM213B_ENST00000378424.4_Silent_p.A229A			Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B	192					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|myelin sheath (GO:0043209)	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|prostaglandin-F synthase activity (GO:0047017)										AGCGACCCGCCTCAGGTGAGC	0.682																																						uc001aju.1		NaN																	0				central_nervous_system(1)	1						c.(574-576)CCT>CGT		hypothetical protein LOC127281							35.0	36.0	36.0					1																	2520475		2203	4300	6503	SO:0001583	missense	127281				prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr1:2520475C>G	AK075273	CCDS44.1, CCDS44.2, CCDS55564.1, CCDS72690.1, CCDS72691.1	1p36.32	2011-12-08	2011-11-24	2011-11-24	ENSG00000157870	ENSG00000157870	1.11.1.20		28390	protein-coding gene	gene with protein product	"""prostamide/prostaglandin F synthase"""		"""chromosome 1 open reading frame 93"""	C1orf93		18006499	Standard	NM_152371		Approved	MGC26818	uc001ajv.2	Q8TBF2	OTTHUMG00000000847	ENST00000378425.5:c.575C>G	1.37:g.2520475C>G	ENSP00000367682:p.Pro192Arg					C1orf93_uc001ajw.1_Silent_p.A181A|C1orf93_uc001ajv.1_Missense_Mutation_p.P210R|C1orf93_uc010nzd.1_Missense_Mutation_p.P188R|C1orf93_uc010nze.1_Missense_Mutation_p.P156R|C1orf93_uc010nzf.1_Missense_Mutation_p.P155R|C1orf93_uc001ajx.1_Missense_Mutation_p.L65V	p.P192R	NM_152371	NP_689584	Q8TBF2	PGFS_HUMAN		Epithelial(90;4.76e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.19e-23)|GBM - Glioblastoma multiforme(42;1.13e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.00205)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	6	651	+	all_cancers(77;0.000167)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.97e-16)|all_lung(118;3.05e-07)|Lung NSC(185;2.8e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	192					A8K793|B3KPY3|B4DQR9|B4E0S5|B7ZAC8|B9DI90|B9DI92|J3KQD0|Q8N2H0	Missense_Mutation	SNP	ENST00000378425.5	37	c.575C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.59|12.59	1.984337|1.984337	0.35036|0.35036	.|.	.|.	ENSG00000157870|ENSG00000157870	ENST00000378427|ENST00000419916;ENST00000537325;ENST00000378425;ENST00000444521	.|T;T;T;T	.|0.75589	.|0.52;-0.95;0.64;0.41	4.44|4.44	3.52|3.52	0.40303|0.40303	.|.	.|.	.|.	.|.	.|.	D|D	0.83454|0.83454	0.5258|0.5258	.|.	.|.	.|.	0.43195|0.43195	D|D	0.995032|0.995032	.|D;B;D;D;D	.|0.89917	.|1.0;0.184;1.0;1.0;0.999	.|D;B;D;D;D	.|0.81914	.|0.994;0.057;0.995;0.992;0.957	D|D	0.83552|0.83552	0.0102|0.0102	4|8	.|0.87932	.|D	.|0	-8.8824|-8.8824	8.0534|8.0534	0.30591|0.30591	0.0:0.8881:0.0:0.1119|0.0:0.8881:0.0:0.1119	.|.	.|185;156;218;210;192	.|Q8TBF2-5;Q8TBF2-4;Q8TBF2-6;Q8TBF2-3;Q8TBF2	.|.;.;.;.;PGFS_HUMAN	V|R	211|222;185;192;210	.|ENSP00000394405:P222R;ENSP00000443605:P185R;ENSP00000367682:P192R;ENSP00000413218:P210R	.|ENSP00000367682:P192R	L|P	+|+	1|2	0|0	C1orf93|C1orf93	2510335|2510335	0.431000|0.431000	0.25546|0.25546	0.227000|0.227000	0.23927|0.23927	0.067000|0.067000	0.16453|0.16453	2.487000|2.487000	0.45268|0.45268	1.084000|1.084000	0.41184|0.41184	0.313000|0.313000	0.20887|0.20887	CTC|CCT		0.682	FAM213B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_152371		15	29	0	0	0	0.004007	0	15	29		
PRDM16	63976	broad.mit.edu	37	1	3319489	3319489	+	Missense_Mutation	SNP	G	G	C	rs200052869		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:3319489G>C	ENST00000270722.5	+	6	860	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.E271Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.E272Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.E271Q|PRDM16_ENST00000378398.3_Missense_Mutation_p.E272Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.E272Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.E271Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	271			E -> K (in CMD1LL). {ECO:0000269|PubMed:23768516}.		brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.E271Q(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCTCAAGCCCGAGGGCCTTGG	0.637			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NaN		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(811-813)GAG>CAG		PR domain containing 16 isoform 1																																				SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3319489G>C	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.811G>C	1.37:g.3319489G>C	ENSP00000270722:p.Glu271Gln					PRDM16_uc001akc.2_Missense_Mutation_p.E271Q|PRDM16_uc001akd.2_Missense_Mutation_p.E271Q|PRDM16_uc001ake.2_Missense_Mutation_p.E271Q|PRDM16_uc009vlh.2_5'UTR	p.E271Q	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	6	891	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	271					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.811G>C	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036757	0.35893	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06142	3.35;3.37;3.39;3.38;3.37;3.37;3.38;3.35;3.34	4.32	2.34	0.29019	.	0.463174	0.16770	U	0.200255	T	0.09598	0.0236	L	0.36672	1.1	0.38109	D	0.937511	P;P;P;P	0.51240	0.678;0.943;0.615;0.729	B;P;B;B	0.52066	0.251;0.689;0.146;0.334	T	0.16867	-1.0388	10	0.56958	D	0.05	.	8.5825	0.33637	0.0873:0.1544:0.7583:0.0	.	271;271;271;271	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Q	272;272;271;271;271;272;271;87;87;80	ENSP00000426975:E272Q;ENSP00000367651:E272Q;ENSP00000407968:E271Q;ENSP00000405253:E271Q;ENSP00000367643:E271Q;ENSP00000421400:E272Q;ENSP00000270722:E271Q;ENSP00000422504:E87Q;ENSP00000425796:E80Q	ENSP00000270722:E271Q	E	+	1	0	PRDM16	3309349	1.000000	0.71417	0.007000	0.13788	0.196000	0.23810	4.597000	0.61062	0.247000	0.21414	0.561000	0.74099	GAG		0.637	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3		NM_022114		11	49	0	0	0	0.010729	0	11	49		
TPRG1L	127262	broad.mit.edu	37	1	3542350	3542350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:3542350G>A	ENST00000378344.2	+	3	438	c.367G>A	c.(367-369)Gac>Aac	p.D123N	TPRG1L_ENST00000344579.5_Intron|RP11-46F15.2_ENST00000435049.1_RNA	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	123						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CTGTAAATACGACTTCATCAG	0.547																																						uc001akm.2		NaN																	0					0						c.(367-369)GAC>AAC		tumor protein p63 regulated 1-like							87.0	74.0	78.0					1																	3542350		2203	4300	6503	SO:0001583	missense	127262					cell junction|synaptic vesicle		g.chr1:3542350G>A	BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"""family with sequence similarity 79, member A"""	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.367G>A	1.37:g.3542350G>A	ENSP00000367595:p.Asp123Asn					TPRG1L_uc009vlj.2_Intron	p.D123N	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)	3	448	+	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	123					A8K1K4|Q8WV04	Missense_Mutation	SNP	ENST00000378344.2	37	c.367G>A	CCDS47.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045646	0.55110	.	.	ENSG00000158109	ENST00000378344;ENST00000456805	.	.	.	4.66	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	M	0.66506	2.035	0.58432	D	0.999999	B	0.33841	0.428	B	0.23018	0.043	T	0.52968	-0.8504	9	0.62326	D	0.03	-3.6381	9.3077	0.37885	0.0839:0.1471:0.769:0.0	.	123	Q5T0D9	TPRGL_HUMAN	N	123;80	.	ENSP00000367595:D123N	D	+	1	0	TPRG1L	3532210	1.000000	0.71417	0.871000	0.34182	0.805000	0.45488	7.568000	0.82369	1.005000	0.39183	0.563000	0.77884	GAC		0.547	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1		NM_182752		8	36	0	0	0	0.00308	0	8	36		
WRAP73	49856	broad.mit.edu	37	1	3547608	3547608	+	Silent	SNP	G	G	A	rs145375547		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:3547608G>A	ENST00000270708.7	-	12	1387	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	WRAP73_ENST00000378322.3_3'UTR	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	438						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AGCAGAGGCAGAAGTGATCCT	0.592																																						uc001ako.2		NaN																	0					0						c.(1312-1314)TTC>TTT		WD repeat domain 8		G		0,4406		0,0,2203	62.0	61.0	62.0		1314	2.2	1.0	1	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WRAP73	NM_017818.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		438/461	3547608	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	49856					centrosome	protein binding	g.chr1:3547608G>A	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.1314C>T	1.37:g.3547608G>A						WDR8_uc001akn.3_3'UTR	p.F438F	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	12	1422	-	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	438					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	ENST00000270708.7	37	c.1314C>T	CCDS48.1																																																																																				0.592	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1				44	77	0	0	0	0.011902	0	44	77		
CHD5	26038	broad.mit.edu	37	1	6195343	6195343	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:6195343G>A	ENST00000262450.3	-	18	2916	c.2817C>T	c.(2815-2817)aaC>aaT	p.N939N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCCGGCATGTTCTTGAACA	0.597																																						uc001amb.1		NaN																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(2815-2817)AAC>AAT		chromodomain helicase DNA binding protein 5							90.0	85.0	87.0					1																	6195343		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6195343G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2817C>T	1.37:g.6195343G>A						CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.N939N	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	18	2917	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	939					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.2817C>T	CCDS57.1																																																																																				0.597	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		NM_015557		27	83	0	0	0	0.005443	0	27	83		
DNAJC11	55735	broad.mit.edu	37	1	6696217	6696217	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:6696217C>T	ENST00000377577.5	-	15	1737	c.1614G>A	c.(1612-1614)gtG>gtA	p.V538V	DNAJC11_ENST00000294401.7_Silent_p.V486V|DNAJC11_ENST00000542246.1_Silent_p.V500V|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.V448V|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	538						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACCATCACCTGATGCA	0.597																																						uc001aof.2		NaN																	0				ovary(1)|skin(1)	2						c.(1612-1614)GTG>GTA		DnaJ (Hsp40) homolog, subfamily C, member 11							88.0	74.0	79.0					1																	6696217		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6696217C>T	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1614G>A	1.37:g.6696217C>T						DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.V486V|DNAJC11_uc010nzu.1_Silent_p.V448V	p.V538V	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	15	1720	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	538					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.1614G>A	CCDS87.1																																																																																				0.597	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3		NM_018198		27	36	0	0	0	0.004656	0	27	36		
RERE	473	broad.mit.edu	37	1	8420690	8420690	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:8420690C>T	ENST00000337907.3	-	19	3511	c.2877G>A	c.(2875-2877)atG>atA	p.M959I	RERE_ENST00000476556.1_Missense_Mutation_p.M405I|RERE_ENST00000400908.2_Missense_Mutation_p.M959I|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.M691I	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	959	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGTTGGCATTCATGGAGAAGG	0.687																																						uc001ape.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2875-2877)ATG>ATA		atrophin-1 like protein isoform a							29.0	34.0	32.0					1																	8420690		2165	4255	6420	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8420690C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2877G>A	1.37:g.8420690C>T	ENSP00000338629:p.Met959Ile					RERE_uc001apf.2_Missense_Mutation_p.M959I|RERE_uc010nzx.1_Missense_Mutation_p.M691I|RERE_uc001apd.2_Missense_Mutation_p.M405I	p.M959I	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	19	3687	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	959			Pro-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.2877G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860649	0.51482	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.45276	0.9;0.91;0.9	5.26	5.26	0.73747	.	.	.	.	.	T	0.40932	0.1137	L	0.53249	1.67	0.80722	D	1	B;B	0.23735	0.09;0.059	B;B	0.24701	0.055;0.042	T	0.21930	-1.0231	9	0.19147	T	0.46	-10.6742	17.4242	0.87522	0.0:1.0:0.0:0.0	.	691;959	B1AKN3;Q9P2R6	.;RERE_HUMAN	I	959;691;405;959	ENSP00000338629:M959I;ENSP00000366684:M691I;ENSP00000383700:M959I	ENSP00000338629:M959I	M	-	3	0	RERE	8343277	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	3.246000	0.51414	2.450000	0.82876	0.609000	0.83330	ATG		0.687	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1				24	100	0	0	0	0.00632	0	24	100		
SLC25A33	84275	broad.mit.edu	37	1	9613859	9613859	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:9613859C>T	ENST00000302692.6	+	2	442	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	78					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTCAGGTTCTGAAGTAAGT	0.493																																						uc001apw.2		NaN																	0					0						c.(232-234)CTG>TTG		mitochondrial carrier protein MGC4399							62.0	59.0	60.0					1																	9613859		2203	4300	6503	SO:0001819	synonymous_variant	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9613859C>T	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.232C>T	1.37:g.9613859C>T						SLC25A33_uc001apx.2_5'UTR	p.L78L	NM_032315	NP_115691	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	2	455	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	78			Solcar 1.			Silent	SNP	ENST00000302692.6	37	c.232C>T	CCDS103.1																																																																																				0.493	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2		NM_032315		7	44	0	0	0	0.00308	0	7	44		
RBP7	116362	broad.mit.edu	37	1	10067689	10067689	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:10067689G>A	ENST00000294435.7	+	2	178	c.135G>A	c.(133-135)caG>caA	p.Q45Q		NM_052960.2	NP_443192.1	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	45						cytoplasm (GO:0005737)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGATTGAGCAGAATGGGGATT	0.368																																						uc001aqq.2		NaN																	0					0						c.(133-135)CAG>CAA		retinol binding protein 7, cellular	Vitamin A(DB00162)						56.0	56.0	56.0					1																	10067689		2203	4300	6503	SO:0001819	synonymous_variant	116362					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr1:10067689G>A	AF399927	CCDS109.1	1p36.22	2013-03-01			ENSG00000162444	ENSG00000162444		"""Fatty acid binding protein family"""	30316	protein-coding gene	gene with protein product		608604				12177003	Standard	NM_052960		Approved	CRBPIV	uc001aqq.3	Q96R05	OTTHUMG00000001798	ENST00000294435.7:c.135G>A	1.37:g.10067689G>A						RBP7_uc009vms.2_RNA	p.Q45Q	NM_052960	NP_443192	Q96R05	RET7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	2	197	+		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	45					B2R517|Q5SWJ4	Silent	SNP	ENST00000294435.7	37	c.135G>A	CCDS109.1																																																																																				0.368	RBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005027.2		NM_052960		20	62	0	0	0	0.008871	0	20	62		
UBE4B	10277	broad.mit.edu	37	1	10195078	10195078	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:10195078T>A	ENST00000253251.8	+	15	2510	c.1671T>A	c.(1669-1671)ttT>ttA	p.F557L	UBE4B_ENST00000377157.3_Missense_Mutation_p.F441L|UBE4B_ENST00000343090.6_Missense_Mutation_p.F686L					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CAGATGGATTTATGCTGAATT	0.338																																						uc001aqs.3		NaN																	0				ovary(2)|skin(2)	4						c.(2056-2058)TTT>TTA		ubiquitination factor E4B isoform 1							89.0	86.0	87.0					1																	10195078		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10195078T>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1671T>A	1.37:g.10195078T>A	ENSP00000253251:p.Phe557Leu					UBE4B_uc001aqr.3_Missense_Mutation_p.F557L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.F141L|UBE4B_uc001aqt.1_Missense_Mutation_p.F26L	p.F686L	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	16	2771	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	686						Missense_Mutation	SNP	ENST00000253251.8	37	c.2058T>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.007241	0.93287	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.57436	0.4;0.4;0.4	6.04	-0.53	0.11898	Ubiquitin conjugation factor E4, core (1);	0.041543	0.85682	D	0.000000	T	0.69287	0.3094	M	0.85777	2.775	0.53005	D	0.999964	P;D;P	0.76494	0.521;0.999;0.465	B;D;B	0.83275	0.357;0.996;0.243	T	0.67173	-0.5737	10	0.59425	D	0.04	-12.6992	8.7386	0.34543	0.0:0.4481:0.1152:0.4367	.	557;686;557	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	L	557;441;686	ENSP00000253251:F557L;ENSP00000366362:F441L;ENSP00000343001:F686L	ENSP00000253251:F557L	F	+	3	2	UBE4B	10117665	0.994000	0.37717	0.990000	0.47175	0.998000	0.95712	0.331000	0.19733	-0.327000	0.08551	0.519000	0.50382	TTT		0.338	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1		NM_006048		21	93	0	0	0	0.012319	0	21	93		
CLCN6	1185	broad.mit.edu	37	1	11882771	11882771	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:11882771G>A	ENST00000346436.6	+	6	418	c.366G>A	c.(364-366)caG>caA	p.Q122Q	CLCN6_ENST00000376496.3_Silent_p.Q122Q|CLCN6_ENST00000376487.3_Silent_p.Q100Q|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Silent_p.Q122Q	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	122					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCAGCCAGAAAGGCTGCC	0.547																																						uc001ate.3		NaN																	0					0						c.(364-366)CAG>CAA		chloride channel 6 isoform ClC-6a							134.0	123.0	127.0					1																	11882771		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11882771G>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.366G>A	1.37:g.11882771G>A						CLCN6_uc009vnf.1_Silent_p.Q122Q|CLCN6_uc009vng.1_Silent_p.Q122Q|CLCN6_uc009vnh.1_Silent_p.Q122Q|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Silent_p.Q100Q	p.Q122Q	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	6	479	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	122					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.366G>A	CCDS138.1																																																																																				0.547	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2		NM_001286		42	93	0	0	0	0.007835	0	42	93		
VPS13D	55187	broad.mit.edu	37	1	12304593	12304593	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:12304593G>A	ENST00000358136.3	+	5	496		c.e5-1		VPS13D_ENST00000356315.4_Splice_Site	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)		TGTCTTTGTAGAATGACCGCC	0.458																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.e5-1		vacuolar protein sorting 13D isoform 1							157.0	145.0	149.0					1																	12304593		2203	4300	6503	SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12304593G>A	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.367-1G>A	1.37:g.12304593G>A						VPS13D_uc001atw.2_Splice_Site_p.N123_splice	p.N123_splice	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)	5	508	+	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)							Splice_Site	SNP	ENST00000358136.3	37	c.367_splice	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470306	0.43942	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7098	0.69222	0.0:0.0:0.8549:0.1451	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13D	12227180	1.000000	0.71417	0.970000	0.41538	0.480000	0.33159	9.040000	0.93783	2.840000	0.97914	0.655000	0.94253	.		0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378	Intron	68	82	0	0	0	0.01441	0	68	82		
VPS13D	55187	broad.mit.edu	37	1	12387712	12387712	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:12387712G>A	ENST00000358136.3	+	36	8128	c.7998G>A	c.(7996-7998)ttG>ttA	p.L2666L	VPS13D_ENST00000356315.4_Silent_p.L2666L	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)		AAGGCCAATTGAAAAAGGCAG	0.473																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(7996-7998)TTG>TTA		vacuolar protein sorting 13D isoform 1							149.0	163.0	158.0					1																	12387712		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12387712G>A	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.7998G>A	1.37:g.12387712G>A						VPS13D_uc001atw.2_Silent_p.L2666L|VPS13D_uc001atx.2_Silent_p.L1854L|VPS13D_uc001aty.1_Silent_p.L404L	p.L2666L	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)	36	8139	+	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)	2666			UBA.			Silent	SNP	ENST00000358136.3	37	c.7998G>A	CCDS30588.1																																																																																				0.473	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		90	249	0	0	0	0.01441	0	90	249		
PRDM2	7799	broad.mit.edu	37	1	14105194	14105194	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:14105194G>A	ENST00000235372.7	+	8	1760	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	PRDM2_ENST00000311066.5_Missense_Mutation_p.E302K|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.E101K|PRDM2_ENST00000343137.4_Missense_Mutation_p.E101K|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	302	Retinoblastoma protein binding.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CATGCCAAATGAAAATTCTGT	0.433																																						uc001avi.2		NaN																	0				ovary(1)	1						c.(904-906)GAA>AAA		retinoblastoma protein-binding zinc finger							85.0	86.0	85.0					1																	14105194		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105194G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.904G>A	1.37:g.14105194G>A	ENSP00000235372:p.Glu302Lys					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E302K|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.E59K|PRDM2_uc001avk.2_Missense_Mutation_p.E101K|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.E302K	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	1760	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	302			Retinoblastoma protein binding.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.904G>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342121	0.41498	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01787	4.75;4.64;4.64;4.64	5.67	5.67	0.87782	.	0.395451	0.29668	N	0.011501	T	0.03739	0.0106	M	0.65498	2.005	0.58432	D	0.999998	P;B;B;P	0.35433	0.501;0.361;0.361;0.493	B;B;B;B	0.30646	0.118;0.086;0.051;0.079	T	0.39375	-0.9617	10	0.66056	D	0.02	.	18.3267	0.90256	0.0:0.0:1.0:0.0	.	302;160;302;302	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	K	302;302;302;101;101	ENSP00000235372:E302K;ENSP00000312352:E302K;ENSP00000411103:E101K;ENSP00000341621:E101K	ENSP00000235372:E302K	E	+	1	0	PRDM2	13977781	1.000000	0.71417	0.165000	0.22776	0.087000	0.18053	5.714000	0.68422	2.666000	0.90696	0.561000	0.74099	GAA		0.433	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2		NM_012231		21	72	0	0	0	0.008871	0	21	72		
DNAJC16	23341	broad.mit.edu	37	1	15874821	15874821	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:15874821G>C	ENST00000375847.3	+	7	1085	c.921G>C	c.(919-921)ttG>ttC	p.L307F	DNAJC16_ENST00000375849.1_Missense_Mutation_p.L307F|DNAJC16_ENST00000375838.1_Missense_Mutation_p.L307F	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	307					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ATGTGGGTTTGAGAGGGACGG	0.398																																						uc001aws.2		NaN																	0				urinary_tract(1)|lung(1)|kidney(1)	3						c.(919-921)TTG>TTC		DnaJ (Hsp40) homolog, subfamily C, member 16							125.0	119.0	121.0					1																	15874821		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15874821G>C	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.921G>C	1.37:g.15874821G>C	ENSP00000365007:p.Leu307Phe					DNAJC16_uc001awr.1_Missense_Mutation_p.L307F|DNAJC16_uc001awt.2_5'UTR	p.L307F	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	7	1041	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	307			Cytoplasmic (Potential).		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.921G>C	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	1.733	-0.493770	0.04322	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.16897	2.31;2.31;2.31	6.07	-0.389	0.12455	.	0.360867	0.28067	N	0.016733	T	0.13841	0.0335	M	0.61703	1.905	0.09310	N	1	B;B	0.29805	0.257;0.257	B;B	0.29176	0.099;0.099	T	0.15636	-1.0430	10	0.54805	T	0.06	-4.7833	3.0433	0.06145	0.1943:0.3248:0.3699:0.111	.	307;307	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	F	307	ENSP00000365007:L307F;ENSP00000364998:L307F;ENSP00000365009:L307F	ENSP00000364998:L307F	L	+	3	2	DNAJC16	15747408	0.085000	0.21516	0.003000	0.11579	0.007000	0.05969	-0.054000	0.11826	-0.083000	0.12618	-0.150000	0.13652	TTG		0.398	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1		NM_015291		35	72	0	0	0	0.003271	0	35	72		
DDI2	84301	broad.mit.edu	37	1	15956939	15956939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:15956939C>T	ENST00000480945.1	+	3	559	c.388C>T	c.(388-390)Cag>Tag	p.Q130*		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	130							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTCATCTCCTCAGGGCTTGGA	0.562																																						uc001awx.1		NaN																	0					0						c.(388-390)CAG>TAG		DNA-damage inducible protein 2							96.0	88.0	91.0					1																	15956939		2203	4300	6503	SO:0001587	stop_gained	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15956939C>T		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.388C>T	1.37:g.15956939C>T	ENSP00000417748:p.Gln130*					DDI2_uc001aww.2_Nonsense_Mutation_p.Q130*|DDI2_uc009voj.1_5'UTR	p.Q130*	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	484	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	130					A8KAE1|Q7RTZ0|Q9BRT1	Nonsense_Mutation	SNP	ENST00000480945.1	37	c.388C>T	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	C	37	6.379902	0.97520	.	.	ENSG00000197312	ENST00000480945	.	.	.	5.67	5.67	0.87782	.	0.065582	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	2.175	19.3867	0.94560	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	ENSP00000449475:Q15X	Q	+	1	0	DDI2	15829526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.336000	0.79245	2.684000	0.91462	0.650000	0.86243	CAG		0.562	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1		NM_032341		24	114	0	0	0	0.014323	0	24	114		
PLEKHM2	23207	broad.mit.edu	37	1	16053943	16053943	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16053943C>T	ENST00000375799.3	+	9	1603	c.1376C>T	c.(1375-1377)tCa>tTa	p.S459L	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S439L|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	459					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGGGGCTTTCAGCCCCAATG	0.632																																						uc010obo.1		NaN																	0				ovary(1)	1						c.(1375-1377)TCA>TTA		pleckstrin homology domain containing, family M							12.0	13.0	13.0					1																	16053943		1862	4101	5963	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16053943C>T	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1376C>T	1.37:g.16053943C>T	ENSP00000364956:p.Ser459Leu						p.S459L	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	9	1603	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	459					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.1376C>T	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475930	0.44044	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.43294	0.95;0.97	5.13	5.13	0.70059	.	0.337832	0.30593	N	0.009293	T	0.20577	0.0495	N	0.08118	0	0.26001	N	0.982112	B	0.02656	0.0	B	0.01281	0.0	T	0.10520	-1.0626	10	0.21014	T	0.42	-1.1727	8.379	0.32459	0.155:0.7667:0.0:0.0783	.	459	Q8IWE5	PKHM2_HUMAN	L	459;439	ENSP00000364956:S459L;ENSP00000364950:S439L	ENSP00000364950:S439L	S	+	2	0	PLEKHM2	15926530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.523000	0.53488	2.531000	0.85337	0.655000	0.94253	TCA		0.632	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1		NM_015164		4	12	0	0	0	0.009096	0	4	12		
SPEN	23013	broad.mit.edu	37	1	16259146	16259146	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16259146G>A	ENST00000375759.3	+	11	6615	c.6411G>A	c.(6409-6411)ttG>ttA	p.L2137L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2137	Interaction with MSX2. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CATCCCAGTTGAAAAGTGATC	0.557																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(6409-6411)TTG>TTA		spen homolog, transcriptional regulator							94.0	98.0	97.0					1																	16259146		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259146G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6411G>A	1.37:g.16259146G>A						SPEN_uc010obp.1_Silent_p.L2096L	p.L2137L	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6615	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2137			Interaction with MSX2 (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.6411G>A	CCDS164.1																																																																																				0.557	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		75	153	0	0	0	0.01441	0	75	153		
SPEN	23013	broad.mit.edu	37	1	16259289	16259289	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16259289C>T	ENST00000375759.3	+	11	6758	c.6554C>T	c.(6553-6555)tCt>tTt	p.S2185F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2185	Interaction with MSX2. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTGAGGCCTCTGCCTCTGCT	0.622																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(6553-6555)TCT>TTT		spen homolog, transcriptional regulator							55.0	54.0	54.0					1																	16259289		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259289C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6554C>T	1.37:g.16259289C>T	ENSP00000364912:p.Ser2185Phe					SPEN_uc010obp.1_Missense_Mutation_p.S2144F	p.S2185F	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6758	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2185			Interaction with MSX2 (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.6554C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	5.391	0.257397	0.10239	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	4.42	4.42	0.53409	.	.	.	.	.	T	0.12732	0.0309	L	0.44542	1.39	0.27060	N	0.963583	P	0.43169	0.8	B	0.37833	0.259	T	0.08513	-1.0718	9	0.66056	D	0.02	-1.2301	17.4143	0.87495	0.0:1.0:0.0:0.0	.	2185	Q96T58	MINT_HUMAN	F	2185	ENSP00000364912:S2185F	ENSP00000364912:S2185F	S	+	2	0	SPEN	16131876	0.525000	0.26290	0.009000	0.14445	0.038000	0.13279	4.347000	0.59373	2.164000	0.68074	0.462000	0.41574	TCT		0.622	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		57	62	0	0	0	0.01441	0	57	62		
ZBTB17	7709	broad.mit.edu	37	1	16269163	16269163	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16269163C>T	ENST00000375743.4	-	14	2131	c.1899G>A	c.(1897-1899)gtG>gtA	p.V633V	ZBTB17_ENST00000537142.1_Silent_p.V551V|ZBTB17_ENST00000375733.2_Silent_p.V633V	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	633					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCACGGTCTTCACGTGGGAGC	0.592																																						uc001axl.3		NaN																	0					0						c.(1897-1899)GTG>GTA		zinc finger and BTB domain containing 17							83.0	67.0	72.0					1																	16269163		2203	4300	6503	SO:0001819	synonymous_variant	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16269163C>T	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1899G>A	1.37:g.16269163C>T						ZBTB17_uc010obq.1_Silent_p.V550V|ZBTB17_uc010obr.1_Silent_p.V633V|ZBTB17_uc010obs.1_Silent_p.V557V	p.V633V	NM_003443	NP_003434	Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	14	2138	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	633			C2H2-type 12.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	ENST00000375743.4	37	c.1899G>A	CCDS165.1	.	.	.	.	.	.	.	.	.	.	C	8.942	0.966035	0.18659	.	.	ENSG00000116809	ENST00000440560	.	.	.	5.52	2.39	0.29439	.	.	.	.	.	T	0.61615	0.2361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58239	-0.7671	4	.	.	.	.	11.6642	0.51364	0.0:0.5583:0.3679:0.0738	.	.	.	.	K	33	.	.	E	-	1	0	ZBTB17	16141750	0.472000	0.25870	1.000000	0.80357	0.946000	0.59487	-0.235000	0.09016	0.647000	0.30713	0.563000	0.77884	GAA		0.592	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1		NM_003443		32	29	0	0	0	0.013726	0	32	29		
ZBTB17	7709	broad.mit.edu	37	1	16269661	16269661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16269661G>A	ENST00000375743.4	-	13	1958	c.1726C>T	c.(1726-1728)Cat>Tat	p.H576Y	ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000537142.1_Missense_Mutation_p.H494Y|ZBTB17_ENST00000375733.2_Missense_Mutation_p.H576Y	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	576					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGAATATGATTGGCCAAC	0.587																																						uc001axl.3		NaN																	0					0						c.(1726-1728)CAT>TAT		zinc finger and BTB domain containing 17							274.0	245.0	255.0					1																	16269661		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16269661G>A	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1726C>T	1.37:g.16269661G>A	ENSP00000364895:p.His576Tyr					ZBTB17_uc010obq.1_Missense_Mutation_p.H493Y|ZBTB17_uc010obr.1_Missense_Mutation_p.H576Y|ZBTB17_uc010obs.1_Missense_Mutation_p.H500Y	p.H576Y	NM_003443	NP_003434	Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	13	1965	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	576			C2H2-type 10.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.1726C>T	CCDS165.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255134	0.95336	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729	D;D;D	0.86769	-2.17;-2.17;-2.17	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95781	0.8627	H	0.95079	3.62	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.997	D;D;D	0.85130	0.986;0.997;0.962	D	0.96886	0.9649	10	0.87932	D	0	.	19.112	0.93319	0.0:0.0:1.0:0.0	.	576;494;576	Q13105-2;F5H411;Q13105	.;.;ZBT17_HUMAN	Y	576;576;495;494;132	ENSP00000364895:H576Y;ENSP00000364885:H576Y;ENSP00000438529:H494Y	ENSP00000364881:H132Y	H	-	1	0	ZBTB17	16142248	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.372000	0.97165	2.580000	0.87095	0.563000	0.77884	CAT		0.587	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1		NM_003443		29	128	0	0	0	0.012213	0	29	128		
CROCC	9696	broad.mit.edu	37	1	17257888	17257888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:17257888G>A	ENST00000375541.5	+	8	1021	c.952G>A	c.(952-954)Gag>Aag	p.E318K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.E318K(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GATGTTCACTGAGAGGTGAGG	0.587																																						uc001azt.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(952-954)GAG>AAG		ciliary rootlet coiled-coil							73.0	63.0	67.0					1																	17257888		2203	4300	6503	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17257888G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.952G>A	1.37:g.17257888G>A	ENSP00000364691:p.Glu318Lys					CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Missense_Mutation_p.E81K	p.E318K	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	8	1021	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	318			Potential.			Missense_Mutation	SNP	ENST00000375541.5	37	c.952G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114852	0.56505	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.14766	2.48	4.6	4.6	0.57074	.	.	.	.	.	T	0.28896	0.0717	L	0.45352	1.415	0.44660	D	0.99764	D;D	0.89917	0.996;1.0	P;D	0.85130	0.894;0.997	T	0.00948	-1.1504	9	0.27082	T	0.32	.	16.5069	0.84274	0.0:0.0:1.0:0.0	.	181;318	A1L0S8;Q5TZA2	.;CROCC_HUMAN	K	318;199	ENSP00000364691:E318K	ENSP00000364691:E318K	E	+	1	0	CROCC	17130475	1.000000	0.71417	0.540000	0.28089	0.192000	0.23643	6.920000	0.75799	2.532000	0.85374	0.561000	0.74099	GAG		0.587	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2		NM_014675		79	60	0	0	0	0.01441	0	79	60		
PADI2	11240	broad.mit.edu	37	1	17409048	17409048	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:17409048C>T	ENST00000375486.4	-	10	1213	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	PADI2_ENST00000375481.1_Missense_Mutation_p.E384K|PADI2_ENST00000444885.2_Missense_Mutation_p.E268K|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	384					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACCAGGAGCTCCTTCACAGGG	0.557																																						uc001baf.2		NaN																	0				ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1150-1152)GAG>AAG		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						74.0	71.0	72.0					1																	17409048		2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17409048C>T	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1150G>A	1.37:g.17409048C>T	ENSP00000364635:p.Glu384Lys					PADI2_uc010ocm.1_Missense_Mutation_p.E268K|PADI2_uc001bag.1_Missense_Mutation_p.E384K	p.E384K	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	10	1232	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	384					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.1150G>A	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	5.532	0.283040	0.10458	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.19806	2.12;2.12;2.12	4.73	1.51	0.23008	Protein-arginine deiminase, C-terminal (1);	0.504926	0.22859	N	0.054775	T	0.10337	0.0253	N	0.16307	0.4	0.29096	N	0.881768	B;B	0.22683	0.073;0.015	B;B	0.27715	0.065;0.082	T	0.34030	-0.9845	10	0.08837	T	0.75	-26.1253	7.6263	0.28214	0.0:0.3719:0.3538:0.2742	.	268;384	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	K	384;268;384	ENSP00000364635:E384K;ENSP00000405894:E268K;ENSP00000364630:E384K	ENSP00000364630:E384K	E	-	1	0	PADI2	17281635	0.507000	0.26146	0.999000	0.59377	0.850000	0.48378	2.190000	0.42630	0.686000	0.31488	-0.153000	0.13522	GAG		0.557	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1				21	60	0	0	0	0.012319	0	21	60		
IGSF21	84966	broad.mit.edu	37	1	18661457	18661457	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:18661457G>T	ENST00000251296.1	+	4	760	c.377G>T	c.(376-378)aGg>aTg	p.R126M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	126	Ig-like 1.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCGCCACCAGGGAGAAGGTG	0.617																																						uc001bau.1		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(376-378)AGG>ATG		immunoglobin superfamily, member 21 precursor							100.0	72.0	82.0					1																	18661457		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18661457G>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.377G>T	1.37:g.18661457G>T	ENSP00000251296:p.Arg126Met						p.R126M	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	4	760	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	126			Ig-like 1.		Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.377G>T	CCDS184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	27.3|27.3	4.818327|4.818327	0.90790|0.90790	.|.	.|.	ENSG00000117154|ENSG00000117154	ENST00000412684|ENST00000251296	.|T	.|0.28895	.|1.59	5.57|5.57	5.57|5.57	0.84162|0.84162	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47021|0.47021	0.1423|0.1423	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	T|T	0.39078|0.39078	-0.9631|-0.9631	5|10	.|0.54805	.|T	.|0.06	-17.3611|-17.3611	18.1211|18.1211	0.89572|0.89572	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|126	.|Q96ID5	.|IGS21_HUMAN	H|M	78|126	.|ENSP00000251296:R126M	.|ENSP00000251296:R126M	Q|R	+|+	3|2	2|0	IGSF21|IGSF21	18534044|18534044	1.000000|1.000000	0.71417|0.71417	0.933000|0.933000	0.37362|0.37362	0.952000|0.952000	0.60782|0.60782	8.136000|8.136000	0.89610|0.89610	2.614000|2.614000	0.88457|0.88457	0.651000|0.651000	0.88453|0.88453	CAG|AGG		0.617	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1		NM_032880		9	22	1	0	7.48243e-07	0.006214	7.68791e-07	9	22		
TAS1R2	80834	broad.mit.edu	37	1	19186032	19186032	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:19186032G>C	ENST00000375371.3	-	1	144	c.123C>G	c.(121-123)ctC>ctG	p.L41L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	41					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGTTGGCATGGAGGGAGAAGA	0.582																																						uc001bba.1		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(121-123)CTC>CTG		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						119.0	109.0	113.0					1																	19186032		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19186032G>C		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.123C>G	1.37:g.19186032G>C							p.L41L	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	124	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	41			Extracellular (Potential).		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.123C>G	CCDS187.1																																																																																				0.582	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1				43	45	0	0	0	0.007835	0	43	45		
UBR4	23352	broad.mit.edu	37	1	19510379	19510379	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:19510379C>T	ENST00000375254.3	-	17	2137	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K	UBR4_ENST00000375217.2_Missense_Mutation_p.E704K|UBR4_ENST00000375226.2_Missense_Mutation_p.E704K|UBR4_ENST00000375267.2_Missense_Mutation_p.E704K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	704					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCAAACTCTTCATCTGATGAA	0.443																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(2110-2112)GAA>AAA		retinoblastoma-associated factor 600							84.0	78.0	80.0					1																	19510379		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19510379C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2110G>A	1.37:g.19510379C>T	ENSP00000364403:p.Glu704Lys						p.E704K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	17	2114	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	704					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.2110G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566640	0.45694	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	6.06	6.06	0.98353	.	0.052986	0.85682	D	0.000000	T	0.29061	0.0722	N	0.14661	0.345	0.80722	D	1	B	0.31318	0.319	B	0.24701	0.055	T	0.04976	-1.0914	10	0.32370	T	0.25	.	19.1847	0.93639	0.0:1.0:0.0:0.0	.	704	Q5T4S7	UBR4_HUMAN	K	704	ENSP00000364403:E704K;ENSP00000364416:E704K;ENSP00000364365:E704K;ENSP00000364374:E704K	ENSP00000364365:E704K	E	-	1	0	UBR4	19382966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.242000	0.78210	2.882000	0.98803	0.655000	0.94253	GAA		0.443	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		15	41	0	0	0	0.003163	0	15	41		
EMC1	23065	broad.mit.edu	37	1	19559255	19559255	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:19559255C>G	ENST00000477853.1	-	15	1687	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	EMC1_ENST00000375208.3_Missense_Mutation_p.E527Q|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.E548Q	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	549						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GAGCTGCTCTCAATGCCAAAA	0.438																																						uc001bbo.2		NaN																	0				ovary(1)	1						c.(1645-1647)GAG>CAG		hypothetical protein LOC23065 precursor							138.0	137.0	138.0					1																	19559255		2203	4300	6503	SO:0001583	missense	23065					integral to membrane	protein binding	g.chr1:19559255C>G		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1645G>C	1.37:g.19559255C>G	ENSP00000420608:p.Glu549Gln					KIAA0090_uc001bbp.2_Missense_Mutation_p.E548Q|KIAA0090_uc001bbq.2_Missense_Mutation_p.E548Q|KIAA0090_uc001bbr.2_Missense_Mutation_p.E527Q	p.E549Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	15	1688	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	549			Extracellular (Potential).		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.1645G>C	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.735445|4.735445	0.89482|0.89482	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.24350|.	1.87;1.87;1.86|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.042255|.	0.85682|.	D|.	0.000000|.	T|.	0.69433|.	0.3110|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.50272|.	0.713;0.713;0.933;0.89|.	P;P;P;B|.	0.52109|.	0.513;0.69;0.623;0.419|.	T|.	0.63563|.	-0.6609|.	10|.	0.54805|.	T|.	0.06|.	-36.0413|-36.0413	18.9232|18.9232	0.92534|0.92534	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	527;548;548;549|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	Q|S	549;548;527|282	ENSP00000420608:E549Q;ENSP00000364345:E548Q;ENSP00000364354:E527Q|.	ENSP00000364345:E548Q|.	E|X	-|-	1|2	0|2	KIAA0090|KIAA0090	19431842|19431842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.280000|7.280000	0.78610|0.78610	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GAG|TGA		0.438	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2		NM_015047		38	131	0	0	0	0.00623	0	38	131		
EIF4G3	8672	broad.mit.edu	37	1	21167472	21167472	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:21167472A>G	ENST00000264211.8	-	24	3964	c.3770T>C	c.(3769-3771)gTt>gCt	p.V1257A	EIF4G3_ENST00000374935.3_Missense_Mutation_p.V977A|EIF4G3_ENST00000536266.1_Missense_Mutation_p.V861A|RNU7-200P_ENST00000516105.1_RNA|EIF4G3_ENST00000602326.1_Missense_Mutation_p.V1263A|EIF4G3_ENST00000537738.1_Missense_Mutation_p.V747A|EIF4G3_ENST00000374937.3_Missense_Mutation_p.V1263A|EIF4G3_ENST00000400422.1_Missense_Mutation_p.V1257A	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1257	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTCACAAAAACATGTAGTAG	0.478																																						uc001bec.2		NaN																	0				skin(1)	1						c.(3769-3771)GTT>GCT		eukaryotic translation initiation factor 4							102.0	96.0	98.0					1																	21167472		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21167472A>G	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3770T>C	1.37:g.21167472A>G	ENSP00000264211:p.Val1257Ala					EIF4G3_uc010odi.1_Missense_Mutation_p.V861A|EIF4G3_uc010odj.1_Missense_Mutation_p.V1256A|EIF4G3_uc009vpz.2_Missense_Mutation_p.V977A|EIF4G3_uc001bed.2_Missense_Mutation_p.V1257A|EIF4G3_uc001bef.2_Missense_Mutation_p.V1293A|EIF4G3_uc001bee.2_Missense_Mutation_p.V1263A	p.V1257A	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	25	4026	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1257			MI.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.3770T>C	CCDS214.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004598	0.74932	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000435383	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.48	5.48	0.80851	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.204072	0.40818	N	0.001001	T	0.44767	0.1309	M	0.72118	2.19	0.80722	D	1	P;P;P;B;B	0.48294	0.908;0.62;0.768;0.429;0.44	P;B;B;B;B	0.49252	0.604;0.4;0.393;0.279;0.243	T	0.48234	-0.9053	10	0.66056	D	0.02	-12.7931	15.5579	0.76213	1.0:0.0:0.0:0.0	.	1452;977;861;1263;1257	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	A	1257;1453;1257;977;747;1263;861;23	ENSP00000264211:V1257A;ENSP00000383274:V1257A;ENSP00000364071:V977A;ENSP00000442010:V747A;ENSP00000364073:V1263A;ENSP00000444693:V861A	ENSP00000264211:V1257A	V	-	2	0	EIF4G3	21040059	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.061000	0.76699	2.083000	0.62718	0.260000	0.18958	GTT		0.478	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760		29	70	0	0	0	0.007291	0	29	70		
HSPG2	3339	broad.mit.edu	37	1	22173050	22173050	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:22173050G>A	ENST00000374695.3	-	63	8286	c.8207C>T	c.(8206-8208)tCa>tTa	p.S2736L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2736	Ig-like C2-type 13.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGCCACGTGTGAGGAGGATGA	0.622																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(8206-8208)TCA>TTA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						60.0	62.0	61.0					1																	22173050		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22173050G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8207C>T	1.37:g.22173050G>A	ENSP00000363827:p.Ser2736Leu					HSPG2_uc009vqd.2_Missense_Mutation_p.S2737L	p.S2736L	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	63	8247	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2736			Ig-like C2-type 13.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8207C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642687	0.47153	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.64260	-0.09;-0.09	4.94	4.94	0.65067	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34178	N	0.004190	T	0.62036	0.2395	N	0.17564	0.495	0.09310	N	0.999998	D;D	0.76494	0.999;0.998	D;D	0.83275	0.994;0.996	T	0.53563	-0.8421	10	0.26408	T	0.33	.	10.8757	0.46909	0.0:0.0:0.812:0.188	.	676;2736	Q59EG0;P98160	.;PGBM_HUMAN	L	2736;151	ENSP00000363827:S2736L;ENSP00000396310:S151L	ENSP00000363827:S2736L	S	-	2	0	HSPG2	22045637	0.999000	0.42202	0.196000	0.23383	0.349000	0.29174	6.094000	0.71431	2.292000	0.77174	0.561000	0.74099	TCA		0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529		18	67	0	0	0	0.006122	0	18	67		
HSPG2	3339	broad.mit.edu	37	1	22173059	22173059	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:22173059G>A	ENST00000374695.3	-	63	8277	c.8198C>T	c.(8197-8199)tCa>tTa	p.S2733L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2733	Ig-like C2-type 13.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGAGGAGGATGACTCAATTCT	0.627																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(8197-8199)TCA>TTA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						58.0	60.0	59.0					1																	22173059		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22173059G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8198C>T	1.37:g.22173059G>A	ENSP00000363827:p.Ser2733Leu					HSPG2_uc009vqd.2_Missense_Mutation_p.S2734L	p.S2733L	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	63	8238	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2733			Ig-like C2-type 13.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8198C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622394	0.66787	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.64260	2.58;-0.09	4.94	4.94	0.65067	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35870	N	0.002938	T	0.75889	0.3911	M	0.72576	2.205	0.31990	N	0.604792	D;D	0.89917	1.0;0.987	D;D	0.91635	0.999;0.932	T	0.80420	-0.1390	10	0.66056	D	0.02	.	10.8757	0.46909	0.0:0.0:0.812:0.188	.	673;2733	Q59EG0;P98160	.;PGBM_HUMAN	L	2733;148	ENSP00000363827:S2733L;ENSP00000396310:S148L	ENSP00000363827:S2733L	S	-	2	0	HSPG2	22045646	1.000000	0.71417	0.978000	0.43139	0.618000	0.37518	4.693000	0.61753	2.292000	0.77174	0.561000	0.74099	TCA		0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529		15	60	0	0	0	0.004007	0	15	60		
HSPG2	3339	broad.mit.edu	37	1	22178312	22178312	+	Silent	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:22178312A>T	ENST00000374695.3	-	54	7057	c.6978T>A	c.(6976-6978)acT>acA	p.T2326T	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2326	Ig-like C2-type 8.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCTGGGTCCCAGTTACTGTGA	0.637																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(6976-6978)ACT>ACA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						49.0	54.0	52.0					1																	22178312		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22178312A>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6978T>A	1.37:g.22178312A>T						HSPG2_uc009vqd.2_Silent_p.T2327T	p.T2326T	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	54	7018	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2326			Ig-like C2-type 8.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.6978T>A	CCDS30625.1																																																																																				0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529		12	37	0	0	0	0.013537	0	12	37		
ZNF436	80818	broad.mit.edu	37	1	23696057	23696057	+	5'Flank	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:23696057G>A	ENST00000314011.4	-	0	0				C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000335648.3_Silent_p.L89L|C1orf213_ENST00000454117.1_Intron|ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000437367.2_Intron|Y_RNA_ENST00000364535.1_RNA	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATCGTAGGCTGATCCTAAAGA	0.562																																						uc001bgw.2		NaN																	0					0						c.(265-267)CTG>CTA		hypothetical protein LOC148898 isoform 1							64.0	65.0	64.0					1																	23696057		2203	4300	6503	SO:0001631	upstream_gene_variant	148898							g.chr1:23696057G>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232		1.37:g.23696057G>A	Exception_encountered					ZNF436_uc001bgt.2_5'Flank|ZNF436_uc001bgu.2_5'UTR|C1orf213_uc001bgv.2_Intron	p.L89L	NM_138479	NP_612488				UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	1	594	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)						Q658I9	Silent	SNP	ENST00000314011.4	37	c.267G>A	CCDS233.1																																																																																				0.562	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1		NM_030634		5	30	0	0	0	0.001168	0	5	30		
MYOM3	127294	broad.mit.edu	37	1	24406673	24406673	+	Missense_Mutation	SNP	C	C	T	rs369456651		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:24406673C>T	ENST00000374434.3	-	20	2581	c.2419G>A	c.(2419-2421)Gat>Aat	p.D807N	MYOM3_ENST00000329601.7_Missense_Mutation_p.D807N|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000475306.1_5'Flank|MYOM3_ENST00000330966.7_Missense_Mutation_p.D808N	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	807	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCCCGTACATCGTACGGGGGG	0.602																																						uc001bin.3		NaN																	0				skin(2)|ovary(1)	3						c.(2419-2421)GAT>AAT		myomesin family, member 3		C	ASN/ASP	0,4038		0,0,2019	34.0	40.0	38.0		2419	5.4	0.0	1		38	1,8339		0,1,4169	no	missense	MYOM3	NM_152372.3	23	0,1,6188	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	807/1438	24406673	1,12377	2019	4170	6189	SO:0001583	missense	127294							g.chr1:24406673C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2419G>A	1.37:g.24406673C>T	ENSP00000363557:p.Asp807Asn					MYOM3_uc001bim.3_Missense_Mutation_p.D464N|MYOM3_uc001bio.2_Missense_Mutation_p.D807N	p.D807N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	20	2582	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	807			Fibronectin type-III 5.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.2419G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351939	0.61183	0.0	1.2E-4	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.52057	0.68;0.68;0.68	5.38	5.38	0.77491	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.131002	0.56097	D	0.000024	T	0.58991	0.2161	N	0.26042	0.785	0.42515	D	0.992981	D;D	0.89917	0.998;1.0	P;D	0.97110	0.837;1.0	T	0.62595	-0.6821	10	0.59425	D	0.04	.	19.1469	0.93472	0.0:1.0:0.0:0.0	.	807;807	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	N	807;808;807	ENSP00000363557:D807N;ENSP00000332670:D808N;ENSP00000328415:D807N	ENSP00000328415:D807N	D	-	1	0	MYOM3	24279260	0.998000	0.40836	0.026000	0.17262	0.028000	0.11728	4.839000	0.62810	2.531000	0.85337	0.563000	0.77884	GAT		0.602	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		15	33	0	0	0	0.00499	0	15	33		
NIPAL3	57185	broad.mit.edu	37	1	24768670	24768670	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:24768670C>T	ENST00000374399.4	+	4	656	c.288C>T	c.(286-288)ttC>ttT	p.F96F	NIPAL3_ENST00000003912.3_Silent_p.F14F|NIPAL3_ENST00000428131.1_Silent_p.F96F|NIPAL3_ENST00000339255.2_Silent_p.F96F|NIPAL3_ENST00000358028.4_Silent_p.F96F	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	96						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CCTACGCCTTCGCGCCGCTGT	0.632																																						uc001bjh.2		NaN																	0					0						c.(286-288)TTC>TTT		NIPA-like domain containing 3							124.0	111.0	115.0					1																	24768670		2203	4300	6503	SO:0001819	synonymous_variant	57185					integral to membrane		g.chr1:24768670C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.288C>T	1.37:g.24768670C>T						NIPAL3_uc010oek.1_Silent_p.F96F|NIPAL3_uc001bjg.2_Silent_p.F96F|NIPAL3_uc009vrc.2_Silent_p.F14F	p.F96F	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN			4	695	+			96			Helical; (Potential).		A2A298|Q6MZT9|Q9BVE6	Silent	SNP	ENST00000374399.4	37	c.288C>T	CCDS30631.1																																																																																				0.632	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1		NM_020448		19	75	0	0	0	0.010504	0	19	75		
PAQR7	164091	broad.mit.edu	37	1	26190213	26190213	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:26190213G>A	ENST00000374296.3	-	2	784	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	40					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAAGAGCGGCGGCACCTCA	0.622																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	uc001bkx.2		NaN																	0				breast(3)	3						c.(118-120)CCG>TCG		progestin and adipoQ receptor family member VII							54.0	56.0	56.0					1																	26190213		2203	4300	6503	SO:0001583	missense	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26190213G>A		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.118C>T	1.37:g.26190213G>A	ENSP00000363414:p.Pro40Ser						p.P40S	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	785	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	40			Cytoplasmic (Potential).		A2A2D3|Q5XKF9|Q86VE4	Missense_Mutation	SNP	ENST00000374296.3	37	c.118C>T	CCDS267.1	.	.	.	.	.	.	.	.	.	.	G	2.967	-0.213220	0.06140	.	.	ENSG00000182749	ENST00000374296	T	0.22945	1.93	4.75	4.75	0.60458	.	0.480061	0.21869	N	0.067908	T	0.14700	0.0355	N	0.12182	0.205	0.20926	N	0.999828	B	0.23937	0.094	B	0.21917	0.037	T	0.09596	-1.0667	10	0.07813	T	0.8	-16.2409	17.0255	0.86444	0.0:0.0:1.0:0.0	.	40	Q86WK9	MPRA_HUMAN	S	40	ENSP00000363414:P40S	ENSP00000363414:P40S	P	-	1	0	PAQR7	26062800	0.003000	0.15002	0.783000	0.31826	0.131000	0.20780	1.561000	0.36342	2.619000	0.88677	0.655000	0.94253	CCG		0.622	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1		NM_178422		15	28	0	0	0	0.00499	0	15	28		
CNKSR1	10256	broad.mit.edu	37	1	26509694	26509694	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:26509694G>A	ENST00000374253.5	+	7	670	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Missense_Mutation_p.E211K|CNKSR1_ENST00000480348.2_3'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	211	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGGCCTAGAAATTCACAC	0.627																																					NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.3		NaN																	0				lung(1)|kidney(1)	2						c.(631-633)GAA>AAA		connector enhancer of kinase suppressor of Ras							159.0	172.0	167.0					1																	26509694		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26509694G>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.631G>A	1.37:g.26509694G>A	ENSP00000363371:p.Glu211Lys					CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.E211K|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	p.E211K	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	7	689	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	211			PDZ.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.631G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.029|6.029	0.373756|0.373756	0.11409|0.11409	.|.	.|.	ENSG00000142675|ENSG00000142675	ENST00000361530;ENST00000374253|ENST00000422547	T;T|.	0.15487|.	2.42;2.42|.	5.37|5.37	4.44|4.44	0.53790|0.53790	PDZ/DHR/GLGF (1);|.	0.051552|.	0.85682|.	D|.	0.000000|.	T|T	0.70325|0.70325	0.3211|0.3211	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	P;P|.	0.48294|.	0.908;0.908|.	B;B|.	0.38106|.	0.265;0.265|.	T|T	0.69643|0.69643	-0.5090|-0.5090	10|5	0.31617|.	T|.	0.26|.	-9.5048|-9.5048	12.9761|12.9761	0.58538|0.58538	0.0:0.1626:0.8374:0.0|0.0:0.1626:0.8374:0.0	.|.	211;211|.	Q969H4;Q53GM7|.	CNKR1_HUMAN;.|.	K|K	211|198	ENSP00000354609:E211K;ENSP00000363371:E211K|.	ENSP00000354609:E211K|.	E|R	+|+	1|2	0|0	CNKSR1|CNKSR1	26382281|26382281	0.039000|0.039000	0.19947|0.19947	0.995000|0.995000	0.50966|0.50966	0.025000|0.025000	0.11179|0.11179	0.890000|0.890000	0.28295|0.28295	1.217000|1.217000	0.43442|0.43442	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.627	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2		NM_006314		105	117	0	0	0	0.01441	0	105	117		
PIGV	55650	broad.mit.edu	37	1	27121287	27121287	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27121287C>T	ENST00000374145.1	+	3	1444	c.762C>T	c.(760-762)ctC>ctT	p.L254L	PIGV_ENST00000078527.4_Silent_p.L254L|PIGV_ENST00000449950.2_Intron	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	254					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CCTTTGCCCTCTTTCAGTATT	0.502																																						uc001bmz.2		NaN																	0				ovary(1)	1						c.(760-762)CTC>CTT		phosphatidylinositol glycan class V							145.0	150.0	148.0					1																	27121287		2203	4300	6503	SO:0001819	synonymous_variant	55650				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	g.chr1:27121287C>T	AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.762C>T	1.37:g.27121287C>T						PIGV_uc001bmy.2_Intron|PIGV_uc009vso.2_Silent_p.L254L|PIGV_uc010ofg.1_Intron|PIGV_uc001bna.2_Silent_p.L254L	p.L254L	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	3	1093	+		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	254			Helical; (Potential).		D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Silent	SNP	ENST00000374145.1	37	c.762C>T	CCDS287.1																																																																																				0.502	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1		NM_017837		46	130	0	0	0	0.01441	0	46	130		
PIGV	55650	broad.mit.edu	37	1	27124267	27124267	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27124267C>T	ENST00000374145.1	+	4	2096	c.1414C>T	c.(1414-1416)Cta>Tta	p.L472L	PIGV_ENST00000078527.4_Silent_p.L472L|PIGV_ENST00000449950.2_Silent_p.L244L	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	472					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACGATACATTCTAGGCTACTT	0.502																																						uc001bmz.2		NaN																	0				ovary(1)	1						c.(1414-1416)CTA>TTA		phosphatidylinositol glycan class V							106.0	101.0	103.0					1																	27124267		2203	4300	6503	SO:0001819	synonymous_variant	55650				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	g.chr1:27124267C>T	AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.1414C>T	1.37:g.27124267C>T						PIGV_uc001bmy.2_Silent_p.L237L|PIGV_uc009vso.2_Missense_Mutation_p.S465F|PIGV_uc010ofg.1_Silent_p.L237L|PIGV_uc001bna.2_Silent_p.L472L	p.L472L	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	4	1745	+		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	472			Helical; (Potential).		D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Silent	SNP	ENST00000374145.1	37	c.1414C>T	CCDS287.1																																																																																				0.502	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1		NM_017837		19	62	0	0	0	0.012319	0	19	62		
FCN3	8547	broad.mit.edu	37	1	27700864	27700864	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27700864C>A	ENST00000270879.4	-	2	175	c.170G>T	c.(169-171)gGa>gTa	p.G57V	FCN3_ENST00000354982.2_Missense_Mutation_p.G57V	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	57	Collagen-like.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTGGGGCTCCCTTCTCCCC	0.612																																						uc001boa.2		NaN																	0					0						c.(169-171)GGA>GTA		ficolin 3 isoform 1 precursor							34.0	37.0	36.0					1																	27700864		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27700864C>A	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.170G>T	1.37:g.27700864C>A	ENSP00000270879:p.Gly57Val					FCN3_uc001bob.2_Missense_Mutation_p.G57V	p.G57V	NM_003665	NP_003656	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	2	176	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	57			Collagen-like.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.170G>T	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124870	0.56613	.	.	ENSG00000142748	ENST00000270879;ENST00000354982	D;D	0.99353	-5.77;-5.77	4.17	3.26	0.37387	.	0.114167	0.38005	N	0.001844	D	0.99254	0.9740	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.70227	0.968;0.963	D	0.99624	1.0984	10	0.87932	D	0	.	9.6144	0.39683	0.0:0.8952:0.0:0.1048	.	57;57	Q6UXM4;O75636	.;FCN3_HUMAN	V	57	ENSP00000270879:G57V;ENSP00000347077:G57V	ENSP00000270879:G57V	G	-	2	0	FCN3	27573451	0.028000	0.19301	0.343000	0.25615	0.933000	0.57130	1.268000	0.33062	0.957000	0.37930	0.563000	0.77884	GGA		0.612	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1				11	29	1	0	0.00010058	0.013537	0.000102565	11	29		
AHDC1	27245	broad.mit.edu	37	1	27875316	27875316	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27875316C>A	ENST00000247087.5	-	5	3907	c.3311G>T	c.(3310-3312)gGg>gTg	p.G1104V	AHDC1_ENST00000374011.2_Missense_Mutation_p.G1104V			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1104							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGAGAAGCCCCCGCAAACTG	0.637																																						uc009vsy.2		NaN																	0				central_nervous_system(1)	1						c.(3310-3312)GGG>GTG		AT hook, DNA binding motif, containing 1							34.0	39.0	37.0					1																	27875316		2200	4295	6495	SO:0001583	missense	27245						DNA binding	g.chr1:27875316C>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3311G>T	1.37:g.27875316C>A	ENSP00000247087:p.Gly1104Val					AHDC1_uc009vsz.1_Missense_Mutation_p.G1104V	p.G1104V	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4280	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1104					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.3311G>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.245304	0.39697	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.51071	0.72;0.72	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000014	T	0.52533	0.1740	N	0.24115	0.695	0.58432	D	0.999998	D	0.61697	0.99	P	0.57152	0.814	T	0.56062	-0.8041	10	0.87932	D	0	-12.9846	18.7978	0.92003	0.0:1.0:0.0:0.0	.	1104	Q5TGY3	AHDC1_HUMAN	V	1104	ENSP00000247087:G1104V;ENSP00000363123:G1104V	ENSP00000247087:G1104V	G	-	2	0	AHDC1	27747903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.685000	0.54678	2.735000	0.93741	0.655000	0.94253	GGG		0.637	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3				10	49	1	0	3.86212e-05	0.008291	3.94205e-05	10	49		
FGR	2268	broad.mit.edu	37	1	27939500	27939500	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27939500G>C	ENST00000374005.3	-	13	1803	c.1515C>G	c.(1513-1515)ttC>ttG	p.F505L	FGR_ENST00000374004.1_Missense_Mutation_p.F505L|FGR_ENST00000399173.1_Missense_Mutation_p.F505L|FGR_ENST00000545953.1_Missense_Mutation_p.F439L	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	505	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGGTACTCGAAGGTAGGCC	0.622																																						uc001boj.2		NaN																	0				skin(2)	2						c.(1513-1515)TTC>TTG		proto-oncogene tyrosine-protein kinase FGR							82.0	70.0	74.0					1																	27939500		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27939500G>C	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.1515C>G	1.37:g.27939500G>C	ENSP00000363117:p.Phe505Leu					FGR_uc001boi.2_Missense_Mutation_p.F208L|FGR_uc001bok.2_Missense_Mutation_p.F505L|FGR_uc001bol.2_Missense_Mutation_p.F505L|FGR_uc001bom.2_Missense_Mutation_p.F505L	p.F505L	NM_005248	NP_005239	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	11	1661	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	505			Protein kinase.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.1515C>G	CCDS305.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629038	0.67015	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	4.79	-4.67	0.03319	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000028	D	0.92987	0.7768	M	0.90977	3.165	0.33660	D	0.609594	D	0.89917	1.0	D	0.76071	0.987	D	0.92966	0.6393	10	0.87932	D	0	.	13.6092	0.62065	0.6553:0.0:0.3447:0.0	.	505	P09769	FGR_HUMAN	L	505;439;505;505;505	ENSP00000363117:F505L;ENSP00000445302:F439L;ENSP00000382126:F505L;ENSP00000363116:F505L;ENSP00000363115:F505L	ENSP00000363115:F505L	F	-	3	2	FGR	27812087	0.133000	0.22466	0.898000	0.35279	0.475000	0.33008	-0.304000	0.08199	-0.999000	0.03442	-0.216000	0.12614	TTC		0.622	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1		NM_005248		8	36	0	0	0	0.004482	0	8	36		
FGR	2268	broad.mit.edu	37	1	27950343	27950343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27950343C>T	ENST00000374005.3	-	3	373	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	FGR_ENST00000374004.1_Missense_Mutation_p.G29R|FGR_ENST00000468038.1_5'UTR|FGR_ENST00000399173.1_Missense_Mutation_p.G29R|FGR_ENST00000545953.1_Missense_Mutation_p.G29R	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	29					blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGCTGCCCCGTAGCTTCTG	0.587																																						uc001boj.2		NaN																	0				skin(2)	2						c.(85-87)GGG>AGG		proto-oncogene tyrosine-protein kinase FGR							109.0	90.0	96.0					1																	27950343		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27950343C>T	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.85G>A	1.37:g.27950343C>T	ENSP00000363117:p.Gly29Arg					FGR_uc001bok.2_Missense_Mutation_p.G29R|FGR_uc001bol.2_Missense_Mutation_p.G29R|FGR_uc001bom.2_Missense_Mutation_p.G29R	p.G29R	NM_005248	NP_005239	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	1	231	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	29					D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.85G>A	CCDS305.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754724	0.69648	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	T;T;T;T;T;T	0.78595	-0.77;-0.84;-0.77;-0.77;-0.77;-1.19	4.92	3.99	0.46301	.	0.660664	0.13330	N	0.395969	T	0.61413	0.2345	N	0.19112	0.55	0.20563	N	0.99989	P	0.36315	0.547	B	0.32583	0.148	T	0.47032	-0.9148	10	0.21540	T	0.41	.	11.4938	0.50396	0.0:0.9118:0.0:0.0882	.	29	P09769	FGR_HUMAN	R	29	ENSP00000363117:G29R;ENSP00000445302:G29R;ENSP00000382126:G29R;ENSP00000363116:G29R;ENSP00000363115:G29R;ENSP00000407670:G29R	ENSP00000363115:G29R	G	-	1	0	FGR	27822930	0.000000	0.05858	0.770000	0.31555	0.966000	0.64601	0.005000	0.13129	1.345000	0.45676	0.655000	0.94253	GGG		0.587	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1		NM_005248		12	26	0	0	0	0.010729	0	12	26		
FGR	2268	broad.mit.edu	37	1	27950351	27950351	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27950351C>A	ENST00000374005.3	-	3	365	c.77G>T	c.(76-78)aGa>aTa	p.R26I	FGR_ENST00000374004.1_Missense_Mutation_p.R26I|FGR_ENST00000468038.1_5'UTR|FGR_ENST00000399173.1_Missense_Mutation_p.R26I|FGR_ENST00000545953.1_Missense_Mutation_p.R26I	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	26					blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCGTAGCTTCTGAAGTCCCC	0.587																																						uc001boj.2		NaN																	0				skin(2)	2						c.(76-78)AGA>ATA		proto-oncogene tyrosine-protein kinase FGR							108.0	91.0	97.0					1																	27950351		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27950351C>A	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.77G>T	1.37:g.27950351C>A	ENSP00000363117:p.Arg26Ile					FGR_uc001bok.2_Missense_Mutation_p.R26I|FGR_uc001bol.2_Missense_Mutation_p.R26I|FGR_uc001bom.2_Missense_Mutation_p.R26I	p.R26I	NM_005248	NP_005239	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	1	223	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	26					D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.77G>T	CCDS305.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146453	0.37923	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	T;T;T;T;T;T	0.77877	-0.75;-0.79;-0.75;-0.75;-0.75;-1.13	4.92	3.05	0.35203	.	0.286871	0.25094	N	0.033189	T	0.51449	0.1675	N	0.08118	0	0.09310	N	1	B	0.31519	0.327	B	0.24006	0.05	T	0.41324	-0.9515	10	0.39692	T	0.17	.	5.0209	0.14361	0.1674:0.6509:0.0:0.1817	.	26	P09769	FGR_HUMAN	I	26	ENSP00000363117:R26I;ENSP00000445302:R26I;ENSP00000382126:R26I;ENSP00000363116:R26I;ENSP00000363115:R26I;ENSP00000407670:R26I	ENSP00000363115:R26I	R	-	2	0	FGR	27822938	0.004000	0.15560	0.714000	0.30535	0.892000	0.51952	0.395000	0.20850	0.746000	0.32786	0.655000	0.94253	AGA		0.587	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1		NM_005248		13	25	1	0	4.3838e-07	0.001855	4.5106e-07	13	25		
THEMIS2	9473	broad.mit.edu	37	1	28206495	28206495	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:28206495C>T	ENST00000373921.3	+	3	580	c.576C>T	c.(574-576)ctC>ctT	p.L192L	THEMIS2_ENST00000328928.7_Silent_p.L192L|THEMIS2_ENST00000373925.1_Silent_p.L192L|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	192	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACCTCGTCCTCACCTGCCCCA	0.617																																						uc001bpc.3		NaN																	0				ovary(1)	1						c.(574-576)CTC>CTT		basement membrane-induced gene isoform 3							52.0	43.0	46.0					1																	28206495		2203	4300	6503	SO:0001819	synonymous_variant	9473				cell adhesion|inflammatory response			g.chr1:28206495C>T	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.576C>T	1.37:g.28206495C>T						C1orf38_uc001boz.2_Silent_p.L192L|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Intron|C1orf38_uc010ofo.1_Silent_p.L192L	p.L192L	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	3	604	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	192			CABIT 1.		A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	ENST00000373921.3	37	c.576C>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	C	0.804	-0.754542	0.03041	.	.	ENSG00000130775	ENST00000456990	.	.	.	4.81	1.75	0.24633	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.19945	N	0.999949	.	.	.	.	.	.	T	0.20739	-1.0266	4	.	.	.	-12.5433	3.1455	0.06471	0.1606:0.5446:0.1566:0.1382	.	.	.	.	L	85	.	.	S	+	2	0	C1orf38	28079082	0.853000	0.29707	0.882000	0.34594	0.152000	0.21847	0.353000	0.20130	0.507000	0.28148	0.561000	0.74099	TCA		0.617	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1		NM_004848		4	8	0	0	0	0.009096	0	4	8		
RAB42	115273	broad.mit.edu	37	1	28920495	28920495	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:28920495G>A	ENST00000373826.3	+	2	490	c.184G>A	c.(184-186)Gat>Aat	p.D62N	TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	62					small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCTCGCTGATGCTATCCA	0.617																																						uc001bqu.2		NaN																	0					0						c.(184-186)GAT>AAT		RAB42, member RAS oncogene family							42.0	39.0	40.0					1																	28920495		2203	4300	6503	SO:0001583	missense	115273				small GTPase mediated signal transduction	membrane	GTP binding	g.chr1:28920495G>A	BC033175	CCDS325.1	1p35.3	2014-02-12	2006-04-28		ENSG00000188060	ENSG00000188060		"""RAB, member RAS oncogene"""	28702	protein-coding gene	gene with protein product			"""RAB42, member RAS homolog family"""				Standard	NM_152304		Approved	MGC45806	uc001bqv.3	Q8N4Z0	OTTHUMG00000003656	ENST00000373826.3:c.184G>A	1.37:g.28920495G>A	ENSP00000362932:p.Asp62Asn					RAB42_uc001bqv.2_Missense_Mutation_p.D62N	p.D62N	NM_152304	NP_689517	Q8N4Z0	RAB42_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)	2	490	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	62					B2R5G2	Missense_Mutation	SNP	ENST00000373826.3	37	c.184G>A	CCDS325.1	.	.	.	.	.	.	.	.	.	.	G	9.150	1.016043	0.19355	.	.	ENSG00000188060	ENST00000373826	T	0.76578	-1.03	5.46	-10.9	0.00192	.	1.491450	0.04080	N	0.309449	T	0.48519	0.1504	N	0.11651	0.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30995	-0.9959	10	0.29301	T	0.29	.	1.5274	0.02528	0.4742:0.1281:0.175:0.2228	.	62	Q8N4Z0	RAB42_HUMAN	N	62	ENSP00000362932:D62N	ENSP00000362932:D62N	D	+	1	0	RAB42	28793082	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	-1.588000	0.02106	-1.720000	0.01380	-0.367000	0.07326	GAT		0.617	RAB42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010371.1		NM_152304		23	11	0	0	0	0.014323	0	23	11		
SPOCD1	90853	broad.mit.edu	37	1	32279666	32279666	+	Missense_Mutation	SNP	C	C	G	rs199559369		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:32279666C>G	ENST00000360482.2	-	2	1398	c.1269G>C	c.(1267-1269)aaG>aaC	p.K423N	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.K423N|SPOCD1_ENST00000533231.1_Missense_Mutation_p.K423N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	423					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCTTCAGGTTCTTAGTGCCCT	0.622																																						uc001bts.1		NaN																	0				ovary(5)|breast(1)	6						c.(1267-1269)AAG>AAC		SPOC domain containing 1							47.0	47.0	47.0					1																	32279666		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32279666C>G	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1269G>C	1.37:g.32279666C>G	ENSP00000353670:p.Lys423Asn					SPOCD1_uc001btu.2_Missense_Mutation_p.K423N|SPOCD1_uc001btv.2_Intron	p.K423N	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	2	1327	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	423					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.1269G>C	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662364	0.29515	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.38887	1.51;1.11;1.5	2.24	1.26	0.21427	.	.	.	.	.	T	0.23688	0.0573	N	0.14661	0.345	0.09310	N	1	P;P	0.42518	0.782;0.675	B;B	0.40534	0.332;0.178	T	0.11470	-1.0586	9	0.72032	D	0.01	.	4.0523	0.09801	0.0:0.7635:0.0:0.2365	.	423;423	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	N	423	ENSP00000353670:K423N;ENSP00000362752:K423N;ENSP00000435851:K423N	ENSP00000353670:K423N	K	-	3	2	SPOCD1	32052253	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.074000	0.11450	0.467000	0.27218	0.462000	0.41574	AAG		0.622	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1		NM_144569		30	37	0	0	0	0.010818	0	30	37		
CCDC28B	79140	broad.mit.edu	37	1	32670814	32670814	+	Missense_Mutation	SNP	G	G	A	rs374918488		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:32670814G>A	ENST00000373602.5	+	6	915	c.568G>A	c.(568-570)Gag>Aag	p.E190K	CCDC28B_ENST00000421922.2_3'UTR|IQCC_ENST00000291358.6_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|CCDC28B_ENST00000483009.1_3'UTR|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_5'Flank	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	190					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCACCTGGCCGAGAACGCCGA	0.607																																						uc001bul.1		NaN																	0					0						c.(568-570)GAG>AAG		coiled-coil domain containing 28B							30.0	37.0	35.0					1																	32670814		2138	4250	6388	SO:0001583	missense	79140							g.chr1:32670814G>A	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.568G>A	1.37:g.32670814G>A	ENSP00000362704:p.Glu190Lys					CCDC28B_uc001buk.2_3'UTR|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	p.E190K	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN			6	700	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	190					A8K789|Q8TBV8	Missense_Mutation	SNP	ENST00000373602.5	37	c.568G>A	CCDS354.2	.	.	.	.	.	.	.	.	.	.	G	36	5.722148	0.96839	.	.	ENSG00000160050	ENST00000373602	T	0.50001	0.76	4.89	4.89	0.63831	.	.	.	.	.	T	0.59542	0.2201	L	0.40543	1.245	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.60063	-0.7336	9	0.56958	D	0.05	.	16.3811	0.83461	0.0:0.0:1.0:0.0	.	190	Q9BUN5	CC28B_HUMAN	K	190	ENSP00000362704:E190K	ENSP00000362704:E190K	E	+	1	0	CCDC28B	32443401	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.332000	0.72934	2.717000	0.92951	0.561000	0.74099	GAG		0.607	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4		NM_024296		4	16	0	0	0	0.009096	0	4	16		
YARS	8565	broad.mit.edu	37	1	33245125	33245125	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:33245125C>T	ENST00000373477.4	-	12	2243		c.e12-1		YARS_ENST00000469100.1_Splice_Site	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase						apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TATCCCTTCTCTGGGAAGACA	0.562																																						uc001bvy.1		NaN																	0				skin(2)	2						c.e12-1		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						50.0	49.0	49.0					1																	33245125		2203	4300	6503	SO:0001630	splice_region_variant	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33245125C>T	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1335-1G>A	1.37:g.33245125C>T						YARS_uc001bvw.1_Splice_Site_p.I105_splice|YARS_uc001bvx.1_Splice_Site_p.I96_splice	p.I445_splice	NM_003680	NP_003671	P54577	SYYC_HUMAN			12	2123	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)						B3KWK4|D3DPQ4|O43276|Q53EN1	Splice_Site	SNP	ENST00000373477.4	37	c.1335_splice	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925762	0.92319	.	.	ENSG00000134684	ENST00000373477	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1259	0.97981	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YARS	33017712	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.675000	0.68123	2.835000	0.97688	0.650000	0.86243	.		0.562	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1		NM_003680	Intron	20	47	0	0	0	0.007413	0	20	47		
YARS	8565	broad.mit.edu	37	1	33252626	33252626	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:33252626C>T	ENST00000373477.4	-	7	1643	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	245					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AGGCCTTCTTCAGTTTTTTCT	0.443																																						uc001bvy.1		NaN																	0				skin(2)	2						c.(733-735)CTG>CTA		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						145.0	126.0	133.0					1																	33252626		2203	4300	6503	SO:0001819	synonymous_variant	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33252626C>T	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.735G>A	1.37:g.33252626C>T							p.L245L	NM_003680	NP_003671	P54577	SYYC_HUMAN			7	1523	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	245					B3KWK4|D3DPQ4|O43276|Q53EN1	Silent	SNP	ENST00000373477.4	37	c.735G>A	CCDS368.1																																																																																				0.443	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1		NM_003680		57	45	0	0	0	0.01441	0	57	45		
ZMYM6	9204	broad.mit.edu	37	1	35476590	35476590	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:35476590C>T	ENST00000357182.4	-	9	1337	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	ZMYM6_ENST00000487874.1_Silent_p.L370L|ZMYM6_ENST00000373340.2_Silent_p.L370L|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	370					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGCCCTGAGACAGGGGCACCG	0.478																																						uc001byh.2		NaN																	0				ovary(3)	3						c.(1108-1110)CTG>CTA		zinc finger protein 258							58.0	58.0	58.0					1																	35476590		2203	4300	6503	SO:0001819	synonymous_variant	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35476590C>T	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1110G>A	1.37:g.35476590C>T						ZMYM6_uc001byf.1_Silent_p.L370L|ZMYM6_uc010oht.1_Silent_p.L273L|ZMYM6_uc009vup.2_Silent_p.L176L|ZMYM6_uc009vuq.1_Silent_p.L370L|ZMYM6_uc009vur.1_Silent_p.L176L	p.L370L	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			9	1338	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	370			MYM-type 5.		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	37	c.1110G>A	CCDS387.2																																																																																				0.478	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1		NM_007167		17	51	0	0	0	0.008871	0	17	51		
ZMYM1	79830	broad.mit.edu	37	1	35575944	35575944	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:35575944C>T	ENST00000373330.1	+	8	1031	c.857C>T	c.(856-858)tCa>tTa	p.S286L	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S286L			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	286						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGAAGCCCTCAGATGAAATG	0.353																																						uc001bym.2		NaN																	0					0						c.(856-858)TCA>TTA		zinc finger, MYM domain containing 1							160.0	154.0	156.0					1																	35575944		1882	4149	6031	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35575944C>T	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.857C>T	1.37:g.35575944C>T	ENSP00000362427:p.Ser286Leu					ZMYM1_uc001byn.2_Missense_Mutation_p.S286L|ZMYM1_uc010ohu.1_Missense_Mutation_p.S286L|ZMYM1_uc001byo.2_5'UTR|ZMYM1_uc009vut.2_Missense_Mutation_p.S211L	p.S286L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			8	1005	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	286					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.857C>T	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553239	0.65425	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.27	4.27	0.50696	TRASH (1);	0.259745	0.20570	N	0.089756	T	0.45094	0.1325	L	0.61218	1.895	0.47407	D	0.999414	B;P	0.39282	0.021;0.666	B;B	0.32149	0.008;0.141	T	0.57831	-0.7743	10	0.72032	D	0.01	-7.1775	16.8582	0.86011	0.0:1.0:0.0:0.0	.	286;286	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	L	286;286;211;286	ENSP00000394233:S286L;ENSP00000352920:S286L;ENSP00000362426:S211L;ENSP00000362427:S286L	ENSP00000352920:S286L	S	+	2	0	ZMYM1	35348531	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	4.736000	0.62059	2.371000	0.80710	0.655000	0.94253	TCA		0.353	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1		NM_024772		34	118	0	0	0	0.012213	0	34	118		
KIAA0319L	79932	broad.mit.edu	37	1	35972601	35972601	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:35972601G>C	ENST00000325722.3	-	3	512	c.278C>G	c.(277-279)tCt>tGt	p.S93C		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	93	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGGCAGGCAGAGTCCTGGCA	0.562																																						uc001byx.2		NaN																	0				skin(2)	2						c.(277-279)TCT>TGT		dyslexia susceptibility 2-like							40.0	43.0	42.0					1																	35972601		2200	4297	6497	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35972601G>C	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.278C>G	1.37:g.35972601G>C	ENSP00000318406:p.Ser93Cys					KIAA0319L_uc010ohw.1_RNA|KIAA0319L_uc001byz.2_Missense_Mutation_p.S93C|KIAA0319L_uc010ohx.1_Missense_Mutation_p.S93C	p.S93C	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			3	536	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	93			MANSC.|Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.278C>G	CCDS390.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080751	0.55753	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579;ENST00000373258;ENST00000469892;ENST00000494948	T;T;T;T;T	0.48522	3.11;3.1;2.6;1.39;0.81	5.77	4.78	0.61160	Seven cysteines (1);	0.210963	0.33792	N	0.004553	T	0.44222	0.1283	N	0.24115	0.695	0.26699	N	0.971198	P;D;P	0.63880	0.948;0.993;0.724	P;P;B	0.50617	0.646;0.533;0.343	T	0.39333	-0.9619	10	0.52906	T	0.07	-6.7417	15.0201	0.71624	0.0:0.0:0.8486:0.1514	.	93;93;93	B4DYG9;B1AN14;Q8IZA0	.;.;K319L_HUMAN	C	93	ENSP00000318406:S93C;ENSP00000395883:S93C;ENSP00000407576:S93C;ENSP00000362355:S93C;ENSP00000419396:S93C	ENSP00000318406:S93C	S	-	2	0	KIAA0319L	35745188	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.346000	0.59367	2.717000	0.92951	0.650000	0.86243	TCT		0.562	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2		NM_024874		7	29	0	0	0	0.010729	0	7	29		
C1orf216	127703	broad.mit.edu	37	1	36181317	36181317	+	Silent	SNP	G	G	A	rs11554216		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:36181317G>A	ENST00000270815.4	-	2	1376	c.606C>T	c.(604-606)ttC>ttT	p.F202F	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	202										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGATGGTGTCGAAGCTCTCCT	0.607											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bzh.1		NaN																	0				skin(1)	1						c.(604-606)TTC>TTT		hypothetical protein LOC127703		G		0,4406		0,0,2203	121.0	121.0	121.0		606	-6.4	0.9	1	dbSNP_120	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C1orf216	NM_152374.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		202/230	36181317	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	127703							g.chr1:36181317G>A	AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.606C>T	1.37:g.36181317G>A			OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861		p.F202F	NM_152374	NP_689587	Q8TAB5	CA216_HUMAN			2	1094	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	202					D3DPS1|Q8N8N6	Silent	SNP	ENST00000270815.4	37	c.606C>T	CCDS395.1																																																																																				0.607	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3		NM_152374		31	90	0	0	0	0.012213	0	31	90		
MAP7D1	55700	broad.mit.edu	37	1	36643602	36643602	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:36643602C>A	ENST00000373151.2	+	9	1724	c.1508C>A	c.(1507-1509)tCc>tAc	p.S503Y	MAP7D1_ENST00000373148.4_Missense_Mutation_p.S49Y|MAP7D1_ENST00000373150.4_Missense_Mutation_p.S471Y|MAP7D1_ENST00000316156.4_Missense_Mutation_p.S466Y	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	503	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				ACCACTGCATCCCCCAAGGGG	0.701																																						uc001bzz.2		NaN																	0				ovary(3)|breast(2)	5						c.(1507-1509)TCC>TAC		MAP7 domain containing 1							44.0	46.0	45.0					1																	36643602		2203	4300	6503	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36643602C>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1508C>A	1.37:g.36643602C>A	ENSP00000362244:p.Ser503Tyr					MAP7D1_uc001caa.2_Missense_Mutation_p.S471Y|MAP7D1_uc001cab.2_Missense_Mutation_p.S466Y|MAP7D1_uc001cac.2_Missense_Mutation_p.S203Y|MAP7D1_uc001cad.2_Missense_Mutation_p.S49Y	p.S503Y	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN			9	1724	+		Myeloproliferative disorder(586;0.0393)	503			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.1508C>A	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013803	0.19277	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373148	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.04	5.04	0.67666	.	0.235743	0.22196	N	0.063302	T	0.68622	0.3021	M	0.62723	1.935	0.09310	N	1	P;D;D;B;D	0.71674	0.513;0.998;0.998;0.372;0.998	B;D;D;B;D	0.81914	0.299;0.991;0.995;0.206;0.991	T	0.61367	-0.7077	10	0.62326	D	0.03	-7.0245	13.7522	0.62915	0.0:1.0:0.0:0.0	.	49;503;466;471;503	Q3KQU3-3;D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;.;.;MA7D1_HUMAN	Y	466;471;503;49	ENSP00000320228:S466Y;ENSP00000362243:S471Y;ENSP00000362244:S503Y;ENSP00000362241:S49Y	ENSP00000320228:S466Y	S	+	2	0	MAP7D1	36416189	0.142000	0.22610	0.998000	0.56505	0.010000	0.07245	2.848000	0.48278	2.623000	0.88846	0.655000	0.94253	TCC		0.701	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1		NM_018067		5	22	1	0	0.00116845	0.001168	0.00118816	5	22		
RHBDL2	54933	broad.mit.edu	37	1	39352269	39352269	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:39352269C>T	ENST00000289248.2	-	8	1827	c.819G>A	c.(817-819)ctG>ctA	p.L273L	RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000538156.1_Silent_p.L340L|RHBDL2_ENST00000372990.1_Silent_p.L273L|RHBDL2_ENST00000372985.3_Silent_p.L353L			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	273			L -> M (in dbSNP:rs2147914).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTGGATCTTTCAGCAGTGCTT	0.433																																						uc001ccu.1		NaN																	0					0						c.(817-819)CTG>CTA		rhomboid protease 2							126.0	118.0	121.0					1																	39352269		2203	4300	6503	SO:0001819	synonymous_variant	54933				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr1:39352269C>T	AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"""rhomboid (veinlet, Drosophila)-like 2"""				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.819G>A	1.37:g.39352269C>T						RHBDL2_uc010oin.1_3'UTR|RHBDL2_uc010oio.1_Silent_p.L353L	p.L273L	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		8	1047	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	273					B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Silent	SNP	ENST00000289248.2	37	c.819G>A	CCDS30680.1																																																																																				0.433	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001216.1		NM_017821		28	94	0	0	0	0.00632	0	28	94		
MACF1	23499	broad.mit.edu	37	1	39757669	39757669	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:39757669G>A	ENST00000372915.3	+	15	1975	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	MACF1_ENST00000317713.7_Missense_Mutation_p.E630K|MACF1_ENST00000361689.2_Missense_Mutation_p.E630K|MACF1_ENST00000539005.1_Missense_Mutation_p.E630K|MACF1_ENST00000564288.1_Missense_Mutation_p.E625K|MACF1_ENST00000545844.1_Missense_Mutation_p.E630K|MACF1_ENST00000567887.1_Missense_Mutation_p.E662K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	630					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TACGAGTGTAGAAGAGCTGGG	0.507																																						uc010ois.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(1888-1890)GAA>AAA		microfilament and actin filament cross-linker							137.0	114.0	122.0					1																	39757669		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39757669G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1888G>A	1.37:g.39757669G>A	ENSP00000362006:p.Glu630Lys					MACF1_uc001cda.1_Missense_Mutation_p.E538K	p.E630K	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		17	2093	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	630					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.1888G>A		.	.	.	.	.	.	.	.	.	.	G	23.8	4.459065	0.84317	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.91	5.91	0.95273	.	.	.	.	.	D	0.92616	0.7654	L	0.43152	1.355	0.80722	D	1	B;P	0.38978	0.007;0.652	B;P	0.47573	0.024;0.55	D	0.91639	0.5325	9	0.49607	T	0.09	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	630;595	F8W8Q1;Q9UPN3-3	.;.	K	630;630;630;630;630;588;779;790	ENSP00000439537:E630K;ENSP00000362006:E630K;ENSP00000354573:E630K;ENSP00000313438:E630K;ENSP00000444364:E630K;ENSP00000435070:E588K;ENSP00000437059:E779K	ENSP00000313438:E630K	E	+	1	0	MACF1	39530256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.427000	0.73378	2.794000	0.96219	0.655000	0.94253	GAA		0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		27	30	0	0	0	0.003954	0	27	30		
MACF1	23499	broad.mit.edu	37	1	39919397	39919397	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:39919397G>C	ENST00000372915.3	+	87	20545	c.20458G>C	c.(20458-20460)Gaa>Caa	p.E6820Q	MACF1_ENST00000317713.7_Missense_Mutation_p.E4862Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E4862Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E4732Q|MACF1_ENST00000564288.1_Missense_Mutation_p.E6921Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E5364Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E4862Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E6958Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6820					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGAAAGTAGAAGAAAAGCG	0.413																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(16090-16092)GAA>CAA		microfilament and actin filament cross-linker							140.0	139.0	139.0					1																	39919397		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39919397G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20458G>C	1.37:g.39919397G>C	ENSP00000362006:p.Glu6820Gln					MACF1_uc010ois.1_Missense_Mutation_p.E4862Q	p.E5364Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		53	16221	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16090G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.251047|5.251047	0.95305|0.95305	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.50277|.	0.75;0.75;0.75;0.75;0.75;0.75|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.64402|.	D|.	0.000008|.	T|T	0.71151|0.71151	0.3306|0.3306	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.987;0.997|.	T|T	0.66300|0.66300	-0.5958|-0.5958	10|5	0.59425|.	D|.	0.04|.	.|.	19.8632|19.8632	0.96793|0.96793	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	6820;4862|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	Q|T	4862;6820;4862;4862;4732;5364|3865	ENSP00000439537:E4862Q;ENSP00000362006:E6820Q;ENSP00000354573:E4862Q;ENSP00000313438:E4862Q;ENSP00000444364:E4732Q;ENSP00000289893:E5364Q|.	ENSP00000289893:E5364Q|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39691984|39691984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.869000|9.869000	0.99810|0.99810	2.704000|2.704000	0.92352|0.92352	0.561000|0.561000	0.74099|0.74099	GAA|AGA		0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		92	84	0	0	0	0.01441	0	92	84		
MACF1	23499	broad.mit.edu	37	1	39950348	39950348	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:39950348G>A	ENST00000372915.3	+	96	21943	c.21856G>A	c.(21856-21858)Gat>Aat	p.D7286N	MACF1_ENST00000317713.7_Missense_Mutation_p.D5328N|MACF1_ENST00000361689.2_Missense_Mutation_p.D5328N|MACF1_ENST00000539005.1_Missense_Mutation_p.D5198N|MACF1_ENST00000564288.1_Missense_Mutation_p.D7453N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5836N|MACF1_ENST00000545844.1_Missense_Mutation_p.D5328N|MACF1_ENST00000567887.1_Missense_Mutation_p.D7490N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7286	C-terminal tail. {ECO:0000250}.|Ser-rich.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTTGCTGGTGATACCAGCAA	0.458																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(17506-17508)GAT>AAT		microfilament and actin filament cross-linker							106.0	114.0	111.0					1																	39950348		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39950348G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21856G>A	1.37:g.39950348G>A	ENSP00000362006:p.Asp7286Asn					MACF1_uc010ois.1_Missense_Mutation_p.D5328N|MACF1_uc001cde.1_Missense_Mutation_p.D242N|MACF1_uc001cdf.1_Missense_Mutation_p.D211N|MACF1_uc001cdg.2_Missense_Mutation_p.D156N|MACF1_uc001cdh.2_Missense_Mutation_p.D119N	p.D5836N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		63	17637	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7286			Ser-rich.|C-terminal tail (By similarity).		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.17506G>A		.	.	.	.	.	.	.	.	.	.	G	20.9	4.073899	0.76415	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218	T;T;T;T;T;T	0.63744	-0.02;0.04;-0.02;-0.06;0.13;1.14	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000004	T	0.73791	0.3632	L	0.44542	1.39	0.80722	D	1	P;B;B;D;D;P	0.71674	0.949;0.022;0.014;0.998;0.997;0.895	P;B;B;D;D;P	0.78314	0.599;0.037;0.02;0.991;0.954;0.573	T	0.69420	-0.5150	9	.	.	.	.	18.7374	0.91761	0.0:0.0:1.0:0.0	.	7286;5328;4331;156;5836;265	Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7	MACF1_HUMAN;.;.;.;MACF4_HUMAN;.	N	5328;7286;5328;5328;5198;5836;242	ENSP00000439537:D5328N;ENSP00000362006:D7286N;ENSP00000354573:D5328N;ENSP00000313438:D5328N;ENSP00000444364:D5198N;ENSP00000289893:D5836N	.	D	+	1	0	MACF1	39722935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.824000	0.75288	2.861000	0.98227	0.655000	0.94253	GAT		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		39	145	0	0	0	0.007835	0	39	145		
PABPC4	8761	broad.mit.edu	37	1	40041525	40041525	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:40041525G>A	ENST00000372857.3	-	1	891	c.99C>T	c.(97-99)ccC>ccT	p.P33P	PABPC4_ENST00000372862.3_Silent_p.P33P|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Silent_p.P33P|PABPC4_ENST00000372856.3_Silent_p.P33P	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	33	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGGCCCCGCGGGGCTGAACT	0.647																																						uc010oiv.1		NaN																	0					0						c.(97-99)CCC>CCT		poly A binding protein, cytoplasmic 4 isoform 2							35.0	37.0	36.0					1																	40041525		2203	4300	6503	SO:0001819	synonymous_variant	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40041525G>A	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.99C>T	1.37:g.40041525G>A						PABPC4_uc001cdl.2_Silent_p.P33P|PABPC4_uc001cdm.2_Silent_p.P33P	p.P33P	NM_003819	NP_003810	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	997	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	33			RRM 1.		B1ANQ8|Q4VC03|Q6P0N3	Silent	SNP	ENST00000372857.3	37	c.99C>T	CCDS438.1																																																																																				0.647	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1		NM_001135653		6	17	0	0	0	0.001984	0	6	17		
ZFP69B	65243	broad.mit.edu	37	1	40929203	40929203	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:40929203C>T	ENST00000411995.2	+	6	1922	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	ZFP69B_ENST00000361584.3_Missense_Mutation_p.S414L|RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	516					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGCTGTAGTTCATCCCTTATT	0.353																																						uc001cfn.1		NaN																	0				ovary(2)	2						c.(1546-1548)TCA>TTA		zinc finger protein 643							52.0	54.0	54.0					1																	40929203		2203	4298	6501	SO:0001583	missense	65243				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40929203C>T	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1547C>T	1.37:g.40929203C>T	ENSP00000399664:p.Ser516Leu					ZNF643_uc001cfl.1_Missense_Mutation_p.S414L|ZNF643_uc001cfm.1_Missense_Mutation_p.S382L	p.S516L	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)		5	1844	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	516			C2H2-type 9.		Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.1547C>T	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	16.65	3.183588	0.57800	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.62364	0.03;0.03	3.33	3.33	0.38152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67674	0.2918	L	0.52266	1.64	0.22171	N	0.999316	D	0.63046	0.992	P	0.58721	0.844	T	0.56517	-0.7966	9	0.87932	D	0	.	8.7928	0.34861	0.0:0.7678:0.2322:0.0	.	516	Q9UJL9	ZN643_HUMAN	L	447;516;414	ENSP00000399664:S516L;ENSP00000354547:S414L	ENSP00000354547:S414L	S	+	2	0	ZNF643	40701790	.	.	0.999000	0.59377	0.993000	0.82548	.	.	2.158000	0.67659	0.655000	0.94253	TCA		0.353	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2		NM_023070		20	73	0	0	0	0.010504	0	20	73		
KCNQ4	9132	broad.mit.edu	37	1	41283961	41283961	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:41283961C>T	ENST00000347132.5	+	3	613	c.531C>T	c.(529-531)atC>atT	p.I177I	KCNQ4_ENST00000509682.2_Splice_Site_p.I177I	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	177					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TCTGTGTCATCGGTAATGAGG	0.647																																						uc001cgh.1		NaN																	0				central_nervous_system(1)	1						c.(529-531)ATC>ATT		potassium voltage-gated channel KQT-like protein							89.0	85.0	86.0					1																	41283961		2203	4300	6503	SO:0001630	splice_region_variant	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41283961C>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.532+1C>T	1.37:g.41283961C>T						KCNQ4_uc001cgi.1_Silent_p.I177I	p.I177I	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		3	613	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	177			Helical; Name=Segment S3; (Potential).		O96025	Silent	SNP	ENST00000347132.5	37	c.531C>T	CCDS456.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079002	0.36662	.	.	ENSG00000117013	ENST00000443478	.	.	.	4.76	0.549	0.17213	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.1468	6.0461	0.19760	0.3828:0.474:0.0:0.1432	.	.	.	.	X	73	.	.	R	+	1	2	KCNQ4	41056548	0.994000	0.37717	0.998000	0.56505	0.776000	0.43924	0.462000	0.21956	-0.033000	0.13736	-0.824000	0.03097	CGA		0.647	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1		NM_004700	Silent	35	41	0	0	0	0.003755	0	35	41		
EDN2	1907	broad.mit.edu	37	1	41949827	41949827	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:41949827G>A	ENST00000372587.4	-	2	181	c.112C>T	c.(112-114)Cat>Tat	p.H38Y	EDN2_ENST00000490783.1_Intron	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	38					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTGGGCATGAGATGAGGAC	0.627																																						uc001cgx.2		NaN																	0					0						c.(112-114)CAT>TAT		endothelin 2 preproprotein							50.0	42.0	45.0					1																	41949827		2203	4300	6503	SO:0001583	missense	1907				artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	g.chr1:41949827G>A	M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"""Endogenous ligands"""	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.112C>T	1.37:g.41949827G>A	ENSP00000361668:p.His38Tyr					EDN2_uc001cgu.2_RNA|EDN2_uc001cgv.2_RNA|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_RNA|EDN2_uc009vwi.2_RNA|EDN2_uc009vwj.2_RNA	p.H38Y	NM_001956	NP_001947	P20800	EDN2_HUMAN			2	184	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	38					Q5T1R3	Missense_Mutation	SNP	ENST00000372587.4	37	c.112C>T	CCDS462.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493385	0.26774	.	.	ENSG00000127129	ENST00000372587	D	0.83914	-1.78	5.22	0.755	0.18415	.	0.722904	0.12506	N	0.462894	T	0.63022	0.2476	N	0.08118	0	0.09310	N	1	B	0.32829	0.386	B	0.25759	0.063	T	0.54997	-0.8209	10	0.62326	D	0.03	4.7501	8.634	0.33936	0.0:0.2638:0.4854:0.2507	.	38	P20800	EDN2_HUMAN	Y	38	ENSP00000361668:H38Y	ENSP00000361668:H38Y	H	-	1	0	EDN2	41722414	0.576000	0.26700	0.001000	0.08648	0.013000	0.08279	1.820000	0.39032	0.282000	0.22254	0.561000	0.74099	CAT		0.627	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000016983.1		NM_001956		12	22	0	0	0	0.013537	0	12	22		
FOXJ3	22887	broad.mit.edu	37	1	42647606	42647606	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:42647606G>C	ENST00000372572.1	-	14	2046	c.1735C>G	c.(1735-1737)Cca>Gca	p.P579A	FOXJ3_ENST00000545068.1_Missense_Mutation_p.P579A|FOXJ3_ENST00000361776.1_Missense_Mutation_p.P545A|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P579A|FOXJ3_ENST00000372571.1_Missense_Mutation_p.P93A|FOXJ3_ENST00000372573.1_Missense_Mutation_p.P579A	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	579					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTGTTCCTGGAGTGCTGAGT	0.488																																						uc001che.2		NaN																	0				ovary(2)	2						c.(1735-1737)CCA>GCA		forkhead box J3							76.0	67.0	70.0					1																	42647606		2203	4300	6503	SO:0001583	missense	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42647606G>C	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1735C>G	1.37:g.42647606G>C	ENSP00000361653:p.Pro579Ala					FOXJ3_uc001chf.2_Missense_Mutation_p.P579A|FOXJ3_uc001chg.2_Missense_Mutation_p.P579A	p.P579A	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN			14	2047	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	579					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.1735C>G	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929404	0.34096	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000372571;ENST00000361346;ENST00000361776;ENST00000545068	D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.37;-3.4	5.37	4.44	0.53790	.	0.141778	0.45361	N	0.000362	D	0.87192	0.6116	L	0.27053	0.805	0.34404	D	0.695597	B	0.06786	0.001	B	0.04013	0.001	D	0.85946	0.1461	10	0.48119	T	0.1	.	9.2261	0.37407	0.0:0.1592:0.6759:0.1648	.	579	Q9UPW0	FOXJ3_HUMAN	A	579;579;93;579;545;579	ENSP00000361654:P579A;ENSP00000361653:P579A;ENSP00000354620:P579A;ENSP00000354449:P545A;ENSP00000439044:P579A	ENSP00000354620:P579A	P	-	1	0	FOXJ3	42420193	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.675000	0.25232	1.340000	0.45581	0.655000	0.94253	CCA		0.488	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1		NM_014947		7	25	0	0	0	0.001984	0	7	25		
FOXJ3	22887	broad.mit.edu	37	1	42671497	42671497	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:42671497C>T	ENST00000372572.1	-	8	877	c.566G>A	c.(565-567)gGa>gAa	p.G189E	FOXJ3_ENST00000545068.1_Missense_Mutation_p.G189E|FOXJ3_ENST00000361776.1_Intron|FOXJ3_ENST00000361346.1_Missense_Mutation_p.G189E|FOXJ3_ENST00000372573.1_Missense_Mutation_p.G189E	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	189					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACACTCCATTCCCAAAGAATC	0.318																																						uc001che.2		NaN																	0				ovary(2)	2						c.(565-567)GGA>GAA		forkhead box J3							89.0	86.0	87.0					1																	42671497		2203	4300	6503	SO:0001583	missense	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42671497C>T	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.566G>A	1.37:g.42671497C>T	ENSP00000361653:p.Gly189Glu					FOXJ3_uc001chf.2_Missense_Mutation_p.G189E|FOXJ3_uc001chg.2_Missense_Mutation_p.G189E|FOXJ3_uc001chh.1_Intron	p.G189E	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN			8	878	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	189					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.566G>A	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294677	0.60086	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000545068	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.95	5.95	0.96441	.	2.984760	0.00819	N	0.001578	D	0.94650	0.8275	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82291	-0.0530	10	0.05721	T	0.95	.	17.8727	0.88815	0.0:1.0:0.0:0.0	.	189	Q9UPW0	FOXJ3_HUMAN	E	189	ENSP00000361654:G189E;ENSP00000361653:G189E;ENSP00000354620:G189E;ENSP00000439044:G189E	ENSP00000354620:G189E	G	-	2	0	FOXJ3	42444084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.707000	0.61852	2.826000	0.97356	0.563000	0.77884	GGA		0.318	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1		NM_014947		33	38	0	0	0	0.004289	0	33	38		
ZMYND12	84217	broad.mit.edu	37	1	42921666	42921666	+	Start_Codon_SNP	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:42921666C>T	ENST00000372565.3	-	1	272	c.3G>A	c.(1-3)atG>atA	p.M1I	ZMYND12_ENST00000433602.2_5'UTR|PPCS_ENST00000372561.3_5'Flank|PPCS_ENST00000372562.1_5'Flank|PPCS_ENST00000372560.3_5'Flank|PPCS_ENST00000455780.1_5'Flank|PPCS_ENST00000372556.3_5'Flank	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	1						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGATCACATTCATGGTGCAGC	0.637																																						uc001chj.2		NaN																	0				ovary(1)	1						c.(1-3)ATG>ATA		zinc finger, MYND-type containing 12 isoform 1							51.0	42.0	45.0					1																	42921666		2203	4300	6503	SO:0001582	initiator_codon_variant	84217					intracellular	zinc ion binding	g.chr1:42921666C>T	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.3G>A	1.37:g.42921666C>T	ENSP00000361646:p.Met1Ile					ZMYND12_uc010ojt.1_5'UTR|PPCS_uc001chk.2_5'Flank|PPCS_uc001chl.2_5'Flank	p.M1I	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN			1	273	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.3G>A	CCDS467.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830394	0.71258	.	.	ENSG00000066185	ENST00000372565	T	0.47177	0.85	5.04	5.04	0.67666	.	0.204893	0.49305	D	0.000143	T	0.66587	0.2804	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.70163	-0.4947	9	0.87932	D	0	-20.1759	15.9148	0.79503	0.0:1.0:0.0:0.0	.	1	Q9H0C1	ZMY12_HUMAN	I	1	ENSP00000361646:M1I	ENSP00000361646:M1I	M	-	3	0	ZMYND12	42694253	1.000000	0.71417	0.997000	0.53966	0.157000	0.22087	4.315000	0.59172	2.612000	0.88384	0.563000	0.77884	ATG		0.637	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1		NM_032257	Missense_Mutation	4	16	0	0	0	0.009096	0	4	16		
LEPRE1	64175	broad.mit.edu	37	1	43213045	43213045	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:43213045G>A	ENST00000296388.5	-	14	2004	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Silent_p.F651F|LEPRE1_ENST00000236040.4_Silent_p.F651F			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	651	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCCTGAAGAGAATCCCACGG	0.592											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001chv.2		NaN																	0				ovary(3)|lung(1)	4						c.(1951-1953)TTC>TTT		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						54.0	55.0	55.0					1																	43213045		2202	4292	6494	SO:0001819	synonymous_variant	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43213045G>A	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1953C>T	1.37:g.43213045G>A			OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914	LEPRE1_uc001chw.2_Silent_p.F651F|LEPRE1_uc001chx.3_Silent_p.F651F	p.F651F	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			14	2066	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	651			Fe2OG dioxygenase.		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Silent	SNP	ENST00000296388.5	37	c.1953C>T	CCDS472.2																																																																																				0.592	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2		NM_022356		20	50	0	0	0	0.007413	0	20	50		
PTPRF	5792	broad.mit.edu	37	1	44019601	44019601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:44019601C>T	ENST00000359947.4	+	5	708	c.368C>T	c.(367-369)tCa>tTa	p.S123L	PTPRF_ENST00000372413.3_Missense_Mutation_p.S123L|PTPRF_ENST00000372414.3_Missense_Mutation_p.S123L|PTPRF_ENST00000438120.1_Missense_Mutation_p.S123L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	123	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCAAGCTCTCAGTGCTCGAA	0.602																																						uc001cjr.2		NaN																	0		p.G123E(1)		ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(367-369)TCA>TTA		protein tyrosine phosphatase, receptor type, F							146.0	99.0	114.0					1																	44019601		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44019601C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.368C>T	1.37:g.44019601C>T	ENSP00000353030:p.Ser123Leu					PTPRF_uc001cjq.3_Missense_Mutation_p.S123L|PTPRF_uc001cjs.2_Missense_Mutation_p.S123L|PTPRF_uc001cjt.3_Missense_Mutation_p.S123L	p.S123L	NM_002840	NP_002831	P10586	PTPRF_HUMAN			5	708	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	123			Extracellular (Potential).|Ig-like C2-type 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.368C>T	CCDS489.2	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354690	0.41700	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.74	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.29239	N	0.012726	T	0.55226	0.1907	N	0.13371	0.34	0.80722	D	1	P;B;B;P	0.49090	0.919;0.294;0.345;0.91	P;B;B;P	0.45276	0.475;0.108;0.101;0.462	T	0.57046	-0.7878	10	0.30078	T	0.28	.	18.1107	0.89534	0.0:1.0:0.0:0.0	.	123;123;123;123	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	L	123	ENSP00000353030:S123L;ENSP00000398822:S123L;ENSP00000361491:S123L;ENSP00000361490:S123L;ENSP00000413306:S123L	ENSP00000353030:S123L	S	+	2	0	PTPRF	43792188	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.794000	0.62482	2.334000	0.79466	0.655000	0.94253	TCA		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1				12	19	0	0	0	0.013537	0	12	19		
SLC6A9	6536	broad.mit.edu	37	1	44477385	44477385	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:44477385G>A	ENST00000360584.2	-	2	288	c.97C>T	c.(97-99)Ctc>Ttc	p.L33F	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000492434.2_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	33					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGAACAGGGAGAAGCGTCACC	0.602																																						uc001cll.2		NaN																	0					0						c.(97-99)CTC>TTC		solute carrier family 6 member 9 isoform 2	Glycine(DB00145)						72.0	77.0	75.0					1																	44477385		1983	4147	6130	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44477385G>A	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.97C>T	1.37:g.44477385G>A	ENSP00000353791:p.Leu33Phe					SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Intron|SLC6A9_uc009vxd.2_Intron|SLC6A9_uc010okn.1_Intron|SLC6A9_uc001cln.2_Intron|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	p.L33F	NM_201649	NP_964012	P48067	SC6A9_HUMAN			2	289	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	33			Cytoplasmic (Potential).		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.97C>T	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	G	3.950	-0.012391	0.07727	.	.	ENSG00000196517	ENST00000360584;ENST00000466926	T;T	0.76060	-0.99;-0.31	0.426	0.426	0.16479	.	422.961000	0.00166	N	0.000000	T	0.48409	0.1498	N	0.08118	0	0.09310	N	1	P	0.40144	0.704	B	0.26310	0.068	T	0.50668	-0.8801	9	0.22706	T	0.39	.	.	.	.	.	33	P48067	SC6A9_HUMAN	F	33;14	ENSP00000353791:L33F;ENSP00000433241:L14F	ENSP00000353791:L33F	L	-	1	0	SLC6A9	44249972	0.000000	0.05858	0.004000	0.12327	0.032000	0.12392	0.488000	0.22371	0.461000	0.27071	0.195000	0.17529	CTC		0.602	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2		NM_201649		14	48	0	0	0	0.00245	0	14	48		
BEST4	266675	broad.mit.edu	37	1	45251772	45251772	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:45251772C>T	ENST00000372207.3	-	4	609	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	204						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					AGAGCGATATCGTCACGTATT	0.512											OREG0013447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cmm.2		NaN																	0				ovary(1)	1						c.(610-612)GAT>AAT		bestrophin 4							89.0	99.0	96.0					1																	45251772		2203	4300	6503	SO:0001583	missense	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45251772C>T	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.610G>A	1.37:g.45251772C>T	ENSP00000361281:p.Asp204Asn		OREG0013447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930		p.D204N	NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN			4	659	-	Acute lymphoblastic leukemia(166;0.155)		204			Extracellular (Potential).		Q5JR93	Missense_Mutation	SNP	ENST00000372207.3	37	c.610G>A	CCDS514.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341128	0.81911	.	.	ENSG00000142959	ENST00000372207	D	0.98747	-5.11	5.55	5.55	0.83447	.	0.053919	0.64402	D	0.000001	D	0.97164	0.9073	L	0.49126	1.545	0.58432	D	0.999999	P	0.36944	0.574	B	0.36134	0.218	D	0.96592	0.9438	10	0.32370	T	0.25	-17.3638	18.2398	0.89963	0.0:1.0:0.0:0.0	.	204	Q8NFU0	BEST4_HUMAN	N	204	ENSP00000361281:D204N	ENSP00000361281:D204N	D	-	1	0	BEST4	45024359	0.979000	0.34478	0.959000	0.39883	0.847000	0.48162	2.548000	0.45794	2.894000	0.99253	0.655000	0.94253	GAT		0.512	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1		NM_153274		72	89	0	0	0	0.01441	0	72	89		
PLK3	1263	broad.mit.edu	37	1	45266717	45266717	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:45266717G>A	ENST00000372201.4	+	3	567	c.328G>A	c.(328-330)Gag>Aag	p.E110K	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GATCCTAAATGAGATTGAGCT	0.587																																						uc001cmn.2		NaN																	0					0						c.(328-330)GAG>AAG		polo-like kinase 3							71.0	70.0	70.0					1																	45266717		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45266717G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.328G>A	1.37:g.45266717G>A	ENSP00000361275:p.Glu110Lys					PLK3_uc001cmo.2_RNA	p.E110K	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			3	428	+	Acute lymphoblastic leukemia(166;0.155)		110			Protein kinase.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.328G>A	CCDS515.1	.	.	.	.	.	.	.	.	.	.	g	37	6.025072	0.97211	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.64803	-0.12	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87462	0.6183	H	0.98594	4.275	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.92675	0.6153	9	0.87932	D	0	-18.3489	17.0188	0.86428	0.0:0.0:1.0:0.0	.	110	Q9H4B4	PLK3_HUMAN	K	110;85	ENSP00000361275:E110K	ENSP00000361275:E110K	E	+	1	0	PLK3	45039304	1.000000	0.71417	0.974000	0.42286	0.974000	0.67602	9.854000	0.99522	2.270000	0.75569	0.550000	0.68814	GAG		0.587	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1		NM_004073		10	15	0	0	0	0.006214	0	10	15		
NASP	4678	broad.mit.edu	37	1	46073665	46073665	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:46073665C>T	ENST00000350030.3	+	6	1169	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.S363L|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.S297L	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	361	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAGGCTGGATCAGAAGTCTCT	0.527																																						uc001coi.1		NaN																	0				ovary(1)	1						c.(1081-1083)TCA>TTA		nuclear autoantigenic sperm protein isoform 2							83.0	93.0	90.0					1																	46073665		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46073665C>T	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1082C>T	1.37:g.46073665C>T	ENSP00000255120:p.Ser361Leu					NASP_uc010olq.1_Missense_Mutation_p.S324L|NASP_uc001coh.1_Missense_Mutation_p.S363L|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Missense_Mutation_p.S297L|NASP_uc001cok.1_Missense_Mutation_p.S244L	p.S361L	NM_002482	NP_002473	P49321	NASP_HUMAN			6	1184	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		361			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.1082C>T	CCDS524.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106530	0.37145	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030	D;D;D	0.94537	-3.45;-3.45;-3.45	5.67	5.67	0.87782	.	0.655088	0.15298	N	0.269777	D	0.90683	0.7077	L	0.32530	0.975	0.25742	N	0.985141	P;P;P;P;P	0.43094	0.775;0.799;0.799;0.518;0.775	B;B;B;B;B	0.39660	0.23;0.252;0.252;0.115;0.306	D	0.84706	0.0731	9	.	.	.	-1.3005	14.0769	0.64895	0.1502:0.8498:0.0:0.0	.	297;361;261;361;363	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	L	297;363;261;361	ENSP00000438871:S297L;ENSP00000384529:S363L;ENSP00000255120:S361L	.	S	+	2	0	NASP	45846252	0.040000	0.19996	0.998000	0.56505	0.890000	0.51754	0.647000	0.24812	2.834000	0.97654	0.557000	0.71058	TCA		0.527	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2		NM_002482		7	80	0	0	0	0.008291	0	7	80		
IPP	3652	broad.mit.edu	37	1	46211827	46211827	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:46211827C>A	ENST00000396478.3	-	2	359	c.257G>T	c.(256-258)gGa>gTa	p.G86V		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	86	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CTGAAAGATTCCTGCTTCAAT	0.398																																						uc001cou.2		NaN																	0				ovary(1)	1						c.(256-258)GGA>GTA		intracisternal A particle-promoted polypeptide							82.0	81.0	81.0					1																	46211827		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46211827C>A	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.257G>T	1.37:g.46211827C>A	ENSP00000379739:p.Gly86Val					IPP_uc001cos.3_Missense_Mutation_p.G86V	p.G86V	NM_005897	NP_005888	Q9Y573	IPP_HUMAN			2	524	-	Acute lymphoblastic leukemia(166;0.155)		86			BTB.		A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.257G>T	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990968	0.35131	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.66995	-0.24;-0.24	5.57	3.68	0.42216	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.519428	0.22253	N	0.062535	T	0.40979	0.1139	N	0.04669	-0.19	0.58432	D	0.999994	B;B	0.29805	0.004;0.257	B;B	0.30782	0.016;0.12	T	0.17198	-1.0377	10	0.30854	T	0.27	.	7.8161	0.29260	0.0:0.6141:0.2536:0.1323	.	86;86	Q9Y573;A2A6V3	IPP_HUMAN;.	V	86	ENSP00000353024:G86V;ENSP00000379739:G86V	ENSP00000353024:G86V	G	-	2	0	IPP	45984414	0.939000	0.31865	1.000000	0.80357	0.984000	0.73092	0.926000	0.28804	0.689000	0.31550	-0.150000	0.13652	GGA		0.398	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3		NM_005897		19	55	1	0	5.03518e-11	0.007413	5.25558e-11	19	55		
MKNK1	8569	broad.mit.edu	37	1	47024307	47024307	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:47024307C>T	ENST00000371946.4	-	14	1501	c.1338G>A	c.(1336-1338)cgG>cgA	p.R446R	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371945.4_Silent_p.R405R|MKNK1_ENST00000371944.4_Silent_p.R310R	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	446			R -> Q (in dbSNP:rs34881418). {ECO:0000269|PubMed:17344846}.		extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GGGCCCGTCTCCGGGCCAGGC	0.627																																						uc001cqb.2		NaN																	0				lung(2)	2						c.(1336-1338)CGG>CGA		MAP kinase-interacting serine/threonine kinase 1							37.0	42.0	41.0					1																	47024307		2203	4300	6503	SO:0001819	synonymous_variant	8569				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:47024307C>T	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.1338G>A	1.37:g.47024307C>T						MKNK1_uc010omd.1_Silent_p.R310R|MKNK1_uc001cqc.2_Silent_p.R405R|MKNK1_uc009vyi.2_3'UTR|MKNK1_uc010ome.1_3'UTR	p.R446R	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN			14	1582	-	Acute lymphoblastic leukemia(166;0.155)		446					D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Silent	SNP	ENST00000371946.4	37	c.1338G>A	CCDS538.1																																																																																				0.627	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2		NM_003684		23	27	0	0	0	0.00333	0	23	27		
CYP4Z1	199974	broad.mit.edu	37	1	47564903	47564903	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:47564903G>A	ENST00000334194.3	+	8	1017	c.1014G>A	c.(1012-1014)caG>caA	p.Q338Q	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	338						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AGCATCAGCAGAGATGCCGAG	0.453																																						uc001cqu.1		NaN																	0				skin(1)	1						c.(1012-1014)CAG>CAA		cytochrome P450 4Z1							92.0	82.0	85.0					1																	47564903		2203	4300	6503	SO:0001819	synonymous_variant	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47564903G>A	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1014G>A	1.37:g.47564903G>A							p.Q338Q	NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN			8	1017	+			338			Lumenal (Potential).		Q5VVE4	Silent	SNP	ENST00000334194.3	37	c.1014G>A	CCDS545.1																																																																																				0.453	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1		NM_178134		24	60	0	0	0	0.00333	0	24	60		
NRD1	4898	broad.mit.edu	37	1	52344197	52344197	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:52344197C>T	ENST00000354831.7	-	1	280	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	NRD1_ENST00000352171.7_Missense_Mutation_p.E31K|NRD1_ENST00000544028.1_Intron|NRD1_ENST00000539524.1_5'Flank	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	31					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CCCCGCGTTTCGATTCCCCAG	0.612																																						uc001ctc.3		NaN																	0					0						c.(91-93)GAA>AAA		nardilysin isoform a							37.0	35.0	36.0					1																	52344197		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52344197C>T	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.91G>A	1.37:g.52344197C>T	ENSP00000346890:p.Glu31Lys					NRD1_uc001ctd.3_Missense_Mutation_p.E31K|NRD1_uc001cte.2_5'Flank|NRD1_uc001ctf.2_Missense_Mutation_p.E31K|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_5'Flank	p.E31K	NM_002525	NP_002516	O43847	NRDC_HUMAN			1	413	-			31					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.91G>A	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444305	0.25987	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000546169	T;T	0.35421	1.41;1.31	5.07	-0.176	0.13311	.	1.264190	0.05492	N	0.556833	T	0.17195	0.0413	N	0.08118	0	0.09310	N	0.999996	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21075	-1.0256	10	0.49607	T	0.09	2.1865	1.1123	0.01707	0.1583:0.4283:0.1539:0.2595	.	31;31;31	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	K	31	ENSP00000262679:E31K;ENSP00000346890:E31K	ENSP00000262679:E31K	E	-	1	0	NRD1	52116785	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	0.332000	0.19751	-0.183000	0.10585	0.650000	0.86243	GAA		0.612	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1		NM_002525		6	23	0	0	0	0.001168	0	6	23		
ZFYVE9	9372	broad.mit.edu	37	1	52805846	52805846	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:52805846G>A	ENST00000371591.1	+	16	4013	c.3882G>A	c.(3880-3882)gtG>gtA	p.V1294V	ZFYVE9_ENST00000357206.2_Silent_p.V1235V|ZFYVE9_ENST00000287727.3_Silent_p.V1294V	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1294					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAACAAATGTGAAGATATTCC	0.383																																						uc001cto.2		NaN																	0				ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(3880-3882)GTG>GTA		zinc finger, FYVE domain containing 9 isoform 3							92.0	89.0	90.0					1																	52805846		2203	4300	6503	SO:0001819	synonymous_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52805846G>A	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3882G>A	1.37:g.52805846G>A						ZFYVE9_uc001ctp.2_Silent_p.V1235V	p.V1294V	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			17	4054	+			1294					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.3882G>A	CCDS563.1																																																																																				0.383	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1		NM_007324		19	71	0	0	0	0.007413	0	19	71		
LRRC42	115353	broad.mit.edu	37	1	54428058	54428058	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:54428058C>T	ENST00000371370.3	+	7	1424	c.903C>T	c.(901-903)tgC>tgT	p.C301C	LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Silent_p.C301C	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	301										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ATAGTAACTGCAAGACAGAGG	0.453																																						uc001cwj.1		NaN																	0					0						c.(901-903)TGC>TGT		leucine rich repeat containing 42							97.0	96.0	96.0					1																	54428058		2203	4300	6503	SO:0001819	synonymous_variant	115353							g.chr1:54428058C>T	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.903C>T	1.37:g.54428058C>T						LRRC42_uc001cwl.1_Silent_p.C301C|LRRC42_uc001cwk.1_Silent_p.C301C|LRRC42_uc009vzm.1_Silent_p.C301C	p.C301C	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN			6	1103	+			301					D3DQ46|Q8N2Q8	Silent	SNP	ENST00000371370.3	37	c.903C>T	CCDS585.1																																																																																				0.453	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1		NM_052940		6	24	0	0	0	0.001168	0	6	24		
DHCR24	1718	broad.mit.edu	37	1	55352603	55352603	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:55352603G>A	ENST00000371269.3	-	1	288	c.190C>T	c.(190-192)Ccg>Tcg	p.P64S	DHCR24_ENST00000535035.1_5'Flank|RP11-67L3.4_ENST00000433690.1_RNA|RP11-67L3.5_ENST00000415336.1_RNA|RP11-67L3.4_ENST00000436033.1_RNA|RP11-67L3.4_ENST00000443284.1_RNA|RP11-67L3.4_ENST00000455380.1_RNA	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	64	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TGCAGGCGCGGAGCGCTGCTG	0.682																																					Pancreas(39;516 1021 24601 30715 32780)	uc001cyc.1		NaN																	0				pancreas(1)	1						c.(190-192)CCG>TCG		24-dehydrocholesterol reductase precursor							40.0	45.0	43.0					1																	55352603		2203	4300	6503	SO:0001583	missense	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55352603G>A	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.190C>T	1.37:g.55352603G>A	ENSP00000360316:p.Pro64Ser					DHCR24_uc010ook.1_5'Flank	p.P64S	NM_014762	NP_055577	Q15392	DHC24_HUMAN			1	319	-			64			FAD-binding PCMH-type.		B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.190C>T	CCDS600.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661722	0.88154	.	.	ENSG00000116133	ENST00000539536;ENST00000371269	D	0.92446	-3.04	5.3	5.3	0.74995	FAD-binding, type 2 (2);	0.000000	0.85682	D	0.000000	D	0.96034	0.8708	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.93890	0.7179	10	0.10377	T	0.69	-10.0332	19.1354	0.93426	0.0:0.0:1.0:0.0	.	64	Q15392	DHC24_HUMAN	S	64	ENSP00000360316:P64S	ENSP00000360316:P64S	P	-	1	0	DHCR24	55125191	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	9.035000	0.93752	2.757000	0.94681	0.561000	0.74099	CCG		0.682	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1		NM_014762		5	11	0	0	0	0.000602	0	5	11		
DHCR24	1718	broad.mit.edu	37	1	55352654	55352654	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:55352654C>T	ENST00000371269.3	-	1	237	c.139G>A	c.(139-141)Gat>Aat	p.D47N	DHCR24_ENST00000535035.1_5'Flank|RP11-67L3.4_ENST00000433690.1_RNA|RP11-67L3.5_ENST00000415336.1_RNA|RP11-67L3.4_ENST00000436033.1_RNA|RP11-67L3.4_ENST00000443284.1_RNA|RP11-67L3.4_ENST00000455380.1_RNA	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	47					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TAGTAGATATCGAAGATAAGC	0.632																																					Pancreas(39;516 1021 24601 30715 32780)	uc001cyc.1		NaN																	0				pancreas(1)	1						c.(139-141)GAT>AAT		24-dehydrocholesterol reductase precursor							50.0	52.0	51.0					1																	55352654		2203	4300	6503	SO:0001583	missense	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55352654C>T	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.139G>A	1.37:g.55352654C>T	ENSP00000360316:p.Asp47Asn					DHCR24_uc010ook.1_5'Flank	p.D47N	NM_014762	NP_055577	Q15392	DHC24_HUMAN			1	268	-			47			Helical; (Potential).		B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.139G>A	CCDS600.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009688	0.35415	.	.	ENSG00000116133	ENST00000539536;ENST00000371269	D	0.85013	-1.93	5.3	4.37	0.52481	FAD-binding, type 2 (1);	0.045401	0.85682	D	0.000000	T	0.74114	0.3674	L	0.43152	1.355	0.80722	D	1	P	0.43542	0.81	B	0.27170	0.077	T	0.73382	-0.4000	10	0.12430	T	0.62	-5.39	15.2735	0.73723	0.1412:0.8588:0.0:0.0	.	47	Q15392	DHC24_HUMAN	N	47	ENSP00000360316:D47N	ENSP00000360316:D47N	D	-	1	0	DHCR24	55125242	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	7.176000	0.77643	1.426000	0.47256	0.561000	0.74099	GAT		0.632	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1		NM_014762		6	14	0	0	0	0.004482	0	6	14		
C8A	731	broad.mit.edu	37	1	57320598	57320598	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:57320598C>T	ENST00000361249.3	+	1	120	c.24C>T	c.(22-24)atC>atT	p.I8I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	8					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.I8M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTTTCTTCATCTTGTCTTTGA	0.433																																						uc001cyo.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(22-24)ATC>ATT		complement component 8, alpha polypeptide							226.0	172.0	191.0					1																	57320598		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57320598C>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.24C>T	1.37:g.57320598C>T							p.I8I	NM_000562	NP_000553	P07357	CO8A_HUMAN			1	156	+			8					A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.24C>T	CCDS606.1																																																																																				0.433	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1		NM_000562		14	13	0	0	0	0.00245	0	14	13		
DOCK7	85440	broad.mit.edu	37	1	63113920	63113920	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:63113920C>G	ENST00000340370.5	-	6	606	c.589G>C	c.(589-591)Gac>Cac	p.D197H	DOCK7_ENST00000404627.2_Missense_Mutation_p.D197H|DOCK7_ENST00000251157.5_Missense_Mutation_p.D197H	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	197					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTTTCAAGTCAAAGATACTA	0.363																																						uc001daq.2		NaN																	0				ovary(2)	2						c.(589-591)GAC>CAC		dedicator of cytokinesis 7							79.0	81.0	80.0					1																	63113920		2203	4298	6501	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63113920C>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.589G>C	1.37:g.63113920C>G	ENSP00000340742:p.Asp197His					DOCK7_uc001dan.2_Missense_Mutation_p.D89H|DOCK7_uc001dao.2_Missense_Mutation_p.D89H|DOCK7_uc001dap.2_Missense_Mutation_p.D197H|DOCK7_uc009wah.1_Missense_Mutation_p.D197H	p.D197H	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			6	623	-			197					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.589G>C	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500954	0.85176	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.19394	2.15;2.15;2.15	4.88	4.88	0.63580	.	0.094009	0.64402	D	0.000001	T	0.47303	0.1438	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.992;0.997;0.99;0.986;0.967	T	0.57063	-0.7875	10	0.87932	D	0	.	18.2377	0.89956	0.0:1.0:0.0:0.0	.	197;197;197;197;197	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	H	197	ENSP00000251157:D197H;ENSP00000340742:D197H;ENSP00000384446:D197H	ENSP00000251157:D197H	D	-	1	0	DOCK7	62886508	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.609000	0.82925	2.517000	0.84864	0.563000	0.77884	GAC		0.363	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1		NM_033407		24	82	0	0	0	0.014323	0	24	82		
ITGB3BP	23421	broad.mit.edu	37	1	63920112	63920112	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:63920112G>A	ENST00000271002.10	-	6	447	c.366C>T	c.(364-366)ctC>ctT	p.L122L	ITGB3BP_ENST00000371092.3_Silent_p.L161L|ITGB3BP_ENST00000461681.1_5'UTR|ITGB3BP_ENST00000283568.8_Silent_p.L122L	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	122					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						AGATTCCAATGAGATTTTCAA	0.343																																						uc001dba.1		NaN																	0					0						c.(364-366)CTC>CTT		integrin beta 3 binding protein							100.0	98.0	99.0					1																	63920112		2203	4298	6501	SO:0001819	synonymous_variant	23421				apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity	g.chr1:63920112G>A	U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.366C>T	1.37:g.63920112G>A						ITGB3BP_uc001dbb.1_Silent_p.L161L|ITGB3BP_uc001dbc.1_RNA|ITGB3BP_uc001dbd.1_RNA|ITGB3BP_uc009wak.1_Silent_p.L144L|ITGB3BP_uc001dbe.1_Silent_p.L35L	p.L122L	NM_014288	NP_055103	Q13352	CENPR_HUMAN			6	397	-			122					B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Silent	SNP	ENST00000271002.10	37	c.366C>T	CCDS30736.1																																																																																				0.343	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2		NM_014288		15	53	0	0	0	0.00245	0	15	53		
ROR1	4919	broad.mit.edu	37	1	64643416	64643416	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:64643416C>T	ENST00000371079.1	+	9	2067	c.1692C>T	c.(1690-1692)ctC>ctT	p.L564L	ROR1_ENST00000545203.1_Silent_p.L15L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	564	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATGAGTTCCTCATCATGAGAT	0.483																																						uc001dbj.2		NaN																	0				ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(1690-1692)CTC>CTT		receptor tyrosine kinase-like orphan receptor 1							76.0	77.0	76.0					1																	64643416		2203	4300	6503	SO:0001819	synonymous_variant	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643416C>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1692C>T	1.37:g.64643416C>T						uc001dbm.2_5'Flank	p.L564L	NM_005012	NP_005003	Q01973	ROR1_HUMAN			9	2091	+			564			Cytoplasmic (Potential).|Protein kinase.		Q5VVX6|Q66K77|Q92776	Silent	SNP	ENST00000371079.1	37	c.1692C>T	CCDS626.1																																																																																				0.483	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1		NM_005012		39	42	0	0	0	0.00623	0	39	42		
WDR78	79819	broad.mit.edu	37	1	67299731	67299731	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:67299731T>A	ENST00000371026.3	-	12	1889	c.1834A>T	c.(1834-1836)Ata>Tta	p.I612L	WDR78_ENST00000431318.1_Missense_Mutation_p.I358L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	612					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCTGCTGATATAGAAACTAGT	0.363																																						uc001dcx.2		NaN																	0				ovary(2)	2						c.(1834-1836)ATA>TTA		WD repeat domain 78 isoform 1							107.0	104.0	105.0					1																	67299731		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67299731T>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1834A>T	1.37:g.67299731T>A	ENSP00000360065:p.Ile612Leu					WDR78_uc009waw.2_Missense_Mutation_p.I358L|WDR78_uc009wax.2_RNA	p.I612L	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			12	1890	-			612			WD 2.		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1834A>T	CCDS635.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.218600	0.79464	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.65178	1.61;-0.14;-0.14	5.68	3.04	0.35103	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.164447	0.56097	D	0.000039	T	0.47600	0.1454	L	0.52364	1.645	0.29351	N	0.865371	P;P	0.45768	0.866;0.621	P;B	0.50570	0.644;0.279	T	0.37820	-0.9689	10	0.45353	T	0.12	-25.8804	9.1581	0.37005	0.0:0.2299:0.0:0.7701	.	358;612	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	L	612;358;378	ENSP00000360065:I612L;ENSP00000393182:I358L;ENSP00000433682:I378L	ENSP00000360065:I612L	I	-	1	0	WDR78	67072319	0.978000	0.34361	0.996000	0.52242	0.949000	0.60115	1.127000	0.31357	0.997000	0.38969	0.533000	0.62120	ATA		0.363	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1		NM_024763		29	67	0	0	0	0.00632	0	29	67		
C1orf141	400757	broad.mit.edu	37	1	67559011	67559011	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:67559011C>G	ENST00000371007.2	-	8	989	c.880G>C	c.(880-882)Gat>Cat	p.D294H	C1orf141_ENST00000544837.1_Missense_Mutation_p.D294H|C1orf141_ENST00000371006.1_Missense_Mutation_p.D294H	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	294										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						AGTTTATCATCTACAGTTGTG	0.333																																						uc001ddl.1		NaN																	0				ovary(1)	1						c.(880-882)GAT>CAT		hypothetical protein LOC400757							86.0	88.0	88.0					1																	67559011		2203	4299	6502	SO:0001583	missense	400757							g.chr1:67559011C>G	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.880G>C	1.37:g.67559011C>G	ENSP00000360046:p.Asp294His					C1orf141_uc001ddm.1_Missense_Mutation_p.D294H|C1orf141_uc001ddn.1_RNA	p.D294H	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN			7	991	-			294					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.880G>C	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	C	8.700	0.909523	0.17833	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.32515	1.45;1.45;1.45	4.85	2.74	0.32292	.	1.915850	0.02540	N	0.094562	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	B	0.27791	0.189	B	0.26864	0.074	T	0.26538	-1.0100	10	0.54805	T	0.06	4.6646	3.4948	0.07650	0.2364:0.5924:0.0:0.1712	.	294	Q5JVX7	CA141_HUMAN	H	294	ENSP00000360046:D294H;ENSP00000360045:D294H;ENSP00000444018:D294H	ENSP00000360045:D294H	D	-	1	0	C1orf141	67331599	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.176000	0.09811	0.495000	0.27882	-0.122000	0.15005	GAT		0.333	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2		NM_001013674		34	118	0	0	0	0.012213	0	34	118		
PTGER3	5733	broad.mit.edu	37	1	71512801	71512801	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:71512801C>T	ENST00000306666.5	-	1	670	c.460G>A	c.(460-462)Gag>Aag	p.E154K	PTGER3_ENST00000356595.4_Missense_Mutation_p.E154K|PTGER3_ENST00000460330.1_Missense_Mutation_p.E154K|PTGER3_ENST00000354608.5_Missense_Mutation_p.E154K|PTGER3_ENST00000370932.2_Missense_Mutation_p.E154K|PTGER3_ENST00000370924.4_Missense_Mutation_p.E154K|PTGER3_ENST00000370931.3_Missense_Mutation_p.E154K|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000414819.1_Missense_Mutation_p.E154K|PTGER3_ENST00000351052.5_Missense_Mutation_p.E154K	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	154					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	AGCGCCCGCTCGACGGCCATG	0.677																																						uc001dfg.1		NaN																	0				pancreas(1)|lung(1)|skin(1)	3						c.(460-462)GAG>AAG		prostaglandin E receptor 3, subtype EP3 isoform	Bimatoprost(DB00905)						10.0	12.0	11.0					1																	71512801		2189	4266	6455	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71512801C>T	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.460G>A	1.37:g.71512801C>T	ENSP00000302313:p.Glu154Lys					PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.E154K|PTGER3_uc001dfl.1_Missense_Mutation_p.E154K|PTGER3_uc009wbm.1_Missense_Mutation_p.E154K|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.E154K|PTGER3_uc009wbn.1_Missense_Mutation_p.E154K|PTGER3_uc009wbo.2_Missense_Mutation_p.E154K|PTGER3_uc001dfo.2_Missense_Mutation_p.E154K|PTGER3_uc001dfp.1_Missense_Mutation_p.E154K|PTGER3_uc001dfq.2_Missense_Mutation_p.E154K|uc001dfr.2_RNA	p.E154K	NM_198714	NP_942007	P43115	PE2R3_HUMAN			1	691	-			154			Cytoplasmic (Potential).		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.460G>A	CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	36	5.636495	0.96693	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	M	0.90252	3.1	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.89979	0.4099	10	0.87932	D	0	-32.1296	18.2589	0.90028	0.0:1.0:0.0:0.0	.	154;154;154;154;154;154;154;154	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	K	154	ENSP00000359969:E154K;ENSP00000359970:E154K;ENSP00000280208:E154K;ENSP00000418073:E154K;ENSP00000346624:E154K;ENSP00000349003:E154K;ENSP00000401423:E154K;ENSP00000302313:E154K;ENSP00000359962:E154K	ENSP00000302313:E154K	E	-	1	0	PTGER3	71285389	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.455000	0.80726	2.537000	0.85549	0.462000	0.41574	GAG		0.677	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1		NM_000957		9	4	0	0	0	0.006214	0	9	4		
ELTD1	64123	broad.mit.edu	37	1	79385973	79385973	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:79385973G>A	ENST00000370742.3	-	10	1419	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	452					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAATTTCACTGAAGAACCAGA	0.323																																						uc001diq.3		NaN																	0				ovary(1)|skin(1)	2						c.(1354-1356)TTC>TTT		EGF, latrophilin and seven transmembrane domain							108.0	102.0	104.0					1																	79385973		1819	4081	5900	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79385973G>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1356C>T	1.37:g.79385973G>A							p.F452F	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	10	1512	-			452			Helical; Name=1; (Potential).		B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.1356C>T	CCDS41352.1																																																																																				0.323	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1		NM_022159		25	74	0	0	0	0.003954	0	25	74		
LPHN2	23266	broad.mit.edu	37	1	82417698	82417698	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:82417698G>C	ENST00000370728.1	+	11	2299	c.1654G>C	c.(1654-1656)Ggg>Cgg	p.G552R	LPHN2_ENST00000394879.1_Missense_Mutation_p.G552R|LPHN2_ENST00000370730.1_Missense_Mutation_p.G552R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.G552R|LPHN2_ENST00000335786.5_Missense_Mutation_p.G552R|LPHN2_ENST00000319517.6_Missense_Mutation_p.G552R|LPHN2_ENST00000370717.2_Missense_Mutation_p.G552R|LPHN2_ENST00000370713.1_Missense_Mutation_p.G552R|LPHN2_ENST00000370715.1_Missense_Mutation_p.G552R|LPHN2_ENST00000359929.3_Missense_Mutation_p.G552R|LPHN2_ENST00000370723.1_Missense_Mutation_p.G552R|LPHN2_ENST00000370721.1_Missense_Mutation_p.G490R|LPHN2_ENST00000370727.1_Missense_Mutation_p.G552R|LPHN2_ENST00000370725.1_Missense_Mutation_p.G552R			O95490	LPHN2_HUMAN	latrophilin 2	552					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACATACCAAAGGGCCAGTGTT	0.398																																						uc001dit.3		NaN																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1654-1656)GGG>CGG		latrophilin 2 precursor							125.0	106.0	112.0					1																	82417698		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82417698G>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1654G>C	1.37:g.82417698G>C	ENSP00000359763:p.Gly552Arg					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.G552R|LPHN2_uc001div.2_Missense_Mutation_p.G552R|LPHN2_uc009wcd.2_Missense_Mutation_p.G552R|LPHN2_uc001diw.2_Missense_Mutation_p.G123R	p.G552R	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	9	1835	+			552			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1654G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.78|15.78	2.933853|2.933853	0.52866|0.52866	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.08370|0.10382	3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1|2.88	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.166462|.	0.52532|.	D|.	0.000080|.	T|T	0.18173|0.18173	0.0436|0.0436	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	P;D;D|.	0.63880|.	0.948;0.993;0.987|.	P;P;P|.	0.62089|.	0.859;0.898;0.894|.	T|T	0.00083|0.00083	-1.2102|-1.2102	10|7	0.39692|0.49607	T|T	0.17|0.09	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	552;552;552|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	R|N	490;552;552;552;552;552;552;552;552;552;552;552;552;552|419	ENSP00000359756:G490R;ENSP00000359763:G552R;ENSP00000359765:G552R;ENSP00000359762:G552R;ENSP00000359760:G552R;ENSP00000359758:G552R;ENSP00000353006:G552R;ENSP00000359750:G552R;ENSP00000359748:G552R;ENSP00000322270:G552R;ENSP00000359752:G552R;ENSP00000378344:G552R;ENSP00000271029:G552R;ENSP00000337306:G552R|ENSP00000397740:K419N	ENSP00000271029:G552R|ENSP00000397740:K419N	G|K	+|+	1|3	0|2	LPHN2|LPHN2	82190286|82190286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GGG|AAG		0.398	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1		NM_012302		30	40	0	0	0	0.00632	0	30	40		
CLCA4	22802	broad.mit.edu	37	1	87029391	87029391	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:87029391G>C	ENST00000370563.3	+	4	538	c.496G>C	c.(496-498)Gat>Cat	p.D166H	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	166	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGGAGTGTTTGATGAGTACAA	0.408																																						uc009wcs.2		NaN																	0				ovary(2)	2						c.(496-498)GAT>CAT		chloride channel accessory 4							100.0	99.0	99.0					1																	87029391		1954	4189	6143	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87029391G>C	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.496G>C	1.37:g.87029391G>C	ENSP00000359594:p.Asp166His					CLCA4_uc009wct.2_Intron|CLCA4_uc009wcu.2_Intron	p.D166H	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	4	540	+		Lung NSC(277;0.238)	166					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.496G>C	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420539	0.83559	.	.	ENSG00000016602	ENST00000370563	T	0.16597	2.33	5.77	5.77	0.91146	Chloride channel calcium-activated (1);	0.129807	0.49305	D	0.000147	T	0.45657	0.1353	M	0.90814	3.15	0.80722	D	1	D	0.62365	0.991	D	0.70935	0.971	T	0.54689	-0.8256	10	0.87932	D	0	-26.2654	19.5865	0.95492	0.0:0.0:1.0:0.0	.	166	Q14CN2	CLCA4_HUMAN	H	166	ENSP00000359594:D166H	ENSP00000359594:D166H	D	+	1	0	CLCA4	86801979	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.300000	0.78841	2.723000	0.93209	0.655000	0.94253	GAT		0.408	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1		NM_012128		17	52	0	0	0	0.006122	0	17	52		
GBP3	2635	broad.mit.edu	37	1	89477538	89477538	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:89477538G>A	ENST00000370481.4	-	7	1261	c.1041C>T	c.(1039-1041)acC>acT	p.T347T		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	398					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.T347T(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GCTCCTGGAGGGTTTCTGCGG	0.537																																						uc001dmt.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|pancreas(1)	2						c.(1039-1041)ACC>ACT		guanylate binding protein 3							74.0	57.0	63.0					1																	89477538		2189	3949	6138	SO:0001819	synonymous_variant	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89477538G>A	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1041C>T	1.37:g.89477538G>A						GBP3_uc010oss.1_Silent_p.T268T|GBP3_uc001dmu.2_Silent_p.T213T|GBP3_uc001dmv.2_Intron	p.T347T	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	7	1246	-		Lung NSC(277;0.123)	347					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	ENST00000370481.4	37	c.1041C>T	CCDS717.2																																																																																				0.537	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3		NM_018284		5	54	0	0	0	0.000602	0	5	54		
GFI1	2672	broad.mit.edu	37	1	92941706	92941706	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:92941706G>A	ENST00000370332.1	-	7	1467	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	GFI1_ENST00000294702.5_Silent_p.L383L|GFI1_ENST00000427103.1_Silent_p.L383L	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	383					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TGTGGGTGATGAGGTTGGAGC	0.597																																						uc001dou.3		NaN																	0				large_intestine(1)	1						c.(1147-1149)CTC>CTT		growth factor independent 1							75.0	65.0	68.0					1																	92941706		2203	4300	6503	SO:0001819	synonymous_variant	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92941706G>A	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.1149C>T	1.37:g.92941706G>A						GFI1_uc001dov.3_Silent_p.L383L|GFI1_uc001dow.3_Silent_p.L383L	p.L383L	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	7	1313	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	383			C2H2-type 5.		Q8N564	Silent	SNP	ENST00000370332.1	37	c.1149C>T	CCDS30773.1																																																																																				0.597	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1		NM_005263		6	10	0	0	0	0.00308	0	6	10		
EVI5	7813	broad.mit.edu	37	1	93170239	93170239	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:93170239G>A	ENST00000370331.1	-	3	353	c.344C>T	c.(343-345)tCt>tTt	p.S115F	EVI5_ENST00000543509.1_Missense_Mutation_p.S115F|EVI5_ENST00000540033.1_Missense_Mutation_p.S115F	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	115	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CACAAGAGAAGAGCCACTGTT	0.363																																						uc001dox.2		NaN																	0				ovary(1)|breast(1)	2						c.(343-345)TCT>TTT		ecotropic viral integration site 5							137.0	138.0	138.0					1																	93170239		2203	4300	6503	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93170239G>A	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.344C>T	1.37:g.93170239G>A	ENSP00000359356:p.Ser115Phe					EVI5_uc010otf.1_Missense_Mutation_p.S115F	p.S115F	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	3	354	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	115			Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.344C>T	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863761	0.91511	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.05786	3.39;3.39;3.39	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.01476	-1.1345	10	0.51188	T	0.08	-5.4135	19.525	0.95201	0.0:0.0:1.0:0.0	.	115;115	F5H4R0;O60447	.;EVI5_HUMAN	F	115	ENSP00000359356:S115F;ENSP00000440826:S115F;ENSP00000445019:S115F	ENSP00000359356:S115F	S	-	2	0	EVI5	92942827	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.630000	0.89119	0.650000	0.86243	TCT		0.363	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1		NM_005665		33	96	0	0	0	0.010818	0	33	96		
BCAR3	8412	broad.mit.edu	37	1	94033313	94033313	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:94033313G>A	ENST00000370244.1	-	12	2358	c.2070C>T	c.(2068-2070)ctC>ctT	p.L690L	BCAR3_ENST00000370243.1_Silent_p.L690L|BCAR3_ENST00000260502.6_Silent_p.L690L|BCAR3_ENST00000370247.3_Silent_p.L599L|BCAR3_ENST00000539242.1_Silent_p.L366L	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	690	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTTCATGCAGGAGTTTGCTGA	0.547																																						uc001dpz.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(2068-2070)CTC>CTT		breast cancer antiestrogen resistance 3							100.0	97.0	98.0					1																	94033313		2203	4300	6503	SO:0001819	synonymous_variant	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94033313G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2070C>T	1.37:g.94033313G>A						BCAR3_uc001dqa.2_Silent_p.L690L|BCAR3_uc001dqb.2_Silent_p.L690L|BCAR3_uc001dpx.3_Silent_p.L366L|BCAR3_uc001dpy.2_Silent_p.L599L	p.L690L	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	10	2345	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	690			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	c.2070C>T	CCDS745.1																																																																																				0.547	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1				26	62	0	0	0	0.00333	0	26	62		
BCAR3	8412	broad.mit.edu	37	1	94048275	94048275	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:94048275G>A	ENST00000370244.1	-	9	1557	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	BCAR3_ENST00000370243.1_Silent_p.L423L|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Silent_p.L423L|BCAR3_ENST00000370247.3_Silent_p.L332L|BCAR3_ENST00000539242.1_Silent_p.L99L	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	423					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CCTCTGAGTTGAGCCAGGCAG	0.607																																						uc001dpz.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1267-1269)CTC>CTT		breast cancer antiestrogen resistance 3							63.0	57.0	59.0					1																	94048275		2203	4300	6503	SO:0001819	synonymous_variant	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94048275G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1269C>T	1.37:g.94048275G>A						BCAR3_uc001dqa.2_Silent_p.L423L|BCAR3_uc001dqb.2_Silent_p.L423L|BCAR3_uc001dpx.3_Silent_p.L99L|BCAR3_uc001dpy.2_Silent_p.L332L|BCAR3_uc009wdm.1_Silent_p.L99L	p.L423L	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	7	1544	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	423					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	c.1269C>T	CCDS745.1																																																																																				0.607	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1				20	47	0	0	0	0.008871	0	20	47		
GCLM	2730	broad.mit.edu	37	1	94370097	94370097	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:94370097G>A	ENST00000370238.3	-	2	420	c.174C>T	c.(172-174)atC>atT	p.I58I	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	58					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	AATCTGGGTTGATTTGGGAAC	0.338																																						uc001dqg.1		NaN																	0				ovary(1)	1						c.(172-174)ATC>ATT		glutamate-cysteine ligase regulatory protein	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						133.0	123.0	126.0					1																	94370097		2203	4300	6503	SO:0001819	synonymous_variant	2730				glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding	g.chr1:94370097G>A	L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"""gamma-glutamylcysteine synthetase"""	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.174C>T	1.37:g.94370097G>A							p.I58I	NM_002061	NP_002052	P48507	GSH0_HUMAN		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	2	467	-		all_lung(203;0.000815)|Lung NSC(277;0.00363)	58					A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Silent	SNP	ENST00000370238.3	37	c.174C>T	CCDS746.1																																																																																				0.338	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1		NM_002061		16	79	0	0	0	0.007413	0	16	79		
SNX7	51375	broad.mit.edu	37	1	99157196	99157196	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:99157196G>A	ENST00000306121.3	+	4	589	c.580G>A	c.(580-582)Gat>Aat	p.D194N	SNX7_ENST00000370189.5_Missense_Mutation_p.D130N|SNX7_ENST00000529992.1_Intron	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	130					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CCGAATTGCTGATCATCCAAC	0.338																																						uc010ouc.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(580-582)GAT>AAT		sorting nexin 7 isoform a							75.0	76.0	76.0					1																	99157196		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99157196G>A	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.580G>A	1.37:g.99157196G>A	ENSP00000304429:p.Asp194Asn					SNX7_uc001dsa.2_Missense_Mutation_p.D130N|SNX7_uc010oud.1_Intron	p.D194N	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	4	632	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	130			PX.		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.580G>A	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226590	0.58668	.	.	ENSG00000162627	ENST00000370189;ENST00000306121	T;T	0.37235	1.21;1.21	5.71	5.71	0.89125	.	0.273191	0.39834	N	0.001252	T	0.12817	0.0311	N	0.13299	0.325	0.47905	D	0.999548	B;B	0.20550	0.046;0.008	B;B	0.20577	0.03;0.016	T	0.11542	-1.0583	10	0.13470	T	0.59	-32.239	19.8476	0.96716	0.0:0.0:1.0:0.0	.	194;130	Q9UNH6-3;Q9UNH6-2	.;.	N	130;194	ENSP00000359208:D130N;ENSP00000304429:D194N	ENSP00000304429:D194N	D	+	1	0	SNX7	98929784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.710000	0.68392	2.710000	0.92621	0.650000	0.86243	GAT		0.338	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2				11	52	0	0	0	0.013537	0	11	52		
AGL	178	broad.mit.edu	37	1	100327239	100327239	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:100327239C>A	ENST00000294724.4	+	3	741	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	AGL_ENST00000361915.3_Missense_Mutation_p.S88Y|AGL_ENST00000361302.3_Missense_Mutation_p.S72Y|AGL_ENST00000370165.3_Missense_Mutation_p.S88Y|AGL_ENST00000361522.4_Missense_Mutation_p.S71Y|AGL_ENST00000370163.3_Missense_Mutation_p.S88Y|AGL_ENST00000370161.2_Missense_Mutation_p.S72Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	88					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTGCAACAATCTGGTTCATTT	0.313																																						uc001dsi.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(262-264)TCT>TAT		amylo-1,6-glucosidase,							97.0	104.0	102.0					1																	100327239		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100327239C>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.263C>A	1.37:g.100327239C>A	ENSP00000294724:p.Ser88Tyr					AGL_uc001dsj.1_Missense_Mutation_p.S88Y|AGL_uc001dsk.1_Missense_Mutation_p.S88Y|AGL_uc001dsl.1_Missense_Mutation_p.S88Y|AGL_uc001dsm.1_Missense_Mutation_p.S72Y|AGL_uc001dsn.1_Missense_Mutation_p.S71Y	p.S88Y	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	3	663	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	88			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.263C>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362250	0.82353	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.17	5.17	0.71159	.	0.254751	0.39687	N	0.001287	T	0.55210	0.1906	L	0.52573	1.65	0.58432	D	0.999998	P;P;B	0.37015	0.578;0.578;0.442	P;P;P	0.56216	0.794;0.794;0.465	T	0.56438	-0.7979	10	0.52906	T	0.07	.	18.6614	0.91473	0.0:1.0:0.0:0.0	.	71;72;88	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	Y	88;88;88;88;72;72;71	ENSP00000355106:S88Y;ENSP00000359184:S88Y;ENSP00000359182:S88Y;ENSP00000294724:S88Y;ENSP00000354971:S72Y;ENSP00000359180:S72Y;ENSP00000354635:S71Y	ENSP00000294724:S88Y	S	+	2	0	AGL	100099827	1.000000	0.71417	0.969000	0.41365	0.969000	0.65631	6.019000	0.70818	2.407000	0.81776	0.655000	0.94253	TCT		0.313	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1		NM_000028		23	101	1	0	5.35356e-11	0.00278	5.5852e-11	23	101		
PRMT6	55170	broad.mit.edu	37	1	107600219	107600219	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:107600219G>A	ENST00000370078.1	+	1	919	c.882G>A	c.(880-882)gtG>gtA	p.V294V	PRMT6_ENST00000361318.5_Silent_p.V235V			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	294	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GGTTCCAGGTGACCTTCCCTG	0.652																																						uc010ous.1		NaN																	0					0						c.(880-882)GTG>GTA		protein arginine methyltransferase 6							31.0	36.0	34.0					1																	107600219		1960	4167	6127	SO:0001819	synonymous_variant	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107600219G>A	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.882G>A	1.37:g.107600219G>A							p.V294V	NM_018137	NP_060607	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	953	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	294					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Silent	SNP	ENST00000370078.1	37	c.882G>A	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869689	0.33069	.	.	ENSG00000198890	ENST00000540389	.	.	.	5.51	3.56	0.40772	.	.	.	.	.	T	0.47116	0.1428	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57093	-0.7870	5	0.87932	D	0	-0.0024	3.5943	0.08000	0.0955:0.2031:0.5575:0.1439	.	.	.	.	N	188	.	ENSP00000440829:D188N	D	+	1	0	PRMT6	107401742	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.449000	0.21744	1.294000	0.44707	0.442000	0.29010	GAC		0.652	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1		NM_018137		20	10	0	0	0	0.008871	0	20	10		
FAM102B	284611	broad.mit.edu	37	1	109171130	109171130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:109171130G>A	ENST00000370035.3	+	8	1106	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	FAM102B_ENST00000405454.1_Missense_Mutation_p.E256K	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	256										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GCCATGTGATGAAATTGAGCA	0.408																																						uc010ouy.1		NaN																	0				large_intestine(1)	1						c.(766-768)GAA>AAA		hypothetical protein LOC284611							77.0	86.0	83.0					1																	109171130		2203	4300	6503	SO:0001583	missense	284611							g.chr1:109171130G>A	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.766G>A	1.37:g.109171130G>A	ENSP00000359052:p.Glu256Lys						p.E256K	NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	8	846	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	256					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	c.766G>A	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130436	0.56828	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	T;T	0.23147	1.92;1.92	5.36	5.36	0.76844	.	0.101175	0.64402	D	0.000002	T	0.21841	0.0526	M	0.73598	2.24	0.58432	D	0.999998	B	0.21381	0.055	B	0.21151	0.033	T	0.03651	-1.1016	10	0.37606	T	0.19	-24.9422	19.0785	0.93173	0.0:0.0:1.0:0.0	.	256	Q5T8I3	F102B_HUMAN	K	256	ENSP00000359052:E256K;ENSP00000386084:E256K	ENSP00000359052:E256K	E	+	1	0	FAM102B	108972653	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	3.848000	0.55903	2.498000	0.84270	0.655000	0.94253	GAA		0.408	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3		NM_001010883		30	83	0	0	0	0.010818	0	30	83		
SARS	6301	broad.mit.edu	37	1	109756738	109756738	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:109756738G>C	ENST00000234677.2	+	1	199	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	SARS_ENST00000369923.4_Missense_Mutation_p.E42Q	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	42					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GGCAGACAGCGAGTGGCGACG	0.587																																						uc001dwu.1		NaN																	0				central_nervous_system(1)	1						c.(124-126)GAG>CAG		seryl-tRNA synthetase	L-Serine(DB00133)						115.0	92.0	100.0					1																	109756738		2203	4300	6503	SO:0001583	missense	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109756738G>C	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.124G>C	1.37:g.109756738G>C	ENSP00000234677:p.Glu42Gln					SARS_uc001dwt.1_Missense_Mutation_p.E42Q|SARS_uc001dwv.1_Missense_Mutation_p.E42Q|SARS_uc001dww.1_5'UTR|SARS_uc001dwx.1_Missense_Mutation_p.E42Q|SARS_uc009wfa.1_Missense_Mutation_p.E42Q|SARS_uc001dwy.1_5'UTR	p.E42Q	NM_006513	NP_006504	P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	1	199	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	42					B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	c.124G>C	CCDS795.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035497	0.54896	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.46819	0.86;0.86	5.38	4.47	0.54385	tRNA-binding arm (1);Seryl-tRNA synthetase, class IIa, N-terminal (2);	0.111171	0.64402	D	0.000010	T	0.22044	0.0531	L	0.35487	1.065	0.48341	D	0.999637	B;B;B;B	0.13145	0.004;0.004;0.007;0.004	B;B;B;B	0.23716	0.03;0.03;0.048;0.03	T	0.06356	-1.0831	10	0.29301	T	0.29	-22.5813	13.0088	0.58720	0.0787:0.0:0.9213:0.0	.	42;42;42;42	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	Q	42	ENSP00000234677:E42Q;ENSP00000358939:E42Q	ENSP00000234677:E42Q	E	+	1	0	SARS	109558261	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.972000	0.63756	1.499000	0.48617	0.460000	0.39030	GAG		0.587	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2		NM_006513		6	21	0	0	0	0.00308	0	6	21		
GNAI3	2773	broad.mit.edu	37	1	110129467	110129467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:110129467G>C	ENST00000369851.4	+	7	947	c.837G>C	c.(835-837)aaG>aaC	p.K279N		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	279					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AAAAAATAAAGAGGAGTCCGT	0.348																																						uc001dxz.2		NaN																	0				ovary(1)	1						c.(835-837)AAG>AAC		guanine nucleotide binding protein (G protein),							50.0	55.0	53.0					1																	110129467		2203	4297	6500	SO:0001583	missense	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110129467G>C	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.837G>C	1.37:g.110129467G>C	ENSP00000358867:p.Lys279Asn						p.K279N	NM_006496	NP_006487	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	7	994	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	279					P17539|Q5TZX1	Missense_Mutation	SNP	ENST00000369851.4	37	c.837G>C	CCDS802.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263613	0.39995	.	.	ENSG00000065135	ENST00000369851	D	0.90444	-2.67	5.31	1.29	0.21616	.	0.337248	0.35936	N	0.002899	T	0.81494	0.4834	M	0.75615	2.305	0.44880	D	0.997894	B	0.02656	0.0	B	0.13407	0.009	T	0.76672	-0.2873	10	0.52906	T	0.07	.	6.3955	0.21611	0.2831:0.1234:0.5935:0.0	.	279	P08754	GNAI3_HUMAN	N	279	ENSP00000358867:K279N	ENSP00000358867:K279N	K	+	3	2	GNAI3	109930990	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.367000	0.44213	0.329000	0.23460	0.655000	0.94253	AAG		0.348	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1		NM_006496		28	69	0	0	0	0.004656	0	28	69		
GSTM2	2946	broad.mit.edu	37	1	110213924	110213924	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:110213924G>A	ENST00000241337.4	+	6	426	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	GSTM2_ENST00000369827.3_Missense_Mutation_p.E124K|GSTM2_ENST00000442650.1_Missense_Mutation_p.E126K|GSTM2_ENST00000369831.2_Missense_Mutation_p.E126K|GSTM2_ENST00000460717.3_Missense_Mutation_p.E126K|GSTM2_ENST00000369829.2_Missense_Mutation_p.E126K|GSTM2_ENST00000414179.2_Missense_Mutation_p.E22K	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	126	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ACTGAAACCAGAATACCTGCA	0.542																																						uc001dyi.2		NaN																	0					0						c.(376-378)GAA>AAA		glutathione S-transferase mu 2 isoform 1	Glutathione(DB00143)						85.0	83.0	84.0					1																	110213924		2203	4300	6503	SO:0001583	missense	2946				glutathione metabolic process|xenobiotic catabolic process	cytoplasm	glutathione transferase activity	g.chr1:110213924G>A	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.376G>A	1.37:g.110213924G>A	ENSP00000241337:p.Glu126Lys					GSTM2_uc001dyj.2_Missense_Mutation_p.E126K|GSTM2_uc010ovt.1_Missense_Mutation_p.E126K|GSTM2_uc009wfk.2_RNA	p.E126K	NM_000848	NP_000839	P28161	GSTM2_HUMAN		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	6	690	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	126			GST C-terminal.		B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	c.376G>A	CCDS808.1	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491266	0.12702	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000414179;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.03663	4.38;3.85;4.38;4.38;4.38;4.38;4.38	3.06	2.12	0.27331	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.588316	0.15445	N	0.261989	T	0.01092	0.0036	L	0.40543	1.245	0.09310	N	1	B;B;B	0.11235	0.001;0.003;0.004	B;B;B	0.15870	0.014;0.007;0.003	T	0.46871	-0.9160	10	0.24483	T	0.36	.	7.5498	0.27790	0.1317:0.0:0.8683:0.0	.	126;126;126	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	K	126;124;126;126;22;126;126	ENSP00000416883:E126K;ENSP00000358842:E124K;ENSP00000358846:E126K;ENSP00000435910:E126K;ENSP00000404662:E22K;ENSP00000358844:E126K;ENSP00000241337:E126K	ENSP00000241337:E126K	E	+	1	0	GSTM2	110015447	0.001000	0.12720	0.002000	0.10522	0.058000	0.15608	1.030000	0.30153	0.605000	0.29947	0.484000	0.47621	GAA		0.542	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2		NM_000848		33	33	0	0	0	0.010818	0	33	33		
KCNC4	3749	broad.mit.edu	37	1	110766114	110766114	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:110766114G>A	ENST00000369787.3	+	2	1234	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	KCNC4_ENST00000438661.2_Missense_Mutation_p.E403K|KCNC4_ENST00000413138.3_Missense_Mutation_p.E403K|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	403					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTACTACGCTGAGCGCATTGG	0.592																																						uc001dzh.2		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1207-1209)GAG>AAG		Shaw-related voltage-gated potassium channel							90.0	83.0	85.0					1																	110766114		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110766114G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1207G>A	1.37:g.110766114G>A	ENSP00000358802:p.Glu403Lys					KCNC4_uc001dzf.2_Missense_Mutation_p.E403K|KCNC4_uc009wfr.2_Missense_Mutation_p.E403K|KCNC4_uc001dzg.2_Missense_Mutation_p.E403K|KCNC4_uc001dzi.2_RNA	p.E403K	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	1264	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	403					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.1207G>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853501	0.91355	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.98717	-5.09;-5.09;-5.09	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.99336	4.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.97437	1.0019	10	0.87932	D	0	.	18.4936	0.90856	0.0:0.0:1.0:0.0	.	403;403;403	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	K	403	ENSP00000358802:E403K;ENSP00000388029:E403K;ENSP00000393655:E403K	ENSP00000358802:E403K	E	+	1	0	KCNC4	110567637	1.000000	0.71417	0.972000	0.41901	0.907000	0.53573	9.813000	0.99286	2.445000	0.82738	0.462000	0.41574	GAG		0.592	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2		NM_001039574		24	88	0	0	0	0.00278	0	24	88		
DDX20	11218	broad.mit.edu	37	1	112299299	112299299	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:112299299G>A	ENST00000369702.4	+	2	953	c.333G>A	c.(331-333)ggG>ggA	p.G111G	FAM212B_ENST00000444059.2_5'Flank|DDX20_ENST00000536167.1_Silent_p.G111G|FAM212B_ENST00000412270.1_5'Flank	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	111	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGCACCGGGAAAACCTGTG	0.428																																						uc001ebs.2		NaN																	0				lung(1)|kidney(1)	2						c.(331-333)GGG>GGA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							108.0	102.0	104.0					1																	112299299		2203	4300	6503	SO:0001819	synonymous_variant	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112299299G>A	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.333G>A	1.37:g.112299299G>A						C1orf183_uc001ebp.1_5'Flank|uc001ebr.2_5'Flank|DDX20_uc010owf.1_5'UTR	p.G111G	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	690	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	111			Helicase ATP-binding.|ATP.		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	c.333G>A	CCDS842.1																																																																																				0.428	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2		NM_007204		21	75	0	0	0	0.010504	0	21	75		
PHTF1	10745	broad.mit.edu	37	1	114242367	114242367	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:114242367G>C	ENST00000369604.1	-	17	2584	c.2101C>G	c.(2101-2103)Cta>Gta	p.L701V	PHTF1_ENST00000369598.1_Missense_Mutation_p.L656V|PHTF1_ENST00000369596.2_Missense_Mutation_p.L648V|PHTF1_ENST00000393357.2_Missense_Mutation_p.L701V|PHTF1_ENST00000369600.1_Missense_Mutation_p.L648V|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	701					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTTACTAGAGTAAGCTGT	0.284																																						uc009wgp.1		NaN																	0				ovary(1)	1						c.(2101-2103)CTA>GTA		putative homeodomain transcription factor 1							153.0	147.0	149.0					1																	114242367		2199	4294	6493	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114242367G>C	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.2101C>G	1.37:g.114242367G>C	ENSP00000358617:p.Leu701Val					PHTF1_uc001edm.2_Missense_Mutation_p.L458V	p.L701V	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2553	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	701			Basic motif.		Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.2101C>G	CCDS861.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463157	0.43736	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604	.	.	.	6.17	5.14	0.70334	.	0.132125	0.49305	D	0.000157	T	0.16599	0.0399	N	0.12182	0.205	0.80722	D	1	D	0.54397	0.966	P	0.46685	0.524	T	0.03910	-1.0993	9	0.15066	T	0.55	-11.5368	9.8308	0.40941	0.1754:0.0:0.8246:0.0	.	701	Q9UMS5	PHTF1_HUMAN	V	656;701;648;656;648;701	.	ENSP00000358609:L648V	L	-	1	2	PHTF1	114043890	0.999000	0.42202	0.991000	0.47740	0.996000	0.88848	2.878000	0.48515	1.368000	0.46115	0.655000	0.94253	CTA		0.284	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1		NM_006608		4	14	0	0	0	0.009096	0	4	14		
AP4B1	10717	broad.mit.edu	37	1	114447326	114447326	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:114447326C>T	ENST00000369569.1	-	1	294	c.14G>A	c.(13-15)gGc>gAc	p.G5D	AP4B1_ENST00000369566.3_Missense_Mutation_p.G5D|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.G5D|AP4B1_ENST00000256658.4_Missense_Mutation_p.G5D	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	5					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCTCGGAGCCAAGGTACGG	0.562																																						uc001eeb.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(13-15)GGC>GAC		adaptor-related protein complex 4, beta 1							206.0	183.0	191.0					1																	114447326		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114447326C>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.14G>A	1.37:g.114447326C>T	ENSP00000358582:p.Gly5Asp					AP4B1_uc001eec.2_Missense_Mutation_p.G5D|AP4B1_uc001eed.2_Missense_Mutation_p.G5D|AP4B1_uc010owp.1_5'UTR|AP4B1_uc010owq.1_Missense_Mutation_p.G5D|DCLRE1B_uc001eeg.2_5'Flank|DCLRE1B_uc001eeh.2_5'Flank|DCLRE1B_uc001eei.2_5'Flank	p.G5D	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	157	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	5					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.14G>A	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	36	5.647811	0.96714	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T	0.71103	-0.54;-0.14;-0.14	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	L	0.27053	0.805	0.43959	D	0.996637	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.988	T	0.67122	-0.5750	10	0.27785	T	0.31	0.351	18.8885	0.92389	0.0:1.0:0.0:0.0	.	5;5;5	B7Z4X3;B1ALD0;Q9Y6B7	.;.;AP4B1_HUMAN	D	5	ENSP00000358580:G5D;ENSP00000358582:G5D;ENSP00000256658:G5D	ENSP00000256658:G5D	G	-	2	0	AP4B1	114248849	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.715000	0.74697	2.626000	0.88956	0.561000	0.74099	GGC		0.562	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1		NM_006594		87	75	0	0	0	0.01441	0	87	75		
CASQ2	845	broad.mit.edu	37	1	116245548	116245548	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:116245548G>A	ENST00000261448.5	-	10	1247	c.1008C>T	c.(1006-1008)gtC>gtT	p.V336V	CASQ2_ENST00000456138.2_Silent_p.V265V	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	336					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCACATCTGTGACATTCACCA	0.483																																						uc001efx.3		NaN																	0				skin(1)	1						c.(1006-1008)GTC>GTT		cardiac calsequestrin 2 precursor							85.0	69.0	74.0					1																	116245548		2203	4300	6503	SO:0001819	synonymous_variant	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116245548G>A	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.1008C>T	1.37:g.116245548G>A						CASQ2_uc010owu.1_Silent_p.V265V	p.V336V	NM_001232	NP_001223	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	10	1272	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	336					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Silent	SNP	ENST00000261448.5	37	c.1008C>T	CCDS884.1																																																																																				0.483	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1		NM_001232		9	15	0	0	0	0.004482	0	9	15		
MAN1A2	10905	broad.mit.edu	37	1	117910898	117910898	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:117910898G>C	ENST00000356554.3	+	1	828	c.93G>C	c.(91-93)ttG>ttC	p.L31F	MAN1A2_ENST00000482811.1_3'UTR|RP11-188D8.1_ENST00000604156.1_lincRNA	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	31					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		GGGCTACCTTGAGACTTTCTG	0.493																																					Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1		NaN																	0					0						c.(91-93)TTG>TTC		mannosidase, alpha, class 1A, member 2							94.0	91.0	92.0					1																	117910898		2203	4300	6503	SO:0001583	missense	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117910898G>C	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.93G>C	1.37:g.117910898G>C	ENSP00000348959:p.Leu31Phe					MAN1A2_uc009whg.1_5'UTR	p.L31F	NM_006699	NP_006690	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	1	814	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	31			Cytoplasmic (Potential).		Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	c.93G>C	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602395	0.28534	.	.	ENSG00000198162	ENST00000356554	D	0.84223	-1.82	4.88	2.6	0.31112	.	0.000000	0.64402	D	0.000001	T	0.58892	0.2154	N	0.25789	0.76	0.50039	D	0.999841	B	0.14805	0.011	B	0.12156	0.007	T	0.54227	-0.8325	10	0.19147	T	0.46	-10.3176	9.7827	0.40658	0.2072:0.0:0.7928:0.0	.	31	O60476	MA1A2_HUMAN	F	31	ENSP00000348959:L31F	ENSP00000348959:L31F	L	+	3	2	MAN1A2	117712421	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.749000	0.55150	1.038000	0.40049	0.555000	0.69702	TTG		0.493	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1		NM_006699		29	90	0	0	0	0.00632	0	29	90		
SPAG17	200162	broad.mit.edu	37	1	118624072	118624072	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:118624072C>T	ENST00000336338.5	-	14	2021	c.1956G>A	c.(1954-1956)atG>atA	p.M652I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	652						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TATTCATTTTCATGACATATT	0.408																																						uc001ehk.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(1954-1956)ATG>ATA		sperm associated antigen 17							176.0	169.0	171.0					1																	118624072		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118624072C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1956G>A	1.37:g.118624072C>T	ENSP00000337804:p.Met652Ile						p.M652I	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	14	2024	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	652					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1956G>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	7.629	0.678466	0.14841	.	.	ENSG00000155761	ENST00000336338	T	0.17854	2.25	5.12	0.458	0.16670	.	1.406000	0.04259	N	0.339983	T	0.03520	0.0101	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.36744	-0.9735	10	0.12103	T	0.63	.	5.5829	0.17260	0.0:0.4766:0.1802:0.3433	.	652	Q6Q759	SPG17_HUMAN	I	652	ENSP00000337804:M652I	ENSP00000337804:M652I	M	-	3	0	SPAG17	118425595	0.110000	0.22057	0.027000	0.17364	0.212000	0.24457	0.517000	0.22832	0.120000	0.18254	0.591000	0.81541	ATG		0.408	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1		NM_206996		32	107	0	0	0	0.012213	0	32	107		
PDE4DIP	9659	broad.mit.edu	37	1	144952287	144952287	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:144952287C>T	ENST00000369354.3	-	4	621	c.432G>A	c.(430-432)ctG>ctA	p.L144L	PDE4DIP_ENST00000369349.3_Silent_p.L144L|PDE4DIP_ENST00000530740.1_Silent_p.L281L|PDE4DIP_ENST00000369356.4_Silent_p.L144L|PDE4DIP_ENST00000369351.3_Silent_p.L144L|PDE4DIP_ENST00000313382.9_Silent_p.L210L|PDE4DIP_ENST00000369359.4_Silent_p.L281L|PDE4DIP_ENST00000369347.4_Silent_p.L144L|PDE4DIP_ENST00000369348.3_Silent_p.L281L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	144					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGACTCCCTTCAGTTTCTCTG	0.542			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(430-432)CTG>CTA		phosphodiesterase 4D interacting protein isoform							34.0	36.0	35.0					1																	144952287		2200	4274	6474	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144952287C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.432G>A	1.37:g.144952287C>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L210L|PDE4DIP_uc001emc.1_Silent_p.L144L|PDE4DIP_uc001emd.1_Silent_p.L144L|PDE4DIP_uc001emg.1_Silent_p.L144L|PDE4DIP_uc001emh.2_Silent_p.L281L	p.L144L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	4	723	-			144					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.432G>A	CCDS30824.1																																																																																				0.542	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		8	101	0	0	0	0.010504	0	8	101		
PDE4DIP	9659	broad.mit.edu	37	1	145075044	145075044	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:145075044C>T	ENST00000369345.4	-	2	464	c.250G>A	c.(250-252)Gat>Aat	p.D84N	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369348.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCCAGCCATCAGGCAGGGCT	0.502			T	PDGFRB	MPD																																	uc001emk.2		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(250-252)GAT>AAT		SubName: Full=Phosphodiesterase 4D interacting protein;							72.0	71.0	72.0					1																	145075044		876	1991	2867	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075044C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369345.4:c.250G>A	1.37:g.145075044C>T	ENSP00000358351:p.Asp84Asn					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron	p.D84N			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	2	467	-			Error:Variant_position_missing_in_Q5VU43_after_alignment					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369345.4	37	c.250G>A		.	.	.	.	.	.	.	.	.	.	C	13.15	2.150213	0.37923	.	.	ENSG00000178104	ENST00000369345	.	.	.	3.51	0.595	0.17490	.	.	.	.	.	T	0.08537	0.0212	.	.	.	0.09310	N	1	B	0.33135	0.399	B	0.25759	0.063	T	0.21381	-1.0247	7	0.87932	D	0	.	3.5913	0.07990	0.0:0.5508:0.2117:0.2375	.	84	Q5TB27	.	N	84	.	ENSP00000358351:D84N	D	-	1	0	PDE4DIP	143786401	0.000000	0.05858	0.028000	0.17463	0.041000	0.13682	0.147000	0.16202	0.143000	0.18926	0.561000	0.74099	GAT		0.502	PDE4DIP-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000038864.2		NM_022359		8	57	0	0	0	0.006214	0	8	57		
NBPF10	100132406	broad.mit.edu	37	1	145293493	145293493	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:145293493G>A	ENST00000369339.3	+	3	341	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.E30K|NBPF10_ENST00000369338.1_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	301						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			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)		CCAGCTGGCAGAGAAGAAACA	0.483																																						uc001end.3		NaN																	0					0						c.(88-90)GAG>AAG		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145293493G>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	ENST00000369339.3:c.88G>A	1.37:g.145293493G>A	ENSP00000358345:p.Glu30Lys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.E30K|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.E30K	p.E30K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	123	+	all_hematologic(923;0.032)		30					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.88G>A		.	.	.	.	.	.	.	.	.	.	.	4.470	0.087063	0.08583	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03181	4.02	1.06	-2.12	0.07165	.	.	.	.	.	T	0.00906	0.0030	L	0.45352	1.415	0.09310	N	1	P	0.36171	0.541	B	0.33254	0.16	T	0.42068	-0.9473	9	0.41790	T	0.15	.	2.6665	0.05053	0.3533:0.2706:0.376:0.0	.	30	A8MQ30	.	K	30	ENSP00000345684:E30K	ENSP00000345684:E30K	E	+	1	0	NBPF10	144004850	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.258000	0.02863	-1.152000	0.02832	0.184000	0.17185	GAG		0.483	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3		NM_001039703		40	685	0	0	0	0.01441	0	40	685		
ANKRD35	148741	broad.mit.edu	37	1	145562892	145562892	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:145562892T>G	ENST00000355594.4	+	10	2667	c.2580T>G	c.(2578-2580)taT>taG	p.Y860*		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	860										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGAAAAGTATAATACGGCCT	0.677																																					Melanoma(9;127 754 22988 51047)	uc001eob.1		NaN																	0				ovary(4)|skin(1)	5						c.(2578-2580)TAT>TAG		ankyrin repeat domain 35							17.0	21.0	20.0					1																	145562892		2199	4290	6489	SO:0001587	stop_gained	148741							g.chr1:145562892T>G	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2580T>G	1.37:g.145562892T>G	ENSP00000347802:p.Tyr860*					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Nonsense_Mutation_p.Y703*	p.Y860*	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	2688	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		860			Potential.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Nonsense_Mutation	SNP	ENST00000355594.4	37	c.2580T>G	CCDS919.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460929	0.84317	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	.	.	.	5.49	-8.31	0.01001	.	0.000000	0.48767	D	0.000164	.	.	.	.	.	.	0.40375	D	0.979387	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8996	23.0663	0.99979	0.0:0.8675:0.0:0.1325	.	.	.	.	X	769;860	.	ENSP00000347802:Y860X	Y	+	3	2	ANKRD35	144274249	0.002000	0.14202	0.007000	0.13788	0.436000	0.31835	-2.359000	0.01085	-1.556000	0.01695	-0.911000	0.02809	TAT		0.677	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1		NM_144698		10	2	0	0	0	0.013537	0	10	2		
RNF115	27246	broad.mit.edu	37	1	145688151	145688151	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:145688151G>A	ENST00000369291.5	+	9	1050	c.846G>A	c.(844-846)caG>caA	p.Q282Q		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						GGCAAAGCCAGAGCACTGAGG	0.458																																						uc001eoj.2		NaN																	0				ovary(1)	1						c.(844-846)CAG>CAA		Rabring 7							123.0	110.0	115.0					1																	145688151		2203	4300	6503	SO:0001819	synonymous_variant	27246				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:145688151G>A	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.846G>A	1.37:g.145688151G>A						NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Silent_p.Q249Q|RNF115_uc009wiy.2_Silent_p.Q201Q	p.Q282Q	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN			9	1050	+			282						Silent	SNP	ENST00000369291.5	37	c.846G>A	CCDS922.1																																																																																				0.458	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2		NM_014455		49	114	0	0	0	0.01441	0	49	114		
GPR89B	51463	broad.mit.edu	37	1	147408770	147408770	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:147408770C>G	ENST00000314163.7	+	2	216	c.72C>G	c.(70-72)ttC>ttG	p.F24L		NM_016334.3	NP_057418.1	P0CG08	GPHRB_HUMAN	G protein-coupled receptor 89B	24					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	voltage-gated ion channel activity (GO:0005244)			large_intestine(1)	1	all_hematologic(923;0.0276)					GGTGGCTTTTCTTCATGCGCC	0.294																																						uc001epv.3		NaN																	0					0						c.(70-72)TTC>TTG		G protein-coupled receptor 89B							107.0	107.0	107.0					1																	147408770		2203	4295	6498	SO:0001583	missense	51463				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:147408770C>G	U78723	CCDS930.1	1q21.1	2014-06-19	2007-06-06	2007-06-06	ENSG00000188092	ENSG00000188092			13840	protein-coding gene	gene with protein product		612806	"""G protein-coupled receptor 89"", ""G protein-coupled receptor 89C"""	GPR89, GPR89C		11042152	Standard	NM_016334		Approved	SH120	uc001epv.4	P0CG08	OTTHUMG00000013452	ENST00000314163.7:c.72C>G	1.37:g.147408770C>G	ENSP00000358233:p.Phe24Leu					GPR89B_uc010ozs.1_Missense_Mutation_p.F24L|GPR89B_uc010ozt.1_5'UTR|GPR89B_uc010ozu.1_5'UTR|GPR89B_uc001epw.3_5'UTR|GPR89B_uc010ozv.1_5'UTR	p.F24L	NM_016334	NP_057418	B7ZAQ6	GPHRA_HUMAN			2	216	+	all_hematologic(923;0.0276)		24			Helical; (Potential).		A6NN37|B2RUV3|B3KMN3|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	ENST00000314163.7	37	c.72C>G	CCDS930.1	.	.	.	.	.	.	.	.	.	.	c	16.80	3.223211	0.58668	.	.	ENSG00000188092	ENST00000314163	.	.	.	4.07	2.04	0.26737	.	0.000000	0.85682	U	0.000000	T	0.41166	0.1147	.	.	.	0.80722	D	1	P	0.52316	0.952	P	0.51701	0.677	T	0.31223	-0.9951	8	0.45353	T	0.12	-14.3954	6.5865	0.22624	0.0:0.6573:0.0:0.3427	.	24	B4DT03	.	L	24	.	ENSP00000358233:F24L	F	+	3	2	GPR89B	145875394	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.633000	0.24598	0.311000	0.23014	0.479000	0.44913	TTC		0.294	GPR89B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037481.2		NM_016334		32	176	0	0	0	0.005524	0	32	176		
HIST2H3D	653604	broad.mit.edu	37	1	149785205	149785205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:149785205G>A	ENST00000331491.1	-	1	31	c.32C>T	c.(31-33)tCg>tTg	p.S11L	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	11					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GCCGCCGGTCGACTTGCGGGC	0.622																																						uc010pbl.1		NaN																	0					0						c.(31-33)TCG>TTG		histone cluster 2, H3d							25.0	26.0	26.0					1																	149785205		1515	3490	5005	SO:0001583	missense	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149785205G>A	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.32C>T	1.37:g.149785205G>A	ENSP00000333277:p.Ser11Leu					HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	p.S11L	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN			1	32	-			11					A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	c.32C>T	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823876	0.32237	.	.	ENSG00000183598	ENST00000331491	T	0.47528	0.84	4.13	4.13	0.48395	.	0.000000	0.52532	U	0.000072	T	0.55832	0.1945	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.62558	-0.6829	7	0.87932	D	0	.	15.4963	0.75653	0.0:0.0:1.0:0.0	.	.	.	.	L	11	ENSP00000333277:S11L	ENSP00000333277:S11L	S	-	2	0	HIST2H3D	148051829	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	6.780000	0.75063	2.302000	0.77476	0.436000	0.28706	TCG		0.622	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1		NM_001123375		13	28	0	0	0	0.012319	0	13	28		
ANP32E	81611	broad.mit.edu	37	1	150193049	150193049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:150193049G>A	ENST00000314136.8	-	7	1120	c.751C>T	c.(751-753)Cga>Tga	p.R251*	ANP32E_ENST00000369116.4_Nonsense_Mutation_p.R119*|ANP32E_ENST00000533654.1_3'UTR|ANP32E_ENST00000436748.2_Nonsense_Mutation_p.R210*|ANP32E_ENST00000369119.3_Nonsense_Mutation_p.R203*|ANP32E_ENST00000369114.5_Nonsense_Mutation_p.R132*|ANP32E_ENST00000369115.2_Nonsense_Mutation_p.R119*	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	251	Asp/Glu-rich (highly acidic).|ZID domain.				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTCCCCTCGAAGACCTCCT	0.368																																						uc001etw.2		NaN																	0					0						c.(751-753)CGA>TGA		acidic (leucine-rich) nuclear phosphoprotein 32							266.0	255.0	259.0					1																	150193049		2203	4300	6503	SO:0001587	stop_gained	81611					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	g.chr1:150193049G>A	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"""ANP32 acidic nuclear phosphoproteins"""	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.751C>T	1.37:g.150193049G>A	ENSP00000324074:p.Arg251*					ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Nonsense_Mutation_p.R203*|ANP32E_uc010pbv.1_Nonsense_Mutation_p.R210*|ANP32E_uc001etv.3_Nonsense_Mutation_p.R250*	p.R251*	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1121	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		251			Asp/Glu-rich (highly acidic).		B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Nonsense_Mutation	SNP	ENST00000314136.8	37	c.751C>T	CCDS946.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467982	0.96257	.	.	ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369116;ENST00000436748;ENST00000534437;ENST00000369114;ENST00000369115	.	.	.	5.87	2.98	0.34508	.	0.281406	0.30201	N	0.010176	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0805	0.36550	0.1333:0.1218:0.7448:0.0	.	.	.	.	X	251;203;119;210;83;132;119	.	ENSP00000324074:R251X	R	-	1	2	ANP32E	148459673	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.698000	0.54771	0.482000	0.27582	-0.150000	0.13652	CGA		0.368	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1		NM_030920		316	154	0	0	0	0.01441	0	316	154		
ADAMTSL4	54507	broad.mit.edu	37	1	150532646	150532646	+	Missense_Mutation	SNP	G	G	A	rs587758883		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:150532646G>A	ENST00000369038.2	+	17	3400	c.3199G>A	c.(3199-3201)Gag>Aag	p.E1067K	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.E1090K|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.E1067K|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	1067					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACATGTCCTGGAGCGGTCTCC	0.627											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001eux.2		NaN																	0				ovary(1)|skin(1)	2						c.(3199-3201)GAG>AAG		thrombospondin repeat containing 1 isoform 1							94.0	81.0	85.0					1																	150532646		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150532646G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.3199G>A	1.37:g.150532646G>A	ENSP00000358034:p.Glu1067Lys		OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1733	ADAMTSL4_uc009wlw.2_Missense_Mutation_p.E1090K|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.E1028K|ADAMTSL4_uc009wlx.2_Missense_Mutation_p.E230K	p.E1067K	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		19	3435	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		1067					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.3199G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882585	0.72294	.	.	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.62105	0.05;0.37;0.05	5.5	4.53	0.55603	.	.	.	.	.	T	0.36303	0.0962	L	0.36672	1.1	0.36637	D	0.876632	P;B;P	0.44429	0.835;0.336;0.799	B;B;B	0.37480	0.251;0.228;0.194	T	0.42155	-0.9468	9	0.46703	T	0.11	.	11.4507	0.50151	0.0:0.1816:0.8184:0.0	.	1028;1090;1067	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	K	1067;1090;1067	ENSP00000271643:E1067K;ENSP00000358035:E1090K;ENSP00000358034:E1067K	ENSP00000271643:E1067K	E	+	1	0	ADAMTSL4	148799270	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.915000	0.48805	2.573000	0.86826	0.561000	0.74099	GAG		0.627	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4		NM_019032		83	24	0	0	0	0.01441	0	83	24		
MCL1	4170	broad.mit.edu	37	1	150550774	150550774	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:150550774G>A	ENST00000369026.2	-	2	941	c.882C>T	c.(880-882)atC>atT	p.I294I	MCL1_ENST00000307940.3_Intron|MCL1_ENST00000464132.1_5'UTR	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	294					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAACGTCTGTGATACTTTCTG	0.453																																						uc001euz.2		NaN																	0					0						c.(880-882)ATC>ATT		myeloid cell leukemia sequence 1 isoform 1							163.0	163.0	163.0					1																	150550774		2203	4300	6503	SO:0001819	synonymous_variant	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150550774G>A	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.882C>T	1.37:g.150550774G>A						MCL1_uc010pch.1_Silent_p.I184I|MCL1_uc001eva.2_Intron	p.I294I	NM_021960	NP_068779	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		2	1012	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		294					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Silent	SNP	ENST00000369026.2	37	c.882C>T	CCDS957.1																																																																																				0.453	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1		NM_021960		34	266	0	0	0	0.00874	0	34	266		
PRUNE	58497	broad.mit.edu	37	1	150981133	150981133	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:150981133C>G	ENST00000271620.3	+	1	181	c.25C>G	c.(25-27)Cga>Gga	p.R9G	FAM63A_ENST00000361738.6_5'Flank|FAM63A_ENST00000361936.5_5'Flank|FAM63A_ENST00000312210.5_5'Flank|PRUNE_ENST00000368935.1_5'UTR|PRUNE_ENST00000368937.1_5'UTR|PRUNE_ENST00000467771.1_3'UTR|FAM63A_ENST00000493834.2_5'Flank|PRUNE_ENST00000271619.8_Missense_Mutation_p.R9G|FAM63A_ENST00000470877.1_5'Flank|PRUNE_ENST00000368936.1_5'UTR	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	9						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCAGGGTTGTCGAGCTGCTCT	0.602																																						uc001ewh.1		NaN																	0				ovary(1)	1						c.(25-27)CGA>GGA		prune							146.0	130.0	135.0					1																	150981133		2203	4300	6503	SO:0001583	missense	58497					cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding	g.chr1:150981133C>G	U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.25C>G	1.37:g.150981133C>G	ENSP00000271620:p.Arg9Gly					PRUNE_uc001ewi.1_5'UTR|PRUNE_uc010pco.1_5'UTR|PRUNE_uc001ewj.1_5'UTR|FAM63A_uc001ewc.2_5'Flank|FAM63A_uc010pcm.1_5'Flank|FAM63A_uc001ewd.2_5'Flank|FAM63A_uc001ewe.2_5'Flank|FAM63A_uc001ewf.2_5'Flank|FAM63A_uc010pcn.1_5'Flank|FAM63A_uc001ewg.2_5'Flank	p.R9G	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	161	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		9					B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	ENST00000271620.3	37	c.25C>G	CCDS977.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695321	0.48202	.	.	ENSG00000143363	ENST00000271620;ENST00000302413;ENST00000271619	T;T	0.36699	1.24;1.33	4.84	4.84	0.62591	.	0.177923	0.36628	N	0.002481	T	0.45538	0.1347	M	0.82323	2.585	0.23978	N	0.996287	D	0.63046	0.992	P	0.58820	0.846	T	0.40905	-0.9538	10	0.87932	D	0	-2.6926	10.8082	0.46531	0.1887:0.8113:0.0:0.0	.	9	Q86TP1	PRUNE_HUMAN	G	9	ENSP00000271620:R9G;ENSP00000271619:R9G	ENSP00000271619:R9G	R	+	1	2	PRUNE	149247757	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.001000	0.29783	2.666000	0.90696	0.561000	0.74099	CGA		0.602	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1		NM_021222		35	203	0	0	0	0.004878	0	35	203		
C1orf56	54964	broad.mit.edu	37	1	151021023	151021023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151021023C>T	ENST00000368926.5	+	1	808	c.700C>T	c.(700-702)Cga>Tga	p.R234*		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	234						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGCGCCTTCGAGTTGGGGC	0.657											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	uc001ewn.2		NaN																	0					0						c.(700-702)CGA>TGA		hypothetical protein LOC54964 precursor							76.0	85.0	82.0					1																	151021023		2203	4300	6503	SO:0001587	stop_gained	54964					extracellular region		g.chr1:151021023C>T	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.700C>T	1.37:g.151021023C>T	ENSP00000357922:p.Arg234*		OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737		p.R234*	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	765	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		234					B2RDU8|Q9NWZ4	Nonsense_Mutation	SNP	ENST00000368926.5	37	c.700C>T	CCDS980.1	.	.	.	.	.	.	.	.	.	.	C	37	6.147117	0.97324	.	.	ENSG00000143443	ENST00000368926	.	.	.	5.23	3.33	0.38152	.	0.000000	0.40640	N	0.001049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2644	10.6708	0.45757	0.3486:0.6514:0.0:0.0	.	.	.	.	X	234	.	ENSP00000357922:R234X	R	+	1	2	C1orf56	149287647	0.190000	0.23276	0.957000	0.39632	0.833000	0.47200	1.405000	0.34635	0.751000	0.32900	-0.175000	0.13238	CGA		0.657	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1		NM_017860		206	86	0	0	0	0.01441	0	206	86		
PI4KB	5298	broad.mit.edu	37	1	151288752	151288752	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151288752G>A	ENST00000368873.1	-	2	374	c.206C>T	c.(205-207)tCt>tTt	p.S69F	PI4KB_ENST00000368872.1_Missense_Mutation_p.S69F|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Missense_Mutation_p.S81F|PI4KB_ENST00000368874.4_Missense_Mutation_p.S69F|PI4KB_ENST00000368875.2_Missense_Mutation_p.S81F			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	69	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCTGCTAGAGACTGCCAC	0.572																																					Colon(154;765 1838 9854 28443 37492)	uc001ext.2		NaN																	0				ovary(2)|skin(2)	4						c.(205-207)TCT>TTT		catalytic phosphatidylinositol 4-kinase beta							99.0	81.0	87.0					1																	151288752		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288752G>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.206C>T	1.37:g.151288752G>A	ENSP00000357867:p.Ser69Phe					PI4KB_uc001exr.2_Missense_Mutation_p.S81F|PI4KB_uc001exs.2_Missense_Mutation_p.S69F|PI4KB_uc001exu.2_Missense_Mutation_p.S69F|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.S81F	p.S69F	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	621	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		69					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.206C>T		.	.	.	.	.	.	.	.	.	.	G	9.744	1.165774	0.21538	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.38	4.46	0.54185	.	0.193482	0.44688	D	0.000433	T	0.15003	0.0362	N	0.19112	0.55	0.09310	N	1	B;B;B	0.32467	0.372;0.159;0.09	B;B;B	0.27170	0.077;0.016;0.016	T	0.06862	-1.0803	10	0.72032	D	0.01	-7.3011	10.1404	0.42732	0.0:0.1488:0.6969:0.1543	.	69;69;69	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	F	69;81;81;69;69;69	ENSP00000357868:S69F;ENSP00000357869:S81F;ENSP00000271657:S81F;ENSP00000357867:S69F;ENSP00000357866:S69F;ENSP00000394719:S69F	ENSP00000271657:S81F	S	-	2	0	PI4KB	149555376	0.011000	0.17503	0.998000	0.56505	0.515000	0.34225	0.358000	0.20216	1.493000	0.48517	0.655000	0.94253	TCT		0.572	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651		15	137	0	0	0	0.004007	0	15	137		
SELENBP1	8991	broad.mit.edu	37	1	151339220	151339220	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151339220G>A	ENST00000368868.5	-	6	733	c.642C>T	c.(640-642)ttC>ttT	p.F214F	SELENBP1_ENST00000426705.2_Silent_p.F256F|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000435071.1_Silent_p.F150F|SELENBP1_ENST00000447402.3_Silent_p.F152F	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	214					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCGGGGTTGAAGCCATCTC	0.582																																						uc001exx.2		NaN																	0					0						c.(640-642)TTC>TTT		selenium binding protein 1							186.0	159.0	168.0					1																	151339220		2203	4300	6503	SO:0001819	synonymous_variant	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151339220G>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.642C>T	1.37:g.151339220G>A						SELENBP1_uc010pcy.1_Silent_p.F256F|SELENBP1_uc001exy.2_Silent_p.F111F|SELENBP1_uc001exz.2_Silent_p.F111F|SELENBP1_uc010pcz.1_Silent_p.F152F|SELENBP1_uc009wms.2_Intron|SELENBP1_uc009wmt.2_Silent_p.F111F|SELENBP1_uc001eya.2_Silent_p.F150F|SELENBP1_uc009wmu.2_Silent_p.F111F	p.F214F	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	689	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		214					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	c.642C>T	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	9.574	1.121706	0.20877	.	.	ENSG00000143416	ENST00000424475	.	.	.	5.22	4.28	0.50868	.	.	.	.	.	T	0.47340	0.1440	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47898	-0.9081	4	.	.	.	-5.8917	9.5973	0.39582	0.1794:0.0:0.8206:0.0	.	.	.	.	L	175	.	.	S	-	2	0	SELENBP1	149605844	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.203000	0.32284	1.259000	0.44117	0.561000	0.74099	TCA		0.582	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4				51	225	0	0	0	0.01441	0	51	225		
PSMB4	5692	broad.mit.edu	37	1	151372617	151372617	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151372617G>A	ENST00000290541.6	+	2	355	c.301G>A	c.(301-303)Gac>Aac	p.D101N		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCTCTGGCGACTACGCTGA	0.537																																						uc001eyc.1		NaN																	0				ovary(2)	2						c.(301-303)GAC>AAC		proteasome beta 4 subunit							166.0	164.0	165.0					1																	151372617		2203	4300	6503	SO:0001583	missense	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372617G>A	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.301G>A	1.37:g.151372617G>A	ENSP00000290541:p.Asp101Asn					PSMB4_uc010pda.1_Missense_Mutation_p.D101N|PSMB4_uc001eyb.1_Missense_Mutation_p.D101N	p.D101N	NM_002796	NP_002787	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	324	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		101					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	37	c.301G>A	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362321	0.95877	.	.	ENSG00000159377	ENST00000290541	T	0.21932	1.98	5.34	5.34	0.76211	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.64483	-0.6397	10	0.87932	D	0	-29.7311	17.6208	0.88080	0.0:0.0:1.0:0.0	.	101;101	B4DFL3;P28070	.;PSB4_HUMAN	N	101	ENSP00000290541:D101N	ENSP00000290541:D101N	D	+	1	0	PSMB4	149639241	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.392000	0.79840	2.502000	0.84385	0.561000	0.74099	GAC		0.537	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1		NM_002796		56	402	0	0	0	0.01441	0	56	402		
TUFT1	7286	broad.mit.edu	37	1	151542174	151542174	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151542174G>C	ENST00000368849.3	+	7	584	c.522G>C	c.(520-522)aaG>aaC	p.K174N	TUFT1_ENST00000368848.2_Missense_Mutation_p.K149N|TUFT1_ENST00000538902.1_Missense_Mutation_p.K193N|TUFT1_ENST00000353024.3_Missense_Mutation_p.K115N|TUFT1_ENST00000392712.3_Missense_Mutation_p.K119N	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	174					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTTGAGGAAGACGGTGCAGG	0.512																																						uc001eyl.2		NaN																	0					0						c.(520-522)AAG>AAC		tuftelin 1 isoform 1							268.0	261.0	263.0					1																	151542174		2203	4300	6503	SO:0001583	missense	7286				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	g.chr1:151542174G>C	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.522G>C	1.37:g.151542174G>C	ENSP00000357842:p.Lys174Asn					TUFT1_uc001eym.2_Missense_Mutation_p.K149N|TUFT1_uc010pdf.1_Missense_Mutation_p.K193N|TUFT1_uc010pdg.1_Missense_Mutation_p.K122N	p.K174N	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	584	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		174			Potential.		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	c.522G>C	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326007	0.41197	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902;ENST00000507671	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.31	1.9	0.25705	.	0.392010	0.30800	N	0.008846	T	0.14830	0.0358	L	0.57536	1.79	0.19300	N	0.999979	P;P;P	0.47762	0.9;0.597;0.552	P;B;B	0.44990	0.466;0.438;0.438	T	0.05716	-1.0868	10	0.36615	T	0.2	-5.4284	7.501	0.27518	0.1819:0.1453:0.6729:0.0	.	193;149;174	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	N	174;119;115;149;193;149	ENSP00000357842:K174N;ENSP00000376476:K119N;ENSP00000343781:K115N;ENSP00000357841:K149N;ENSP00000437997:K193N	ENSP00000343781:K115N	K	+	3	2	TUFT1	149808798	1.000000	0.71417	0.135000	0.22099	0.462000	0.32619	4.113000	0.57851	0.608000	0.30000	-0.312000	0.09012	AAG		0.512	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1		NM_020127		62	405	0	0	0	0.01441	0	62	405		
RORC	6097	broad.mit.edu	37	1	151785508	151785508	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151785508G>T	ENST00000318247.6	-	9	1307	c.1200C>A	c.(1198-1200)atC>atA	p.I400I	RORC_ENST00000392697.3_Silent_p.I454I|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000356728.6_Silent_p.I379I	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	400	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGAAGTCAAAGATGGAGCTGA	0.537																																						uc001ezh.2		NaN																	0				ovary(1)|skin(1)	2						c.(1198-1200)ATC>ATA		RAR-related orphan receptor C isoform a							95.0	77.0	83.0					1																	151785508		2203	4300	6503	SO:0001819	synonymous_variant	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151785508G>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1200C>A	1.37:g.151785508G>T						RORC_uc001ezg.2_Silent_p.I379I|RORC_uc010pdo.1_Silent_p.I454I|RORC_uc010pdp.1_Silent_p.I388I	p.I400I	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		9	1308	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		400			Ligand-binding.		Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	c.1200C>A	CCDS1004.1																																																																																				0.537	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1				72	26	1	0	1.49723e-40	0.01441	1.59186e-40	72	26		
TCHH	7062	broad.mit.edu	37	1	152083964	152083964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:152083964G>A	ENST00000368804.1	-	2	1728	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	577	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCAGCAGCTGATCGCGCCTC	0.672																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1729-1731)CAG>TAG		trichohyalin							50.0	55.0	53.0					1																	152083964		1990	4165	6155	SO:0001587	stop_gained	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083964G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1729C>T	1.37:g.152083964G>A	ENSP00000357794:p.Gln577*					TCHH_uc009wne.1_Nonsense_Mutation_p.Q577*	p.Q577*	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1729	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		577			9 X 28 AA approximate tandem repeats.		Q5VUI3	Nonsense_Mutation	SNP	ENST00000368804.1	37	c.1729C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.103524	0.76983	.	.	ENSG00000159450	ENST00000368804	.	.	.	2.01	0.908	0.19326	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	6.7625	0.23548	0.0:0.5307:0.4693:0.0	.	.	.	.	X	577	.	ENSP00000357794:Q577X	Q	-	1	0	TCHH	150350588	0.005000	0.15991	0.006000	0.13384	0.148000	0.21650	0.294000	0.19047	0.979000	0.38497	0.175000	0.17021	CAG		0.672	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		28	56	0	0	0	0.003271	0	28	56		
FLG	2312	broad.mit.edu	37	1	152276091	152276091	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:152276091G>A	ENST00000368799.1	-	3	11306	c.11271C>T	c.(11269-11271)acC>acT	p.T3757T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3757	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCACGAATGGTGTCCTGAC	0.607									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11269-11271)ACC>ACT		filaggrin							333.0	327.0	329.0					1																	152276091		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276091G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11271C>T	1.37:g.152276091G>A							p.T3757T	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11307	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3757			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11271C>T	CCDS30860.1																																																																																				0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		559	215	0	0	0	0.01441	0	559	215		
S100A6	6277	broad.mit.edu	37	1	153507246	153507246	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:153507246C>T	ENST00000368720.2	-	4	501	c.199G>A	c.(199-201)Gag>Aag	p.E67K	BX470102.3_ENST00000420695.1_RNA|S100A6_ENST00000368719.4_Missense_Mutation_p.E67K|S100A6_ENST00000496817.1_Missense_Mutation_p.E67K			P06703	S10A6_HUMAN	S100 calcium binding protein A6	67	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axonogenesis (GO:0007409)|positive regulation of fibroblast proliferation (GO:0048146)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|ion transmembrane transporter activity (GO:0015075)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)|tropomyosin binding (GO:0005523)|zinc ion binding (GO:0008270)			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGTTCACCTCCTGGTCCTTG	0.478																																						uc001fbw.1		NaN																	0				ovary(1)	1						c.(199-201)GAG>AAG		S100 calcium-binding protein A6							106.0	99.0	102.0					1																	153507246		2203	4300	6503	SO:0001583	missense	6277				axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding	g.chr1:153507246C>T	BC001431	CCDS1040.1	1q21	2013-01-10	2006-09-11		ENSG00000197956	ENSG00000197956		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10496	protein-coding gene	gene with protein product		114110	"""S100 calcium-binding protein A6 (calcyclin)"", ""S100 calcium binding protein A6 (calcyclin)"""	CACY			Standard	NM_014624		Approved	2A9, PRA, CABP	uc001fbw.1	P06703	OTTHUMG00000013549	ENST00000368720.2:c.199G>A	1.37:g.153507246C>T	ENSP00000357709:p.Glu67Lys						p.E67K	NM_014624	NP_055439	P06703	S10A6_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	513	-	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		67			EF-hand 2.|2.		D3DV39|Q5RHS4	Missense_Mutation	SNP	ENST00000368720.2	37	c.199G>A	CCDS1040.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011711	0.75046	.	.	ENSG00000197956	ENST00000368719;ENST00000368720	T;T	0.05580	3.42;3.42	5.2	5.2	0.72013	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.371658	0.29002	N	0.013445	T	0.02807	0.0084	.	.	.	0.41700	D	0.989394	B	0.30193	0.272	B	0.30401	0.115	T	0.50013	-0.8877	9	0.30854	T	0.27	.	14.2755	0.66177	0.0:1.0:0.0:0.0	.	67	P06703	S10A6_HUMAN	K	67	ENSP00000357708:E67K;ENSP00000357709:E67K	ENSP00000357708:E67K	E	-	1	0	S100A6	151773870	0.001000	0.12720	1.000000	0.80357	0.988000	0.76386	1.103000	0.31062	2.434000	0.82447	0.655000	0.94253	GAG		0.478	S100A6-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037723.2		NM_014624		112	95	0	0	0	0.01441	0	112	95		
ZBTB7B	51043	broad.mit.edu	37	1	154988999	154988999	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:154988999C>T	ENST00000368426.3	+	4	1595	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	ZBTB7B_ENST00000535420.1_Silent_p.L486L|ZBTB7B_ENST00000417934.2_Silent_p.L520L|ZBTB7B_ENST00000292176.2_Silent_p.L486L	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	486					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCTCGACCTCTCCAATGGCC	0.682																																						uc001fgk.3		NaN																	0					0						c.(1456-1458)CTC>CTT		zinc finger and BTB domain containing 7B							93.0	68.0	77.0					1																	154988999		2203	4300	6503	SO:0001819	synonymous_variant	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988999C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1458C>T	1.37:g.154988999C>T						ZBTB7B_uc009wpa.2_Silent_p.L486L|ZBTB7B_uc001fgj.3_Silent_p.L520L|ZBTB7B_uc010peq.1_Silent_p.L520L|ZBTB7B_uc001fgl.3_Silent_p.L486L	p.L486L	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1616	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		486					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	SNP	ENST00000368426.3	37	c.1458C>T	CCDS1081.1																																																																																				0.682	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1		NM_015872		8	42	0	0	0	0.010729	0	8	42		
MUC1	4582	broad.mit.edu	37	1	155161824	155161824	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:155161824G>A	ENST00000368395.1	-	2	380	c.309C>T	c.(307-309)gtC>gtT	p.V103V	MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000342482.4_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368390.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	883					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|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)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGGCCTGGTGACTGGGACCG	0.697			T	IGH@	B-NHL																																	uc010pft.1		NaN		Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		0				large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(307-309)GTC>GTT		SubName: Full=MUC1 isoform M13;																																				SO:0001819	synonymous_variant	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155161824G>A	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.309C>T	1.37:g.155161824G>A						RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Silent_p.V112V|MUC1_uc001fiw.1_Silent_p.V103V	p.V103V			P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	375	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		103			Extracellular (Potential).|3.		A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Silent	SNP	ENST00000368395.1	37	c.309C>T	CCDS55640.1																																																																																				0.697	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1		NM_002456		9	50	0	0	0	0.004482	0	9	50		
GON4L	54856	broad.mit.edu	37	1	155823271	155823271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:155823271G>A	ENST00000368331.1	-	2	349	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q101*|GON4L_ENST00000437809.1_Nonsense_Mutation_p.Q101*|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q101*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	101					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTGATTCCCTGAGAGATGGCC	0.443																																						uc001flz.2		NaN																	0				ovary(3)	3						c.(301-303)CAG>TAG		gon-4-like isoform a							174.0	162.0	166.0					1																	155823271		2203	4300	6503	SO:0001587	stop_gained	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155823271G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.301C>T	1.37:g.155823271G>A	ENSP00000357315:p.Gln101*					GON4L_uc001fly.1_Nonsense_Mutation_p.Q101*|GON4L_uc009wrh.1_Nonsense_Mutation_p.Q101*|GON4L_uc001fma.1_Nonsense_Mutation_p.Q101*|GON4L_uc001fmc.2_Nonsense_Mutation_p.Q101*|GON4L_uc001fmd.3_Nonsense_Mutation_p.Q101*|GON4L_uc009wri.2_5'UTR	p.Q101*	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			2	398	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		101					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	ENST00000368331.1	37	c.301C>T		.	.	.	.	.	.	.	.	.	.	G	26.9	4.785221	0.90282	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	.	.	.	4.48	3.55	0.40652	.	0.169473	0.28683	N	0.014493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.5912	0.39548	0.0:0.0:0.7907:0.2092	.	.	.	.	X	101	.	ENSP00000271883:Q101X	Q	-	1	0	GON4L	154089895	1.000000	0.71417	0.996000	0.52242	0.588000	0.36517	2.676000	0.46883	1.061000	0.40601	0.561000	0.74099	CAG		0.443	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292		49	362	0	0	0	0.01441	0	49	362		
MEX3A	92312	broad.mit.edu	37	1	156051412	156051412	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156051412C>T	ENST00000532414.2	-	1	377	c.378G>A	c.(376-378)ctG>ctA	p.L126L	LMNA_ENST00000368301.2_5'Flank|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	126						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCTGCCCTTCAGGCGCAGCT	0.716																																						uc001fnd.3		NaN																	0					0						c.(376-378)CTG>CTA		MEX3A protein							7.0	7.0	7.0					1																	156051412		1988	4144	6132	SO:0001819	synonymous_variant	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156051412C>T	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.378G>A	1.37:g.156051412C>T						LMNA_uc001fnf.1_5'Flank	p.L126L	NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN			1	378	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		126						Silent	SNP	ENST00000532414.2	37	c.378G>A	CCDS53377.1																																																																																				0.716	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3		NM_001093725		19	0	0	0	0	0.008871	0	19	0		
TMEM79	84283	broad.mit.edu	37	1	156256052	156256052	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156256052G>A	ENST00000405535.2	+	3	930	c.759G>A	c.(757-759)ggG>ggA	p.G253G	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Splice_Site_p.D15N|TMEM79_ENST00000295694.5_Splice_Site_p.G253G	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	253					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TCCACCCAGGGATCCTGGTGT	0.612																																						uc010phi.1		NaN																	0				central_nervous_system(1)	1						c.(757-759)GGG>GGA		transmembrane protein 79							78.0	77.0	77.0					1																	156256052		2203	4300	6503	SO:0001630	splice_region_variant	84283					integral to membrane		g.chr1:156256052G>A	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.758-1G>A	1.37:g.156256052G>A						TMEM79_uc001fod.2_Silent_p.G94G|TMEM79_uc009wrw.2_Silent_p.G253G	p.G253G	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN			3	955	+	Hepatocellular(266;0.158)		253			Helical; (Potential).		B2RE22|D3DVB8	Silent	SNP	ENST00000405535.2	37	c.759G>A	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032662	0.35893	.	.	ENSG00000163472	ENST00000357501;ENST00000456810	.	.	.	5.79	1.71	0.24356	.	.	.	.	.	T	0.46268	0.1384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48681	-0.9014	5	0.87932	D	0	.	5.289	0.15717	0.2306:0.2775:0.492:0.0	.	.	.	.	N	15	.	ENSP00000350100:D15N	D	+	1	0	TMEM79	154522676	0.904000	0.30761	0.987000	0.45799	0.927000	0.56198	0.177000	0.16801	0.059000	0.16252	0.561000	0.74099	GAT		0.612	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1		NM_032323	Silent	26	105	0	0	0	0.003954	0	26	105		
C1orf85	112770	broad.mit.edu	37	1	156263941	156263941	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156263941C>T	ENST00000362007.1	-	4	692	c.666G>A	c.(664-666)ctG>ctA	p.L222L	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	222					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGGCTCCAATCAGGGCCACCT	0.627																																						uc001foh.2		NaN																	0				ovary(2)	2						c.(664-666)CTG>CTA		kidney predominant protein NCU-G1 precursor							57.0	58.0	57.0					1																	156263941		2203	4300	6503	SO:0001819	synonymous_variant	112770				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr1:156263941C>T	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.666G>A	1.37:g.156263941C>T						C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Silent_p.L222L|C1orf85_uc009wrx.2_Silent_p.L155L|C1orf85_uc001foj.2_Silent_p.L136L	p.L222L	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN			4	679	-	Hepatocellular(266;0.158)		222			Lumenal (Potential).		A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Silent	SNP	ENST00000362007.1	37	c.666G>A	CCDS1139.1																																																																																				0.627	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1		NM_144580		101	41	0	0	0	0.01441	0	101	41		
CCT3	7203	broad.mit.edu	37	1	156280783	156280783	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156280783C>T	ENST00000295688.3	-	12	1639	c.1359G>A	c.(1357-1359)caG>caA	p.Q453Q	CCT3_ENST00000472765.2_Silent_p.Q408Q|CCT3_ENST00000368261.3_Silent_p.Q408Q|CCT3_ENST00000368259.2_Silent_p.Q415Q	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	453					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CCCCACAGTTCTGGATCAGGG	0.537																																						uc001fol.1		NaN																	0				ovary(1)|skin(1)	2						c.(1357-1359)CAG>CAA		chaperonin containing TCP1, subunit 3 isoform a							67.0	56.0	60.0					1																	156280783		2203	4300	6503	SO:0001819	synonymous_variant	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156280783C>T	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1359G>A	1.37:g.156280783C>T						CCT3_uc001fom.1_Silent_p.Q452Q|CCT3_uc001fon.1_Silent_p.Q415Q|CCT3_uc010phj.1_Silent_p.Q407Q|CCT3_uc010phk.1_Silent_p.Q407Q|CCT3_uc010phl.1_Silent_p.Q407Q	p.Q453Q	NM_005998	NP_005989	P49368	TCPG_HUMAN			12	1579	-	Hepatocellular(266;0.158)		453					A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	37	c.1359G>A	CCDS1140.2																																																																																				0.537	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3		NM_005998		11	116	0	0	0	0.010729	0	11	116		
RHBG	57127	broad.mit.edu	37	1	156354598	156354598	+	3'UTR	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156354598G>A	ENST00000368249.1	+	0	1377				RHBG_ENST00000255013.3_3'UTR|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000400992.2_3'UTR|RHBG_ENST00000368246.2_Silent_p.Q445Q	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ATAAAGCCCAGAGACCTCTGA	0.592											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010pho.1		NaN																	0				ovary(2)	2						c.(1336-1338)CAG>CAA		Rhesus blood group, B glycoprotein							48.0	57.0	54.0					1																	156354598		2007	4166	6173	SO:0001624	3_prime_UTR_variant	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156354598G>A	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.*13G>A	1.37:g.156354598G>A			OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1777	RHBG_uc001fos.2_3'UTR|RHBG_uc009wrz.2_3'UTR|RHBG_uc001for.2_3'UTR	p.Q446Q	NM_020407	NP_065140	Q9H310	RHBG_HUMAN			11	1376	+	Hepatocellular(266;0.158)		Error:Variant_position_missing_in_Q9H310_after_alignment					A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	ENST00000368249.1	37	c.1338G>A																																																																																					0.592	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2		NM_001256395		34	8	0	0	0	0.003755	0	34	8		
FCRL4	83417	broad.mit.edu	37	1	157550118	157550118	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:157550118C>T	ENST00000271532.1	-	8	1405	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	424					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CACCTGGTTTCGTCTCCCAAG	0.413																																						uc001fqw.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1270-1272)GAA>AAA		Fc receptor-like 4 precursor							150.0	145.0	147.0					1																	157550118		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157550118C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1270G>A	1.37:g.157550118C>T	ENSP00000271532:p.Glu424Lys					FCRL4_uc010phy.1_RNA	p.E424K	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			8	1406	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	424			Cytoplasmic (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1270G>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	4.582	0.108146	0.08780	.	.	ENSG00000163518	ENST00000271532	T	0.19394	2.15	3.83	0.257	0.15574	.	2.284100	0.03236	U	0.179670	T	0.04318	0.0119	L	0.55990	1.75	0.09310	N	1	B	0.30211	0.273	B	0.17722	0.019	T	0.19582	-1.0301	10	0.06891	T	0.86	.	3.0405	0.06137	0.0:0.4463:0.2569:0.2968	.	424	Q96PJ5	FCRL4_HUMAN	K	424	ENSP00000271532:E424K	ENSP00000271532:E424K	E	-	1	0	FCRL4	155816742	0.000000	0.05858	0.005000	0.12908	0.684000	0.39900	0.599000	0.24089	0.279000	0.22186	0.650000	0.86243	GAA		0.413	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1		NM_031282		202	80	0	0	0	0.01441	0	202	80		
CFAP45	25790	broad.mit.edu	37	1	159842861	159842861	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:159842861C>T	ENST00000368099.4	-	11	1514	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	CCDC19_ENST00000426543.2_Missense_Mutation_p.E399K|CCDC19_ENST00000476696.1_5'UTR|RP11-190A12.7_ENST00000544342.1_5'Flank	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGCTGGTTCTCGCGCACCTGG	0.602																																						uc001fui.2		NaN																	0				ovary(1)	1						c.(1450-1452)GAG>AAG		nasopharyngeal epithelium specific protein 1							72.0	69.0	70.0					1																	159842861		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159842861C>T																												ENST00000368099.4:c.1450G>A	1.37:g.159842861C>T	ENSP00000357079:p.Glu484Lys					CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E399K|CCDC19_uc001ful.2_Missense_Mutation_p.E399K	p.E484K	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		11	1468	-	all_hematologic(112;0.0597)		484			Potential.			Missense_Mutation	SNP	ENST00000368099.4	37	c.1450G>A	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329869	0.95733	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.12361	2.69;2.69	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	M	0.83953	2.67	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.08659	-1.0711	9	.	.	.	-31.2771	16.7324	0.85438	0.0:1.0:0.0:0.0	.	484	Q9UL16	CCD19_HUMAN	K	484;399	ENSP00000357079:E484K;ENSP00000403044:E399K	.	E	-	1	0	CCDC19	158109485	1.000000	0.71417	0.964000	0.40570	0.974000	0.67602	6.265000	0.72534	2.609000	0.88269	0.655000	0.94253	GAG		0.602	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1				28	94	0	0	0	0.008361	0	28	94		
IGSF8	93185	broad.mit.edu	37	1	160063790	160063790	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160063790G>T	ENST00000368086.1	-	3	830	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.S205Y			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	205	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGGGCACAGATCGCCCAAA	0.627																																						uc001fva.2		NaN																	0					0						c.(613-615)TCT>TAT		immunoglobulin superfamily, member 8							97.0	91.0	93.0					1																	160063790		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160063790G>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.614C>A	1.37:g.160063790G>T	ENSP00000357065:p.Ser205Tyr					IGSF8_uc001fuz.2_Missense_Mutation_p.S205Y|IGSF8_uc009wtf.2_Missense_Mutation_p.S205Y	p.S205Y	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		3	659	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		205			Extracellular (Potential).|Ig-like C2-type 2.		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.614C>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	G	7.254	0.603766	0.14002	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.21734	1.99;1.99;1.99	3.74	3.74	0.42951	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.318389	0.24859	N	0.035021	T	0.06508	0.0167	N	0.19112	0.55	0.22571	N	0.998973	B	0.33448	0.412	B	0.31614	0.133	T	0.19647	-1.0299	10	0.52906	T	0.07	-3.4474	14.832	0.70156	0.0:0.0:1.0:0.0	.	205	Q969P0	IGSF8_HUMAN	Y	205	ENSP00000316664:S205Y;ENSP00000357065:S205Y;ENSP00000397464:S205Y	ENSP00000316664:S205Y	S	-	2	0	IGSF8	158330414	0.006000	0.16342	0.349000	0.25694	0.723000	0.41478	1.404000	0.34623	2.100000	0.63781	0.491000	0.48974	TCT		0.627	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1		NM_052868		42	63	1	0	4.45467e-35	0.011902	4.72927e-35	42	63		
CASQ1	844	broad.mit.edu	37	1	160162631	160162631	+	Missense_Mutation	SNP	G	G	A	rs143532190		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160162631G>A	ENST00000368078.3	+	2	515	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	CASQ1_ENST00000368079.3_Missense_Mutation_p.G101R			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	107					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTTGGCTTCGGGCTGGTAGA	0.512											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		16237	0.0		0.001	False		,,,				2504	0.0					uc010pja.1		NaN																	0				central_nervous_system(1)	1						c.(319-321)GGG>AGG		calsequestrin 1		G	ARG/GLY	0,4406		0,0,2203	124.0	130.0	128.0		319	4.5	1.0	1	dbSNP_134	128	2,8598	2.2+/-6.3	0,2,4298	no	missense	CASQ1	NM_001231.4	125	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	107/397	160162631	2,13004	2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160162631G>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.319G>A	1.37:g.160162631G>A	ENSP00000357057:p.Gly107Arg		OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1806		p.G107R	NM_001231	NP_001222	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	576	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		107					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.319G>A	CCDS1198.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.92	3.724681	0.68959	0.0	2.33E-4	ENSG00000143318	ENST00000368079;ENST00000368078	T;T	0.46063	0.88;0.88	4.54	4.54	0.55810	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	M	0.83483	2.645	0.80722	D	1	P	0.48834	0.916	B	0.39805	0.31	T	0.52117	-0.8618	10	0.51188	T	0.08	.	16.2739	0.82634	0.0:0.0:1.0:0.0	.	107	P31415	CASQ1_HUMAN	R	101;107	ENSP00000357058:G101R;ENSP00000357057:G107R	ENSP00000357057:G107R	G	+	1	0	CASQ1	158429255	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	8.990000	0.93510	2.358000	0.79984	0.449000	0.29647	GGG		0.512	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1		NM_001231		36	281	0	0	0	0.004289	0	36	281		
CASQ1	844	broad.mit.edu	37	1	160163575	160163575	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160163575G>C	ENST00000368078.3	+	3	599	c.403G>C	c.(403-405)Gat>Cat	p.D135H	CASQ1_ENST00000368079.3_Missense_Mutation_p.D129H			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	135					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTCAAGGGAGATGAAGTCAT	0.532																																						uc010pja.1		NaN																	0				central_nervous_system(1)	1						c.(403-405)GAT>CAT		calsequestrin 1							265.0	218.0	234.0					1																	160163575		2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160163575G>C	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.403G>C	1.37:g.160163575G>C	ENSP00000357057:p.Asp135His						p.D135H	NM_001231	NP_001222	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	660	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		135					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.403G>C	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178861	0.78564	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	T;T	0.40476	1.03;1.03	4.01	4.01	0.46588	Thioredoxin-like fold (2);	0.055265	0.64402	D	0.000001	T	0.45074	0.1324	M	0.77313	2.365	0.58432	D	0.999997	P	0.47962	0.903	P	0.48738	0.588	T	0.55952	-0.8059	10	0.72032	D	0.01	.	15.4629	0.75373	0.0:0.0:1.0:0.0	.	135	P31415	CASQ1_HUMAN	H	129;135;50	ENSP00000357058:D129H;ENSP00000357057:D135H	ENSP00000357057:D135H	D	+	1	0	CASQ1	158430199	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.934000	0.92915	2.245000	0.73994	0.456000	0.33151	GAT		0.532	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1		NM_001231		17	82	0	0	0	0.010504	0	17	82		
COPA	1314	broad.mit.edu	37	1	160261692	160261692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160261692C>T	ENST00000241704.7	-	30	3404	c.3175G>A	c.(3175-3177)Gag>Aag	p.E1059K	COPA_ENST00000368069.3_Missense_Mutation_p.E1068K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1059					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAATGTACTCACGGCAAATG	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009wti.2		NaN																	0				ovary(1)|skin(1)	2						c.(3175-3177)GAG>AAG		coatomer protein complex, subunit alpha isoform							202.0	203.0	203.0					1																	160261692		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160261692C>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3175G>A	1.37:g.160261692C>T	ENSP00000241704:p.Glu1059Lys		OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_uc001fvv.3_Missense_Mutation_p.E1068K	p.E1059K	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		30	3569	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1059					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.3175G>A	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	36	5.783166	0.96937	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60040	0.22;0.22	6.17	6.17	0.99709	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81912	0.4923	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.85428	0.1147	10	0.87932	D	0	-30.1211	19.4432	0.94831	0.0:1.0:0.0:0.0	.	1059;1068	P53621;P53621-2	COPA_HUMAN;.	K	1068;1059	ENSP00000357048:E1068K;ENSP00000241704:E1059K	ENSP00000241704:E1059K	E	-	1	0	COPA	158528316	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.604000	0.82830	2.941000	0.99782	0.655000	0.94253	GAG		0.522	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1		NM_004371		367	115	0	0	0	0.01441	0	367	115		
CD48	962	broad.mit.edu	37	1	160681499	160681499	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160681499G>A	ENST00000368046.3	-	1	142	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	CD48_ENST00000368045.3_Silent_p.L19L	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	19					blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGGAGTGACAGAGGCAGCAGT	0.532																																						uc001fwn.2		NaN																	0					0						c.(55-57)CTG>TTG		CD48 molecule precursor							113.0	91.0	99.0					1																	160681499		2203	4300	6503	SO:0001819	synonymous_variant	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160681499G>A	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.55C>T	1.37:g.160681499G>A						CD48_uc001fwo.1_Silent_p.L19L|CD48_uc001fwp.2_Silent_p.L19L	p.L19L	NM_001778	NP_001769	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	87	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		19					Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	c.55C>T	CCDS1208.1																																																																																				0.532	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1		NM_001778		52	14	0	0	0	0.01441	0	52	14		
MPZ	4359	broad.mit.edu	37	1	161277071	161277071	+	Missense_Mutation	SNP	C	C	T	rs573007540		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161277071C>T	ENST00000533357.1	-	2	277	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	MPZ_ENST00000526189.1_5'Flank|MPZ_ENST00000360451.6_Missense_Mutation_p.E81K|MPZ_ENST00000336559.4_Missense_Mutation_p.E71K|MPZ_ENST00000491222.2_5'UTR	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	71	Ig-like V-type.				cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGCCCCCTTCGGGCTGGTAG	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18421	0.0		0.0	False		,,,				2504	0.0					uc001gaf.3		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4	GRCh37	CM013585	MPZ	M		c.(241-243)GAA>AAA		myelin protein zero							49.0	44.0	45.0					1																	161277071		2203	4300	6503	SO:0001583	missense	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161277071C>T	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.211G>A	1.37:g.161277071C>T	ENSP00000432943:p.Glu71Lys					MPZ_uc010pko.1_RNA	p.E81K	NM_000530	NP_000521	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	278	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	71			Ig-like V-type.|Extracellular (Potential).		Q16072|Q5VTH4|Q92677|Q9BR67	Missense_Mutation	SNP	ENST00000533357.1	37	c.241G>A	CCDS1229.2	.	.	.	.	.	.	.	.	.	.	C	31	5.060948	0.93846	.	.	ENSG00000158887	ENST00000533357;ENST00000360451;ENST00000336559	T;T;T	0.64618	-0.11;-0.11;-0.11	5.15	5.15	0.70609	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.061583	0.64402	D	0.000006	T	0.44052	0.1275	L	0.33137	0.985	0.34831	D	0.739738	D	0.64830	0.994	P	0.46940	0.532	T	0.37103	-0.9720	9	0.23302	T	0.38	-15.4866	16.1122	0.81271	0.0:1.0:0.0:0.0	.	71	P25189	MYP0_HUMAN	K	71;81;71	ENSP00000432943:E71K;ENSP00000353634:E81K;ENSP00000337777:E71K	ENSP00000337777:E71K	E	-	1	0	MPZ	159543695	1.000000	0.71417	0.946000	0.38457	0.864000	0.49448	6.767000	0.74975	2.396000	0.81511	0.462000	0.41574	GAA		0.552	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2		NM_000530		4	67	0	0	0	0.001168	0	4	67		
FCGR2B	2213	broad.mit.edu	37	1	161641245	161641245	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161641245C>G	ENST00000358671.5	+	3	278	c.197C>G	c.(196-198)tCt>tGt	p.S66C	FCGR2B_ENST00000367962.4_Missense_Mutation_p.S66C|FCGR2B_ENST00000367960.5_Missense_Mutation_p.S59C|FCGR2B_ENST00000403078.3_Missense_Mutation_p.S66C|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Missense_Mutation_p.S59C|FCGR2B_ENST00000236937.9_Missense_Mutation_p.S66C|FCGR2B_ENST00000428605.2_Missense_Mutation_p.S66C	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	66	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAGGACTCTGTGACTCTG	0.587			T	?	ALL																																	uc001gaz.1		NaN		Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	NaN		ALL		0					0						c.(196-198)TCT>TGT		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						101.0	103.0	103.0					1																	161641245		2203	4300	6503	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161641245C>G	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.197C>G	1.37:g.161641245C>G	ENSP00000351497:p.Ser66Cys					FCGR2B_uc009wum.1_Missense_Mutation_p.S66C|FCGR2B_uc001gay.1_Missense_Mutation_p.S65C|FCGR2B_uc001gba.1_Missense_Mutation_p.S65C|FCGR2B_uc001gbb.1_Missense_Mutation_p.S66C|FCGR2B_uc009wun.1_Missense_Mutation_p.S59C	p.S66C	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	289	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		66			Ig-like C2-type 1.|Extracellular (Potential).		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.197C>G	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236399	0.39498	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58	4.53	-6.97	0.01616	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	6.816470	0.00166	N	0.000000	T	0.17450	0.0419	M	0.85462	2.755	0.09310	N	1	D;D;D;D;P;B	0.76494	0.998;0.999;0.997;0.997;0.645;0.372	P;P;P;P;B;B	0.61003	0.835;0.882;0.835;0.87;0.13;0.139	T	0.36407	-0.9749	10	0.59425	D	0.04	.	7.4667	0.27326	0.2748:0.4562:0.269:0.0	.	59;66;66;66;66;66	P31994-3;P31995-4;P31994-2;P31995-2;P31994;P31995-3	.;.;.;.;FCG2B_HUMAN;.	C	66;59;66;66;66;59;66;65	ENSP00000356939:S66C;ENSP00000356937:S59C;ENSP00000386038:S66C;ENSP00000404329:S66C;ENSP00000236937:S66C;ENSP00000356938:S59C;ENSP00000351497:S66C	ENSP00000236937:S66C	S	+	2	0	FCGR2B	159907869	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.174000	0.00571	-1.489000	0.01844	-0.521000	0.04368	TCT		0.587	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4		NM_004001		18	99	0	0	0	0.006122	0	18	99		
FCGR2B	2213	broad.mit.edu	37	1	161641318	161641318	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161641318C>G	ENST00000358671.5	+	3	351	c.270C>G	c.(268-270)ctC>ctG	p.L90L	FCGR2B_ENST00000367962.4_Silent_p.L90L|FCGR2B_ENST00000367960.5_Silent_p.L83L|FCGR2B_ENST00000403078.3_Silent_p.L90L|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Silent_p.L83L|FCGR2B_ENST00000236937.9_Silent_p.L90L|FCGR2B_ENST00000428605.2_Silent_p.L90L	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	90	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGAATCTCATTCCCACCC	0.587			T	?	ALL																																	uc001gaz.1		NaN		Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	NaN		ALL		0					0						c.(268-270)CTC>CTG		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						80.0	82.0	81.0					1																	161641318		2203	4298	6501	SO:0001819	synonymous_variant	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161641318C>G	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.270C>G	1.37:g.161641318C>G						FCGR2B_uc009wum.1_Silent_p.L90L|FCGR2B_uc001gay.1_Silent_p.L89L|FCGR2B_uc001gba.1_Silent_p.L89L|FCGR2B_uc001gbb.1_Silent_p.L90L|FCGR2B_uc009wun.1_Silent_p.L83L	p.L90L	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	362	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		90			Ig-like C2-type 1.|Extracellular (Potential).		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Silent	SNP	ENST00000358671.5	37	c.270C>G	CCDS30924.1																																																																																				0.587	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4		NM_004001		15	87	0	0	0	0.00499	0	15	87		
FCGR2B	2213	broad.mit.edu	37	1	161641408	161641408	+	Silent	SNP	C	C	T	rs367584808	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161641408C>T	ENST00000358671.5	+	3	441	c.360C>T	c.(358-360)ctC>ctT	p.L120L	FCGR2B_ENST00000367962.4_Silent_p.L120L|FCGR2B_ENST00000367960.5_Silent_p.L113L|FCGR2B_ENST00000403078.3_Silent_p.L120L|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Silent_p.L113L|FCGR2B_ENST00000236937.9_Silent_p.L120L|FCGR2B_ENST00000428605.2_Silent_p.L120L	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	120	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGACCAGCCTCAGCGACCCTG	0.592			T	?	ALL																																	uc001gaz.1		NaN		Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	NaN		ALL		0					0						c.(358-360)CTC>CTT		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						28.0	31.0	30.0					1																	161641408		2203	4294	6497	SO:0001819	synonymous_variant	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161641408C>T	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.360C>T	1.37:g.161641408C>T						FCGR2B_uc009wum.1_Silent_p.L120L|FCGR2B_uc001gay.1_Silent_p.L119L|FCGR2B_uc001gba.1_Silent_p.L119L|FCGR2B_uc001gbb.1_Silent_p.L120L|FCGR2B_uc009wun.1_Silent_p.L113L	p.L120L	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	452	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		120			Ig-like C2-type 1.|Extracellular (Potential).		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Silent	SNP	ENST00000358671.5	37	c.360C>T	CCDS30924.1																																																																																				0.592	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4		NM_004001		11	54	0	0	0	0.013537	0	11	54		
FCRLB	127943	broad.mit.edu	37	1	161695648	161695648	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161695648C>T	ENST00000367948.2	+	6	560	c.345C>T	c.(343-345)ttC>ttT	p.F115F	FCRLB_ENST00000367944.3_Silent_p.F108F|FCRLB_ENST00000367946.3_Silent_p.F115F|FCRLB_ENST00000392158.1_Silent_p.F115F|FCRLB_ENST00000367945.1_Silent_p.F108F|FCRLB_ENST00000336830.5_Silent_p.F115F			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	115	Ig-like C2-type 2.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CGCCAGTGTTCGAGGGTGAGC	0.592																																						uc001gbh.2		NaN																	0					0						c.(343-345)TTC>TTT		Fc receptor-like B							91.0	86.0	88.0					1																	161695648		2203	4300	6503	SO:0001819	synonymous_variant	127943					endoplasmic reticulum		g.chr1:161695648C>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.345C>T	1.37:g.161695648C>T						FCRLB_uc009wus.2_Silent_p.F115F|FCRLB_uc001gbj.2_Silent_p.F115F|FCRLB_uc001gbk.2_Silent_p.F115F|FCRLB_uc001gbl.2_Silent_p.F108F|FCRLB_uc001gbm.2_Silent_p.F108F|FCRLB_uc001gbi.2_Silent_p.F115F|FCRLB_uc001gbn.3_5'Flank	p.F115F	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		6	579	+	all_hematologic(112;0.0359)		115			Ig-like C2-type 2.		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Silent	SNP	ENST00000367948.2	37	c.345C>T	CCDS30927.1																																																																																				0.592	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1		NM_152378		4	52	0	0	0	0.001984	0	4	52		
FCRLB	127943	broad.mit.edu	37	1	161696695	161696695	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161696695C>T	ENST00000367948.2	+	7	992	c.777C>T	c.(775-777)gtC>gtT	p.V259V	FCRLB_ENST00000367944.3_Nonsense_Mutation_p.R218*|FCRLB_ENST00000367946.3_Missense_Mutation_p.S211L|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Silent_p.V259V|FCRLB_ENST00000367945.1_Missense_Mutation_p.S204L|FCRLB_ENST00000336830.5_Nonsense_Mutation_p.R225*			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	259					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			AGCCCGAGGTCGAGGAGCTCG	0.687																																						uc001gbh.2		NaN																	0					0						c.(775-777)GTC>GTT		Fc receptor-like B							12.0	13.0	13.0					1																	161696695		2195	4291	6486	SO:0001819	synonymous_variant	127943					endoplasmic reticulum		g.chr1:161696695C>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.777C>T	1.37:g.161696695C>T						FCRLB_uc009wus.2_Silent_p.V259V|FCRLB_uc001gbj.2_Missense_Mutation_p.S211L|FCRLB_uc001gbk.2_Nonsense_Mutation_p.R225*|FCRLB_uc001gbl.2_Missense_Mutation_p.S204L|FCRLB_uc001gbm.2_Nonsense_Mutation_p.R218*|FCRLB_uc001gbi.2_Silent_p.V259V|FCRLB_uc001gbn.3_Nonsense_Mutation_p.R262*	p.V259V	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		7	1011	+	all_hematologic(112;0.0359)		259					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Silent	SNP	ENST00000367948.2	37	c.777C>T	CCDS30927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.18|16.18	3.051120|3.051120	0.55218|0.55218	.|.	.|.	ENSG00000162746|ENSG00000162746	ENST00000336830;ENST00000367944|ENST00000367946;ENST00000367945	.|T;T	.|0.01838	.|4.61;4.61	4.33|4.33	-0.00307|-0.00307	0.14027|0.14027	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00384	.|0.0012	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;B	.|0.11235	.|0.004;0.004	.|B;B	.|0.06405	.|0.002;0.002	.|T	.|0.38265	.|-0.9669	.|8	0.14656|0.11794	T|T	0.56|0.64	.|.	0.7606|0.7606	0.01006|0.01006	0.1979:0.3926:0.1924:0.2172|0.1979:0.3926:0.1924:0.2172	.|.	.|204;211	.|Q6BAA4-5;Q6BAA4-4	.|.;.	X|L	225;218|211;204	.|ENSP00000356923:S211L;ENSP00000356922:S204L	ENSP00000338598:R225X|ENSP00000356922:S204L	R|S	+|+	1|2	2|0	FCRLB|FCRLB	159963319|159963319	0.471000|0.471000	0.25862|0.25862	0.956000|0.956000	0.39512|0.39512	0.103000|0.103000	0.19146|0.19146	0.047000|0.047000	0.14056|0.14056	0.807000|0.807000	0.34208|0.34208	0.484000|0.484000	0.47621|0.47621	CGA|TCG		0.687	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1		NM_152378		11	3	0	0	0	0.004007	0	11	3		
BLZF1	8548	broad.mit.edu	37	1	169351514	169351514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:169351514G>T	ENST00000367808.3	+	6	1435	c.1012G>T	c.(1012-1014)Gaa>Taa	p.E338*	BLZF1_ENST00000329281.2_Nonsense_Mutation_p.E338*			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	338					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GAAAATGGCTGAAACGGTAAA	0.363																																						uc001gfx.1		NaN																	0				skin(1)	1						c.(1012-1014)GAA>TAA		basic leucine zipper nuclear factor 1							43.0	44.0	44.0					1																	169351514		2203	4300	6503	SO:0001587	stop_gained	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169351514G>T	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.1012G>T	1.37:g.169351514G>T	ENSP00000356782:p.Glu338*					BLZF1_uc001gfy.2_Nonsense_Mutation_p.E338*|BLZF1_uc009wvp.1_Intron	p.E338*	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN			6	1449	+	all_hematologic(923;0.208)		338					O15298|Q5T531|Q5T533|Q9GZX4	Nonsense_Mutation	SNP	ENST00000367808.3	37	c.1012G>T	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	G	41	9.158209	0.99084	.	.	ENSG00000117475	ENST00000367808;ENST00000329281	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-26.3671	20.081	0.97775	0.0:0.0:1.0:0.0	.	.	.	.	X	338	.	ENSP00000327541:E338X	E	+	1	0	BLZF1	167618138	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.225000	0.95219	2.753000	0.94483	0.555000	0.69702	GAA		0.363	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1		NM_003666		14	50	1	0	4.3838e-07	0.001855	4.5106e-07	14	50		
SELE	6401	broad.mit.edu	37	1	169696928	169696928	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:169696928C>G	ENST00000333360.7	-	9	1559	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	SELE_ENST00000367777.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.E411Q|SELE_ENST00000367775.1_Missense_Mutation_p.E349Q|SELE_ENST00000367779.4_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.E349Q|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.E411Q	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	474	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GATGTGCACTCAAGTTGAGTT	0.448																																						uc001ggm.3		NaN																	0				ovary(3)|skin(2)	5						c.(1420-1422)GAG>CAG		selectin E precursor							134.0	128.0	130.0					1																	169696928		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169696928C>G	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1420G>C	1.37:g.169696928C>G	ENSP00000331736:p.Glu474Gln					C1orf112_uc001ggj.2_Intron	p.E474Q	NM_000450	NP_000441	P16581	LYAM2_HUMAN			9	1577	-	all_hematologic(923;0.208)		474			Extracellular (Potential).|Sushi 5.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1420G>C	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	C	2.983	-0.209874	0.06140	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.9	2.93	0.34026	Complement control module (2);Sushi/SCR/CCP (3);	0.181984	0.26875	N	0.022047	T	0.24084	0.0583	N	0.25426	0.745	0.80722	D	1	B	0.30763	0.294	B	0.34093	0.175	T	0.05402	-1.0887	10	0.15952	T	0.53	-11.1497	5.419	0.16390	0.1376:0.5242:0.2662:0.072	.	474	P16581	LYAM2_HUMAN	Q	411;349;474;349;411	ENSP00000356755:E411Q;ENSP00000356754:E349Q;ENSP00000331736:E474Q;ENSP00000356749:E349Q;ENSP00000356750:E411Q	ENSP00000331736:E474Q	E	-	1	0	SELE	167963552	0.000000	0.05858	0.190000	0.23270	0.889000	0.51656	0.041000	0.13927	0.354000	0.24105	0.650000	0.86243	GAG		0.448	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1		NM_000450		82	65	0	0	0	0.01441	0	82	65		
RC3H1	149041	broad.mit.edu	37	1	173916678	173916678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:173916678G>A	ENST00000367696.2	-	15	2917	c.2566C>T	c.(2566-2568)Cag>Tag	p.Q856*	RC3H1_ENST00000258349.4_Nonsense_Mutation_p.Q856*|RC3H1_ENST00000367694.2_Nonsense_Mutation_p.Q856*			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	856					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCTCTTCTCTGAAGATCTAAT	0.438																																						uc001gju.3		NaN																	0				ovary(2)	2						c.(2566-2568)CAG>TAG		roquin							140.0	141.0	141.0					1																	173916678		2203	4300	6503	SO:0001587	stop_gained	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173916678G>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2566C>T	1.37:g.173916678G>A	ENSP00000356669:p.Gln856*					RC3H1_uc010pms.1_Nonsense_Mutation_p.Q856*|RC3H1_uc001gjv.2_Nonsense_Mutation_p.Q856*|RC3H1_uc010pmt.1_Nonsense_Mutation_p.Q856*	p.Q856*	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			14	2653	-			856					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Nonsense_Mutation	SNP	ENST00000367696.2	37	c.2566C>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	40	8.303493	0.98750	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	.	.	.	5.93	5.93	0.95920	.	0.052090	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.431	20.3495	0.98807	0.0:0.0:1.0:0.0	.	.	.	.	X	856	.	ENSP00000258349:Q856X	Q	-	1	0	RC3H1	172183301	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.476000	0.97823	2.814000	0.96858	0.591000	0.81541	CAG		0.438	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2		NM_172071		42	34	0	0	0	0.010771	0	42	34		
RFWD2	64326	broad.mit.edu	37	1	176012859	176012859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:176012859G>A	ENST00000367669.3	-	13	2031	c.1517C>T	c.(1516-1518)tCa>tTa	p.S506L	RFWD2_ENST00000308769.8_Missense_Mutation_p.S482L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	506					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATAGACCTTTGACCTCTGTCC	0.353																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1		NaN																	0					0						c.(1516-1518)TCA>TTA		ring finger and WD repeat domain 2 isoform a							180.0	183.0	182.0					1																	176012859		2203	4300	6503	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176012859G>A	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1517C>T	1.37:g.176012859G>A	ENSP00000356641:p.Ser506Leu					RFWD2_uc001gkv.1_Missense_Mutation_p.S482L|RFWD2_uc001gkw.1_Missense_Mutation_p.S266L|RFWD2_uc009wwv.2_Missense_Mutation_p.S305L|RFWD2_uc001gkt.1_Missense_Mutation_p.S345L	p.S506L	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			13	1773	-			506			WD 2.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.1517C>T	CCDS30944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.49|12.49	1.954753|1.954753	0.34471|0.34471	.|.	.|.	ENSG00000143207|ENSG00000143207	ENST00000459744|ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	.|T;T;T	.|0.56611	.|0.45;0.45;0.45	5.76|5.76	5.76|5.76	0.90799|0.90799	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.32645	.|0.0836	N|N	0.00656|0.00656	-1.285|-1.285	0.80722|0.80722	D|D	1|1	.|B;P;B;P;P	.|0.51791	.|0.001;0.789;0.005;0.948;0.789	.|B;B;B;P;B	.|0.51866	.|0.006;0.33;0.002;0.682;0.403	.|T	.|0.48854	.|-0.8998	.|10	.|0.09843	.|T	.|0.71	-0.8266|-0.8266	19.5392|19.5392	0.95267|0.95267	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|281;266;482;506;506	.|Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.|.;.;.;RFWD2_HUMAN;.	X|L	226|281;506;341;482	.|ENSP00000356641:S506L;ENSP00000356638:S341L;ENSP00000310943:S482L	.|ENSP00000310943:S482L	Q|S	-|-	1|2	0|0	RFWD2|RFWD2	174279482|174279482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.419000|9.419000	0.97397|0.97397	2.718000|2.718000	0.92993|0.92993	0.563000|0.563000	0.77884|0.77884	CAA|TCA		0.353	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2		NM_022457		75	246	0	0	0	0.01441	0	75	246		
SOAT1	6646	broad.mit.edu	37	1	179320459	179320459	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:179320459C>G	ENST00000367619.3	+	15	1601	c.1458C>G	c.(1456-1458)ttC>ttG	p.F486L	SOAT1_ENST00000539888.1_Missense_Mutation_p.F421L|SOAT1_ENST00000535686.1_Missense_Mutation_p.F222L|SOAT1_ENST00000540564.1_Missense_Mutation_p.F428L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	486					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TAGTGGCTTTCAACTTCATTG	0.408																																						uc001gml.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1456-1458)TTC>TTG		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						181.0	176.0	178.0					1																	179320459		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179320459C>G	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1458C>G	1.37:g.179320459C>G	ENSP00000356591:p.Phe486Leu					SOAT1_uc010pni.1_Missense_Mutation_p.F421L|SOAT1_uc001gmm.2_Missense_Mutation_p.F428L|SOAT1_uc010pnj.1_Missense_Mutation_p.F222L|SOAT1_uc010pnk.1_Missense_Mutation_p.F421L	p.F486L	NM_003101	NP_003092	P35610	SOAT1_HUMAN			15	1521	+			486			Helical; (Potential).		A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.1458C>G	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	C	8.788	0.929802	0.18131	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.78	2.86	0.33363	.	0.042869	0.85682	N	0.000000	T	0.48624	0.1510	N	0.20304	0.555	0.53688	D	0.999976	B;B	0.34241	0.444;0.309	B;B	0.43018	0.405;0.139	T	0.32161	-0.9917	10	0.08179	T	0.78	-22.4075	4.2733	0.10797	0.1602:0.5882:0.0:0.2516	.	428;486	A8K3P4;P35610	.;SOAT1_HUMAN	L	421;428;222;486	ENSP00000441356:F421L;ENSP00000445315:F428L;ENSP00000442503:F222L;ENSP00000356591:F486L	ENSP00000356591:F486L	F	+	3	2	SOAT1	177587082	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	0.848000	0.27710	0.340000	0.23745	0.563000	0.77884	TTC		0.408	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2		NM_003101		57	169	0	0	0	0.01441	0	57	169		
AXDND1	126859	broad.mit.edu	37	1	179339182	179339182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:179339182G>A	ENST00000367618.3	+	4	730	c.343G>A	c.(343-345)Gac>Aac	p.D115N	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.D115N	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	115										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATACCTGATTGACCATCCCGT	0.413																																						uc001gmo.2		NaN																	0					0						c.(343-345)GAC>AAC		hypothetical protein LOC126859 isoform 1							70.0	62.0	64.0					1																	179339182		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179339182G>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.343G>A	1.37:g.179339182G>A	ENSP00000356590:p.Asp115Asn					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_5'UTR|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.D115N	p.D115N	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			4	470	+			115					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.343G>A	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062467	0.76187	.	.	ENSG00000162779	ENST00000509175;ENST00000367618;ENST00000360322;ENST00000507383;ENST00000457238;ENST00000508285;ENST00000511889;ENST00000434088	T;T;T	0.54279	1.84;0.58;1.92	5.39	4.48	0.54585	.	0.061135	0.64402	D	0.000005	T	0.61565	0.2357	L	0.43152	1.355	0.30126	N	0.805253	D;D	0.89917	0.989;1.0	P;D	0.87578	0.892;0.998	T	0.59669	-0.7411	10	0.40728	T	0.16	-4.0191	9.8293	0.40932	0.0948:0.0:0.9052:0.0	.	73;115	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	N	73;115;73;73;115;115;73;49	ENSP00000356590:D115N;ENSP00000416712:D115N;ENSP00000391716:D49N	ENSP00000353471:D73N	D	+	1	0	AXDND1	177605805	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.946000	0.56644	1.267000	0.44247	0.453000	0.30009	GAC		0.413	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1		NM_144696		9	31	0	0	0	0.008291	0	9	31		
TDRD5	163589	broad.mit.edu	37	1	179609578	179609578	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:179609578G>C	ENST00000367614.1	+	11	2157	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	TDRD5_ENST00000444136.1_Missense_Mutation_p.E600Q|TDRD5_ENST00000294848.8_Missense_Mutation_p.E600Q	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	600					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGACCAGTAGAGGTATGTTT	0.408																																						uc001gnf.1		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1798-1800)GAG>CAG		tudor domain containing 5							186.0	151.0	163.0					1																	179609578		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179609578G>C	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1798G>C	1.37:g.179609578G>C	ENSP00000356586:p.Glu600Gln					TDRD5_uc010pnp.1_Missense_Mutation_p.E600Q|TDRD5_uc001gnh.1_Missense_Mutation_p.E155Q	p.E600Q	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			11	2048	+			600					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1798G>C	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978154	0.34942	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.33438	2.59;2.59;2.76;1.41	5.82	0.855	0.19013	.	0.434585	0.24889	N	0.034781	T	0.26846	0.0657	L	0.59436	1.845	0.26014	N	0.981958	P;B	0.36010	0.532;0.232	B;B	0.37304	0.246;0.091	T	0.11591	-1.0581	10	0.31617	T	0.26	-10.4851	8.1462	0.31113	0.3991:0.0:0.6009:0.0	.	600;600	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	Q	600;600;600;56	ENSP00000356586:E600Q;ENSP00000294848:E600Q;ENSP00000406052:E600Q;ENSP00000410744:E56Q	ENSP00000294848:E600Q	E	+	1	0	TDRD5	177876201	0.467000	0.25831	0.218000	0.23776	0.977000	0.68977	0.459000	0.21908	0.112000	0.17975	-0.137000	0.14449	GAG		0.408	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1		NM_173533		19	89	0	0	0	0.012319	0	19	89		
CEP350	9857	broad.mit.edu	37	1	180080149	180080149	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:180080149G>A	ENST00000367607.3	+	38	9625	c.9207G>A	c.(9205-9207)gaG>gaA	p.E3069E	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3069					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCTCCATGAGGAGGAGGCAC	0.413																																						uc001gnt.2		NaN																	0				ovary(4)	4						c.(9205-9207)GAG>GAA		centrosome-associated protein 350							120.0	111.0	114.0					1																	180080149		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180080149G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.9207G>A	1.37:g.180080149G>A						CEP350_uc009wxl.2_Silent_p.E3068E|CEP350_uc001gnv.2_Silent_p.E1204E|CEP350_uc001gnw.1_Silent_p.E826E|CEP350_uc001gnx.1_Silent_p.E826E	p.E3069E	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			38	9590	+			3069					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.9207G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	4.895	0.166352	0.09339	.	.	ENSG00000135837	ENST00000429851	.	.	.	6.05	-3.5	0.04710	.	.	.	.	.	T	0.62792	0.2457	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59632	-0.7418	4	.	.	.	.	13.4209	0.60996	0.5558:0.0:0.4442:0.0	.	.	.	.	R	1244	.	.	G	+	1	0	CEP350	178346772	0.875000	0.30112	0.510000	0.27712	0.995000	0.86356	-0.014000	0.12656	-1.078000	0.03117	0.650000	0.86243	GGA		0.413	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		17	59	0	0	0	0.007413	0	17	59		
RGS16	6004	broad.mit.edu	37	1	182571103	182571103	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:182571103C>T	ENST00000367558.5	-	4	533	c.385G>A	c.(385-387)Gag>Aag	p.E129K		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	129	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GCTCTAACCTCTTTAGGGGCC	0.567											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gpl.3		NaN																	0				ovary(1)	1						c.(385-387)GAG>AAG		regulator of G-protein signalling 16							87.0	93.0	91.0					1																	182571103		2203	4300	6503	SO:0001583	missense	6004				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:182571103C>T	U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"""Regulators of G-protein signaling"""	9997	protein-coding gene	gene with protein product		602514	"""regulator of G-protein signalling 16"""			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.385G>A	1.37:g.182571103C>T	ENSP00000356529:p.Glu129Lys		OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1977	RGS16_uc010pnv.1_Missense_Mutation_p.E129K	p.E129K	NM_002928	NP_002919	O15492	RGS16_HUMAN			4	539	-			129			RGS.		B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	c.385G>A	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160791	0.94727	.	.	ENSG00000143333	ENST00000367558	T	0.02369	4.32	5.4	5.4	0.78164	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.983	T	0.04840	-1.0923	10	0.87932	D	0	.	18.7685	0.91882	0.0:1.0:0.0:0.0	.	129;129	B4DVW5;O15492	.;RGS16_HUMAN	K	129	ENSP00000356529:E129K	ENSP00000356529:E129K	E	-	1	0	RGS16	180837726	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.556000	0.82233	2.525000	0.85131	0.563000	0.77884	GAG		0.567	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1		NM_002928		39	43	0	0	0	0.005524	0	39	43		
DHX9	1660	broad.mit.edu	37	1	182845653	182845653	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:182845653C>T	ENST00000367549.3	+	18	2211	c.2101C>T	c.(2101-2103)Cca>Tca	p.P701S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	701	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGTGTTTGATCCAGTACCAGT	0.403																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2		NaN																	0				ovary(2)	2						c.(2101-2103)CCA>TCA		DEAH (Asp-Glu-Ala-His) box polypeptide 9							80.0	70.0	73.0					1																	182845653		1853	4092	5945	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182845653C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2101C>T	1.37:g.182845653C>T	ENSP00000356520:p.Pro701Ser					DHX9_uc001gps.2_Missense_Mutation_p.P487S|DHX9_uc001gpt.2_5'Flank	p.P701S	NM_001357	NP_001348	Q08211	DHX9_HUMAN			18	2264	+			701			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.2101C>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304118	0.40795	.	.	ENSG00000135829	ENST00000367549	T	0.74002	-0.8	5.41	4.48	0.54585	Helicase, C-terminal (3);	0.118223	0.56097	D	0.000028	T	0.65228	0.2671	L	0.43701	1.375	0.58432	D	0.999997	B	0.18013	0.025	B	0.21360	0.034	T	0.58612	-0.7606	10	0.17832	T	0.49	.	13.5835	0.61917	0.0:0.9238:0.0:0.0762	.	701	Q08211	DHX9_HUMAN	S	701	ENSP00000356520:P701S	ENSP00000356520:P701S	P	+	1	0	DHX9	181112276	1.000000	0.71417	0.989000	0.46669	0.981000	0.71138	4.128000	0.57951	2.682000	0.91365	0.491000	0.48974	CCA		0.403	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2		NM_030588		28	38	0	0	0	0.00632	0	28	38		
SWT1	54823	broad.mit.edu	37	1	185171807	185171807	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:185171807C>G	ENST00000367500.4	+	11	1710	c.1545C>G	c.(1543-1545)aaC>aaG	p.N515K	SWT1_ENST00000367501.3_Missense_Mutation_p.N515K	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	515	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ACTTAAGAAACAAAGGCCTAA	0.368																																						uc001grg.3		NaN																	0					0						c.(1543-1545)AAC>AAG		hypothetical protein LOC54823							81.0	80.0	80.0					1																	185171807		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185171807C>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1545C>G	1.37:g.185171807C>G	ENSP00000356470:p.Asn515Lys					C1orf26_uc001grh.3_Missense_Mutation_p.N515K	p.N515K	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			11	1659	+			515			PINc.		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1545C>G	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489120	0.64074	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19806	2.12;2.12	5.29	2.99	0.34606	Nucleotide binding protein, PINc (1);	0.233514	0.50627	D	0.000119	T	0.30541	0.0768	M	0.72894	2.215	0.30913	N	0.728845	P	0.50819	0.939	P	0.51324	0.666	T	0.29243	-1.0018	10	0.56958	D	0.05	.	7.458	0.27278	0.0:0.7393:0.0:0.2607	.	515	Q5T5J6	SWT1_HUMAN	K	515	ENSP00000356471:N515K;ENSP00000356470:N515K	ENSP00000356470:N515K	N	+	3	2	SWT1	183438430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.905000	0.28504	1.332000	0.45431	0.655000	0.94253	AAC		0.368	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1		NM_017673		28	56	0	0	0	0.005443	0	28	56		
IVNS1ABP	10625	broad.mit.edu	37	1	185276692	185276692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:185276692C>T	ENST00000367498.3	-	6	1082	c.460G>A	c.(460-462)Gat>Aat	p.D154N	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	154	BACK.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ATATAAGCATCAACCTTATTC	0.368																																						uc001grl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(460-462)GAT>AAT		influenza virus NS1A binding protein							73.0	75.0	74.0					1																	185276692		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185276692C>T	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.460G>A	1.37:g.185276692C>T	ENSP00000356468:p.Asp154Asn					IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA	p.D154N	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			6	1083	-			154			BACK.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.460G>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123203	0.77436	.	.	ENSG00000116679	ENST00000367498;ENST00000422754	T;T	0.68903	-0.36;-0.36	5.61	4.68	0.58851	BTB/Kelch-associated (2);	0.092733	0.64402	D	0.000001	T	0.70133	0.3189	L	0.58428	1.81	0.80722	D	1	P	0.45634	0.863	P	0.48063	0.565	T	0.71945	-0.4439	10	0.48119	T	0.1	.	15.7303	0.77794	0.1377:0.8623:0.0:0.0	.	154	Q9Y6Y0	NS1BP_HUMAN	N	154;35	ENSP00000356468:D154N;ENSP00000401826:D35N	ENSP00000356468:D154N	D	-	1	0	IVNS1ABP	183543315	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	7.650000	0.83521	1.328000	0.45358	0.591000	0.81541	GAT		0.368	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1		NM_006469		34	39	0	0	0	0.010818	0	34	39		
HMCN1	83872	broad.mit.edu	37	1	185703957	185703957	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:185703957C>G	ENST00000271588.4	+	1	275	c.46C>G	c.(46-48)Ctt>Gtt	p.L16V	HMCN1_ENST00000367492.2_Missense_Mutation_p.L16V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	16					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTTTGCTCTTCTTTATTCTTC	0.488																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(46-48)CTT>GTT		hemicentin 1 precursor							137.0	150.0	146.0					1																	185703957		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185703957C>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.46C>G	1.37:g.185703957C>G	ENSP00000271588:p.Leu16Val						p.L16V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			1	275	+			16					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.46C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165102	0.21538	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65732	-0.16;-0.17	5.03	2.07	0.26955	.	0.656995	0.13786	N	0.362863	T	0.37404	0.1002	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21895	-1.0232	10	0.46703	T	0.11	.	1.0422	0.01561	0.1608:0.4198:0.1561:0.2633	.	16	Q96RW7	HMCN1_HUMAN	V	16	ENSP00000271588:L16V;ENSP00000356462:L16V	ENSP00000271588:L16V	L	+	1	0	HMCN1	183970580	0.064000	0.20934	0.004000	0.12327	0.846000	0.48090	0.160000	0.16462	0.265000	0.21872	0.650000	0.86243	CTT		0.488	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		106	108	0	0	0	0.01441	0	106	108		
PLA2G4A	5321	broad.mit.edu	37	1	186946811	186946811	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:186946811G>T	ENST00000367466.3	+	16	2003	c.1851G>T	c.(1849-1851)ctG>ctT	p.L617L	PLA2G4A_ENST00000442353.2_Silent_p.L557L	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	617	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GGGAAGGGCTGAAGGAGTGCT	0.423																																						uc001gsc.2		NaN																	0				lung(2)|breast(1)	3						c.(1849-1851)CTG>CTT		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						129.0	117.0	121.0					1																	186946811		2203	4300	6503	SO:0001819	synonymous_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186946811G>T	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1851G>T	1.37:g.186946811G>T						PLA2G4A_uc010pos.1_Silent_p.L557L	p.L617L	NM_024420	NP_077734	P47712	PA24A_HUMAN			16	2056	+			617			PLA2c.		B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	c.1851G>T	CCDS1372.1																																																																																				0.423	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1		NM_024420		27	81	1	0	1.77063e-15	0.005443	1.86247e-15	27	81		
KCNT2	343450	broad.mit.edu	37	1	196342316	196342316	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:196342316C>T	ENST00000294725.9	-	14	2272	c.1357G>A	c.(1357-1359)Gca>Aca	p.A453T	KCNT2_ENST00000367433.5_Missense_Mutation_p.A453T|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.A453T|KCNT2_ENST00000451324.2_Missense_Mutation_p.A64T|KCNT2_ENST00000609185.1_Missense_Mutation_p.A453T			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	453	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTAGATGTTGCTGGGCATATA	0.284																																						uc001gtd.1		NaN																	0				ovary(5)|breast(1)|skin(1)	7						c.(1357-1359)GCA>ACA		potassium channel, subfamily T, member 2							94.0	95.0	95.0					1																	196342316		2203	4291	6494	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196342316C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1357G>A	1.37:g.196342316C>T	ENSP00000294725:p.Ala453Thr					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.A453T|KCNT2_uc001gtf.1_Missense_Mutation_p.A453T|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.A453T|KCNT2_uc009wyv.1_Missense_Mutation_p.A428T	p.A453T	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			14	1417	-			453			Cytoplasmic (Potential).|RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1357G>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212724	0.95069	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.74	5.74	0.90152	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000005	T	0.64746	0.2626	M	0.68317	2.08	0.53688	D	0.999974	D;D;B;D	0.65815	0.992;0.995;0.277;0.992	D;D;P;D	0.73708	0.981;0.939;0.614;0.981	T	0.65894	-0.6057	10	0.87932	D	0	-18.4209	18.4944	0.90860	0.0:1.0:0.0:0.0	.	453;453;453;453	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	T	453;453;274;64;453	ENSP00000356403:A453T;ENSP00000356401:A453T;ENSP00000405474:A64T;ENSP00000294725:A453T	ENSP00000294725:A453T	A	-	1	0	KCNT2	194608939	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.106000	0.77039	2.728000	0.93425	0.650000	0.86243	GCA		0.284	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2		NM_198503		31	103	0	0	0	0.010818	0	31	103		
ZBTB41	360023	broad.mit.edu	37	1	197145778	197145778	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:197145778C>T	ENST00000367405.4	-	7	1863	c.1795G>A	c.(1795-1797)Gat>Aat	p.D599N	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTTTTATCATCATGATGTACT	0.303																																						uc001gtx.1		NaN																	0				ovary(1)|skin(1)	2						c.(1795-1797)GAT>AAT		zinc finger and BTB domain containing 41							146.0	139.0	141.0					1																	197145778		2202	4297	6499	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197145778C>T		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1795G>A	1.37:g.197145778C>T	ENSP00000356375:p.Asp599Asn					ZBTB41_uc009wyz.1_RNA	p.D599N	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			7	1864	-			599					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.1795G>A	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118476	0.94385	.	.	ENSG00000177888	ENST00000367405	T	0.16457	2.34	6.08	6.08	0.98989	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000414	T	0.34019	0.0883	L	0.31752	0.955	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.02121	-1.1210	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	599	Q5SVQ8	ZBT41_HUMAN	N	599	ENSP00000356375:D599N	ENSP00000356375:D599N	D	-	1	0	ZBTB41	195412401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.550000	0.67268	2.894000	0.99253	0.591000	0.81541	GAT		0.303	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2		NM_194314		59	71	0	0	0	0.01441	0	59	71		
NEK7	140609	broad.mit.edu	37	1	198288556	198288556	+	Silent	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:198288556T>G	ENST00000367385.4	+	10	1155	c.813T>G	c.(811-813)gtT>gtG	p.V271V	NEK7_ENST00000538004.1_Silent_p.V271V	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						GACAGTTAGTTAATATGTGCA	0.383																																						uc001gun.3		NaN																	0				stomach(2)|lung(1)|ovary(1)	4						c.(811-813)GTT>GTG		NIMA-related kinase 7							97.0	89.0	92.0					1																	198288556		2203	4300	6503	SO:0001819	synonymous_variant	140609					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:198288556T>G	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.813T>G	1.37:g.198288556T>G							p.V271V	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN			10	1140	+			271			Protein kinase.		A6NGT8	Silent	SNP	ENST00000367385.4	37	c.813T>G	CCDS1394.1																																																																																				0.383	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2		NM_133494		11	35	0	0	0	0.008291	0	11	35		
ZNF281	23528	broad.mit.edu	37	1	200377338	200377338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:200377338G>A	ENST00000294740.3	-	2	1620	c.1496C>T	c.(1495-1497)cCa>cTa	p.P499L	ZNF281_ENST00000367353.1_Missense_Mutation_p.P499L|ZNF281_ENST00000367352.3_Missense_Mutation_p.P463L	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	499					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGAGCCACTTGGTTTTCCAGA	0.368																																						uc001gve.2		NaN																	0				ovary(1)|breast(1)	2						c.(1495-1497)CCA>CTA		zinc finger protein 281							89.0	84.0	85.0					1																	200377338		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377338G>A	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1496C>T	1.37:g.200377338G>A	ENSP00000294740:p.Pro499Leu					ZNF281_uc001gvf.1_Missense_Mutation_p.P499L|ZNF281_uc001gvg.1_Missense_Mutation_p.P463L	p.P499L	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	1603	-			499					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1496C>T	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.256044	0.22965	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.40756	1.02;1.02;1.02	5.64	5.64	0.86602	.	0.266849	0.38605	N	0.001634	T	0.35098	0.0920	L	0.36672	1.1	0.42968	D	0.994427	P;P	0.48162	0.906;0.906	B;B	0.41036	0.346;0.346	T	0.15549	-1.0433	10	0.46703	T	0.11	-8.0491	13.7988	0.63188	0.0:0.0:0.8376:0.1624	.	463;499	A6NF48;Q9Y2X9	.;ZN281_HUMAN	L	499;499;463;204	ENSP00000294740:P499L;ENSP00000356322:P499L;ENSP00000356321:P463L	ENSP00000294740:P499L	P	-	2	0	ZNF281	198643961	1.000000	0.71417	0.953000	0.39169	0.998000	0.95712	4.491000	0.60326	2.646000	0.89796	0.655000	0.94253	CCA		0.368	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2		NM_012482		37	124	0	0	0	0.004878	0	37	124		
C1orf106	55765	broad.mit.edu	37	1	200878016	200878016	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:200878016G>A	ENST00000367342.4	+	7	1188	c.988G>A	c.(988-990)Gac>Aac	p.D330N	C1orf106_ENST00000413687.2_Missense_Mutation_p.D245N	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	330	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AACCAGCCTGGACCACCCCTA	0.642																																						uc001gvo.2		NaN																	0				skin(2)|ovary(1)	3						c.(988-990)GAC>AAC		hypothetical protein LOC55765 isoform 1							32.0	36.0	34.0					1																	200878016		2203	4300	6503	SO:0001583	missense	55765							g.chr1:200878016G>A	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.988G>A	1.37:g.200878016G>A	ENSP00000356311:p.Asp330Asn					C1orf106_uc010ppm.1_Missense_Mutation_p.D245N	p.D330N	NM_018265	NP_060735	Q3KP66	CA106_HUMAN			7	1018	+			330			Pro-rich.		B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37	c.988G>A		.	.	.	.	.	.	.	.	.	.	G	23.3	4.397059	0.83120	.	.	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.65732	-0.13;-0.17	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	L	0.60455	1.87	0.47547	D	0.999458	D	0.89917	1.0	D	0.78314	0.991	T	0.76250	-0.3028	10	0.51188	T	0.08	-30.4472	15.5868	0.76489	0.0:0.0:1.0:0.0	.	330	Q3KP66	CA106_HUMAN	N	330;245	ENSP00000356311:D330N;ENSP00000392105:D245N	ENSP00000356311:D330N	D	+	1	0	C1orf106	199144639	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.419000	0.80179	2.399000	0.81585	0.563000	0.77884	GAC		0.642	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2		NM_018265		9	44	0	0	0	0.010729	0	9	44		
C1orf106	55765	broad.mit.edu	37	1	200880945	200880945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:200880945G>A	ENST00000367342.4	+	9	1779	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	C1orf106_ENST00000413687.2_Missense_Mutation_p.E442K	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	527										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGTGGTGGCTGAGAGCCCCCT	0.731																																						uc001gvo.2		NaN																	0				skin(2)|ovary(1)	3						c.(1579-1581)GAG>AAG		hypothetical protein LOC55765 isoform 1							7.0	9.0	8.0					1																	200880945		2126	4120	6246	SO:0001583	missense	55765							g.chr1:200880945G>A	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1579G>A	1.37:g.200880945G>A	ENSP00000356311:p.Glu527Lys					C1orf106_uc010ppm.1_Missense_Mutation_p.E442K	p.E527K	NM_018265	NP_060735	Q3KP66	CA106_HUMAN			9	1609	+			527					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37	c.1579G>A		.	.	.	.	.	.	.	.	.	.	G	11.64	1.697863	0.30142	.	.	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.32272	1.46;1.46	4.75	2.86	0.33363	.	0.547416	0.17177	N	0.184021	T	0.17619	0.0423	N	0.24115	0.695	0.19300	N	0.999976	B	0.30068	0.267	B	0.25140	0.058	T	0.15009	-1.0452	10	0.32370	T	0.25	-12.2015	7.6262	0.28214	0.0913:0.1654:0.7432:0.0	.	527	Q3KP66	CA106_HUMAN	K	527;442	ENSP00000356311:E527K;ENSP00000392105:E442K	ENSP00000356311:E527K	E	+	1	0	C1orf106	199147568	0.998000	0.40836	0.380000	0.26093	0.158000	0.22134	3.990000	0.56965	0.428000	0.26173	0.557000	0.71058	GAG		0.731	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2		NM_018265		4	12	0	0	0	0.001984	0	4	12		
PPP1R12B	4660	broad.mit.edu	37	1	202318026	202318026	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:202318026G>A	ENST00000608999.1	+	1	200	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.R16Q|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R16Q|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.R16Q	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	16					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGTCGGCGCGAATGCGGCGG	0.682																																						uc001gya.1		NaN																	0				ovary(3)	3						c.(46-48)CGA>CAA		protein phosphatase 1, regulatory (inhibitor)							14.0	21.0	18.0					1																	202318026		2168	4231	6399	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202318026G>A	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.47G>A	1.37:g.202318026G>A	ENSP00000476755:p.Arg16Gln					PPP1R12B_uc001gxy.2_Missense_Mutation_p.R16Q|PPP1R12B_uc009xad.1_5'UTR|PPP1R12B_uc009xae.1_Missense_Mutation_p.R16Q|PPP1R12B_uc001gxz.1_Missense_Mutation_p.R16Q	p.R16Q	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		1	191	+			16					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.47G>A	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597174	0.66332	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.69040	1.06;1.09;-0.37;-0.33	5.07	5.07	0.68467	.	0.000000	0.39687	N	0.001300	T	0.67496	0.2899	N	0.25332	0.735	0.80722	D	1	P;D;D;D	0.76494	0.582;0.996;0.999;0.999	B;P;P;P	0.61722	0.119;0.727;0.893;0.788	T	0.61569	-0.7036	10	0.18276	T	0.48	.	15.4748	0.75468	0.0:0.0:1.0:0.0	.	16;16;16;16	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	Q	16	ENSP00000384496:R16Q;ENSP00000337897:R16Q;ENSP00000417159:R16Q;ENSP00000349206:R16Q	ENSP00000337897:R16Q	R	+	2	0	PPP1R12B	200584649	0.015000	0.18098	0.996000	0.52242	0.998000	0.95712	1.651000	0.37302	2.623000	0.88846	0.655000	0.94253	CGA		0.682	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3		NM_032105		3	6	0	0	0	0.004672	0	3	6		
BTG2	7832	broad.mit.edu	37	1	203276346	203276346	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:203276346G>A	ENST00000290551.4	+	2	328	c.257G>A	c.(256-258)gGa>gAa	p.G86E	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	86					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			AGCCAGATCGGACTCAGCCAG	0.632																																						uc001gzq.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(256-258)GGA>GAA		B-cell translocation gene 2							45.0	46.0	46.0					1																	203276346		2203	4300	6503	SO:0001583	missense	7832				DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr1:203276346G>A		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.257G>A	1.37:g.203276346G>A	ENSP00000290551:p.Gly86Glu					FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	p.G86E	NM_006763	NP_006754	P78543	BTG2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.203)		2	328	+			86					A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	c.257G>A	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296584	0.81025	.	.	ENSG00000159388	ENST00000290551	T	0.25912	1.77	5.06	4.15	0.48705	Anti-proliferative protein (3);	0.169474	0.39274	N	0.001406	T	0.50939	0.1645	M	0.88906	2.99	0.48288	D	0.99962	D	0.71674	0.998	D	0.63877	0.919	T	0.56226	-0.8014	10	0.66056	D	0.02	-7.1292	8.8425	0.35151	0.1746:0.0:0.8254:0.0	.	86	P78543	BTG2_HUMAN	E	86	ENSP00000290551:G86E	ENSP00000290551:G86E	G	+	2	0	BTG2	201542969	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.468000	0.73551	1.132000	0.42129	0.313000	0.20887	GGA		0.632	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1		NM_006763		11	38	0	0	0	0.013537	0	11	38		
REN	5972	broad.mit.edu	37	1	204125005	204125005	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:204125005G>A	ENST00000272190.8	-	9	1030	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	REN_ENST00000367195.2_Silent_p.I331I	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	334					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGTGGAAAGAGATGTCGGGGA	0.567																																						uc001haq.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(1000-1002)ATC>ATT		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						61.0	59.0	60.0					1																	204125005		2203	4300	6503	SO:0001819	synonymous_variant	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204125005G>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.1002C>T	1.37:g.204125005G>A							p.I334I	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		9	1046	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		334					Q6FI38|Q6T5C2	Silent	SNP	ENST00000272190.8	37	c.1002C>T	CCDS30981.1																																																																																				0.567	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1		NM_000537		8	9	0	0	0	0.00308	0	8	9		
CDK18	5129	broad.mit.edu	37	1	205498223	205498223	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:205498223C>T	ENST00000360066.2	+	11	1372	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	CDK18_ENST00000506784.1_Splice_Site_p.L387L|CDK18_ENST00000429964.2_Splice_Site_p.L357L|CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	355	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TTCGCCTCCTCGGTCAGTCTC	0.706											OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(180;489 2072 28461 40831 44265)	uc001hcr.2		NaN																	0				stomach(2)	2						c.(1159-1161)CTC>CTT		PCTAIRE protein kinase 3 isoform a							19.0	18.0	18.0					1																	205498223		2202	4295	6497	SO:0001630	splice_region_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205498223C>T	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.1072+1C>T	1.37:g.205498223C>T			OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2152	CDK18_uc001hcp.2_Silent_p.L357L|CDK18_uc001hcq.2_Silent_p.L357L|CDK18_uc010prj.1_Silent_p.L268L|CDK18_uc001hcs.2_Silent_p.L268L|CDK18_uc009xbm.1_Silent_p.L282L|CDK18_uc001hct.2_5'Flank	p.L387L	NM_212503	NP_997668	Q07002	CDK18_HUMAN			11	1380	+			355			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	ENST00000360066.2	37	c.1161C>T	CCDS44300.1																																																																																				0.706	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2		NM_002596	Silent	3	1	0	0	0	0.004672	0	3	1		
SLC41A1	254428	broad.mit.edu	37	1	205767810	205767810	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:205767810G>A	ENST00000367137.3	-	6	1845	c.831C>T	c.(829-831)ctC>ctT	p.L277L	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	277					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTTCCAGGTAGAGTCCCCAGC	0.557																																						uc001hdh.1		NaN																	0				skin(2)	2						c.(829-831)CTC>CTT		solute carrier family 41 member 1							90.0	91.0	91.0					1																	205767810		2203	4300	6503	SO:0001819	synonymous_variant	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205767810G>A	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.831C>T	1.37:g.205767810G>A						SLC41A1_uc001hdg.1_5'Flank|uc001hdi.1_5'Flank	p.L277L	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		6	1703	-	Breast(84;0.0799)		277			Helical; (Potential).		Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	ENST00000367137.3	37	c.831C>T	CCDS30988.1																																																																																				0.557	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1				19	87	0	0	0	0.007413	0	19	87		
MAPKAPK2	9261	broad.mit.edu	37	1	206904547	206904547	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:206904547C>T	ENST00000367103.3	+	7	1025	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.R278C	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CATGAAGACTCGCATCCGAAT	0.547																																						uc001hem.1		NaN																	0					0						c.(832-834)CGC>TGC		mitogen-activated protein kinase-activated							116.0	108.0	110.0					1																	206904547		2203	4300	6503	SO:0001583	missense	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206904547C>T	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.832C>T	1.37:g.206904547C>T	ENSP00000356070:p.Arg278Cys					MAPKAPK2_uc001hel.1_Missense_Mutation_p.R278C	p.R278C	NM_032960	NP_116584	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		7	1118	+	Breast(84;0.183)		278			Protein kinase.		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	c.832C>T	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773034	0.90108	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.67523	-0.27;-0.27	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.80076	0.4557	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.988;0.994	T	0.81193	-0.1044	9	0.87932	D	0	-18.0674	18.2248	0.89914	0.0:1.0:0.0:0.0	.	278;278	P49137;P49137-2	MAPK2_HUMAN;.	C	278	ENSP00000294981:R278C;ENSP00000356070:R278C	ENSP00000294981:R278C	R	+	1	0	MAPKAPK2	204971170	0.982000	0.34865	0.989000	0.46669	0.979000	0.70002	2.649000	0.46656	2.659000	0.90383	0.655000	0.94253	CGC		0.547	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1		NM_004759		20	63	0	0	0	0.010504	0	20	63		
C4BPA	722	broad.mit.edu	37	1	207317297	207317297	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:207317297G>A	ENST00000367070.3	+	11	1773	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	527	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CACTTGCTCTGGGAACAGAAC	0.493																																						uc001hfo.2		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1579-1581)GGG>AGG		complement component 4 binding protein, alpha							161.0	140.0	147.0					1																	207317297		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207317297G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1579G>A	1.37:g.207317297G>A	ENSP00000356037:p.Gly527Arg						p.G527R	NM_000715	NP_000706	P04003	C4BPA_HUMAN			11	1773	+			527			Sushi 8.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.1579G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753898	0.31046	.	.	ENSG00000123838	ENST00000367070	T	0.65178	-0.14	5.29	5.29	0.74685	Complement control module (2);Sushi/SCR/CCP (3);	0.107041	0.41605	D	0.000855	T	0.47820	0.1466	N	0.16708	0.43	0.23533	N	0.997477	B	0.18310	0.027	B	0.28784	0.094	T	0.28427	-1.0044	10	0.21014	T	0.42	.	14.788	0.69819	0.0:0.0:1.0:0.0	.	527	P04003	C4BPA_HUMAN	R	527	ENSP00000356037:G527R	ENSP00000356037:G527R	G	+	1	0	C4BPA	205383920	0.437000	0.25593	0.742000	0.31022	0.035000	0.12851	4.003000	0.57061	2.638000	0.89438	0.650000	0.86243	GGG		0.493	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3				32	51	0	0	0	0.010818	0	32	51		
NEK2	4751	broad.mit.edu	37	1	211842601	211842601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:211842601C>T	ENST00000366999.4	-	6	977	c.839G>A	c.(838-840)aGa>aAa	p.R280K	NEK2_ENST00000366998.3_Missense_Mutation_p.R280K|NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000540251.1_Missense_Mutation_p.R237K	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	280	Interaction with PCNT.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AAGATTTCTTCTTTGCTCGTC	0.408																																						uc001hir.1		NaN																	0				breast(2)|stomach(1)	3						c.(838-840)AGA>AAA		NIMA-related kinase 2							109.0	110.0	110.0					1																	211842601		2203	4299	6502	SO:0001583	missense	4751				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	g.chr1:211842601C>T	U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.839G>A	1.37:g.211842601C>T	ENSP00000355966:p.Arg280Lys					NEK2_uc001hiq.1_Missense_Mutation_p.R280K|NEK2_uc001his.3_Missense_Mutation_p.R280K|NEK2_uc001hit.1_RNA	p.R280K	NM_002497	NP_002488	P51955	NEK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	6	985	-			280			Interaction with PCNT.		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	ENST00000366999.4	37	c.839G>A	CCDS1500.1	.	.	.	.	.	.	.	.	.	.	C	2.067	-0.413936	0.04799	.	.	ENSG00000117650	ENST00000366999;ENST00000540251;ENST00000366998	D;D;T	0.88586	-2.4;-2.4;1.85	4.91	3.05	0.35203	.	0.268920	0.46442	N	0.000295	T	0.77811	0.4186	L	0.29908	0.895	0.22835	N	0.998679	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.57142	-0.7862	10	0.05959	T	0.93	.	8.7238	0.34456	0.0:0.6986:0.0:0.3014	.	280;280;280	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	K	280;237;280	ENSP00000355966:R280K;ENSP00000440237:R237K;ENSP00000355965:R280K	ENSP00000355965:R280K	R	-	2	0	NEK2	209909224	0.736000	0.28164	0.084000	0.20598	0.935000	0.57460	0.437000	0.21543	0.607000	0.29982	-0.225000	0.12378	AGA		0.408	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1		NM_002497		41	132	0	0	0	0.00874	0	41	132		
INTS7	25896	broad.mit.edu	37	1	212118233	212118233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:212118233C>T	ENST00000366994.3	-	19	2598	c.2494G>A	c.(2494-2496)Gag>Aag	p.E832K	INTS7_ENST00000366992.3_Missense_Mutation_p.E812K|INTS7_ENST00000366993.3_Missense_Mutation_p.E818K|INTS7_ENST00000440600.2_Missense_Mutation_p.E783K|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	832					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ACCACTCCCTCTACCTTTAGC	0.498																																						uc001hiw.1		NaN																	0					0						c.(2494-2496)GAG>AAG		integrator complex subunit 7							130.0	119.0	123.0					1																	212118233		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212118233C>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2494G>A	1.37:g.212118233C>T	ENSP00000355961:p.Glu832Lys					INTS7_uc009xdb.1_Missense_Mutation_p.E812K|INTS7_uc001hix.1_Missense_Mutation_p.E708K|INTS7_uc001hiy.1_Missense_Mutation_p.E818K|INTS7_uc010pta.1_Missense_Mutation_p.E783K	p.E832K	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	19	2599	-			832					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.2494G>A	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	C	35	5.533598	0.96460	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.61627	0.33;0.28;0.09;0.31	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.69358	2.11	0.80722	D	1	D;D;P;P	0.67145	0.996;0.974;0.906;0.906	D;D;B;P	0.73708	0.981;0.953;0.418;0.52	T	0.77509	-0.2561	10	0.87932	D	0	-24.9909	19.5159	0.95165	0.0:1.0:0.0:0.0	.	783;812;818;832	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	K	832;818;812;783	ENSP00000355961:E832K;ENSP00000355960:E818K;ENSP00000355959:E812K;ENSP00000388908:E783K	ENSP00000355959:E812K	E	-	1	0	INTS7	210184856	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.442000	0.80503	2.621000	0.88768	0.655000	0.94253	GAG		0.498	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1		NM_015434		26	80	0	0	0	0.003954	0	26	80		
USH2A	7399	broad.mit.edu	37	1	216019244	216019244	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:216019244A>G	ENST00000307340.3	-	45	9363	c.8977T>C	c.(8977-8979)Tat>Cat	p.Y2993H	USH2A_ENST00000366943.2_Missense_Mutation_p.Y2993H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2993	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGATCCAATACTCTGTGTTT	0.433										HNSCC(13;0.011)																												uc001hku.1		NaN																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8977-8979)TAT>CAT		usherin isoform B							104.0	98.0	100.0					1																	216019244		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216019244A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8977T>C	1.37:g.216019244A>G	ENSP00000305941:p.Tyr2993His	HNSCC(13;0.011)					p.Y2993H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	45	9364	-			2993			Fibronectin type-III 16.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8977T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.188119	0.57909	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.89343	-2.5;-2.5	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41001	D	0.000977	D	0.94981	0.8376	M	0.84433	2.695	0.51767	D	0.999933	D	0.89917	1.0	D	0.91635	0.999	D	0.95426	0.8512	10	0.66056	D	0.02	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	2993	O75445	USH2A_HUMAN	H	2993	ENSP00000305941:Y2993H;ENSP00000355910:Y2993H	ENSP00000305941:Y2993H	Y	-	1	0	USH2A	214085867	1.000000	0.71417	0.981000	0.43875	0.830000	0.47004	7.328000	0.79160	2.254000	0.74563	0.533000	0.62120	TAT		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		14	54	0	0	0	0.003163	0	14	54		
EPRS	2058	broad.mit.edu	37	1	220146632	220146632	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:220146632C>G	ENST00000366923.3	-	29	4461	c.4192G>C	c.(4192-4194)Gag>Cag	p.E1398Q		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1398	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	AGTTTAGTCTCTGCCTCATTT	0.433																																						uc001hly.1		NaN																	0				ovary(1)|skin(1)	2						c.(4192-4194)GAG>CAG		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						185.0	171.0	176.0					1																	220146632		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220146632C>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4192G>C	1.37:g.220146632C>G	ENSP00000355890:p.Glu1398Gln						p.E1398Q	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	29	4462	-			1398			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.4192G>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351635	0.82132	.	.	ENSG00000136628	ENST00000366923	D	0.82803	-1.65	5.91	5.91	0.95273	Anticodon-binding (3);	0.047351	0.85682	D	0.000000	D	0.90410	0.6998	M	0.84433	2.695	0.54753	D	0.999988	P	0.48834	0.916	P	0.54026	0.74	D	0.89497	0.3761	10	0.42905	T	0.14	-34.4305	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1398	P07814	SYEP_HUMAN	Q	1398	ENSP00000355890:E1398Q	ENSP00000355890:E1398Q	E	-	1	0	EPRS	218213255	1.000000	0.71417	0.997000	0.53966	0.808000	0.45660	7.423000	0.80229	2.793000	0.96121	0.655000	0.94253	GAG		0.433	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2		NM_004446		42	60	0	0	0	0.00874	0	42	60		
HLX	3142	broad.mit.edu	37	1	221057702	221057702	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:221057702G>A	ENST00000366903.6	+	4	2624	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	HLX_ENST00000549319.1_Missense_Mutation_p.E161K	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	375	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AGGCGAGGCTGAGAGCGAGAG	0.632																																						uc001hmv.3		NaN																	0				ovary(2)	2						c.(1123-1125)GAG>AAG		H2.0-like homeobox							49.0	46.0	47.0					1																	221057702		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057702G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1123G>A	1.37:g.221057702G>A	ENSP00000355870:p.Glu375Lys						p.E375K	NM_021958	NP_068777	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	1580	+			375			Ser-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1123G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	35	5.580792	0.96565	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	T;T;T	0.54866	1.0;0.55;3.33	4.26	4.26	0.50523	.	0.000000	0.56097	D	0.000031	T	0.60856	0.2301	L	0.34521	1.04	0.53005	D	0.999962	D	0.76494	0.999	D	0.78314	0.991	T	0.57545	-0.7793	10	0.30078	T	0.28	-34.8	15.9529	0.79859	0.0:0.0:1.0:0.0	.	375	Q14774	HLX_HUMAN	K	375;108;161	ENSP00000355870:E375K;ENSP00000408248:E108K;ENSP00000449882:E161K	ENSP00000355870:E375K	E	+	1	0	HLX	219124325	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.250000	0.78287	2.384000	0.81235	0.561000	0.74099	GAG		0.632	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3		NM_021958		11	13	0	0	0	0.004007	0	11	13		
DUSP10	11221	broad.mit.edu	37	1	221875931	221875931	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:221875931C>T	ENST00000366899.3	-	4	1510	c.1272G>A	c.(1270-1272)atG>atA	p.M424I	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.M82I|DUSP10_ENST00000323825.3_Missense_Mutation_p.M82I	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	424	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GAGTGTGCTTCATCAAGTAAG	0.507																																						uc001hmy.1		NaN																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(1270-1272)ATG>ATA		dual specificity phosphatase 10 isoform a							160.0	145.0	150.0					1																	221875931		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221875931C>T	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.1272G>A	1.37:g.221875931C>T	ENSP00000355866:p.Met424Ile					DUSP10_uc001hmx.1_Missense_Mutation_p.M82I|DUSP10_uc001hmz.1_Missense_Mutation_p.M82I	p.M424I	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	4	1454	-			424			Tyrosine-protein phosphatase.		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.1272G>A	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925175	0.92319	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	D;D;D	0.90444	-2.67;-2.67;-2.67	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.95063	0.8401	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94570	0.7770	10	0.62326	D	0.03	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	424	Q9Y6W6	DUS10_HUMAN	I	424;369;82;82	ENSP00000355866:M424I;ENSP00000322015:M82I;ENSP00000441302:M82I	ENSP00000322015:M82I	M	-	3	0	DUSP10	219942554	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.776000	0.85560	2.865000	0.98341	0.655000	0.94253	ATG		0.507	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1		NM_007207		92	59	0	0	0	0.01441	0	92	59		
NVL	4931	broad.mit.edu	37	1	224492452	224492452	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:224492452C>T	ENST00000281701.6	-	8	1070	c.811G>A	c.(811-813)Gat>Aat	p.D271N	NVL_ENST00000391875.2_Missense_Mutation_p.D165N|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000340871.4_Missense_Mutation_p.D55N|NVL_ENST00000469075.1_Missense_Mutation_p.D180N|NVL_ENST00000361463.3_Missense_Mutation_p.D165N|RNU6-1008P_ENST00000384160.1_RNA	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	271						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		AATGTCATATCATTGCCTCCC	0.343																																						uc001hok.2		NaN																	0				skin(2)	2						c.(811-813)GAT>AAT		nuclear VCP-like isoform 1							141.0	146.0	144.0					1																	224492452		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224492452C>T	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.811G>A	1.37:g.224492452C>T	ENSP00000281701:p.Asp271Asn					NVL_uc001hol.2_Missense_Mutation_p.D165N|NVL_uc010pvd.1_Missense_Mutation_p.D180N|NVL_uc010pve.1_Missense_Mutation_p.D55N|NVL_uc010pvf.1_RNA	p.D271N	NM_002533	NP_002524	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	8	854	-			271					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.811G>A	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	C	34	5.392832	0.96009	.	.	ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000340871;ENST00000361463;ENST00000492281;ENST00000488718;ENST00000436927	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.35	5.35	0.76521	.	0.099053	0.64402	D	0.000002	D	0.88829	0.6543	M	0.83118	2.625	0.80722	D	1	P;P;P	0.52692	0.749;0.945;0.955	B;P;P	0.57468	0.412;0.552;0.821	D	0.90088	0.4175	10	0.62326	D	0.03	-20.9635	17.2423	0.87016	0.0:1.0:0.0:0.0	.	55;180;271	B4DMC4;B4DP98;O15381	.;.;NVL_HUMAN	N	271;165;180;55;165;176;180;167	ENSP00000281701:D271N;ENSP00000375747:D165N;ENSP00000417826:D180N;ENSP00000341362:D55N;ENSP00000354779:D165N	ENSP00000281701:D271N	D	-	1	0	NVL	222559075	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	6.437000	0.73421	2.500000	0.84329	0.655000	0.94253	GAT		0.343	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2		NM_002533		45	216	0	0	0	0.01441	0	45	216		
OBSCN	84033	broad.mit.edu	37	1	228505341	228505341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:228505341G>A	ENST00000422127.1	+	52	13782	c.13738G>A	c.(13738-13740)Gag>Aag	p.E4580K	OBSCN_ENST00000366709.4_Missense_Mutation_p.E1699K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2214K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4580K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E5537K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4580	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCTGGACCCGAGTGTGTGGT	0.687																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(13738-13740)GAG>AAG		obscurin, cytoskeletal calmodulin and							27.0	34.0	32.0					1																	228505341		2099	4210	6309	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228505341G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13738G>A	1.37:g.228505341G>A	ENSP00000409493:p.Glu4580Lys					OBSCN_uc001hsn.2_Missense_Mutation_p.E4580K	p.E4580K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			52	13782	+		Prostate(94;0.0405)	4580			Fibronectin type-III 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.13738G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	34	5.294113	0.95546	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.51	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.68421	0.2999	L	0.49513	1.565	0.49389	D	0.99978	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.949	T	0.62765	-0.6785	10	0.16420	T	0.52	.	17.4347	0.87548	0.0:0.0:1.0:0.0	.	4580;4580	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	4580;4580;2214;1699	ENSP00000284548:E4580K;ENSP00000409493:E4580K;ENSP00000355668:E2214K;ENSP00000355670:E1699K	ENSP00000284548:E4580K	E	+	1	0	OBSCN	226571964	1.000000	0.71417	0.985000	0.45067	0.852000	0.48524	5.069000	0.64370	2.368000	0.80403	0.479000	0.44913	GAG		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		10	17	0	0	0	0.008291	0	10	17		
TRIM11	81559	broad.mit.edu	37	1	228582712	228582712	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:228582712C>T	ENST00000284551.6	-	6	1379	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E	TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000493030.2_Silent_p.E242E	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	367	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCTCGCCCTTCTCCTTCCTGT	0.647																																						uc001hss.2		NaN																	0				lung(3)|ovary(1)	4						c.(1099-1101)GAG>GAA		tripartite motif-containing 11							93.0	91.0	92.0					1																	228582712		2203	4300	6503	SO:0001819	synonymous_variant	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228582712C>T	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.1101G>A	1.37:g.228582712C>T						TRIM11_uc010pvx.1_Silent_p.E366E	p.E367E	NM_145214	NP_660215	Q96F44	TRI11_HUMAN			6	1356	-		Prostate(94;0.0724)	367			B30.2/SPRY.		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Silent	SNP	ENST00000284551.6	37	c.1101G>A	CCDS31048.1																																																																																				0.647	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3		NM_145214		22	19	0	0	0	0.003954	0	22	19		
PGBD5	79605	broad.mit.edu	37	1	230486730	230486730	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:230486730A>G	ENST00000525115.1	-	3	684	c.661T>C	c.(661-663)Tgt>Cgt	p.C221R	PGBD5_ENST00000391860.1_Missense_Mutation_p.C175R|PGBD5_ENST00000321327.2_Missense_Mutation_p.C320R			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	221						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GTGGAAGAACATTGTCTGACC	0.567																																						uc010pwb.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(661-663)TGT>CGT		piggyBac transposable element derived 5							118.0	112.0	114.0					1																	230486730		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230486730A>G	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.661T>C	1.37:g.230486730A>G	ENSP00000431404:p.Cys221Arg					PGBD5_uc001htv.2_Missense_Mutation_p.C320R	p.C221R	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	3	661	-	Breast(184;0.0397)	Prostate(94;0.167)	221					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.661T>C		.	.	.	.	.	.	.	.	.	.	A	21.9	4.218805	0.79464	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.16597	2.33;2.33;2.33	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02491	-1.1151	10	0.42905	T	0.14	-35.708	15.9745	0.80049	1.0:0.0:0.0:0.0	.	221	Q8N414	PGBD5_HUMAN	R	175;320;221	ENSP00000375733:C175R;ENSP00000322530:C320R;ENSP00000431404:C221R	ENSP00000322530:C320R	C	-	1	0	PGBD5	228553353	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.088000	0.94132	2.168000	0.68352	0.533000	0.62120	TGT		0.567	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1		NM_024554		24	58	0	0	0	0.003954	0	24	58		
AGT	183	broad.mit.edu	37	1	230845940	230845940	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:230845940C>T	ENST00000366667.4	-	2	871	c.657G>A	c.(655-657)ctG>ctA	p.L219L	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	219					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACGGCTGCTTCAGGTGCAGGC	0.617																																						uc001hty.3		NaN																	0					0						c.(655-657)CTG>CTA		angiotensinogen preproprotein	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						44.0	46.0	46.0					1																	230845940		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230845940C>T	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.657G>A	1.37:g.230845940C>T						AGT_uc009xfe.2_Silent_p.L219L|AGT_uc009xff.2_Silent_p.L191L	p.L219L	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	1165	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	219					Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.657G>A	CCDS1585.1																																																																																				0.617	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1		NM_000029		16	23	0	0	0	0.004007	0	16	23		
GNG4	2786	broad.mit.edu	37	1	235747067	235747067	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:235747067C>G	ENST00000366598.4	-	2	287	c.72G>C	c.(70-72)aaG>aaC	p.K24N	GNG4_ENST00000450593.1_Missense_Mutation_p.K24N|GNG4_ENST00000391854.2_Missense_Mutation_p.K24N|GNG4_ENST00000366597.1_Missense_Mutation_p.K24N|GNG4_ENST00000484517.1_5'UTR			P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	24					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.K24N(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			AGGCTTCCATCTTTAGCTGCT	0.512																																						uc001hxe.3		NaN																	1	Substitution - Missense(1)		NS(1)		0						c.(70-72)AAG>AAC		guanine nucleotide binding protein (G protein),							182.0	168.0	172.0					1																	235747067		2203	4300	6503	SO:0001583	missense	2786				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr1:235747067C>G	BC022485	CCDS1607.1	1q42.3	2008-02-05			ENSG00000168243	ENSG00000168243			4407	protein-coding gene	gene with protein product		604388				7665596	Standard	NM_001098721		Approved		uc001hxh.4	P50150	OTTHUMG00000040740	ENST00000366598.4:c.72G>C	1.37:g.235747067C>G	ENSP00000355557:p.Lys24Asn					GNG4_uc009xfz.2_Missense_Mutation_p.K24N|GNG4_uc001hxh.3_Missense_Mutation_p.K24N	p.K24N	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000882)		3	526	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	24						Missense_Mutation	SNP	ENST00000366598.4	37	c.72G>C	CCDS1607.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206841	0.79127	.	.	ENSG00000168243	ENST00000450593;ENST00000391854;ENST00000366598;ENST00000366597	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.52	4.41	0.53225	G-protein gamma domain (5);	0.000000	0.85682	D	0.000000	T	0.45478	0.1344	.	.	.	0.35943	D	0.83338	D	0.62365	0.991	P	0.59825	0.864	T	0.57271	-0.7840	9	0.87932	D	0	-14.4826	8.619	0.33849	0.0:0.8406:0.0:0.1594	.	24	P50150	GBG4_HUMAN	N	24	ENSP00000398629:K24N;ENSP00000375727:K24N;ENSP00000355557:K24N;ENSP00000355556:K24N	ENSP00000355556:K24N	K	-	3	2	GNG4	233813690	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.361000	0.44160	2.580000	0.87095	0.655000	0.94253	AAG		0.512	GNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097906.1		NM_004485		79	69	0	0	0	0.01441	0	79	69		
GNG4	2786	broad.mit.edu	37	1	235747078	235747078	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:235747078C>T	ENST00000366598.4	-	2	276	c.61G>A	c.(61-63)Gag>Aag	p.E21K	GNG4_ENST00000450593.1_Missense_Mutation_p.E21K|GNG4_ENST00000391854.2_Missense_Mutation_p.E21K|GNG4_ENST00000366597.1_Missense_Mutation_p.E21K|GNG4_ENST00000484517.1_5'UTR			P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	21					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			TTTAGCTGCTCCACAGCTTTC	0.507																																						uc001hxe.3		NaN																	0					0						c.(61-63)GAG>AAG		guanine nucleotide binding protein (G protein),							179.0	166.0	170.0					1																	235747078		2203	4300	6503	SO:0001583	missense	2786				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr1:235747078C>T	BC022485	CCDS1607.1	1q42.3	2008-02-05			ENSG00000168243	ENSG00000168243			4407	protein-coding gene	gene with protein product		604388				7665596	Standard	NM_001098721		Approved		uc001hxh.4	P50150	OTTHUMG00000040740	ENST00000366598.4:c.61G>A	1.37:g.235747078C>T	ENSP00000355557:p.Glu21Lys					GNG4_uc009xfz.2_Missense_Mutation_p.E21K|GNG4_uc001hxh.3_Missense_Mutation_p.E21K	p.E21K	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000882)		3	515	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	21						Missense_Mutation	SNP	ENST00000366598.4	37	c.61G>A	CCDS1607.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815913	0.90790	.	.	ENSG00000168243	ENST00000450593;ENST00000391854;ENST00000366598;ENST00000366597	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.52	4.61	0.57282	G-protein gamma domain (5);	0.000000	0.64402	D	0.000001	T	0.47173	0.1431	.	.	.	0.40036	D	0.975596	P	0.50819	0.939	P	0.51453	0.67	T	0.53180	-0.8475	9	0.87932	D	0	-12.9242	11.514	0.50509	0.0:0.9154:0.0:0.0846	.	21	P50150	GBG4_HUMAN	K	21	ENSP00000398629:E21K;ENSP00000375727:E21K;ENSP00000355557:E21K;ENSP00000355556:E21K	ENSP00000355556:E21K	E	-	1	0	GNG4	233813701	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.957000	0.63652	1.325000	0.45301	0.655000	0.94253	GAG		0.507	GNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097906.1		NM_004485		89	76	0	0	0	0.01441	0	89	76		
NID1	4811	broad.mit.edu	37	1	236228224	236228224	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:236228224G>A	ENST00000264187.6	-	1	238	c.156C>T	c.(154-156)ttC>ttT	p.F52F	NID1_ENST00000366595.3_Silent_p.F52F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	52					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CAGGAGAGACGAAGTCATCCC	0.697																																						uc001hxo.2		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(154-156)TTC>TTT		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						29.0	25.0	26.0					1																	236228224		2200	4299	6499	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236228224G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.156C>T	1.37:g.236228224G>A						NID1_uc009xgd.2_Silent_p.F52F|uc001hxp.1_Missense_Mutation_p.R122Q	p.F52F	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	258	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	52					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.156C>T	CCDS1608.1																																																																																				0.697	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2		NM_002508		11	6	0	0	0	0.010729	0	11	6		
HEATR1	55127	broad.mit.edu	37	1	236738083	236738083	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:236738083C>G	ENST00000366582.3	-	23	3319	c.3205G>C	c.(3205-3207)Gaa>Caa	p.E1069Q	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1069					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACTGAAAATTCATTATACTTT	0.428																																						uc001hyd.1		NaN																	0				ovary(2)|skin(1)	3						c.(3205-3207)GAA>CAA		protein BAP28							72.0	73.0	72.0					1																	236738083		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236738083C>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3205G>C	1.37:g.236738083C>G	ENSP00000355541:p.Glu1069Gln					HEATR1_uc009xgh.1_Intron	p.E1069Q	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		23	3330	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1069					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.3205G>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565609	0.86439	.	.	ENSG00000119285	ENST00000366582	T	0.26067	1.76	5.84	5.84	0.93424	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.17715	-1.0360	10	0.19147	T	0.46	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	1069	Q9H583	HEAT1_HUMAN	Q	1069	ENSP00000355541:E1069Q	ENSP00000355541:E1069Q	E	-	1	0	HEATR1	234804706	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.947000	0.75959	2.760000	0.94817	0.655000	0.94253	GAA		0.428	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1		XM_375853		42	39	0	0	0	0.00874	0	42	39		
SDCCAG8	10806	broad.mit.edu	37	1	243480080	243480080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:243480080C>T	ENST00000366541.3	+	9	1071	c.953C>T	c.(952-954)gCa>gTa	p.A318V	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.A318V|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.A275V|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.A173V	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	318	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTGATGTCTGCACTAGTTTCC	0.413																																						uc001hzw.2		NaN																	0					0						c.(952-954)GCA>GTA		serologically defined colon cancer antigen 8							93.0	90.0	91.0					1																	243480080		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243480080C>T	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.953C>T	1.37:g.243480080C>T	ENSP00000355499:p.Ala318Val					SDCCAG8_uc010pyk.1_Missense_Mutation_p.A173V|SDCCAG8_uc010pyl.1_Missense_Mutation_p.A130V|SDCCAG8_uc001hzx.2_Missense_Mutation_p.A130V	p.A318V	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	9	1109	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	318			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.953C>T	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315871	0.23908	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.63	1.09	0.20402	.	0.165878	0.52532	N	0.000065	T	0.30448	0.0765	N	0.25789	0.76	0.21627	N	0.999614	B;B	0.22346	0.011;0.068	B;B	0.25884	0.01;0.064	T	0.17379	-1.0371	10	0.27082	T	0.32	-0.0443	8.5078	0.33197	0.0:0.6466:0.0:0.3534	.	275;318	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	V	275;318;318;173;98	ENSP00000348137:A275V;ENSP00000375721:A318V;ENSP00000355499:A318V;ENSP00000341260:A173V;ENSP00000410200:A98V	ENSP00000341260:A173V	A	+	2	0	SDCCAG8	241546703	0.935000	0.31712	0.071000	0.20095	0.813000	0.45954	1.898000	0.39809	0.014000	0.14944	-0.793000	0.03317	GCA		0.413	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1		NM_006642		28	50	0	0	0	0.00632	0	28	50		
ZBTB18	10472	broad.mit.edu	37	1	244218572	244218572	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:244218572G>C	ENST00000358704.4	+	2	1645	c.1496G>C	c.(1495-1497)tGt>tCt	p.C499S		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	490					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAGTTCCACTGTGAGTTGGTG	0.547																																						uc001iae.2		NaN																	0				ovary(3)|pancreas(2)	5						c.(1468-1470)TGT>TCT		zinc finger protein 238 isoform 2							84.0	84.0	84.0					1																	244218572		2203	4300	6503	SO:0001583	missense	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244218572G>C	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1496G>C	1.37:g.244218572G>C	ENSP00000351539:p.Cys499Ser					ZNF238_uc001iad.3_Missense_Mutation_p.C499S|ZNF238_uc001iaf.1_3'UTR	p.C490S	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	1991	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		490					A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.1469G>C	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920095	0.52653	.	.	ENSG00000179456	ENST00000358704	T	0.07908	3.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	N	0.08118	0	0.80722	D	1	D;D	0.61080	0.981;0.989	D;D	0.72625	0.95;0.978	T	0.33317	-0.9873	10	0.59425	D	0.04	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	490;499	Q99592;Q99592-2	ZN238_HUMAN;.	S	499	ENSP00000351539:C499S	ENSP00000351539:C499S	C	+	2	0	ZNF238	242285195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.749000	0.94314	0.655000	0.94253	TGT		0.547	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2		NM_205768		21	71	0	0	0	0.014323	0	21	71		
KIF26B	55083	broad.mit.edu	37	1	245851077	245851077	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:245851077C>G	ENST00000407071.2	+	12	5232	c.4792C>G	c.(4792-4794)Ctg>Gtg	p.L1598V	KIF26B_ENST00000366518.4_Missense_Mutation_p.L1217V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1598					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GACTCCCCCTCTGCCCCCTGT	0.687																																						uc001ibf.1		NaN																	0				ovary(3)	3						c.(4792-4794)CTG>GTG		kinesin family member 26B							12.0	18.0	16.0					1																	245851077		1941	4125	6066	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245851077C>G	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4792C>G	1.37:g.245851077C>G	ENSP00000385545:p.Leu1598Val					KIF26B_uc001ibg.1_Missense_Mutation_p.L1216V|KIF26B_uc001ibh.1_Missense_Mutation_p.L840V	p.L1598V	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		12	5232	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1598					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4792C>G	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.142596	0.00029	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.78364	-1.17;-1.17	5.34	2.43	0.29744	.	.	.	.	.	T	0.76292	0.3967	M	0.76574	2.34	0.21950	N	0.999454	D;P	0.56521	0.976;0.89	B;B	0.43194	0.411;0.393	T	0.64045	-0.6499	9	0.25106	T	0.35	.	12.6833	0.56934	0.0:0.7503:0.0:0.2497	.	1217;1598	B7WPD9;Q2KJY2	.;KI26B_HUMAN	V	1598;1217;1214	ENSP00000385545:L1598V;ENSP00000355475:L1217V	ENSP00000355475:L1217V	L	+	1	2	KIF26B	243917700	0.951000	0.32395	0.027000	0.17364	0.059000	0.15707	2.131000	0.42074	0.003000	0.14656	-2.069000	0.00389	CTG		0.687	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1		XM_371354		3	1	0	0	0	0.004672	0	3	1		
TFB2M	64216	broad.mit.edu	37	1	246729307	246729307	+	Missense_Mutation	SNP	G	G	A	rs575049840		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:246729307G>A	ENST00000366514.4	-	1	319	c.134C>T	c.(133-135)tCt>tTt	p.S45F	CNST_ENST00000366512.3_5'Flank|CNST_ENST00000366513.4_5'Flank|TFB2M_ENST00000544618.1_Missense_Mutation_p.S45F	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	45					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGAGGAGTCAGAGAGCCCACA	0.592																																						uc001ibn.2		NaN																	0				ovary(1)	1						c.(133-135)TCT>TTT		transcription factor B2, mitochondrial							58.0	63.0	62.0					1																	246729307		2203	4300	6503	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246729307G>A	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.134C>T	1.37:g.246729307G>A	ENSP00000355471:p.Ser45Phe					CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	p.S45F	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		1	259	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		45					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.134C>T	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984457	0.35036	.	.	ENSG00000162851	ENST00000366514;ENST00000544618	T	0.48201	0.82	4.48	1.44	0.22558	.	1.066640	0.07485	N	0.904651	T	0.36441	0.0967	L	0.29908	0.895	0.09310	N	1	P	0.37423	0.594	B	0.41723	0.365	T	0.36529	-0.9744	10	0.72032	D	0.01	-8.4954	1.5455	0.02564	0.187:0.1687:0.4704:0.174	.	45	Q9H5Q4	TFB2M_HUMAN	F	45	ENSP00000355471:S45F	ENSP00000355471:S45F	S	-	2	0	TFB2M	244795930	0.018000	0.18449	0.000000	0.03702	0.004000	0.04260	1.636000	0.37144	0.202000	0.20498	0.462000	0.41574	TCT		0.592	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1		NM_022366		14	60	0	0	0	0.003163	0	14	60		
TRIM58	25893	broad.mit.edu	37	1	248039263	248039263	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:248039263C>T	ENST00000366481.3	+	6	981	c.933C>T	c.(931-933)cgC>cgT	p.R311R	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	311	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCGACCTGCGCAGTGTGCAGG	0.572																																						uc001ido.2		NaN																	0		p.R311C(1)		skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(931-933)CGC>CGT		tripartite motif-containing 58							89.0	82.0	84.0					1																	248039263		2203	4300	6503	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248039263C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.933C>T	1.37:g.248039263C>T						OR2W3_uc001idp.1_5'UTR	p.R311R	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	981	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	311			B30.2/SPRY.		Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.933C>T	CCDS1636.1																																																																																				0.572	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1		NM_015431		16	30	0	0	0	0.00499	0	16	30		
OR2T3	343173	broad.mit.edu	37	1	248637237	248637237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:248637237G>A	ENST00000359594.2	+	1	611	c.586G>A	c.(586-588)Gac>Aac	p.D196N		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCTGCTCTGACGTCTCCCT	0.522																																						uc001iel.1		NaN																	0				skin(1)	1						c.(586-588)GAC>AAC		olfactory receptor, family 2, subfamily T,							157.0	128.0	137.0					1																	248637237		2146	4254	6400	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637237G>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.586G>A	1.37:g.248637237G>A	ENSP00000352604:p.Asp196Asn						p.D196N	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	586	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		196			Extracellular (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.586G>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	g	15.58	2.874633	0.51695	.	.	ENSG00000196539	ENST00000359594	T	0.00231	8.49	2.37	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	M	0.76002	2.32	0.19575	N	0.999967	P	0.35944	0.529	B	0.44163	0.443	T	0.20371	-1.0277	9	0.52906	T	0.07	.	8.6621	0.34099	0.1416:0.0:0.8584:0.0	.	196	Q8NH03	OR2T3_HUMAN	N	196	ENSP00000352604:D196N	ENSP00000352604:D196N	D	+	1	0	OR2T3	246703860	0.000000	0.05858	0.003000	0.11579	0.258000	0.26162	0.683000	0.25349	1.014000	0.39417	0.186000	0.17326	GAC		0.522	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1		NM_001005495		76	93	0	0	0	0.01441	0	76	93		
AKR1E2	83592	broad.mit.edu	37	10	4875593	4875593	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:4875593A>G	ENST00000298375.7	+	3	330	c.259A>G	c.(259-261)Agt>Ggt	p.S87G	AKR1E2_ENST00000532248.1_Missense_Mutation_p.S87G|AKR1E2_ENST00000345253.5_Missense_Mutation_p.S87G|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Missense_Mutation_p.S87G	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	87						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ATGCAGAAAGAGTCTCAAGGC	0.527																																					NSCLC(43;343 1097 20371 28813 45509)	uc001ihi.2		NaN																	0					0						c.(259-261)AGT>GGT		aldo-keto reductase family 1, member E2							249.0	207.0	221.0					10																	4875593		2203	4300	6503	SO:0001583	missense	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4875593A>G	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.259A>G	10.37:g.4875593A>G	ENSP00000298375:p.Ser87Gly					AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Intron|AKR1E2_uc001ihh.1_Missense_Mutation_p.S87G|AKR1E2_uc009xhw.2_Missense_Mutation_p.S87G|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Missense_Mutation_p.S87G	p.S87G	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN			3	374	+			87					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	37	c.259A>G	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702441	0.30232	.	.	ENSG00000165568	ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.63255	-0.03;1.17;1.17;1.17;1.17	3.63	2.47	0.30058	NADP-dependent oxidoreductase domain (3);	0.230650	0.42821	D	0.000645	T	0.76033	0.3931	M	0.85099	2.735	0.09310	N	1	P;P;P;D	0.65815	0.728;0.523;0.578;0.995	B;B;P;D	0.66497	0.366;0.333;0.464;0.944	T	0.65853	-0.6067	10	0.87932	D	0	.	7.8858	0.29648	0.8154:0.0:0.0:0.1846	.	87;87;87;87	Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;AKCL2_HUMAN;.	G	91;87;87;87;87	ENSP00000435436:S91G;ENSP00000298375:S87G;ENSP00000432947:S87G;ENSP00000335034:S87G;ENSP00000335603:S87G	ENSP00000298375:S87G	S	+	1	0	AKR1E2	4865593	0.924000	0.31332	0.001000	0.08648	0.041000	0.13682	6.362000	0.73077	0.746000	0.32786	0.459000	0.35465	AGT		0.527	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4		NM_031436		9	425	0	0	0	0.006214	0	9	425		
AKR1C1	1645	broad.mit.edu	37	10	5009208	5009208	+	Silent	SNP	C	C	T	rs200733341		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:5009208C>T	ENST00000380872.4	+	3	534	c.342C>T	c.(340-342)taC>taT	p.Y114Y	AKR1C1_ENST00000434459.2_Silent_p.Y114Y|AKR1C1_ENST00000380859.1_Silent_p.Y116Y|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	114					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	TTGACCTCTACCTTATTCATT	0.383																																					Colon(130;2054 2316 13360 15380)	uc001iho.2		NaN																	0				ovary(2)	2						c.(340-342)TAC>TAT		aldo-keto reductase family 1, member C1	NADH(DB00157)						123.0	113.0	116.0					10																	5009208		2203	4300	6503	SO:0001819	synonymous_variant	1645				bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5009208C>T	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.342C>T	10.37:g.5009208C>T						AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc009xhx.2_Silent_p.Y114Y|AKR1C1_uc001ihq.2_Silent_p.Y114Y	p.Y114Y	NM_001353	NP_001344	Q04828	AK1C1_HUMAN			8	1183	+			114					P52896|Q5SR15|Q7M4N2|Q9UCX2	Silent	SNP	ENST00000380872.4	37	c.342C>T	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	T	1.893	-0.454902	0.04540	.	.	ENSG00000187134	ENST00000442997	.	.	.	2.95	-5.29	0.02747	.	.	.	.	.	T	0.33118	0.0852	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.31888	-0.9927	4	.	.	.	.	11.8051	0.52150	0.0:0.588:0.0:0.412	rs15986;rs1138595;rs3174528	.	.	.	I	81	.	.	T	+	2	0	AKR1C1	4999208	0.010000	0.17322	0.000000	0.03702	0.011000	0.07611	0.003000	0.13083	-1.990000	0.00978	-0.893000	0.02921	ACC		0.383	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2		NM_001353		5	191	0	0	0	0.012319	0	5	191		
FRMD4A	55691	broad.mit.edu	37	10	13708121	13708121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:13708121G>A	ENST00000357447.2	-	18	1947	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	FRMD4A_ENST00000378503.1_Nonsense_Mutation_p.Q527*|FRMD4A_ENST00000358621.4_Nonsense_Mutation_p.Q512*	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	527					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GAAGCCCTCTGGGTGGGTTTC	0.567																																						uc001ims.2		NaN																	0				ovary(1)|skin(1)|pancreas(1)	3						c.(1579-1581)CAG>TAG		FERM domain containing 4A							115.0	116.0	116.0					10																	13708121		2203	4300	6503	SO:0001587	stop_gained	55691					cytoplasm|cytoskeleton	binding	g.chr10:13708121G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1579C>T	10.37:g.13708121G>A	ENSP00000350032:p.Gln527*					FRMD4A_uc009xjf.1_Nonsense_Mutation_p.Q527*|FRMD4A_uc001imt.1_Nonsense_Mutation_p.Q560*	p.Q527*	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			18	1931	-			527					A7E2Y3|Q5T377	Nonsense_Mutation	SNP	ENST00000357447.2	37	c.1579C>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	35	5.471946	0.96274	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-28.8941	18.5945	0.91225	0.0:0.0:1.0:0.0	.	.	.	.	X	512;527;527	.	ENSP00000350032:Q527X	Q	-	1	0	FRMD4A	13748127	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.655000	0.98512	2.641000	0.89580	0.561000	0.74099	CAG		0.567	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1		NM_018027		116	109	0	0	0	0.01441	0	116	109		
PTPLA	9200	broad.mit.edu	37	10	17641359	17641359	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:17641359C>T	ENST00000361271.3	-	5	572	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	179					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CGAGTGATCTCTGTCACAGTC	0.443																																						uc001ipg.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(535-537)GAG>AAG		protein tyrosine phosphatase-like, member A							160.0	128.0	139.0					10																	17641359		2203	4300	6503	SO:0001583	missense	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17641359C>T	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.535G>A	10.37:g.17641359C>T	ENSP00000355308:p.Glu179Lys						p.E179K	NM_014241	NP_055056	B0YJ81	HACD1_HUMAN			5	570	-			179			Helical; (Potential).		B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	c.535G>A	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623815	0.66901	.	.	ENSG00000165996	ENST00000361271	T	0.55234	0.53	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.83478	0.5263	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89014	0.3430	10	0.87932	D	0	-18.5299	19.7206	0.96142	0.0:1.0:0.0:0.0	.	179	B0YJ81	HACD1_HUMAN	K	179	ENSP00000355308:E179K	ENSP00000355308:E179K	E	-	1	0	PTPLA	17681365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.731000	0.93534	0.557000	0.71058	GAG		0.443	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1		NM_014241		17	31	0	0	0	0.007413	0	17	31		
PLXDC2	84898	broad.mit.edu	37	10	20436813	20436813	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:20436813C>T	ENST00000377252.4	+	6	1606	c.765C>T	c.(763-765)atC>atT	p.I255I	PLXDC2_ENST00000377242.3_Silent_p.I206I|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	255					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATGGACGAATCATCTTTGGAT	0.453																																						uc001iqg.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(763-765)ATC>ATT		plexin domain containing 2 precursor							100.0	80.0	87.0					10																	20436813		2203	4300	6503	SO:0001819	synonymous_variant	84898					integral to membrane		g.chr10:20436813C>T	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.765C>T	10.37:g.20436813C>T						PLXDC2_uc001iqh.1_Silent_p.I206I|PLXDC2_uc009xkc.1_RNA	p.I255I	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			6	1402	+			255			Extracellular (Potential).		Q96E59|Q96PD9|Q96SU9	Silent	SNP	ENST00000377252.4	37	c.765C>T	CCDS7132.1																																																																																				0.453	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2		NM_032812		21	48	0	0	0	0.014323	0	21	48		
CASC10	399726	broad.mit.edu	37	10	21785724	21785724	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:21785724G>A	ENST00000377113.5	-	1	467	c.20C>T	c.(19-21)tCa>tTa	p.S7L	MIR1915_ENST00000410139.1_RNA	NM_001010911.2	NP_001010911.1	Q5T4H9	CSC10_HUMAN	cancer susceptibility candidate 10	7																	GCGCCACCCTGAGGGCTCCCG	0.647																																						uc001iqn.3		NaN																	0					0						c.(19-21)TCA>TTA		hypothetical protein LOC399726							27.0	25.0	26.0					10																	21785724		2202	4300	6502	SO:0001583	missense	399726							g.chr10:21785724G>A	BC040880	CCDS31163.1	10p12.31	2013-07-17	2013-07-17	2013-07-17	ENSG00000204682	ENSG00000204682			31448	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 114"""	C10orf114		21804547	Standard	NM_001010911		Approved	bA418C1.3	uc001iqn.4	Q5T4H9	OTTHUMG00000017795	ENST00000377113.5:c.20C>T	10.37:g.21785724G>A	ENSP00000366317:p.Ser7Leu					MIR1915_hsa-mir-1915|MI0008336_5'Flank	p.S7L	NM_001010911	NP_001010911	Q5T4H9	CJ114_HUMAN			1	490	-			7					A1L4M3	Missense_Mutation	SNP	ENST00000377113.5	37	c.20C>T	CCDS31163.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186080	0.57909	.	.	ENSG00000204682	ENST00000377113	T	0.54279	0.58	4.36	2.4	0.29515	.	.	.	.	.	T	0.33000	0.0848	N	0.14661	0.345	0.09310	N	0.999999	B	0.20550	0.046	B	0.15484	0.013	T	0.25847	-1.0120	9	0.87932	D	0	0.1503	6.8927	0.24238	0.2452:0.0:0.7548:0.0	.	7	Q5T4H9	CJ114_HUMAN	L	7	ENSP00000366317:S7L	ENSP00000366317:S7L	S	-	2	0	C10orf114	21825730	0.039000	0.19947	0.781000	0.31783	0.954000	0.61252	0.618000	0.24373	0.938000	0.37419	0.313000	0.20887	TCA		0.647	CASC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047130.2		NM_001010911		3	9	0	0	0	0.000602	0	3	9		
SKIDA1	387640	broad.mit.edu	37	10	21804624	21804624	+	Missense_Mutation	SNP	C	C	T	rs35145063		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:21804624C>T	ENST00000449193.2	-	4	4380	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	SKIDA1_ENST00000444772.3_Missense_Mutation_p.E631K	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	629						nucleus (GO:0005634)		p.E710*(2)									TCATTGCACTCGCACTTTAGC	0.393																																						uc009xkd.2		NaN																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(2128-2130)GAG>AAG		hypothetical protein LOC387640							218.0	220.0	219.0					10																	21804624		1938	4131	6069	SO:0001583	missense	387640					nucleus	nucleotide binding	g.chr10:21804624C>T	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2128G>A	10.37:g.21804624C>T	ENSP00000410041:p.Glu710Lys					uc001iqp.1_Intron	p.E710K	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	4381	-			629					B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.2128G>A	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540514	0.45176	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	6.17	6.17	0.99709	.	0.109282	0.64402	D	0.000009	T	0.44371	0.1290	L	0.34521	1.04	0.43088	D	0.994752	P	0.39601	0.68	B	0.26770	0.073	T	0.37572	-0.9700	9	0.23302	T	0.38	-0.1531	19.8676	0.96824	0.0:1.0:0.0:0.0	.	710	E9PAX1	.	K	710;631	.	ENSP00000442432:E631K	E	-	1	0	C10orf140	21844630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.042000	0.64202	2.941000	0.99782	0.655000	0.94253	GAG		0.393	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2		NM_207371		162	174	0	0	0	0.01441	0	162	174		
KIAA1217	56243	broad.mit.edu	37	10	24832553	24832553	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:24832553G>A	ENST00000376454.3	+	19	4384	c.4354G>A	c.(4354-4356)Gac>Aac	p.D1452N	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.D1135N|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1452					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGAGCCCATGGACATCCGGTC	0.458																																						uc001iru.3		NaN																	0				ovary(5)|skin(2)	7						c.(4354-4356)GAC>AAC		sickle tail isoform 1							83.0	75.0	77.0					10																	24832553		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832553G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4354G>A	10.37:g.24832553G>A	ENSP00000365637:p.Asp1452Asn					KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.D1135N|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.D288N	p.D1452N	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			19	4757	+			1452					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.4354G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907914	0.92107	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.60171	0.74;0.21	5.53	5.53	0.82687	.	0.053748	0.64402	D	0.000001	T	0.76033	0.3931	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.77032	-0.2738	10	0.62326	D	0.03	.	19.4543	0.94882	0.0:0.0:1.0:0.0	.	1135;1135;1452	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	N	1135;1452;1135;1135	ENSP00000365637:D1452N;ENSP00000365634:D1135N	ENSP00000365634:D1135N	D	+	1	0	KIAA1217	24872559	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	9.466000	0.97665	2.601000	0.87937	0.561000	0.74099	GAC		0.458	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2		NM_019590		44	46	0	0	0	0.013114	0	44	46		
ACBD5	91452	broad.mit.edu	37	10	27524079	27524079	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:27524079C>T	ENST00000375888.1	-	2	302	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	ACBD5_ENST00000396271.3_Missense_Mutation_p.E82K|RNU7-12P_ENST00000516030.1_RNA|AL160291.1_ENST00000578607.1_RNA|ACBD5_ENST00000375905.4_Missense_Mutation_p.E47K|ACBD5_ENST00000476758.1_Intron|ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000375897.3_Intron			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	80	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAGGGTCCTTCAGTTGCCTGC	0.343																																						uc010qdp.1		NaN																	0					0						c.(244-246)GAA>AAA		acyl-Coenzyme A binding domain containing 5							67.0	67.0	67.0					10																	27524079		2203	4299	6502	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27524079C>T	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.238G>A	10.37:g.27524079C>T	ENSP00000365049:p.Glu80Lys					ACBD5_uc010qdm.1_Missense_Mutation_p.E80K|ACBD5_uc010qdn.1_Intron|ACBD5_uc010qdo.1_Intron|ACBD5_uc001ito.2_Missense_Mutation_p.E47K|ACBD5_uc001itp.2_Intron|ACBD5_uc001itq.2_Intron|ACBD5_uc001itr.1_Intron	p.E82K	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN			3	435	-			80			ACB.		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.244G>A		.	.	.	.	.	.	.	.	.	.	C	21.7	4.184174	0.78677	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.59	5.59	0.84812	.	0.362874	0.31210	N	0.008056	T	0.36386	0.0965	L	0.61387	1.9	0.80722	D	1	D;P	0.54207	0.965;0.941	P;P	0.54100	0.676;0.742	T	0.02505	-1.1149	10	0.25751	T	0.34	-26.9497	10.3674	0.44033	0.1271:0.6918:0.181:0.0	.	82;80	Q5T8D3-3;B7Z2R7	.;.	K	77;82;47;80;89;47	ENSP00000379568:E82K;ENSP00000365070:E47K;ENSP00000365049:E80K;ENSP00000401591:E89K;ENSP00000393398:E47K	ENSP00000365049:E80K	E	-	1	0	ACBD5	27564085	0.967000	0.33354	1.000000	0.80357	0.998000	0.95712	1.705000	0.37867	2.788000	0.95919	0.585000	0.79938	GAA		0.343	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1		NM_145698		23	58	0	0	0	0.012319	0	23	58		
SVIL	6840	broad.mit.edu	37	10	29811369	29811369	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:29811369G>A	ENST00000355867.4	-	16	4111	c.3359C>T	c.(3358-3360)tCa>tTa	p.S1120L	SVIL_ENST00000375400.3_Missense_Mutation_p.S694L|SVIL_ENST00000535393.1_Missense_Mutation_p.S18L|SVIL_ENST00000375398.2_Missense_Mutation_p.S1120L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1120					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTTGCTGGGTGAGTCAAGAAG	0.468																																						uc001iut.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(3358-3360)TCA>TTA		supervillin isoform 2							71.0	71.0	71.0					10																	29811369		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29811369G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3359C>T	10.37:g.29811369G>A	ENSP00000348128:p.Ser1120Leu					SVIL_uc010qdw.1_Missense_Mutation_p.S18L|SVIL_uc001iuu.1_Missense_Mutation_p.S694L	p.S1120L	NM_021738	NP_068506	O95425	SVIL_HUMAN			16	4112	-		Breast(68;0.103)	1120					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.3359C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164565	0.57476	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994	T;T;T;T	0.14022	2.73;2.78;2.78;2.54	5.82	5.82	0.92795	.	0.431284	0.22393	N	0.060655	T	0.18002	0.0432	M	0.72894	2.215	0.30314	N	0.788242	B;B;B	0.31274	0.012;0.317;0.128	B;B;B	0.27380	0.029;0.067;0.079	T	0.07712	-1.0758	10	0.56958	D	0.05	-11.1485	12.8253	0.57716	0.0:0.1236:0.7481:0.1283	.	18;694;1120	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	L	694;1120;1120;18;74	ENSP00000364549:S694L;ENSP00000364547:S1120L;ENSP00000348128:S1120L;ENSP00000445472:S18L	ENSP00000348128:S1120L	S	-	2	0	SVIL	29851375	0.776000	0.28616	0.185000	0.23176	0.327000	0.28475	2.296000	0.43584	2.756000	0.94617	0.563000	0.77884	TCA		0.468	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				32	30	0	0	0	0.013726	0	32	30		
GJD4	219770	broad.mit.edu	37	10	35894525	35894525	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:35894525C>T	ENST00000321660.1	+	1	188	c.30C>T	c.(28-30)ctC>ctT	p.L10L	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	10					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TAGGGTTTCTCATCATCACAT	0.517																																						uc001iyy.1		NaN																	0				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(28-30)CTC>CTT		connexin40.1							208.0	171.0	183.0					10																	35894525		2203	4300	6503	SO:0001819	synonymous_variant	219770				cell communication	connexon complex|integral to membrane		g.chr10:35894525C>T	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.30C>T	10.37:g.35894525C>T							p.L10L	NM_153368	NP_699199	Q96KN9	CXD4_HUMAN			1	188	+			10			Cytoplasmic (Potential).		Q8N2R7	Silent	SNP	ENST00000321660.1	37	c.30C>T	CCDS7191.1																																																																																				0.517	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1		NM_153368		12	34	0	0	0	0.001855	0	12	34		
ANKRD30A	91074	broad.mit.edu	37	10	37508401	37508401	+	Missense_Mutation	SNP	C	C	T	rs549672970		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:37508401C>T	ENST00000602533.1	+	34	3692	c.3593C>T	c.(3592-3594)tCt>tTt	p.S1198F	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S1198F|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.S1317F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1254					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAACCACTTTCTGAAGCTCAA	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20731	0.0		0.0	False		,,,				2504	0.0					uc001iza.1		NaN																	0				ovary(7)|breast(1)|skin(1)	9						c.(3592-3594)TCT>TTT		ankyrin repeat domain 30A							57.0	50.0	52.0					10																	37508401		1842	4081	5923	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508401C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3593C>T	10.37:g.37508401C>T	ENSP00000473551:p.Ser1198Phe						p.S1198F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3692	+			1254					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3593C>T		.	.	.	.	.	.	.	.	.	.	c	2.678	-0.276068	0.05679	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.17370	2.28;2.28	2.91	2.0	0.26442	.	.	.	.	.	T	0.17109	0.0411	L	0.39245	1.2	0.19300	N	0.999974	D	0.54964	0.969	P	0.55749	0.783	T	0.06197	-1.0840	9	0.02654	T	1	.	4.8626	0.13592	0.0:0.7041:0.0:0.2959	.	1254	Q9BXX3	AN30A_HUMAN	F	1198;1317	ENSP00000354432:S1198F;ENSP00000363792:S1317F	ENSP00000354432:S1198F	S	+	2	0	ANKRD30A	37548407	1.000000	0.71417	0.034000	0.17996	0.005000	0.04900	2.248000	0.43160	0.431000	0.26258	-0.385000	0.06624	TCT		0.373	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997		55	43	0	0	0	0.01441	0	55	43		
BMS1	9790	broad.mit.edu	37	10	43292488	43292488	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:43292488C>T	ENST00000374518.5	+	10	1859	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	599					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S599L(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAAGCTCCTCACTCAGTGCA	0.458																																						uc001jaj.2		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1795-1797)TCA>TTA		BMS1-like, ribosome assembly protein							67.0	69.0	68.0					10																	43292488		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43292488C>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1796C>T	10.37:g.43292488C>T	ENSP00000363642:p.Ser599Leu						p.S599L	NM_014753	NP_055568	Q14692	BMS1_HUMAN			10	2154	+			599					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.1796C>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	c	8.917	0.960133	0.18507	.	.	ENSG00000165733	ENST00000374518	T	0.27104	1.69	4.68	2.74	0.32292	.	0.772618	0.12678	N	0.448225	T	0.15739	0.0379	N	0.22421	0.69	0.09310	N	1	B	0.32245	0.361	B	0.31812	0.136	T	0.23013	-1.0200	10	0.27082	T	0.32	.	7.4971	0.27496	0.1702:0.7439:0.0:0.0859	.	599	Q14692	BMS1_HUMAN	L	599	ENSP00000363642:S599L	ENSP00000363642:S599L	S	+	2	0	BMS1	42612494	0.052000	0.20516	0.008000	0.14137	0.837000	0.47467	0.858000	0.27845	0.460000	0.27045	0.549000	0.68633	TCA		0.458	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2		NM_014753		86	80	0	0	0	0.01441	0	86	80		
RET	5979	broad.mit.edu	37	10	43612094	43612094	+	Silent	SNP	C	C	T	rs587780809		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:43612094C>T	ENST00000355710.3	+	12	2431	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	RET_ENST00000340058.5_Silent_p.G733G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	733	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TAGGAGAAGGCGAATTTGGAA	0.527		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(2197-2199)GGC>GGT		ret proto-oncogene isoform a	Sunitinib(DB01268)						153.0	163.0	160.0					10																	43612094		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43612094C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2199C>T	10.37:g.43612094C>T						RET_uc001jak.1_Silent_p.G733G|RET_uc010qez.1_Silent_p.G479G	p.G733G	NM_020975	NP_066124	P07949	RET_HUMAN			12	2389	+		Ovarian(717;0.0423)	733			Protein kinase.|ATP (By similarity).|Cytoplasmic (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.2199C>T	CCDS7200.1																																																																																				0.527	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2		NM_020975		41	256	0	0	0	0.01441	0	41	256		
CSGALNACT2	55454	broad.mit.edu	37	10	43651198	43651198	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:43651198G>A	ENST00000374466.3	+	2	936	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.E201K	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	201					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGATGAACAAGAAGATGAGGA	0.363																																						uc001jan.2		NaN																	0				ovary(1)	1						c.(601-603)GAA>AAA		chondroitin sulfate							57.0	59.0	58.0					10																	43651198		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43651198G>A	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.601G>A	10.37:g.43651198G>A	ENSP00000363590:p.Glu201Lys					CSGALNACT2_uc001jam.1_Missense_Mutation_p.E201K	p.E201K	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			2	936	+			201			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.601G>A	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721634	0.48728	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.22539	1.96;1.95	5.59	5.59	0.84812	.	0.174728	0.40554	N	0.001074	T	0.24736	0.0600	L	0.56769	1.78	0.80722	D	1	B;P	0.38827	0.336;0.649	B;B	0.37833	0.259;0.23	T	0.03898	-1.0994	10	0.13108	T	0.6	-8.4669	19.5966	0.95541	0.0:0.0:1.0:0.0	.	201;201	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	K	201	ENSP00000363590:E201K;ENSP00000363588:E201K	ENSP00000363588:E201K	E	+	1	0	CSGALNACT2	42971204	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.590000	0.82653	2.633000	0.89246	0.650000	0.86243	GAA		0.363	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1		NM_018590		37	90	0	0	0	0.005524	0	37	90		
TMEM72	643236	broad.mit.edu	37	10	45430175	45430175	+	Missense_Mutation	SNP	G	G	A	rs140679942	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:45430175G>A	ENST00000544540.1	+	4	551	c.67G>A	c.(67-69)Gag>Aag	p.E23K	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	141						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						AGCTGCCCCCGAGGTGCTGGC	0.602													G|||	4	0.000798722	0.0023	0.0	5008	,	,		17307	0.0		0.0	False		,,,				2504	0.001					uc001jbn.2		NaN																	0					0						c.(421-423)GAG>AAG		transmembrane protein 72		G	LYS/GLU	6,3130		0,6,1562	83.0	88.0	86.0		421	0.7	0.0	10	dbSNP_134	86	1,7163		0,1,3581	no	missense	TMEM72	NM_001123376.1	56	0,7,5143	AA,AG,GG		0.014,0.1913,0.068	possibly-damaging	141/276	45430175	7,10293	1568	3582	5150	SO:0001583	missense	643236					integral to membrane		g.chr10:45430175G>A	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.67G>A	10.37:g.45430175G>A	ENSP00000439911:p.Glu23Lys					uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.E23K	p.E141K	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN			5	618	+			141					A1L181|Q5T740	Missense_Mutation	SNP	ENST00000544540.1	37	c.421G>A		.	.	.	.	.	.	.	.	.	.	G	9.753	1.167971	0.21621	0.001913	1.4E-4	ENSG00000187783	ENST00000389583;ENST00000544540	.	.	.	4.86	0.669	0.17918	.	0.970272	0.08478	N	0.939921	T	0.32436	0.0829	L	0.41236	1.265	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29181	-1.0020	9	0.48119	T	0.1	-9.6923	6.8165	0.23833	0.171:0.3029:0.5261:0.0	.	141	A0PK05	TMM72_HUMAN	K	141;23	.	ENSP00000374234:E141K	E	+	1	0	TMEM72	44750181	0.000000	0.05858	0.000000	0.03702	0.500000	0.33767	0.393000	0.20817	0.038000	0.15604	0.563000	0.77884	GAG		0.602	TMEM72-201	KNOWN	basic	protein_coding	protein_coding			NM_001123376		33	194	0	0	0	0.005524	0	33	194		
SYT15	83849	broad.mit.edu	37	10	46963894	46963894	+	Missense_Mutation	SNP	C	C	T	rs2484844		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:46963894C>T	ENST00000374321.4	-	7	1135	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	SYT15_ENST00000374323.4_Missense_Mutation_p.E410K|SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000374325.3_Missense_Mutation_p.E357K|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Missense_Mutation_p.E357K	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	357	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GTATCCAGCTCGGTGGCATCG	0.567																																					Ovarian(57;1152 1428 19651 37745)	uc001jea.2		NaN																	0					0						c.(1069-1071)GAG>AAG		synaptotagmin XV isoform a							143.0	144.0	144.0					10																	46963894		2145	4258	6403	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46963894C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1069G>A	10.37:g.46963894C>T	ENSP00000363441:p.Glu357Lys					SYT15_uc001jdz.2_Missense_Mutation_p.E357K|SYT15_uc001jeb.2_Missense_Mutation_p.E235K|SYT15_uc010qfp.1_RNA	p.E357K	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			7	1222	-			357			Cytoplasmic (Potential).|C2 2.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.1069G>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.486389	0.44147	.	.	ENSG00000204176	ENST00000374328;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321	T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0	4.32	3.42	0.39159	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.236909	0.43579	D	0.000548	T	0.08179	0.0204	L	0.52573	1.65	0.40248	D	0.978037	P;P	0.39903	0.587;0.694	B;B	0.34385	0.181;0.153	T	0.10222	-1.0639	10	0.06236	T	0.91	.	10.9681	0.47424	0.0:0.9041:0.0:0.0959	rs2484844	357;357	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	K	147;357;357;196;410;357	ENSP00000363448:E147K;ENSP00000363445:E357K;ENSP00000427607:E357K;ENSP00000363443:E410K;ENSP00000363441:E357K	ENSP00000363441:E357K	E	-	1	0	SYT15	46383900	0.983000	0.35010	0.748000	0.31131	0.916000	0.54674	2.496000	0.45346	1.157000	0.42530	-0.124000	0.14976	GAG		0.567	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1		NM_031912		5	96	0	0	0	0.000602	0	5	96		
GDF2	2658	broad.mit.edu	37	10	48416478	48416478	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:48416478C>G	ENST00000249598.1	-	1	375	c.216G>C	c.(214-216)ctG>ctC	p.L72L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	72					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGACCCCACTCAGGTTAAGGC	0.577																																						uc001jfa.1		NaN																	0				ovary(2)|skin(1)	3						c.(214-216)CTG>CTC		growth differentiation factor 2 precursor							83.0	76.0	78.0					10																	48416478		2203	4300	6503	SO:0001819	synonymous_variant	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48416478C>G	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.216G>C	10.37:g.48416478C>G							p.L72L	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			1	379	-			72					Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	c.216G>C	CCDS7219.1																																																																																				0.577	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1		NM_016204		18	65	0	0	0	0.008871	0	18	65		
GDF2	2658	broad.mit.edu	37	10	48416501	48416501	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:48416501C>G	ENST00000249598.1	-	1	352	c.193G>C	c.(193-195)Gat>Cat	p.D65H		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	65					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGCAGGAAATCCACCTTCACG	0.587																																						uc001jfa.1		NaN																	0				ovary(2)|skin(1)	3						c.(193-195)GAT>CAT		growth differentiation factor 2 precursor							78.0	73.0	75.0					10																	48416501		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48416501C>G	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.193G>C	10.37:g.48416501C>G	ENSP00000249598:p.Asp65His						p.D65H	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			1	356	-			65					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.193G>C	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643635	0.87859	.	.	ENSG00000128802	ENST00000249598	T	0.64438	-0.1	5.22	5.22	0.72569	Transforming growth factor-beta, N-terminal (1);	0.144053	0.64402	D	0.000007	T	0.77370	0.4120	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77768	-0.2464	10	0.52906	T	0.07	.	18.1223	0.89576	0.0:1.0:0.0:0.0	.	65	Q9UK05	GDF2_HUMAN	H	65	ENSP00000249598:D65H	ENSP00000249598:D65H	D	-	1	0	GDF2	48036507	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.591000	0.82666	2.595000	0.87683	0.655000	0.94253	GAT		0.587	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1		NM_016204		18	67	0	0	0	0.006122	0	18	67		
DKK1	22943	broad.mit.edu	37	10	54076536	54076536	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:54076536C>T	ENST00000373970.3	+	4	909	c.770C>T	c.(769-771)tCt>tTt	p.S257F	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	257	DKK-type Cys-2.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GCCAGTAATTCTTCTAGGCTT	0.403																																						uc001jjr.2		NaN																	0				ovary(1)|lung(1)|kidney(1)	3						c.(769-771)TCT>TTT		dickkopf homolog 1 precursor							85.0	83.0	84.0					10																	54076536		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54076536C>T		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.770C>T	10.37:g.54076536C>T	ENSP00000363081:p.Ser257Phe					uc001jjq.1_5'Flank|uc009xox.1_5'Flank	p.S257F	NM_012242	NP_036374	O94907	DKK1_HUMAN			4	924	+			257			DKK-type Cys-2.		B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.770C>T	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933303	0.92458	.	.	ENSG00000107984	ENST00000373970	T	0.47177	0.85	5.95	5.95	0.96441	.	0.178584	0.51477	D	0.000098	T	0.60418	0.2267	L	0.46157	1.445	0.53688	D	0.999976	D	0.67145	0.996	P	0.57548	0.823	T	0.59343	-0.7472	10	0.62326	D	0.03	.	19.9882	0.97356	0.0:1.0:0.0:0.0	.	257	O94907	DKK1_HUMAN	F	257	ENSP00000363081:S257F	ENSP00000363081:S257F	S	+	2	0	DKK1	53746542	0.966000	0.33281	1.000000	0.80357	0.985000	0.73830	4.503000	0.60407	2.824000	0.97209	0.655000	0.94253	TCT		0.403	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1				59	39	0	0	0	0.01441	0	59	39		
ARID5B	84159	broad.mit.edu	37	10	63700148	63700148	+	Silent	SNP	C	C	T	rs568931015		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:63700148C>T	ENST00000279873.7	+	3	893	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	161					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAGACGTTCTCAAGGAGAAGG	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19974	0.0		0.0	False		,,,				2504	0.0					uc001jlt.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(481-483)CTC>CTT		AT rich interactive domain 5B (MRF1-like)							68.0	62.0	64.0					10																	63700148		2203	4300	6503	SO:0001819	synonymous_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63700148C>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.483C>T	10.37:g.63700148C>T						ARID5B_uc010qil.1_Silent_p.L161L	p.L161L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			3	509	+	Prostate(12;0.016)|all_hematologic(501;0.215)		161					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	c.483C>T	CCDS31208.1																																																																																				0.418	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1		XM_084482		18	15	0	0	0	0.007413	0	18	15		
JMJD1C	221037	broad.mit.edu	37	10	64967741	64967741	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:64967741G>T	ENST00000399262.2	-	10	3906	c.3688C>A	c.(3688-3690)Cca>Aca	p.P1230T	JMJD1C_ENST00000399251.1_Missense_Mutation_p.P1011T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P1048T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P1011T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1230					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTTAAAGTTGGAGGGGAAAGA	0.468																																						uc001jmn.2		NaN																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(3688-3690)CCA>ACA		jumonji domain containing 1C isoform a							107.0	103.0	104.0					10																	64967741		1901	4131	6032	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967741G>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3688C>A	10.37:g.64967741G>T	ENSP00000382204:p.Pro1230Thr					JMJD1C_uc001jml.2_Missense_Mutation_p.P1011T|JMJD1C_uc001jmm.2_Missense_Mutation_p.P942T|JMJD1C_uc010qiq.1_Missense_Mutation_p.P1048T|JMJD1C_uc009xpi.2_Missense_Mutation_p.P1048T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.P267T	p.P1230T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			10	3988	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1230					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3688C>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625557	0.66901	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.77620	-0.77;-1.11;0.54;-0.75	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.87382	0.6163	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.87829	0.2643	10	0.72032	D	0.01	-11.5709	19.5617	0.95375	0.0:0.0:1.0:0.0	.	771;1230;1048	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	T	1230;1011;1011;1048	ENSP00000382204:P1230T;ENSP00000384990:P1011T;ENSP00000382195:P1011T;ENSP00000444682:P1048T	ENSP00000382195:P1011T	P	-	1	0	JMJD1C	64637747	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.616000	0.88540	0.467000	0.42956	CCA		0.468	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241		27	102	1	0	4.87955e-14	0.005443	5.11775e-14	27	102		
JMJD1C	221037	broad.mit.edu	37	10	64974489	64974489	+	Missense_Mutation	SNP	G	G	A	rs200836663		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:64974489G>A	ENST00000399262.2	-	8	1656	c.1438C>T	c.(1438-1440)Cct>Tct	p.P480S	JMJD1C_ENST00000399251.1_Missense_Mutation_p.P261S|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P298S|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P261S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	480					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATTCCTGAGGAAGTAAATCA	0.373																																						uc001jmn.2		NaN																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1438-1440)CCT>TCT		jumonji domain containing 1C isoform a							156.0	147.0	150.0					10																	64974489		1860	4101	5961	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64974489G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1438C>T	10.37:g.64974489G>A	ENSP00000382204:p.Pro480Ser					JMJD1C_uc001jml.2_Missense_Mutation_p.P261S|JMJD1C_uc001jmm.2_Missense_Mutation_p.P192S|JMJD1C_uc010qiq.1_Missense_Mutation_p.P298S|JMJD1C_uc009xpi.2_Missense_Mutation_p.P298S|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.P192S	p.P480S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			8	1738	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		480					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.1438C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332659	0.24167	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	6.03	5.07	0.68467	.	0.720974	0.13721	N	0.367396	T	0.04952	0.0133	N	0.01352	-0.895	0.22446	N	0.999094	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20207	-1.0282	10	0.44086	T	0.13	-3.6111	7.9627	0.30081	0.0:0.2419:0.5011:0.257	.	480;298	Q15652;A0T124	JHD2C_HUMAN;.	S	480;261;261;298	ENSP00000382204:P480S;ENSP00000384990:P261S;ENSP00000382195:P261S;ENSP00000444682:P298S	ENSP00000382195:P261S	P	-	1	0	JMJD1C	64644495	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.532000	0.36029	2.854000	0.98071	0.655000	0.94253	CCT		0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241		61	190	0	0	0	0.01441	0	61	190		
NEUROG3	50674	broad.mit.edu	37	10	71332454	71332454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:71332454C>T	ENST00000242462.4	-	2	375	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	116	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						AGCTTCGCGTCGTCTGGGAAG	0.622																																						uc001jpp.2		NaN																	0					0						c.(346-348)GAC>AAC		neurogenin 3							89.0	68.0	75.0					10																	71332454		2203	4300	6503	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332454C>T	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.346G>A	10.37:g.71332454C>T	ENSP00000242462:p.Asp116Asn						p.D116N	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN			2	504	-			116			Helix-loop-helix motif.		Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.346G>A	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667335	0.67814	.	.	ENSG00000122859	ENST00000242462	D	0.97811	-4.55	4.62	4.62	0.57501	Helix-loop-helix DNA-binding (5);	0.000000	0.42964	D	0.000635	D	0.95608	0.8572	L	0.43554	1.36	0.80722	D	1	B	0.28291	0.206	B	0.26770	0.073	D	0.94915	0.8068	10	0.87932	D	0	-21.6992	16.1999	0.82063	0.0:1.0:0.0:0.0	.	116	Q9Y4Z2	NGN3_HUMAN	N	116	ENSP00000242462:D116N	ENSP00000242462:D116N	D	-	1	0	NEUROG3	71002460	1.000000	0.71417	0.934000	0.37439	0.432000	0.31715	4.713000	0.61895	2.355000	0.79922	0.655000	0.94253	GAC		0.622	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1		NM_020999		7	21	0	0	0	0.001984	0	7	21		
TYSND1	219743	broad.mit.edu	37	10	71902546	71902546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:71902546G>A	ENST00000287078.6	-	3	1360	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_Intron	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	454	Serine protease.				protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						AAGGATGCCTGAGGTCACCGA	0.642																																						uc001jqr.2		NaN																	0				large_intestine(1)	1						c.(1360-1362)TCA>TTA		trypsin domain containing 1 isoform a							66.0	52.0	57.0					10																	71902546		2203	4300	6503	SO:0001583	missense	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71902546G>A	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1361C>T	10.37:g.71902546G>A	ENSP00000287078:p.Ser454Leu					TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron	p.S454L	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN			3	1515	-			454			Serine protease.		Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	c.1361C>T	CCDS31213.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421658	0.62622	.	.	ENSG00000156521	ENST00000287078	D	0.88124	-2.34	5.21	5.21	0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.342200	0.27084	N	0.021020	T	0.82001	0.4942	L	0.28504	0.86	0.80722	D	1	P	0.43578	0.811	B	0.40825	0.341	D	0.83398	0.0021	10	0.48119	T	0.1	-6.8444	16.2813	0.82687	0.0:0.0:1.0:0.0	.	454	Q2T9J0	TYSD1_HUMAN	L	454	ENSP00000287078:S454L	ENSP00000287078:S454L	S	-	2	0	TYSND1	71572552	1.000000	0.71417	0.959000	0.39883	0.613000	0.37349	4.041000	0.57339	2.710000	0.92621	0.591000	0.81541	TCA		0.642	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1		NM_173555		6	20	0	0	0	0.001168	0	6	20		
SLC29A3	55315	broad.mit.edu	37	10	73082533	73082533	+	Missense_Mutation	SNP	G	G	A	rs558547846		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:73082533G>A	ENST00000373189.5	+	2	74	c.22G>A	c.(22-24)Gac>Aac	p.D8N	snoU13_ENST00000459444.1_RNA	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	8					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CTCAGAGGACGACTTTCAGCA	0.597																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	uc001jrr.3		NaN																	0					0						c.(22-24)GAC>AAC		solute carrier family 29 (nucleoside							133.0	133.0	133.0					10																	73082533		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73082533G>A	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.22G>A	10.37:g.73082533G>A	ENSP00000362285:p.Asp8Asn					SLC29A3_uc001jrs.3_Missense_Mutation_p.D8N|SLC29A3_uc010qjq.1_5'UTR|SLC29A3_uc001jrt.3_5'UTR|SLC29A3_uc001jru.3_5'UTR	p.D8N	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN			2	79	+			8			Cytoplasmic (Potential).		B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.22G>A	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	G	3.599	-0.081916	0.07141	.	.	ENSG00000198246	ENST00000373189	T	0.56103	0.48	5.35	-2.35	0.06684	.	1.387040	0.04324	N	0.351160	T	0.39489	0.1080	L	0.36672	1.1	0.22266	N	0.99925	B	0.02656	0.0	B	0.01281	0.0	T	0.20940	-1.0260	9	0.18276	T	0.48	-4.7509	8.0069	0.30329	0.6249:0.0:0.2606:0.1146	.	8	Q9BZD2	S29A3_HUMAN	N	8	ENSP00000362285:D8N	ENSP00000362285:D8N	D	+	1	0	SLC29A3	72752539	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.283000	0.18846	-0.372000	0.07992	-0.143000	0.13931	GAC		0.597	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1		NM_018344		22	85	0	0	0	0.00278	0	22	85		
NDST2	8509	broad.mit.edu	37	10	75567514	75567514	+	Silent	SNP	G	G	C	rs528378632		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:75567514G>C	ENST00000309979.6	-	3	1189	c.633C>G	c.(631-633)ctC>ctG	p.L211L	RP11-574K11.31_ENST00000603027.1_Silent_p.L211L|NDST2_ENST00000398701.2_5'Flank|NDST2_ENST00000299641.4_Silent_p.L88L			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	211	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TGGGGCGTGTGAGATGCAGTA	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18420	0.0		0.0	False		,,,				2504	0.0					uc001jvk.2		NaN																	0				ovary(1)	1						c.(631-633)CTC>CTG		heparan glucosaminyl							68.0	65.0	66.0					10																	75567514		2203	4300	6503	SO:0001819	synonymous_variant	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75567514G>C	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.633C>G	10.37:g.75567514G>C						NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Silent_p.L88L|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Silent_p.L88L	p.L211L	NM_003635	NP_003626	P52849	NDST2_HUMAN			3	1437	-	Prostate(51;0.0112)		211			Lumenal (Potential).|Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Silent	SNP	ENST00000309979.6	37	c.633C>G	CCDS7335.1																																																																																				0.552	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1		NM_003635		9	42	0	0	0	0.004482	0	9	42		
ADK	132	broad.mit.edu	37	10	75960592	75960592	+	Missense_Mutation	SNP	G	G	A	rs375984437		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:75960592G>A	ENST00000286621.2	+	2	186	c.136G>A	c.(136-138)Gat>Aat	p.D46N	ADK_ENST00000372734.3_Missense_Mutation_p.D29N|ADK_ENST00000539909.1_Missense_Mutation_p.D46N|ADK_ENST00000541550.1_Missense_Mutation_p.D29N	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	46					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	AGATTTCCTTGATAAGTAAGT	0.328																																						uc001jwi.2		NaN																	0				ovary(1)|skin(1)	2						c.(136-138)GAT>AAT		adenosine kinase isoform b	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	98.0	91.0	93.0		85,85,136,136	4.2	1.0	10		93	0,8596		0,0,4298	no	missense,missense,missense,missense	ADK	NM_001123.3,NM_001202449.1,NM_001202450.1,NM_006721.3	23,23,23,23	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	29/346,29/328,46/306,46/363	75960592	1,13001	2203	4298	6501	SO:0001583	missense	132				purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor	g.chr10:75960592G>A	U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"""adenosine 5'-phosphotransferase"""	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.136G>A	10.37:g.75960592G>A	ENSP00000286621:p.Asp46Asn					ADK_uc010qlb.1_Missense_Mutation_p.D46N|ADK_uc001jwj.2_Missense_Mutation_p.D29N|ADK_uc010qlc.1_Missense_Mutation_p.D29N	p.D46N	NM_006721	NP_006712	P55263	ADK_HUMAN			2	208	+	Prostate(51;0.0112)|Ovarian(15;0.148)		46					B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Missense_Mutation	SNP	ENST00000286621.2	37	c.136G>A	CCDS7343.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119660	0.77323	2.27E-4	0.0	ENSG00000156110	ENST00000539909;ENST00000286621;ENST00000372734;ENST00000541550	T;T;T;D	0.88431	-1.05;-1.05;-1.05;-2.38	6.05	4.2	0.49525	Carbohydrate/purine kinase (1);	0.053624	0.64402	D	0.000001	D	0.87931	0.6302	L	0.59436	1.845	0.58432	D	0.999997	B;B;P;B	0.43431	0.358;0.006;0.807;0.003	B;B;P;B	0.45474	0.289;0.057;0.482;0.01	D	0.85639	0.1275	10	0.41790	T	0.15	-6.2558	11.3618	0.49648	0.0691:0.1271:0.8038:0.0	.	29;46;29;46	B7Z800;B7Z783;Q5JQ10;P55263	.;.;.;ADK_HUMAN	N	46;46;29;29	ENSP00000443965:D46N;ENSP00000286621:D46N;ENSP00000361819:D29N;ENSP00000438321:D29N	ENSP00000286621:D46N	D	+	1	0	ADK	75630598	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.970000	0.76099	0.887000	0.36136	-0.172000	0.13284	GAT		0.328	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1		NM_001123, NM_006721		13	42	0	0	0	0.001855	0	13	42		
WAPAL	23063	broad.mit.edu	37	10	88260375	88260375	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:88260375C>T	ENST00000298767.5	-	3	1097	c.625G>A	c.(625-627)Gat>Aat	p.D209N		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	209	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCCAAGTATCATTTGTTTCC	0.378																																						uc001kdo.2		NaN																	0				ovary(1)	1						c.(625-627)GAT>AAT		wings apart-like homolog							169.0	169.0	169.0					10																	88260375		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88260375C>T	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.625G>A	10.37:g.88260375C>T	ENSP00000298767:p.Asp209Asn					WAPAL_uc001kdn.2_Missense_Mutation_p.D252N|WAPAL_uc009xsw.2_Missense_Mutation_p.D209N	p.D209N	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			3	1067	-			209			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.625G>A	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564160	0.65651	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.53206	0.63	5.93	5.93	0.95920	.	0.276671	0.35320	N	0.003291	T	0.43656	0.1257	L	0.34521	1.04	0.80722	D	1	B;B;P	0.36535	0.421;0.421;0.557	B;B;B	0.41860	0.112;0.147;0.368	T	0.36407	-0.9749	10	0.51188	T	0.08	.	13.5336	0.61635	0.0:0.9291:0.0:0.0709	.	209;209;252	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	N	294;209;294	ENSP00000298767:D209N	ENSP00000298767:D209N	D	-	1	0	WAPAL	88250355	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	6.013000	0.70776	2.798000	0.96311	0.655000	0.94253	GAT		0.378	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2		NM_015045		41	138	0	0	0	0.007835	0	41	138		
LDB3	11155	broad.mit.edu	37	10	88439133	88439133	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:88439133G>A	ENST00000361373.4	+	2	124	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	LDB3_ENST00000263066.6_Missense_Mutation_p.G35S|LDB3_ENST00000542786.1_Missense_Mutation_p.G35S|LDB3_ENST00000310944.6_Missense_Mutation_p.G35S|LDB3_ENST00000429277.2_Missense_Mutation_p.G35S|LDB3_ENST00000458213.2_Missense_Mutation_p.G35S|LDB3_ENST00000372066.3_Missense_Mutation_p.G35S|LDB3_ENST00000372056.4_Missense_Mutation_p.G35S|LDB3_ENST00000352360.5_Missense_Mutation_p.G35S	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GATCACACCAGGCAGCAAGGC	0.587																																						uc001kdv.2		NaN																	0				ovary(1)	1						c.(103-105)GGC>AGC		LIM domain binding 3 isoform 1							99.0	78.0	85.0					10																	88439133		2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88439133G>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.103G>A	10.37:g.88439133G>A	ENSP00000355296:p.Gly35Ser					LDB3_uc010qml.1_Missense_Mutation_p.G35S|LDB3_uc010qmm.1_Missense_Mutation_p.G35S|LDB3_uc001kdu.2_Missense_Mutation_p.G35S|LDB3_uc009xsz.2_5'UTR|LDB3_uc001kdr.2_Missense_Mutation_p.G35S|LDB3_uc009xsy.2_Missense_Mutation_p.G35S|LDB3_uc001kds.2_Missense_Mutation_p.G35S|LDB3_uc001kdt.2_RNA	p.G35S	NM_007078	NP_009009	O75112	LDB3_HUMAN			2	126	+			35			PDZ.			Missense_Mutation	SNP	ENST00000361373.4	37	c.103G>A	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	G	36	5.677190	0.96764	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.56	5.56	0.83823	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.71375	0.3332	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999;1.0;0.996	T	0.76307	-0.3007	9	0.87932	D	0	.	19.5187	0.95176	0.0:0.0:1.0:0.0	.	35;35;35;35;35;35;35	B4E3K3;F5H0C2;O75112-4;O75112;O75112-2;O75112-5;O75112-6	.;.;.;LDB3_HUMAN;.;.;.	S	35	ENSP00000401437:G35S;ENSP00000409148:G35S;ENSP00000263067:G35S;ENSP00000361136:G35S;ENSP00000263066:G35S;ENSP00000361126:G35S;ENSP00000311913:G35S;ENSP00000355296:G35S;ENSP00000438866:G35S	ENSP00000263066:G35S	G	+	1	0	LDB3	88429113	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	8.004000	0.88535	2.619000	0.88677	0.491000	0.48974	GGC		0.587	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2				26	27	0	0	0	0.005443	0	26	27		
MMRN2	79812	broad.mit.edu	37	10	88696506	88696506	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:88696506C>T	ENST00000372027.5	-	7	3165	c.2844G>A	c.(2842-2844)aaG>aaA	p.K948K		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	948	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GGGTTCAGGTCTTAAACATCA	0.552																																						uc001kea.2		NaN																	0				large_intestine(1)	1						c.(2842-2844)AAG>AAA		multimerin 2 precursor							84.0	96.0	92.0					10																	88696506		2203	4300	6503	SO:0001819	synonymous_variant	79812					extracellular space		g.chr10:88696506C>T	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2844G>A	10.37:g.88696506C>T						MMRN2_uc010qmn.1_Silent_p.K591K	p.K948K	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN			7	2971	-			948			C1q.		Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	c.2844G>A	CCDS7379.1																																																																																				0.552	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2		NM_024756		87	65	0	0	0	0.01441	0	87	65		
HTR7	3363	broad.mit.edu	37	10	92617043	92617043	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:92617043G>C	ENST00000336152.3	-	1	412	c.386C>G	c.(385-387)tCg>tGg	p.S129W	HTR7_ENST00000371719.2_Missense_Mutation_p.S129W|HTR7_ENST00000277874.6_Missense_Mutation_p.S129W|HTR7_ENST00000371721.3_Missense_Mutation_p.S129W	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	129					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CACAGCCACCGAGAGGTCGGC	0.597																																						uc001kha.2		NaN																	0				ovary(1)	1						c.(385-387)TCG>TGG		5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						62.0	60.0	61.0					10																	92617043		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92617043G>C	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.386C>G	10.37:g.92617043G>C	ENSP00000337949:p.Ser129Trp					HTR7_uc001kgz.2_Missense_Mutation_p.S129W|HTR7_uc001khb.2_Missense_Mutation_p.S129W	p.S129W	NM_019859	NP_062873	P34969	5HT7R_HUMAN			1	629	-			129			Helical; Name=2; (By similarity).		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.386C>G	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995413	0.74703	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.07	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.139132	0.50627	D	0.000103	T	0.38639	0.1048	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.34775	-0.9815	10	0.72032	D	0.01	.	14.589	0.68351	0.0:0.0:0.8526:0.1474	.	129;129	P34969;P34969-2	5HT7R_HUMAN;.	W	129	ENSP00000337949:S129W;ENSP00000277874:S129W;ENSP00000360784:S129W;ENSP00000360786:S129W	ENSP00000277874:S129W	S	-	2	0	HTR7	92607023	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	8.052000	0.89448	1.087000	0.41251	0.462000	0.41574	TCG		0.597	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1		NM_000872		10	48	0	0	0	0.008291	0	10	48		
PDE6C	5146	broad.mit.edu	37	10	95400233	95400233	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:95400233G>C	ENST00000371447.3	+	13	1794	c.1656G>C	c.(1654-1656)gtG>gtC	p.V552V		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	552					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	TGTACACTGTGAGGAAAGGGT	0.448																																						uc001kiu.3		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1654-1656)GTG>GTC		phosphodiesterase 6C							172.0	153.0	159.0					10																	95400233		2203	4300	6503	SO:0001819	synonymous_variant	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95400233G>C	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1656G>C	10.37:g.95400233G>C							p.V552V	NM_006204	NP_006195	P51160	PDE6C_HUMAN			13	1794	+		Colorectal(252;0.123)	552					A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	37	c.1656G>C	CCDS7429.1																																																																																				0.448	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1		NM_006204		40	113	0	0	0	0.00874	0	40	113		
CYP2C9	1559	broad.mit.edu	37	10	96698472	96698472	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:96698472C>G	ENST00000260682.6	+	1	45	c.33C>G	c.(31-33)ctC>ctG	p.L11L	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	11					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGCTCTGTCTCTCATGTTTGC	0.478																																					Ovarian(54;1266 1406 16072 35076)	uc001kka.3		NaN																	0				skin(4)|ovary(2)	6						c.(31-33)CTC>CTG		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						289.0	272.0	278.0					10																	96698472		2203	4300	6503	SO:0001819	synonymous_variant	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96698472C>G	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.33C>G	10.37:g.96698472C>G						CYP2C9_uc009xut.2_Silent_p.L11L|CYP2C9_uc001kjz.2_Silent_p.L11L	p.L11L	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	1	58	+		Colorectal(252;0.0902)	11					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Silent	SNP	ENST00000260682.6	37	c.33C>G	CCDS7437.1																																																																																				0.478	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1		NM_000771		171	160	0	0	0	0.01441	0	171	160		
ENTPD1	953	broad.mit.edu	37	10	97607265	97607265	+	Silent	SNP	C	C	T	rs199648967	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:97607265C>T	ENST00000371205.4	+	7	1159	c.876C>T	c.(874-876)aaC>aaT	p.N292N	RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Silent_p.N299N|ENTPD1_ENST00000543964.1_Silent_p.N184N|ENTPD1_ENST00000371207.3_Silent_p.N304N|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Silent_p.N154N|ENTPD1_ENST00000371203.5_Silent_p.N154N			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	292					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGGTAGTGAACGTAAGTGACC	0.418													C|||	3	0.000599042	0.0	0.0	5008	,	,		20532	0.003		0.0	False		,,,				2504	0.0					uc001klh.3		NaN																	0				ovary(3)	3						c.(874-876)AAC>AAT		ectonucleoside triphosphate diphosphohydrolase 1							130.0	126.0	127.0					10																	97607265		2203	4300	6503	SO:0001819	synonymous_variant	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97607265C>T	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.876C>T	10.37:g.97607265C>T						ENTPD1_uc001kli.3_Silent_p.N299N|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Silent_p.N304N|ENTPD1_uc010qok.1_Silent_p.N184N|ENTPD1_uc010qol.1_Silent_p.N184N|ENTPD1_uc010qom.1_Intron|ENTPD1_uc010qon.1_Silent_p.N154N|ENTPD1_uc009xva.2_Silent_p.N154N|ENTPD1_uc009xuz.2_Intron	p.N292N	NM_001776	NP_001767	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	7	1200	+		Colorectal(252;0.0821)	292			Extracellular (Potential).		A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	c.876C>T	CCDS7444.1																																																																																				0.418	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1		NM_001776		35	100	0	0	0	0.003271	0	35	100		
BLNK	29760	broad.mit.edu	37	10	97964290	97964290	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:97964290C>T	ENST00000224337.5	-	12	1041	c.900G>A	c.(898-900)caG>caA	p.Q300Q	BLNK_ENST00000427367.2_Silent_p.Q300Q|BLNK_ENST00000371176.2_Silent_p.Q277Q|BLNK_ENST00000413476.2_Silent_p.Q300Q	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	300					B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ATTCTTACTTCTGGGCAGGAG	0.448																																						uc001kls.3		NaN																	0				skin(2)	2						c.(898-900)CAG>CAA		B-cell linker isoform 1							135.0	125.0	128.0					10																	97964290		2203	4300	6503	SO:0001819	synonymous_variant	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:97964290C>T	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.900G>A	10.37:g.97964290C>T						BLNK_uc001kme.3_Silent_p.Q195Q|BLNK_uc001klt.3_Silent_p.Q191Q|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Silent_p.Q218Q|BLNK_uc001klv.3_Silent_p.Q195Q|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Silent_p.Q277Q|BLNK_uc001kly.3_Silent_p.Q300Q|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Silent_p.Q277Q|BLNK_uc001kmb.3_Silent_p.Q96Q|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Silent_p.Q218Q|BLNK_uc009xvd.2_RNA	p.Q300Q	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	12	1078	-		Colorectal(252;0.083)	300					O75498|O75499|Q2MD49	Silent	SNP	ENST00000224337.5	37	c.900G>A	CCDS7446.1																																																																																				0.448	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1		NM_013314		46	69	0	0	0	0.01441	0	46	69		
TLL2	7093	broad.mit.edu	37	10	98144396	98144396	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:98144396G>A	ENST00000357947.3	-	16	2367	c.2142C>T	c.(2140-2142)ttC>ttT	p.F714F		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	714	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGTCGGACTTGAACTCCACGC	0.637																																						uc001kml.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2140-2142)TTC>TTT		tolloid-like 2 precursor							167.0	153.0	158.0					10																	98144396		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98144396G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2142C>T	10.37:g.98144396G>A							p.F714F	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	16	2368	-		Colorectal(252;0.0846)	714			CUB 3.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.2142C>T	CCDS7449.1																																																																																				0.637	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1				29	83	0	0	0	0.009535	0	29	83		
TM9SF3	56889	broad.mit.edu	37	10	98336574	98336574	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:98336574C>G	ENST00000371142.4	-	2	331	c.115G>C	c.(115-117)Gag>Cag	p.E39Q		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	39						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ACAACTTCCTCTTTATCTTGA	0.313																																						uc001kmm.3		NaN																	0					0						c.(115-117)GAG>CAG		transmembrane 9 superfamily member 3 precursor							80.0	78.0	78.0					10																	98336574		2203	4300	6503	SO:0001583	missense	56889					integral to membrane	binding	g.chr10:98336574C>G	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.115G>C	10.37:g.98336574C>G	ENSP00000360184:p.Glu39Gln					TM9SF3_uc010qot.1_Missense_Mutation_p.E39Q	p.E39Q	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	332	-		Colorectal(252;0.158)	39					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	c.115G>C	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746391	0.89663	.	.	ENSG00000077147	ENST00000371142	T	0.54866	0.55	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	P	0.61132	0.884	T	0.64702	-0.6345	10	0.41790	T	0.15	-12.6055	18.8941	0.92416	0.0:1.0:0.0:0.0	.	39	Q9HD45	TM9S3_HUMAN	Q	39	ENSP00000360184:E39Q	ENSP00000360184:E39Q	E	-	1	0	TM9SF3	98326564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.365000	0.79537	2.693000	0.91896	0.655000	0.94253	GAG		0.313	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2		NM_020123		24	62	0	0	0	0.00333	0	24	62		
LOXL4	84171	broad.mit.edu	37	10	100022549	100022549	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:100022549G>A	ENST00000260702.3	-	2	378	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	76	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		AGGCAGCTTCGAAGCCCAGCT	0.622											OREG0020428	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kpa.1		NaN																	0				ovary(3)|breast(1)|skin(1)	5						c.(226-228)TTC>TTT		lysyl oxidase-like 4 precursor							52.0	53.0	52.0					10																	100022549		2202	4298	6500	SO:0001819	synonymous_variant	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100022549G>A	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.228C>T	10.37:g.100022549G>A			OREG0020428	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1348		p.F76F	NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	2	379	-		Colorectal(252;0.234)	76			SRCR 1.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	ENST00000260702.3	37	c.228C>T	CCDS7473.1																																																																																				0.622	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1		NM_032211		31	27	0	0	0	0.010818	0	31	27		
CUTC	51076	broad.mit.edu	37	10	101514304	101514304	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:101514304G>T	ENST00000370476.5	+	8	749	c.620G>T	c.(619-621)aGa>aTa	p.R207I		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	207					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		ATAACAGACAGAAATCTACAA	0.363																																						uc001kqd.3		NaN																	0				breast(1)	1						c.(619-621)AGA>ATA		cutC copper transporter homolog							220.0	240.0	233.0					10																	101514304		2203	4300	6503	SO:0001583	missense	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101514304G>T	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.620G>T	10.37:g.101514304G>T	ENSP00000359507:p.Arg207Ile					CUTC_uc001kqe.3_RNA	p.R207I	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	8	768	+		Colorectal(252;0.234)	207					Q5TCZ8|Q9Y321	Missense_Mutation	SNP	ENST00000370476.5	37	c.620G>T	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899112	0.52227	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	5.31	2.45	0.29901	Copper homeostasis CutC domain (2);	0.093059	0.64402	D	0.000001	T	0.59155	0.2173	M	0.72118	2.19	0.80722	D	1	B	0.09022	0.002	B	0.18263	0.021	T	0.56263	-0.8008	9	0.66056	D	0.02	-7.5594	9.8698	0.41166	0.2261:0.0:0.7739:0.0	.	207	Q9NTM9	CUTC_HUMAN	I	207;144	.	ENSP00000359503:R144I	R	+	2	0	CUTC	101504294	1.000000	0.71417	0.973000	0.42090	0.978000	0.69477	5.850000	0.69473	0.233000	0.21120	-0.897000	0.02905	AGA		0.363	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1		NM_015960		81	221	1	0	2.80266e-47	0.01441	2.98126e-47	81	221		
ABCC2	1244	broad.mit.edu	37	10	101594192	101594192	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:101594192G>A	ENST00000370449.4	+	24	3427	c.3314G>A	c.(3313-3315)tGc>tAc	p.C1105Y		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1105	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGGATTACATGCTTCCTGGGG	0.473																																						uc001kqf.2		NaN																	0				ovary(1)	1						c.(3313-3315)TGC>TAC		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						334.0	248.0	277.0					10																	101594192		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101594192G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3314G>A	10.37:g.101594192G>A	ENSP00000359478:p.Cys1105Tyr						p.C1105Y	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	24	3453	+		Colorectal(252;0.234)	1105			ABC transmembrane type-1 2.|Helical; Name=14; (By similarity).		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3314G>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	7.703	0.693440	0.15039	.	.	ENSG00000023839	ENST00000370449	D	0.88818	-2.43	5.27	3.42	0.39159	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.89810	0.3981	10	0.21014	T	0.42	0.0337	11.9549	0.52976	0.1426:0.0:0.8574:0.0	.	1105	Q92887	MRP2_HUMAN	Y	1105	ENSP00000359478:C1105Y	ENSP00000359478:C1105Y	C	+	2	0	ABCC2	101584182	1.000000	0.71417	0.015000	0.15790	0.191000	0.23601	4.572000	0.60886	0.605000	0.29947	0.505000	0.49811	TGC		0.473	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1		NM_000392		87	96	0	0	0	0.01441	0	87	96		
CHUK	1147	broad.mit.edu	37	10	101959727	101959727	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:101959727C>T	ENST00000370397.7	-	16	1816		c.e16+1			NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AAGTGTCTTACCTGAAGGTCT	0.348																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.e16+1		conserved helix-loop-helix ubiquitous kinase							185.0	179.0	181.0					10																	101959727		2203	4300	6503	SO:0001630	splice_region_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101959727C>T	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1729+1G>A	10.37:g.101959727C>T							p.D577_splice	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	16	1784	-		Colorectal(252;0.117)						O14666|Q13132|Q5W0I4|Q92467	Splice_Site	SNP	ENST00000370397.7	37	c.1729_splice	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713069	0.68730	.	.	ENSG00000213341	ENST00000370397	.	.	.	5.0	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1947	0.48707	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	CHUK	101949717	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.546000	0.67243	1.132000	0.42129	0.461000	0.40582	.		0.348	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1		NM_001278	Intron	24	96	0	0	0	0.014323	0	24	96		
MRPL43	84545	broad.mit.edu	37	10	102746534	102746534	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:102746534C>T	ENST00000318325.2	-	3	490	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	MRPL43_ENST00000370242.4_Missense_Mutation_p.R146Q|C10orf2_ENST00000370228.1_5'Flank|MRPL43_ENST00000370234.4_Missense_Mutation_p.R146Q|MRPL43_ENST00000477279.1_3'UTR|MRPL43_ENST00000299179.5_Missense_Mutation_p.R146Q|MRPL43_ENST00000370241.3_Missense_Mutation_p.R146Q|MRPL43_ENST00000318364.8_Missense_Mutation_p.R146Q|RP11-108L7.4_ENST00000447344.1_RNA|C10orf2_ENST00000311916.2_5'Flank|MRPL43_ENST00000493646.1_5'UTR|MRPL43_ENST00000342071.1_Missense_Mutation_p.R146Q|MRPL43_ENST00000370236.1_Missense_Mutation_p.R146Q	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	146					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		CTGAACCTCTCGGGGGCGTAG	0.627																																						uc001kry.1		NaN																	0				skin(1)	1						c.(436-438)CGA>CAA		mitochondrial ribosomal protein L43 isoform b							84.0	77.0	79.0					10																	102746534		2203	4300	6503	SO:0001583	missense	84545				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr10:102746534C>T	AB049656	CCDS7502.1, CCDS7503.1, CCDS7504.1, CCDS7505.1	10q24.31	2012-09-13			ENSG00000055950	ENSG00000055950		"""Mitochondrial ribosomal proteins / large subunits"""	14517	protein-coding gene	gene with protein product		611848					Standard	NM_176792		Approved	bMRP36a	uc001ksa.1	Q8N983	OTTHUMG00000018920	ENST00000318325.2:c.437G>A	10.37:g.102746534C>T	ENSP00000315364:p.Arg146Gln					MRPL43_uc010qpu.1_Missense_Mutation_p.R146Q|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Missense_Mutation_p.R146Q|MRPL43_uc001ksb.1_Missense_Mutation_p.R146Q|MRPL43_uc001ksd.1_Missense_Mutation_p.R146Q|MRPL43_uc001ksc.2_Missense_Mutation_p.R146Q|MRPL43_uc001kse.2_Missense_Mutation_p.R184Q|C10orf2_uc001ksg.2_5'Flank|C10orf2_uc001ksf.2_5'Flank|C10orf2_uc001ksi.2_5'Flank|C10orf2_uc010qpv.1_5'Flank|C10orf2_uc001ksh.2_5'Flank	p.R146Q	NM_176792	NP_789762	Q8N983	RM43_HUMAN		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)	3	509	-		Colorectal(252;0.234)	146					B1AL06|B1AL07|B1AL09|B1AL10|C9J5Q3|D3DR71|Q5JW06|Q7Z719|Q7Z7H6|Q86XN1|Q9BYC7	Missense_Mutation	SNP	ENST00000318325.2	37	c.437G>A	CCDS7502.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.45|18.45	3.627467|3.627467	0.66901|0.66901	.|.	.|.	ENSG00000055950|ENSG00000055950	ENST00000448244|ENST00000318325;ENST00000370241;ENST00000370242;ENST00000299179;ENST00000342071;ENST00000370236;ENST00000318364;ENST00000370234	.|.	.|.	.|.	5.33|5.33	4.42|4.42	0.53409|0.53409	.|.	.|0.889113	.|0.09927	.|N	.|0.737644	T|T	0.15825|0.15825	0.0381|0.0381	N|N	0.11560|0.11560	0.145|0.145	0.29302|0.29302	N|N	0.868625|0.868625	.|P;P;B;P;P;P;P	.|0.50272	.|0.89;0.703;0.248;0.803;0.933;0.513;0.513	.|B;B;B;B;B;B;B	.|0.36922	.|0.119;0.029;0.024;0.064;0.236;0.033;0.048	T|T	0.01102|0.01102	-1.1451|-1.1451	5|9	.|0.33940	.|T	.|0.23	-17.6509|-17.6509	10.7683|10.7683	0.46308|0.46308	0.0:0.911:0.0:0.089|0.0:0.911:0.0:0.089	.|.	.|146;146;146;146;146;146;146	.|B1AL06;B1AL05;Q8N983-4;Q8N983-3;Q8N983-2;C9J5Q3;Q8N983	.|.;.;.;.;.;.;RM43_HUMAN	K|Q	143|146	.|.	.|ENSP00000299179:R146Q	E|R	-|-	1|2	0|0	MRPL43|MRPL43	102736524|102736524	0.964000|0.964000	0.33143|0.33143	0.971000|0.971000	0.41717|0.41717	0.086000|0.086000	0.17979|0.17979	1.878000|1.878000	0.39608|0.39608	2.667000|2.667000	0.90743|0.90743	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.627	MRPL43-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049902.1				12	39	0	0	0	0.001855	0	12	39		
KCNIP2	30819	broad.mit.edu	37	10	103588903	103588903	+	Silent	SNP	G	G	A	rs200389374		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:103588903G>A	ENST00000356640.2	-	4	552	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	KCNIP2_ENST00000461105.1_Silent_p.L108L|KCNIP2_ENST00000348850.5_Silent_p.L48L|KCNIP2_ENST00000343195.4_Silent_p.L43L|KCNIP2_ENST00000370046.1_Silent_p.L43L|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000358038.3_Silent_p.L75L|KCNIP2_ENST00000353068.3_Silent_p.L43L|KCNIP2_ENST00000355657.2_5'UTR	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	93	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		AGCTGCTCCAGACCCTCAGGC	0.617																																						uc001kub.2		NaN																	0					0						c.(277-279)CTG>TTG		Kv channel interacting protein 2 isoform 2							80.0	65.0	70.0					10																	103588903		2203	4300	6503	SO:0001819	synonymous_variant	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103588903G>A		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.277C>T	10.37:g.103588903G>A						KCNIP2_uc010qqg.1_5'Flank|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Silent_p.V14V|KCNIP2_uc001ktz.2_Silent_p.L48L|KCNIP2_uc009xwu.2_Silent_p.L43L|KCNIP2_uc009xwv.2_Silent_p.L43L|KCNIP2_uc001kuc.2_Silent_p.L108L|KCNIP2_uc001kue.2_Silent_p.L75L|KCNIP2_uc001kud.2_Silent_p.L43L|KCNIP2_uc001kuf.2_Silent_p.L43L|KCNIP2_uc001kua.2_Silent_p.V14V|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Silent_p.L48L|KCNIP2_uc010qqi.1_Silent_p.L43L	p.L93L	NM_173191	NP_775283	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	4	629	-		Colorectal(252;0.122)	93			EF-hand 1; degenerate.		A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Silent	SNP	ENST00000356640.2	37	c.277C>T	CCDS7522.1																																																																																				0.617	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1				5	22	0	0	0	0.001168	0	5	22		
CNNM2	54805	broad.mit.edu	37	10	104679815	104679815	+	Silent	SNP	C	C	T	rs369542125		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:104679815C>T	ENST00000369878.4	+	1	1766	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	CNNM2_ENST00000369875.3_Silent_p.F526F|CNNM2_ENST00000433628.2_Silent_p.F526F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	526	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTTTGTTTTCAATGACACCA	0.453																																						uc001kwm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1576-1578)TTC>TTT		cyclin M2 isoform 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	118.0	126.0	124.0		1578,1578,1578	5.6	1.0	10		124	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CNNM2	NM_017649.3,NM_199076.1,NM_199077.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	526/876,526/854,526/553	104679815	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54805				ion transport	integral to membrane		g.chr10:104679815C>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1578C>T	10.37:g.104679815C>T						CNNM2_uc001kwn.2_Silent_p.F526F|CNNM2_uc001kwl.2_Silent_p.F526F	p.F526F	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	1702	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	526			CBS 2.		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	c.1578C>T	CCDS44474.1																																																																																				0.453	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3		NM_017649		51	122	0	0	0	0.01441	0	51	122		
ADD3	120	broad.mit.edu	37	10	111881975	111881975	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:111881975G>A	ENST00000356080.4	+	9	1435	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	ADD3_ENST00000277900.8_Silent_p.V356V|ADD3_ENST00000360162.3_Silent_p.V356V	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	356						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAGGAGGTGTGAATATGGGTT	0.448																																						uc001kyt.3		NaN																	0				ovary(2)|skin(2)|large_intestine(1)	5						c.(1066-1068)GTG>GTA		adducin 3 (gamma) isoform a							155.0	139.0	145.0					10																	111881975		2203	4300	6503	SO:0001819	synonymous_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111881975G>A	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1068G>A	10.37:g.111881975G>A						ADD3_uc001kys.3_Silent_p.V356V|ADD3_uc001kyu.2_Silent_p.V356V|ADD3_uc001kyv.2_Silent_p.V356V|ADD3_uc001kyw.2_Silent_p.V356V|ADD3_uc001kyx.2_5'Flank	p.V356V	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	10	1382	+		Breast(234;0.052)|Lung NSC(174;0.223)	356					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	ENST00000356080.4	37	c.1068G>A	CCDS7561.1																																																																																				0.448	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1		NM_019903		30	70	0	0	0	0.012213	0	30	70		
ACSL5	51703	broad.mit.edu	37	10	114186017	114186017	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:114186017C>T	ENST00000393081.1	+	19	2046	c.1739C>T	c.(1738-1740)tCa>tTa	p.S580L	ACSL5_ENST00000433418.1_Splice_Site_p.S580L|ACSL5_ENST00000354655.4_Splice_Site_p.S580L|ACSL5_ENST00000354273.4_Splice_Site_p.S580L|ACSL5_ENST00000369410.3_Splice_Site_p.S362L|ACSL5_ENST00000356116.1_Splice_Site_p.S636L	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	580					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TTTCCATAGTCATCCTTAGTA	0.433																																						uc001kzs.2		NaN																	0				large_intestine(2)|skin(1)	3						c.(1738-1740)TCA>TTA		acyl-CoA synthetase long-chain family member 5							210.0	175.0	187.0					10																	114186017		2203	4300	6503	SO:0001630	splice_region_variant	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114186017C>T	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1738-1C>T	10.37:g.114186017C>T						ACSL5_uc001kzt.2_Missense_Mutation_p.S580L|ACSL5_uc001kzu.2_Missense_Mutation_p.S636L|ACSL5_uc009xxz.2_Missense_Mutation_p.S580L|ACSL5_uc010qrj.1_Missense_Mutation_p.S362L	p.S580L	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	19	1880	+		Colorectal(252;0.117)|Breast(234;0.222)	580			Cytoplasmic (Potential).		A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	c.1739C>T	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715465	0.48622	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	5.55	5.55	0.83447	.	0.127483	0.53938	D	0.000041	T	0.25717	0.0626	M	0.89658	3.05	0.80722	D	1	B;B;B;B	0.29988	0.048;0.019;0.264;0.014	B;B;B;B	0.30105	0.046;0.017;0.111;0.036	T	0.12553	-1.0543	10	0.87932	D	0	-8.0387	19.5099	0.95137	0.0:1.0:0.0:0.0	.	362;580;636;580	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	L	580;580;636;580;580;362	ENSP00000346680:S580L;ENSP00000376796:S580L;ENSP00000348429:S636L;ENSP00000403647:S580L;ENSP00000346223:S580L;ENSP00000358418:S362L	ENSP00000346223:S580L	S	+	2	0	ACSL5	114176007	1.000000	0.71417	0.939000	0.37840	0.109000	0.19521	5.649000	0.67936	2.627000	0.88993	0.561000	0.74099	TCA		0.433	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1		NM_016234	Missense_Mutation	29	81	0	0	0	0.008361	0	29	81		
NRAP	4892	broad.mit.edu	37	10	115402797	115402797	+	Splice_Site	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:115402797C>A	ENST00000359988.3	-	12	1355	c.1111G>T	c.(1111-1113)Gtg>Ttg	p.V371L	NRAP_ENST00000369360.3_Intron|NRAP_ENST00000360478.3_Intron|NRAP_ENST00000369358.4_Splice_Site_p.V371L	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTATACTCCACCTTGGAAATC	0.388																																						uc001laj.2		NaN																	0				ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(1111-1113)GTG>TTG		nebulin-related anchoring protein isoform S							157.0	139.0	145.0					10																	115402797		2203	4300	6503	SO:0001630	splice_region_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115402797C>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1111-1G>T	10.37:g.115402797C>A						NRAP_uc001lak.2_Intron|NRAP_uc001lal.3_Missense_Mutation_p.V371L	p.V371L	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	12	1275	-		Colorectal(252;0.0233)|Breast(234;0.188)	371			Nebulin 8.			Missense_Mutation	SNP	ENST00000359988.3	37	c.1111G>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721758	0.68959	.	.	ENSG00000197893	ENST00000369358;ENST00000359988;ENST00000369350;ENST00000369343	T;T	0.35236	1.32;1.32	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	M	0.80183	2.485	0.80722	D	1	D;D	0.63046	0.992;0.989	D;P	0.79108	0.992;0.896	T	0.56189	-0.8020	10	0.16420	T	0.52	.	19.8568	0.96762	0.0:1.0:0.0:0.0	.	371;371	A0AVL2;Q86VF7	.;NRAP_HUMAN	L	371;371;100;100	ENSP00000358365:V371L;ENSP00000353078:V371L	ENSP00000353078:V371L	V	-	1	0	NRAP	115392787	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.149000	0.77396	2.764000	0.94973	0.650000	0.86243	GTG		0.388	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2		NM_006175	Missense_Mutation	26	85	1	0	1.66031e-10	0.003954	1.72965e-10	26	85		
DCLRE1A	9937	broad.mit.edu	37	10	115609522	115609522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:115609522C>T	ENST00000361384.2	-	2	2259	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E448K	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	448	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GATGATTCTTCAATTACCTGT	0.388								Other identified genes with known or suspected DNA repair function																														uc001law.2		NaN																	0				skin(2)	2						c.(1342-1344)GAA>AAA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1A							64.0	62.0	63.0					10																	115609522		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115609522C>T		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1342G>A	10.37:g.115609522C>T	ENSP00000355185:p.Glu448Lys						p.E448K	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	2260	-			448			Nuclear focus formation.		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.1342G>A	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354664	0.24512	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.66460	-0.21;-0.21	6.02	3.94	0.45596	.	0.797324	0.12278	N	0.483208	T	0.58409	0.2120	L	0.52573	1.65	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.49952	-0.8884	10	0.40728	T	0.16	-4.3864	7.7235	0.28746	0.0:0.7086:0.0:0.2914	.	448	Q6PJP8	DCR1A_HUMAN	K	448	ENSP00000355185:E448K;ENSP00000358311:E448K	ENSP00000355185:E448K	E	-	1	0	DCLRE1A	115599512	0.012000	0.17670	0.011000	0.14972	0.335000	0.28730	0.048000	0.14078	1.297000	0.44761	0.650000	0.86243	GAA		0.388	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1		NM_014881		47	61	0	0	0	0.013114	0	47	61		
AFAP1L2	84632	broad.mit.edu	37	10	116062228	116062228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:116062228C>T	ENST00000304129.4	-	12	1329	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.E434K|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E487K|AFAP1L2_ENST00000491814.1_5'Flank			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	434	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGGCCCATTTCCTCGGAAGAC	0.607																																						uc001lbn.2		NaN																	0				ovary(1)|breast(1)	2						c.(1300-1302)GAA>AAA		KIAA1914 protein isoform 1							82.0	88.0	86.0					10																	116062228		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116062228C>T	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1300G>A	10.37:g.116062228C>T	ENSP00000303042:p.Glu434Lys					AFAP1L2_uc001lbo.2_Missense_Mutation_p.E434K|AFAP1L2_uc010qse.1_Missense_Mutation_p.E487K|AFAP1L2_uc001lbp.2_Missense_Mutation_p.E462K|AFAP1L2_uc001lbr.1_Missense_Mutation_p.E434K|AFAP1L2_uc001lbm.2_5'Flank|AFAP1L2_uc010qsd.1_5'UTR|AFAP1L2_uc001lbq.1_5'Flank	p.E434K	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	12	1601	-		Colorectal(252;0.175)|Breast(234;0.231)	434			PH 2.		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1300G>A	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603521	0.96626	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.17854	2.25;2.25;2.25	5.93	5.93	0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.106278	0.64402	D	0.000006	T	0.42877	0.1222	M	0.61703	1.905	0.80722	D	1	D;D;P;D;D	0.76494	0.998;0.999;0.746;0.99;0.999	D;D;P;P;D	0.72625	0.962;0.978;0.729;0.894;0.959	T	0.08911	-1.0699	10	0.66056	D	0.02	-28.2759	20.3539	0.98825	0.0:1.0:0.0:0.0	.	487;488;462;434;434	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	K	434;434;461;487	ENSP00000358276:E434K;ENSP00000303042:E434K;ENSP00000444511:E487K	ENSP00000303042:E434K	E	-	1	0	AFAP1L2	116052218	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.786000	0.85741	2.826000	0.97356	0.655000	0.94253	GAA		0.607	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1		NM_032550		22	66	0	0	0	0.005443	0	22	66		
FAM160B1	57700	broad.mit.edu	37	10	116593033	116593033	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:116593033C>T	ENST00000369248.4	+	3	501	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	FAM160B1_ENST00000369246.1_Silent_p.L56L|FAM160B1_ENST00000369250.3_Silent_p.L56L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	56										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TCCATCGCATCTGGAACAGAT	0.353																																						uc001lcb.2		NaN																	0				lung(1)	1						c.(166-168)CTG>TTG		hypothetical protein LOC57700 isoform a							77.0	76.0	76.0					10																	116593033		2203	4300	6503	SO:0001819	synonymous_variant	57700							g.chr10:116593033C>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.166C>T	10.37:g.116593033C>T						FAM160B1_uc001lcc.2_Silent_p.L56L	p.L56L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			3	501	+			56					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Silent	SNP	ENST00000369248.4	37	c.166C>T	CCDS31290.1																																																																																				0.353	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1		XM_049351		23	67	0	0	0	0.012319	0	23	67		
RAB11FIP2	22841	broad.mit.edu	37	10	119799772	119799772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:119799772G>A	ENST00000355624.3	-	2	1097	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.Q220*|RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	220					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GAGAGTCGCTGAGGACCCAAG	0.438																																						uc001ldj.1		NaN																	0					0						c.(658-660)CAG>TAG		RAB11 family interacting protein 2							184.0	187.0	186.0					10																	119799772		2203	4299	6502	SO:0001587	stop_gained	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119799772G>A	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.658C>T	10.37:g.119799772G>A	ENSP00000347839:p.Gln220*					RAB11FIP2_uc009xyz.1_Nonsense_Mutation_p.Q220*	p.Q220*	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	1098	-		Colorectal(252;0.235)	220					A6NEI4|Q3I768|Q9Y2F0	Nonsense_Mutation	SNP	ENST00000355624.3	37	c.658C>T	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	G	35	5.529441	0.96446	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	.	.	.	5.5	5.5	0.81552	.	0.297199	0.38837	N	0.001559	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-15.4352	19.7739	0.96383	0.0:0.0:1.0:0.0	.	.	.	.	X	220	.	ENSP00000347839:Q220X	Q	-	1	0	RAB11FIP2	119789762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.132000	0.94455	2.744000	0.94065	0.655000	0.94253	CAG		0.438	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1		NM_014904		27	262	0	0	0	0.004656	0	27	262		
PRDX3	10935	broad.mit.edu	37	10	120928689	120928689	+	Splice_Site	SNP	C	C	T	rs369211639		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:120928689C>T	ENST00000298510.2	-	6	759	c.717G>A	c.(715-717)acG>acA	p.T239T	PRDX3_ENST00000356951.3_Splice_Site_p.T221T|PRDX3_ENST00000494433.1_5'UTR	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	239					cellular response to oxidative stress (GO:0034599)|cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|maternal placenta development (GO:0001893)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of kinase activity (GO:0033673)|peptidyl-cysteine oxidation (GO:0018171)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of mitochondrial membrane potential (GO:0051881)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	alkyl hydroperoxide reductase activity (GO:0008785)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|kinase binding (GO:0019900)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		AAAAACCTACCGTAGGAGAAT	0.512																																					Pancreas(36;562 1096 2447 42526)	uc001lec.2		NaN																	0					0						c.(715-717)ACG>ACA		peroxiredoxin 3 isoform a precursor		C	,	1,4405	2.1+/-5.4	0,1,2202	107.0	100.0	102.0		717,663	-5.8	0.8	10		102	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	PRDX3	NM_006793.2,NM_014098.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	239/257,221/239	120928689	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	10935				cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding	g.chr10:120928689C>T	D49396	CCDS7611.1	10q25-q26	2010-11-24			ENSG00000165672	ENSG00000165672			9354	protein-coding gene	gene with protein product		604769	"""antioxidant protein 1"""	AOP1		7733872, 9363753	Standard	NM_006793		Approved	MER5, AOP-1, SP-22	uc001lec.3	P30048	OTTHUMG00000019146	ENST00000298510.2:c.717+1G>A	10.37:g.120928689C>T							p.T239T	NM_006793	NP_006784	P30048	PRDX3_HUMAN		all cancers(201;0.0245)	6	760	-		Lung NSC(174;0.094)|all_lung(145;0.123)	239					B2R7Z0|D3DRC9|E9PH29|P35690|Q0D2H1|Q13776|Q5T5V2|Q96HK4	Silent	SNP	ENST00000298510.2	37	c.717G>A	CCDS7611.1																																																																																				0.512	PRDX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050639.1		NM_006793	Silent	26	73	0	0	0	0.005443	0	26	73		
BAG3	9531	broad.mit.edu	37	10	121411190	121411190	+	Start_Codon_SNP	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:121411190G>A	ENST00000369085.3	+	1	309	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	1					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AACCCAGCATGAGCGCCGCCA	0.756																																						uc001lem.2		NaN																	0				ovary(2)	2						c.(1-3)ATG>ATA		BCL2-associated athanogene 3							16.0	17.0	16.0					10																	121411190		2190	4288	6478	SO:0001582	initiator_codon_variant	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121411190G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.3G>A	10.37:g.121411190G>A	ENSP00000358081:p.Met1Ile					BAG3_uc001lel.2_Missense_Mutation_p.M1I	p.M1I	NM_004281	NP_004272	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	1	309	+		Lung NSC(174;0.109)|all_lung(145;0.142)	1					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.3G>A	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374670	0.61735	.	.	ENSG00000151929	ENST00000369085	T	0.77489	-1.1	4.22	4.22	0.49857	.	0.238718	0.47852	D	0.000211	T	0.70020	0.3176	.	.	.	0.41035	D	0.985188	P;P	0.39809	0.689;0.689	B;B	0.31442	0.13;0.13	T	0.77536	-0.2551	9	0.87932	D	0	-15.7864	16.7562	0.85499	0.0:0.0:1.0:0.0	.	1;1	O95817;Q53GY1	BAG3_HUMAN;.	I	1	ENSP00000358081:M1I	ENSP00000358081:M1I	M	+	3	0	BAG3	121401180	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	5.133000	0.64764	2.190000	0.69967	0.484000	0.47621	ATG		0.756	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1		NM_004281	Missense_Mutation	11	6	0	0	0	0.013537	0	11	6		
FGFR2	2263	broad.mit.edu	37	10	123239498	123239498	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:123239498G>A	ENST00000358487.5	-	18	2611	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L	FGFR2_ENST00000356226.4_Missense_Mutation_p.S663L|FGFR2_ENST00000346997.2_Missense_Mutation_p.S778L|FGFR2_ENST00000478859.1_Missense_Mutation_p.S552L|FGFR2_ENST00000369061.4_Missense_Mutation_p.S668L|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.S781L|FGFR2_ENST00000369059.1_Missense_Mutation_p.S666L|FGFR2_ENST00000369060.4_Missense_Mutation_p.S664L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	780					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GTAACTAGGTGAATACTGTTC	0.443		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		0				endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(2338-2340)TCA>TTA		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						181.0	164.0	169.0					10																	123239498		2203	4300	6503	SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123239498G>A	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2339C>T	10.37:g.123239498G>A	ENSP00000351276:p.Ser780Leu					FGFR2_uc010qtg.1_Missense_Mutation_p.S668L|FGFR2_uc010qth.1_Missense_Mutation_p.S665L|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.S781L|FGFR2_uc010qtl.1_Missense_Mutation_p.S664L|FGFR2_uc010qtm.1_Missense_Mutation_p.S663L|FGFR2_uc001lfg.3_Missense_Mutation_p.S388L|FGFR2_uc001lfk.1_RNA	p.S780L	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	19	2986	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	780			Cytoplasmic (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.2339C>T	CCDS31298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.29|17.29	3.352823|3.352823	0.61293|0.61293	.|.	.|.	ENSG00000066468|ENSG00000066468	ENST00000429361|ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416	T|D;D;D;D;D;D;D	0.78816|0.84146	-1.21|-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92990|0.92990	0.7769|0.7769	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.998;0.997;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.916;0.972;0.999;0.984;0.999	D|D	0.92745|0.92745	0.6211|0.6211	7|10	0.87932|0.87932	D|D	0|0	.|.	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|797;779;663;780;683	.|D3DRD5;P21802-18;P21802-20;P21802;D3DRD3	.|.;.;.;FGFR2_HUMAN;.	Y|L	337|781;668;780;663;664;666;778;781	ENSP00000404219:H337Y|ENSP00000358057:S668L;ENSP00000351276:S780L;ENSP00000348559:S663L;ENSP00000358056:S664L;ENSP00000358055:S666L;ENSP00000263451:S778L;ENSP00000410294:S781L	ENSP00000404219:H337Y|ENSP00000263451:S778L	H|S	-|-	1|2	0|0	FGFR2|FGFR2	123229488|123229488	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.992000|0.992000	0.81027|0.81027	9.615000|9.615000	0.98356|0.98356	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CAC|TCA		0.443	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1		NM_022976, NM_000141		33	87	0	0	0	0.013726	0	33	87		
FGFR2	2263	broad.mit.edu	37	10	123325072	123325072	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:123325072C>T	ENST00000358487.5	-	3	528	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	FGFR2_ENST00000369056.1_Missense_Mutation_p.V86M|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000346997.2_Missense_Mutation_p.V86M|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Missense_Mutation_p.V86M|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.V86M|FGFR2_ENST00000359354.2_Missense_Mutation_p.V86M|FGFR2_ENST00000351936.6_Missense_Mutation_p.V86M|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.V86M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	86	Ig-like C2-type 1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CCAATAAGCACTGTCCTATTG	0.552		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		0				endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(256-258)GTG>ATG		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						191.0	161.0	171.0					10																	123325072		2203	4300	6503	SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123325072C>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.256G>A	10.37:g.123325072C>T	ENSP00000351276:p.Val86Met					FGFR2_uc010qtg.1_Missense_Mutation_p.V86M|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.V86M|FGFR2_uc010qtl.1_Missense_Mutation_p.V86M|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Missense_Mutation_p.V86M|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Missense_Mutation_p.V105M|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.V105M|FGFR2_uc010qtp.1_Missense_Mutation_p.V105M|FGFR2_uc010qtq.1_Missense_Mutation_p.V105M	p.V86M	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	3	903	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	86			Ig-like C2-type 1.|Extracellular (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.256G>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215444	0.39102	.	.	ENSG00000066468	ENST00000369062;ENST00000369061;ENST00000358487;ENST00000369060;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000369056;ENST00000369058;ENST00000359354	T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.22;-1.29;-1.22;-1.21;-1.22;-1.21;-1.21;-0.73	5.24	5.24	0.73138	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.130178	0.51477	D	0.000093	D	0.84561	0.5499	L	0.58302	1.8	0.34860	D	0.742556	P;D;B;P;P;B;P;P	0.55385	0.924;0.971;0.229;0.64;0.587;0.407;0.852;0.582	P;P;B;B;B;B;P;B	0.59595	0.835;0.86;0.145;0.285;0.188;0.285;0.579;0.275	D	0.87409	0.2374	10	0.39692	T	0.17	.	11.8084	0.52169	0.0:0.919:0.0:0.081	.	105;105;86;105;86;86;105;86	D3DRD9;D3DRD4;B5A960;D3DRD5;P21802-18;P21802;D3DRE0;P21802-17	.;.;.;.;.;FGFR2_HUMAN;.;.	M	86	ENSP00000358057:V86M;ENSP00000351276:V86M;ENSP00000358056:V86M;ENSP00000263451:V86M;ENSP00000410294:V86M;ENSP00000309878:V86M;ENSP00000358052:V86M;ENSP00000358054:V86M;ENSP00000352309:V86M	ENSP00000263451:V86M	V	-	1	0	FGFR2	123315062	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.378000	0.34328	2.587000	0.87381	0.643000	0.83706	GTG		0.552	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1		NM_022976, NM_000141		26	80	0	0	0	0.005443	0	26	80		
LHPP	64077	broad.mit.edu	37	10	126172787	126172787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:126172787C>T	ENST00000368842.5	+	2	233	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	LHPP_ENST00000392757.4_Nonsense_Mutation_p.Q69*|LHPP_ENST00000368839.1_Nonsense_Mutation_p.Q69*	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	69					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GGGGCAGCTTCAGAGGCTGGG	0.627																																					GBM(165;1980 2715 15999 18454)	uc001lhs.1		NaN																	0					0						c.(205-207)CAG>TAG		phospholysine phosphohistidine inorganic							48.0	49.0	48.0					10																	126172787		2203	4300	6503	SO:0001587	stop_gained	64077				protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity	g.chr10:126172787C>T	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.205C>T	10.37:g.126172787C>T	ENSP00000357835:p.Gln69*					LHPP_uc001lht.1_Nonsense_Mutation_p.Q69*|LHPP_uc009yai.1_Nonsense_Mutation_p.Q69*	p.Q69*	NM_022126	NP_071409	Q9H008	LHPP_HUMAN		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)	2	225	+		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	69					B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Nonsense_Mutation	SNP	ENST00000368842.5	37	c.205C>T	CCDS7640.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585234	0.46110	.	.	ENSG00000107902	ENST00000392757;ENST00000368842;ENST00000368839	.	.	.	4.46	4.46	0.54185	.	0.520544	0.20509	N	0.090922	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-9.8858	17.6787	0.88237	0.0:1.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000357832:Q69X	Q	+	1	0	LHPP	126162777	0.163000	0.22920	0.009000	0.14445	0.006000	0.05464	4.269000	0.58890	2.487000	0.83934	0.650000	0.86243	CAG		0.627	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050870.1		NM_022126		7	34	0	0	0	0.010729	0	7	34		
LHPP	64077	broad.mit.edu	37	10	126301921	126301921	+	Missense_Mutation	SNP	G	G	C	rs373545055		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:126301921G>C	ENST00000368842.5	+	7	833	c.805G>C	c.(805-807)Gac>Cac	p.D269H	LHPP_ENST00000482963.1_Intron|LHPP_ENST00000368839.1_3'UTR	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	269					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GCAGCACGCCGACAAGTGATG	0.672																																					GBM(165;1980 2715 15999 18454)	uc001lhs.1		NaN																	0					0						c.(805-807)GAC>CAC		phospholysine phosphohistidine inorganic							107.0	89.0	95.0					10																	126301921		2203	4300	6503	SO:0001583	missense	64077				protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity	g.chr10:126301921G>C	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.805G>C	10.37:g.126301921G>C	ENSP00000357835:p.Asp269His					LHPP_uc001lht.1_3'UTR|LHPP_uc009yai.1_Missense_Mutation_p.D186H|LHPP_uc009yaj.1_RNA	p.D269H	NM_022126	NP_071409	Q9H008	LHPP_HUMAN		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)	7	825	+		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	269					B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Missense_Mutation	SNP	ENST00000368842.5	37	c.805G>C	CCDS7640.1	.	.	.	.	.	.	.	.	.	.	g	4.349	0.064204	0.08388	.	.	ENSG00000107902	ENST00000368842	T	0.34859	1.34	3.99	0.92	0.19397	.	0.634236	0.14059	N	0.344200	T	0.15349	0.0370	N	0.08118	0	0.09310	N	0.999992	B	0.09022	0.002	B	0.04013	0.001	T	0.16188	-1.0411	10	0.38643	T	0.18	-19.1129	3.3134	0.07025	0.0978:0.3171:0.4226:0.1625	.	269	Q9H008	LHPP_HUMAN	H	269	ENSP00000357835:D269H	ENSP00000357835:D269H	D	+	1	0	LHPP	126291911	0.006000	0.16342	0.101000	0.21167	0.032000	0.12392	0.173000	0.16724	0.069000	0.16605	-0.309000	0.09137	GAC		0.672	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050870.1		NM_022126		22	26	0	0	0	0.00333	0	22	26		
ZRANB1	54764	broad.mit.edu	37	10	126670348	126670348	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:126670348G>A	ENST00000359653.4	+	6	1869	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	500	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TTCCTTGAGAGAAGAACAGTG	0.378																																						uc001lic.2		NaN																	0				ovary(1)|kidney(1)	2						c.(1498-1500)GAA>AAA		zinc finger, RAN-binding domain containing 1							129.0	134.0	132.0					10																	126670348		2203	4300	6503	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126670348G>A	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1498G>A	10.37:g.126670348G>A	ENSP00000352676:p.Glu500Lys					ZRANB1_uc010qug.1_Missense_Mutation_p.E526K	p.E500K	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	6	1869	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	500			OTU.|TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.1498G>A	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114717	0.77210	.	.	ENSG00000019995	ENST00000359653	T	0.32988	1.43	5.52	4.61	0.57282	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	M	0.87758	2.905	0.80722	D	1	B	0.28419	0.211	B	0.26310	0.068	T	0.46925	-0.9156	10	0.72032	D	0.01	-14.2322	14.0718	0.64865	0.0723:0.0:0.9276:0.0	.	500	Q9UGI0	ZRAN1_HUMAN	K	500	ENSP00000352676:E500K	ENSP00000352676:E500K	E	+	1	0	ZRANB1	126660338	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.415000	0.97375	1.328000	0.45358	0.591000	0.81541	GAA		0.378	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1		NM_017580		17	51	0	0	0	0.006122	0	17	51		
DHX32	55760	broad.mit.edu	37	10	127525285	127525285	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:127525285C>T	ENST00000284690.3	-	11	2693	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K	BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.E359K|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.E654K	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	735						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGTTCAGTTTCAGGGCACGTC	0.498																																						uc001ljf.1		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(2203-2205)GAA>AAA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32							220.0	160.0	180.0					10																	127525285		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127525285C>T		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.2203G>A	10.37:g.127525285C>T	ENSP00000284690:p.Glu735Lys					BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.E359K|DHX32_uc001ljg.1_Missense_Mutation_p.E735K|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	p.E735K	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN			11	2694	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	735					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.2203G>A	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630263	0.67015	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.17691	2.26;4.05;3.76	5.14	5.14	0.70334	.	0.632758	0.16017	N	0.233503	T	0.19525	0.0469	L	0.47716	1.5	0.24112	N	0.995834	B	0.20368	0.044	B	0.19148	0.024	T	0.10268	-1.0637	10	0.87932	D	0	-15.9161	15.4663	0.75403	0.0:0.8514:0.1486:0.0	.	735	Q7L7V1	DHX32_HUMAN	K	359;735;654	ENSP00000357710:E359K;ENSP00000284690:E735K;ENSP00000284688:E654K	ENSP00000284688:E654K	E	-	1	0	DHX32	127515275	0.998000	0.40836	0.692000	0.30179	0.939000	0.58152	4.723000	0.61965	2.680000	0.91292	0.563000	0.77884	GAA		0.498	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2		NM_018180		15	38	0	0	0	0.00245	0	15	38		
GLRX3	10539	broad.mit.edu	37	10	131964842	131964842	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:131964842G>A	ENST00000368644.1	+	5	572	c.550G>A	c.(550-552)Gat>Aat	p.D184N	GLRX3_ENST00000331244.5_Missense_Mutation_p.D184N	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	184	Glutaredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TATCTTCTCAGATGAAGAGGT	0.383																																						uc001lkm.1		NaN																	0					0						c.(550-552)GAT>AAT		glutaredoxin 3							122.0	121.0	121.0					10																	131964842		2203	4300	6503	SO:0001583	missense	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131964842G>A	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.550G>A	10.37:g.131964842G>A	ENSP00000357633:p.Asp184Asn					GLRX3_uc001lkn.1_Missense_Mutation_p.D184N|GLRX3_uc001lko.2_RNA	p.D184N	NM_006541	NP_006532	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	5	572	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	184			Glutaredoxin 1.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	c.550G>A	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154785	0.94686	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.35048	1.33;1.33	5.0	5.0	0.66597	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	L	0.46567	1.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56220	-0.8015	10	0.59425	D	0.04	-27.154	17.3131	0.87215	0.0:0.0:1.0:0.0	.	184	O76003	GLRX3_HUMAN	N	184	ENSP00000330836:D184N;ENSP00000357633:D184N	ENSP00000330836:D184N	D	+	1	0	GLRX3	131854832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.365000	0.97139	2.323000	0.78572	0.655000	0.94253	GAT		0.383	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1		NM_006541		24	100	0	0	0	0.00278	0	24	100		
DPYSL4	10570	broad.mit.edu	37	10	134015509	134015509	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134015509A>C	ENST00000338492.4	+	11	1334	c.1170A>C	c.(1168-1170)aaA>aaC	p.K390N	DPYSL4_ENST00000368629.1_Missense_Mutation_p.K290N|DPYSL4_ENST00000368627.1_Missense_Mutation_p.K290N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	390					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ATGCTGCCAAAATCTTCAATT	0.557																																						uc009ybb.2		NaN																	0				central_nervous_system(2)	2						c.(1168-1170)AAA>AAC		dihydropyrimidinase-like 4							104.0	104.0	104.0					10																	134015509		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134015509A>C	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1170A>C	10.37:g.134015509A>C	ENSP00000339850:p.Lys390Asn						p.K390N	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	11	1324	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	390					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.1170A>C	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.909417	0.72868	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.91945	-2.94;-2.94;-2.94	4.48	-2.03	0.07365	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.051385	0.85682	D	0.000000	D	0.96439	0.8838	H	0.96489	3.83	0.40314	D	0.978742	D	0.76494	0.999	D	0.71870	0.975	D	0.95739	0.8781	10	0.87932	D	0	-24.9851	11.9301	0.52841	0.3758:0.0:0.6242:0.0	.	390	O14531	DPYL4_HUMAN	N	390;290;290	ENSP00000339850:K390N;ENSP00000357618:K290N;ENSP00000357616:K290N	ENSP00000339850:K390N	K	+	3	2	DPYSL4	133865499	0.997000	0.39634	0.892000	0.35008	0.927000	0.56198	0.859000	0.27858	-0.268000	0.09312	-0.296000	0.09543	AAA		0.557	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2				23	126	0	0	0	0.00333	0	23	126		
PWWP2B	170394	broad.mit.edu	37	10	134218707	134218707	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134218707G>A	ENST00000305233.5	+	2	762	c.703G>A	c.(703-705)Gag>Aag	p.E235K	PWWP2B_ENST00000368609.4_Missense_Mutation_p.E235K	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	235										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GAGCAAGAGGGAGAGGCGCGA	0.716																																						uc001lll.3		NaN																	0					0						c.(703-705)GAG>AAG		PWWP domain containing 2 isoform 1							6.0	10.0	8.0					10																	134218707		2129	4228	6357	SO:0001583	missense	170394							g.chr10:134218707G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.703G>A	10.37:g.134218707G>A	ENSP00000306324:p.Glu235Lys					PWWP2B_uc009ybe.2_Missense_Mutation_p.E235K	p.E235K	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	732	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	235					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.703G>A	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893376	0.72524	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.55234	0.53;1.52	3.67	3.67	0.42095	.	0.232564	0.33895	U	0.004457	T	0.42988	0.1227	L	0.29908	0.895	0.47214	D	0.999358	D	0.53151	0.958	B	0.42692	0.395	T	0.51364	-0.8715	10	0.56958	D	0.05	-8.485	14.9335	0.70935	0.0:0.0:1.0:0.0	.	235	Q6NUJ5	PWP2B_HUMAN	K	235	ENSP00000306324:E235K;ENSP00000357598:E235K	ENSP00000306324:E235K	E	+	1	0	PWWP2B	134068697	1.000000	0.71417	0.994000	0.49952	0.272000	0.26649	4.291000	0.59025	2.067000	0.61834	0.563000	0.77884	GAG		0.716	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3		NM_138499		3	7	0	0	0	0.004672	0	3	7		
C10orf91	170393	broad.mit.edu	37	10	134261557	134261557	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134261557G>A	ENST00000392630.3	+	3	491	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	C10orf91_ENST00000321248.2_Missense_Mutation_p.E144K	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	144			E -> G (in dbSNP:rs11146376).							endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TGCGGCCTTCGAAGCCTGAAG	0.662																																						uc001llm.2		NaN																	0				ovary(1)	1						c.(430-432)GAA>AAA		hypothetical protein LOC170393							50.0	62.0	58.0					10																	134261557		2157	4269	6426	SO:0001583	missense	170393							g.chr10:134261557G>A	BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.430G>A	10.37:g.134261557G>A	ENSP00000376407:p.Glu144Lys						p.E144K	NM_173541	NP_775812	Q5T1B1	CJ091_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	3	470	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	144					Q8N0T7	Missense_Mutation	SNP	ENST00000392630.3	37	c.430G>A	CCDS7668.1	.	.	.	.	.	.	.	.	.	.	G	6.460	0.453066	0.12283	.	.	ENSG00000180066	ENST00000392630;ENST00000321248	T;T	0.54866	0.55;0.55	1.8	0.861	0.19048	.	.	.	.	.	T	0.25644	0.0624	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18524	-1.0334	8	.	.	.	.	4.2659	0.10763	0.2128:0.0:0.7872:0.0	.	144	Q5T1B1	CJ091_HUMAN	K	144	ENSP00000376407:E144K;ENSP00000323241:E144K	.	E	+	1	0	C10orf91	134111547	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.506000	0.22658	0.311000	0.23014	0.313000	0.20887	GAA		0.662	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2		NM_173541		22	109	0	0	0	0.00333	0	22	109		
INPP5A	3632	broad.mit.edu	37	10	134511403	134511403	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134511403C>T	ENST00000368594.3	+	6	731	c.454C>T	c.(454-456)Ccg>Tcg	p.P152S	INPP5A_ENST00000368593.3_Missense_Mutation_p.P152S|INPP5A_ENST00000487614.1_3'UTR	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	152				PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500). {ECO:0000305}.	inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GGAGAAGTTTCCGCAGGACTA	0.498																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2		NaN																	0				skin(1)	1						c.(454-456)CCG>TCG		inositol polyphosphate-5-phosphatase A							114.0	100.0	105.0					10																	134511403		2202	4300	6502	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134511403C>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.454C>T	10.37:g.134511403C>T	ENSP00000357583:p.Pro152Ser					INPP5A_uc001llo.1_Missense_Mutation_p.P152S|INPP5A_uc001llq.2_Missense_Mutation_p.P104S	p.P152S	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	6	702	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	152	PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500).				D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.454C>T	CCDS7669.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.838418|4.838418	0.91117|0.91117	.|.	.|.	ENSG00000068383|ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000536599;ENST00000368595;ENST00000432898;ENST00000451873;ENST00000423490|ENST00000342652	T;T;T|.	0.54279|.	0.58;0.58;0.58|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81955|0.81955	0.4932|0.4932	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.995;1.0;1.0|.	P;D;D|.	0.91635|.	0.902;0.999;0.999|.	D|D	0.83565|0.83565	0.0109|0.0109	10|5	0.49607|.	T|.	0.09|.	-13.7349|-13.7349	18.626|18.626	0.91338|0.91338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	152;152;152|.	F5GWM1;Q14642;Q5T1B5|.	.;I5P1_HUMAN;.|.	S|F	152;152;152;89;152;72;148;75|123	ENSP00000357583:P152S;ENSP00000357582:P152S;ENSP00000390936:P75S|.	ENSP00000357582:P152S|.	P|S	+|+	1|2	0|0	INPP5A|INPP5A	134361393|134361393	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.973000|0.973000	0.67179|0.67179	7.067000|7.067000	0.76741|0.76741	2.398000|2.398000	0.81561|0.81561	0.655000|0.655000	0.94253|0.94253	CCG|TCC		0.498	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1		NM_005539		10	34	0	0	0	0.010729	0	10	34		
HRAS	3265	broad.mit.edu	37	11	533785	533785	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:533785C>T	ENST00000451590.1	-	3	458	c.271G>A	c.(271-273)Gag>Aag	p.E91K	HRAS_ENST00000417302.1_Missense_Mutation_p.E91K|HRAS_ENST00000397594.1_Missense_Mutation_p.E91K|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000311189.7_Missense_Mutation_p.E91K|HRAS_ENST00000397596.2_Missense_Mutation_p.E91K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	91					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGATGTCCTCAAAAGACTTG	0.657		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		0				urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749						c.(271-273)GAG>AAG		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						88.0	77.0	81.0					11																	533785		2203	4300	6503	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533785C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.271G>A	11.37:g.533785C>T	ENSP00000407586:p.Glu91Lys	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.E91K|HRAS_uc010qvx.1_Missense_Mutation_p.E91K|HRAS_uc010qvy.1_RNA	p.E91K	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	459	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	91					B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.271G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095908	0.56075	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	M	0.79123	2.44	0.80722	D	1	B;B	0.24651	0.014;0.108	B;B	0.33254	0.027;0.16	T	0.81317	-0.0987	10	0.54805	T	0.06	.	14.8426	0.70237	0.0:1.0:0.0:0.0	.	91;91	P01112-2;P01112	.;RASH_HUMAN	K	91	ENSP00000380722:E91K;ENSP00000380723:E91K;ENSP00000407586:E91K;ENSP00000388246:E91K;ENSP00000309845:E91K	ENSP00000309845:E91K	E	-	1	0	HRAS	523785	1.000000	0.71417	0.909000	0.35828	0.518000	0.34316	7.381000	0.79718	2.045000	0.60652	0.561000	0.74099	GAG		0.657	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2		NM_176795		20	35	0	0	0	0.010504	0	20	35		
RASSF7	8045	broad.mit.edu	37	11	563424	563424	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:563424C>T	ENST00000397583.3	+	5	1413	c.980C>T	c.(979-981)tCc>tTc	p.S327F	RASSF7_ENST00000454668.2_Intron|RASSF7_ENST00000397582.3_3'UTR|RASSF7_ENST00000344375.4_Missense_Mutation_p.S327F|MIR210HG_ENST00000500447.1_lincRNA|RASSF7_ENST00000431809.1_3'UTR|C11orf35_ENST00000329451.3_5'Flank	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	327					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGAGGAGTCCCTCCTGGGC	0.697																																					Pancreas(184;1170 3913 7268)	uc001lqc.2		NaN																	0				skin(1)	1						c.(979-981)TCC>TTC		Ras association (RalGDS/AF-6) domain family							20.0	22.0	21.0					11																	563424		2200	4297	6497	SO:0001583	missense	8045				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding	g.chr11:563424C>T	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"""chromosome 11 open reading frame 13"""	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.980C>T	11.37:g.563424C>T	ENSP00000380713:p.Ser327Phe					C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_3'UTR|RASSF7_uc001lqb.2_3'UTR|RASSF7_uc001lqd.2_Intron	p.S327F	NM_003475	NP_003466	Q02833	RASF7_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	1015	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	327					G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	ENST00000397583.3	37	c.980C>T	CCDS7702.1	.	.	.	.	.	.	.	.	.	.	C	8.162	0.789795	0.16258	.	.	ENSG00000099849	ENST00000344375;ENST00000397583	T;T	0.37058	1.22;1.22	3.13	1.12	0.20585	.	1.290130	0.05908	U	0.631233	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.14578	0.011	T	0.24870	-1.0148	10	0.59425	D	0.04	.	4.891	0.13726	0.0:0.621:0.1734:0.2056	.	327	Q02833	RASF7_HUMAN	F	327	ENSP00000344226:S327F;ENSP00000380713:S327F	ENSP00000344226:S327F	S	+	2	0	RASSF7	553424	0.003000	0.15002	0.006000	0.13384	0.550000	0.35303	0.694000	0.25512	0.525000	0.28522	0.462000	0.41574	TCC		0.697	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2		NM_003475		5	12	0	0	0	0.001168	0	5	12		
PHRF1	57661	broad.mit.edu	37	11	597514	597514	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:597514G>A	ENST00000264555.5	+	8	966	c.838G>A	c.(838-840)Gag>Aag	p.E280K	PHRF1_ENST00000416188.2_Missense_Mutation_p.E280K|PHRF1_ENST00000413872.2_Missense_Mutation_p.E279K|PHRF1_ENST00000533464.1_Missense_Mutation_p.E276K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	280	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGGCAGAGTGAGAGAGTGAG	0.662																																						uc001lqe.2		NaN																	0					0						c.(838-840)GAG>AAG		PHD and ring finger domains 1							45.0	55.0	52.0					11																	597514		2085	4206	6291	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:597514G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.838G>A	11.37:g.597514G>A	ENSP00000264555:p.Glu280Lys					PHRF1_uc010qwc.1_Missense_Mutation_p.E280K|PHRF1_uc010qwd.1_Missense_Mutation_p.E279K|PHRF1_uc010qwe.1_Missense_Mutation_p.E276K|PHRF1_uc009ybz.1_Missense_Mutation_p.E71K	p.E280K	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			8	969	+			280			Arg-rich.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.838G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.143993	0.94603	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.23	4.23	0.50019	.	0.000000	0.43110	D	0.000617	T	0.68100	0.2964	M	0.70275	2.135	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.998;0.996	T	0.73652	-0.3915	10	0.87932	D	0	-35.7	16.876	0.86052	0.0:0.0:1.0:0.0	.	276;279;280;280	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	K	280;279;280;276	ENSP00000264555:E280K;ENSP00000388589:E279K;ENSP00000410626:E280K;ENSP00000431870:E276K	ENSP00000264555:E280K	E	+	1	0	PHRF1	587514	1.000000	0.71417	0.997000	0.53966	0.753000	0.42808	8.104000	0.89551	2.217000	0.71921	0.556000	0.70494	GAG		0.662	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1		NM_020901		5	17	0	0	0	0.000602	0	5	17		
CDHR5	53841	broad.mit.edu	37	11	617418	617419	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:617418_617419TC>AT	ENST00000358353.3	-	16	2792_2793	c.2470_2471GA>AT	c.(2470-2472)GAg>ATg	p.E824M	IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000330243.5_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.E824M|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000348655.6_5'Flank|CDHR5_ENST00000349570.7_Missense_Mutation_p.E630M|IRF7_ENST00000397566.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	824					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCCCTCGCCCTCATCGCCGCTG	0.688																																						uc001lqj.2		NaN																	0					0						c.(2470-2472)GAG>ATG		mucin and cadherin-like isoform 1																																				SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:617418_617419TC>AT	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2470_2471delinsAT	11.37:g.617418_617419delinsAT	ENSP00000351118:p.Glu824Met					IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Missense_Mutation_p.E630M|CDHR5_uc009ycc.2_Missense_Mutation_p.E658M|CDHR5_uc009ycd.2_Missense_Mutation_p.E818M|CDHR5_uc001lql.2_Missense_Mutation_p.E824M	p.E824M	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			15	2575_2576	-			824			Cytoplasmic (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	DNP	ENST00000358353.3	37	c.2470_2471GA>AT	CCDS7707.1																																																																																				0.688	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2		NM_021924		4	11	0	0	0	0.004672	0	4	11		
TMEM80	283232	broad.mit.edu	37	11	702971	702971	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:702971G>A	ENST00000608174.1	+	5	465	c.328G>A	c.(328-330)Gag>Aag	p.E110K	TMEM80_ENST00000397512.3_Missense_Mutation_p.E102K|TMEM80_ENST00000397510.3_Missense_Mutation_p.E158K	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	110						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACAGAGGCTGAGAGGCCGCT	0.692																																						uc001lqr.2		NaN																	0					0						c.(328-330)GAG>AAG		transmembrane protein 80 isoform 2							26.0	30.0	29.0					11																	702971		2186	4269	6455	SO:0001583	missense	283232					integral to membrane		g.chr11:702971G>A		CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.328G>A	11.37:g.702971G>A	ENSP00000476563:p.Glu110Lys					TMEM80_uc001lqs.2_Missense_Mutation_p.E102K|TMEM80_uc010qwi.1_Missense_Mutation_p.E110K	p.E110K	NM_001042463	NP_001035928	Q96HE8	TMM80_HUMAN		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	465	+		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	110					A8MQ01|A8MXY8|B7WNU5	Missense_Mutation	SNP	ENST00000608174.1	37	c.328G>A	CCDS41587.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162613	0.38217	.	.	ENSG00000177042	ENST00000397510;ENST00000397512;ENST00000526170	D;D	0.88354	-2.37;-2.37	3.77	2.85	0.33270	.	0.086882	0.44688	D	0.000426	D	0.89952	0.6864	L	0.54323	1.7	0.29207	N	0.874806	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.81799	-0.0767	10	0.05959	T	0.93	-7.0222	10.0591	0.42263	0.1033:0.0:0.8967:0.0	.	85;102;110	E9PQJ9;Q96HE8-2;Q96HE8	.;.;TMM80_HUMAN	K	110;102;85	ENSP00000380646:E110K;ENSP00000380648:E102K	ENSP00000380646:E110K	E	+	1	0	TMEM80	692971	1.000000	0.71417	0.217000	0.23759	0.839000	0.47603	6.530000	0.73816	0.945000	0.37605	0.511000	0.50034	GAG		0.692	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257104.2		NM_174940		11	36	0	0	0	0.010729	0	11	36		
TMEM80	283232	broad.mit.edu	37	11	703075	703075	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:703075C>T	ENST00000608174.1	+	5	569	c.432C>T	c.(430-432)ctC>ctT	p.L144L	TMEM80_ENST00000397512.3_Silent_p.L136L|TMEM80_ENST00000528024.1_3'UTR|TMEM80_ENST00000397510.3_Silent_p.L192L	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	144						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTGGGCCCTCAGCGCCACGC	0.701																																						uc001lqr.2		NaN																	0					0						c.(430-432)CTC>CTT		transmembrane protein 80 isoform 2							23.0	24.0	23.0					11																	703075		2199	4292	6491	SO:0001819	synonymous_variant	283232					integral to membrane		g.chr11:703075C>T		CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.432C>T	11.37:g.703075C>T						TMEM80_uc001lqs.2_Silent_p.L136L|TMEM80_uc010qwi.1_Silent_p.L144L	p.L144L	NM_001042463	NP_001035928	Q96HE8	TMM80_HUMAN		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	569	+		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	144			Helical; (Potential).		A8MQ01|A8MXY8|B7WNU5	Silent	SNP	ENST00000608174.1	37	c.432C>T	CCDS41587.1																																																																																				0.701	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257104.2		NM_174940		7	35	0	0	0	0.001984	0	7	35		
MUC2	4583	broad.mit.edu	37	11	1081800	1081800	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1081800G>A	ENST00000441003.2	+	13	1755	c.1728G>A	c.(1726-1728)ctG>ctA	p.L576L	MUC2_ENST00000359061.5_Silent_p.L576L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	576	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGCTCCCTGAACATCGAGA	0.677																																						uc001lsx.1		NaN																	0				lung(1)|breast(1)	2						c.(1726-1728)CTG>CTA		mucin 2 precursor	Pranlukast(DB01411)						44.0	47.0	46.0					11																	1081800		2042	4176	6218	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1081800G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1728G>A	11.37:g.1081800G>A							p.L576L	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1755	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	576			VWFD 2.		Q14878	Silent	SNP	ENST00000441003.2	37	c.1728G>A																																																																																					0.677	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		NM_002457		16	20	0	0	0	0.006122	0	16	20		
MUC5B	727897	broad.mit.edu	37	11	1276623	1276623	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1276623G>A	ENST00000529681.1	+	37	15959	c.15901G>A	c.(15901-15903)Gag>Aag	p.E5301K	MUC5B_ENST00000447027.1_Missense_Mutation_p.E5304K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5301	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTCTTTGCTGAGTGCCACAA	0.701																																						uc009ycr.1		NaN																	0					0						c.(16912-16914)GAG>AAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							23.0	26.0	25.0					11																	1276623		2007	4157	6164	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1276623G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15901G>A	11.37:g.1276623G>A	ENSP00000436812:p.Glu5301Lys					MUC5B_uc001ltb.2_Missense_Mutation_p.E5304K	p.E5638K	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	59	17038	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5301			VWFD 4.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16912G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	1.897	-0.454141	0.04540	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.76709	-1.04;-1.04	3.63	-2.53	0.06326	.	.	.	.	.	T	0.64114	0.2569	L	0.31845	0.965	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.12837	0.008;0.008	T	0.55341	-0.8156	9	0.87932	D	0	.	7.4376	0.27164	0.1646:0.37:0.4653:0.0	.	5638;5304	A7Y9J9;E9PBJ0	.;.	K	5301;5304;5245;200;5013	ENSP00000436812:E5301K;ENSP00000415793:E5304K	ENSP00000343037:E5245K	E	+	1	0	MUC5B	1233199	0.000000	0.05858	0.020000	0.16555	0.035000	0.12851	0.398000	0.20899	-0.312000	0.08741	-2.359000	0.00239	GAG		0.701	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093		4	5	0	0	0	0.000602	0	4	5		
SYT8	90019	broad.mit.edu	37	11	1856335	1856335	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1856335G>A	ENST00000381968.3	+	2	170	c.42G>A	c.(40-42)aaG>aaA	p.K14K	SYT8_ENST00000535046.1_Silent_p.K152K|SYT8_ENST00000436964.2_De_novo_Start_InFrame|SYT8_ENST00000341958.3_De_novo_Start_InFrame	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	14					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGGTAGAAAGATGGGGCACC	0.657																																						uc001lue.1		NaN																	0				ovary(1)	1						c.(40-42)AAG>AAA		synaptotagmin VIII							36.0	43.0	41.0					11																	1856335		2202	4299	6501	SO:0001819	synonymous_variant	90019					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity	g.chr11:1856335G>A	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.42G>A	11.37:g.1856335G>A						SYT8_uc010qxb.1_5'UTR|SYT8_uc001lud.2_Silent_p.K14K|SYT8_uc001luf.1_5'UTR|SYT8_uc009ydb.1_5'UTR	p.K14K	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	2	170	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	14			Extracellular (Potential).		A6NFJ4|Q9NSV9	Silent	SNP	ENST00000381968.3	37	c.42G>A	CCDS7726.2	.	.	.	.	.	.	.	.	.	.	g	4.676	0.125595	0.08931	.	.	ENSG00000149043	ENST00000381978	.	.	.	2.81	1.86	0.25419	.	.	.	.	.	T	0.25232	0.0613	.	.	.	0.21897	N	0.999488	.	.	.	.	.	.	T	0.20706	-1.0267	4	.	.	.	.	4.5032	0.11874	0.1342:0.2288:0.637:0.0	.	.	.	.	N	13	.	.	D	+	1	0	SYT8	1812911	0.420000	0.25457	0.122000	0.21767	0.051000	0.14879	1.302000	0.33459	0.737000	0.32582	0.305000	0.20034	GAT		0.657	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4				6	34	0	0	0	0.001168	0	6	34		
SYT8	90019	broad.mit.edu	37	11	1856355	1856355	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1856355C>G	ENST00000381968.3	+	2	190	c.62C>G	c.(61-63)tCt>tGt	p.S21C	SYT8_ENST00000535046.1_Missense_Mutation_p.S159C|SYT8_ENST00000436964.2_Missense_Mutation_p.S7C|SYT8_ENST00000341958.3_Missense_Mutation_p.S7C	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	21					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACCAGTCTCTCCCAGTGCC	0.662																																						uc001lue.1		NaN																	0				ovary(1)	1						c.(61-63)TCT>TGT		synaptotagmin VIII							39.0	47.0	44.0					11																	1856355		2202	4299	6501	SO:0001583	missense	90019					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity	g.chr11:1856355C>G	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.62C>G	11.37:g.1856355C>G	ENSP00000371394:p.Ser21Cys					SYT8_uc010qxb.1_Missense_Mutation_p.S7C|SYT8_uc001lud.2_Missense_Mutation_p.S21C|SYT8_uc001luf.1_Missense_Mutation_p.S7C|SYT8_uc009ydb.1_Missense_Mutation_p.S7C	p.S21C	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	2	190	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	21			Extracellular (Potential).		A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	c.62C>G	CCDS7726.2	.	.	.	.	.	.	.	.	.	.	c	10.49	1.365273	0.24684	.	.	ENSG00000149043	ENST00000436964;ENST00000430303;ENST00000417052;ENST00000535046;ENST00000381968;ENST00000341958	T;T;T;T;T;T	0.47177	2.11;0.85;0.85;2.03;2.81;2.87	2.81	2.81	0.32909	.	.	.	.	.	T	0.42698	0.1214	L	0.40543	1.245	0.09310	N	1	D;D;P;P	0.55605	0.972;0.972;0.574;0.804	P;P;B;B	0.47705	0.555;0.555;0.135;0.135	T	0.26815	-1.0092	9	0.66056	D	0.02	.	7.1988	0.25868	0.2653:0.7347:0.0:0.0	.	7;7;21;7	C9JSK3;B4DDZ3;Q8NBV8;A6NCR4	.;.;SYT8_HUMAN;.	C	7;7;7;159;21;7	ENSP00000414626:S7C;ENSP00000392469:S7C;ENSP00000387678:S7C;ENSP00000443325:S159C;ENSP00000371394:S21C;ENSP00000343691:S7C	ENSP00000343691:S7C	S	+	2	0	SYT8	1812931	0.001000	0.12720	0.004000	0.12327	0.017000	0.09413	1.025000	0.30090	1.900000	0.55004	0.305000	0.20034	TCT		0.662	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4				5	37	0	0	0	0.000602	0	5	37		
SYT8	90019	broad.mit.edu	37	11	1856543	1856543	+	Missense_Mutation	SNP	A	A	C	rs374274962		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1856543A>C	ENST00000381968.3	+	3	282	c.154A>C	c.(154-156)Att>Ctt	p.I52L	SYT8_ENST00000535046.1_Missense_Mutation_p.I190L|SYT8_ENST00000436964.2_Missense_Mutation_p.I38L|SYT8_ENST00000341958.3_Missense_Mutation_p.I38L	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	52					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGGCTCTCATTGCCGGCGC	0.677																																						uc001lue.1		NaN																	0				ovary(1)	1						c.(154-156)ATT>CTT		synaptotagmin VIII							28.0	34.0	32.0					11																	1856543		2202	4295	6497	SO:0001583	missense	90019					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity	g.chr11:1856543A>C	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.154A>C	11.37:g.1856543A>C	ENSP00000371394:p.Ile52Leu					SYT8_uc010qxb.1_Missense_Mutation_p.I38L|SYT8_uc001lud.2_Missense_Mutation_p.I52L|SYT8_uc001luf.1_Missense_Mutation_p.I38L|SYT8_uc009ydb.1_Missense_Mutation_p.I38L	p.I52L	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	282	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	52			Helical; Signal-anchor for type III membrane protein; (Potential).		A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	c.154A>C	CCDS7726.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	12.11|12.11	1.840748|1.840748	0.32513|0.32513	.|.	.|.	ENSG00000149043|ENSG00000149043	ENST00000381978|ENST00000436964;ENST00000430303;ENST00000417052;ENST00000535046;ENST00000381968;ENST00000341958	.|T;T;T;T;T;T	.|0.50001	.|2.0;0.76;0.79;2.0;2.82;2.84	3.34|3.34	-3.05|-3.05	0.05396|0.05396	.|.	.|.	.|.	.|.	.|.	T|T	0.34948|0.34948	0.0915|0.0915	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.32101	.|0.206;0.356;0.131;0.131	.|B;B;B;B	.|0.30401	.|0.058;0.115;0.026;0.026	T|T	0.25363|0.25363	-1.0134|-1.0134	5|9	.|0.48119	.|T	.|0.1	.|.	3.6688|3.6688	0.08266|0.08266	0.4465:0.0:0.3734:0.1801|0.4465:0.0:0.3734:0.1801	.|.	.|38;38;52;38	.|C9JSK3;B4DDZ3;Q8NBV8;A6NCR4	.|.;.;SYT8_HUMAN;.	P|L	50|38;38;38;190;52;38	.|ENSP00000414626:I38L;ENSP00000392469:I38L;ENSP00000387678:I38L;ENSP00000443325:I190L;ENSP00000371394:I52L;ENSP00000343691:I38L	.|ENSP00000343691:I38L	H|I	+|+	2|1	0|0	SYT8|SYT8	1813119|1813119	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.108000|0.108000	0.19459|0.19459	-0.632000|-0.632000	0.05489|0.05489	-0.726000|-0.726000	0.04895|0.04895	0.254000|0.254000	0.18369|0.18369	CAT|ATT		0.677	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4				20	42	0	0	0	0.003954	0	20	42		
NUP98	4928	broad.mit.edu	37	11	3707310	3707310	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:3707310G>C	ENST00000324932.7	-	29	4989	c.4569C>G	c.(4567-4569)ctC>ctG	p.L1523L	NUP98_ENST00000359171.4_Intron|NUP98_ENST00000355260.3_Intron	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1540					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ACTGCGCTGAGAGATGGGTGT	0.557			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2		NaN		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(4567-4569)CTC>CTG		nucleoporin 98kD isoform 1							117.0	106.0	110.0					11																	3707310		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3707310G>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4569C>G	11.37:g.3707310G>C						NUP98_uc001lyi.2_Intron|NUP98_uc001lyg.2_Silent_p.L488L	p.L1523L	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	29	4860	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1540					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.4569C>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	8.992	0.977949	0.18812	.	.	ENSG00000110713	ENST00000429801	.	.	.	5.45	2.37	0.29283	.	0.000000	0.64402	D	0.000001	T	0.59569	0.2203	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58929	-0.7549	6	0.66056	D	0.02	-4.2815	5.4219	0.16405	0.0786:0.3574:0.4355:0.1284	.	.	.	.	V	476	.	ENSP00000413146:L476V	L	-	1	0	NUP98	3663886	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	0.409000	0.21082	0.714000	0.32081	0.555000	0.69702	CTC		0.557	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3		NM_016320		17	82	0	0	0	0.004007	0	17	82		
OR51D1	390038	broad.mit.edu	37	11	4661061	4661061	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:4661061C>G	ENST00000357605.2	+	1	117	c.41C>G	c.(40-42)tCa>tGa	p.S14*		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCCACTTCAAATGGAAAT	0.473																																						uc010qyk.1		NaN																	0					0						c.(40-42)TCA>TGA		olfactory receptor, family 51, subfamily D,							154.0	144.0	147.0					11																	4661061		2201	4298	6499	SO:0001587	stop_gained	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661061C>G	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.41C>G	11.37:g.4661061C>G	ENSP00000350222:p.Ser14*						p.S14*	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	41	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	14			Extracellular (Potential).		B9EIK4	Nonsense_Mutation	SNP	ENST00000357605.2	37	c.41C>G	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890815	0.52014	.	.	ENSG00000197428	ENST00000357605	.	.	.	4.59	-0.717	0.11208	.	0.717361	0.12087	N	0.500746	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	2.8639	0.05595	0.3657:0.3393:0.0:0.2951	.	.	.	.	X	14	.	ENSP00000350222:S14X	S	+	2	0	OR51D1	4617637	0.002000	0.14202	0.062000	0.19696	0.001000	0.01503	-0.116000	0.10724	-0.008000	0.14320	-0.321000	0.08615	TCA		0.473	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1		NM_001004751		29	145	0	0	0	0.009535	0	29	145		
OR51L1	119682	broad.mit.edu	37	11	5020915	5020915	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:5020915G>C	ENST00000321543.1	+	1	703	c.703G>C	c.(703-705)Gag>Cag	p.E235Q		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTCGTGAAGAGCAGCTAAA	0.423																																						uc010qyu.1		NaN																	0				skin(1)	1						c.(703-705)GAG>CAG		olfactory receptor, family 51, subfamily L,							231.0	201.0	211.0					11																	5020915		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020915G>C	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.703G>C	11.37:g.5020915G>C	ENSP00000322156:p.Glu235Gln						p.E235Q	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	703	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	235			Cytoplasmic (Potential).		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.703G>C	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768940	0.49680	.	.	ENSG00000176798	ENST00000321543	T	0.00107	8.72	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000608	T	0.00496	0.0016	M	0.82132	2.575	0.21604	N	0.999621	D	0.76494	0.999	D	0.83275	0.996	T	0.55023	-0.8205	10	0.51188	T	0.08	.	13.7076	0.62648	0.0:0.0:0.8453:0.1547	.	235	Q8NGJ5	O51L1_HUMAN	Q	235	ENSP00000322156:E235Q	ENSP00000322156:E235Q	E	+	1	0	OR51L1	4977491	0.318000	0.24598	0.999000	0.59377	0.640000	0.38277	3.128000	0.50492	2.822000	0.97130	0.650000	0.86243	GAG		0.423	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1		NM_001004755		18	82	0	0	0	0.00499	0	18	82		
OR52A1	23538	broad.mit.edu	37	11	5173165	5173165	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:5173165C>G	ENST00000380367.1	-	2	852	c.435G>C	c.(433-435)caG>caC	p.Q145H	OR52A1_ENST00000328942.1_Missense_Mutation_p.Q145H			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	145					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGTTCCTATCTGAATGACAA	0.483																																						uc010qyy.1		NaN																	0				ovary(1)|breast(1)	2						c.(433-435)CAG>CAC		olfactory receptor, family 52, subfamily A,							104.0	95.0	98.0					11																	5173165		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173165C>G	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.435G>C	11.37:g.5173165C>G	ENSP00000369725:p.Gln145His						p.Q145H	NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	435	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	145			Helical; Name=4; (Potential).		Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.435G>C	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	C	0.466	-0.886598	0.02511	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.37411	1.2;1.2	5.28	-3.07	0.05363	GPCR, rhodopsin-like superfamily (1);	0.132210	0.34652	N	0.003790	T	0.13756	0.0333	N	0.16201	0.385	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.15065	-1.0450	10	0.17369	T	0.5	.	3.6417	0.08169	0.1101:0.4054:0.1182:0.3664	.	145	Q9UKL2	O52A1_HUMAN	H	145	ENSP00000369725:Q145H;ENSP00000333684:Q145H	ENSP00000333684:Q145H	Q	-	3	2	OR52A1	5129741	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-3.123000	0.00594	-0.401000	0.07644	-0.469000	0.05056	CAG		0.483	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2		NM_012375		23	51	0	0	0	0.00278	0	23	51		
TRIM6	117854	broad.mit.edu	37	11	5624476	5624476	+	5'UTR	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:5624476G>A	ENST00000278302.5	+	0	74				TRIM6_ENST00000380107.1_5'UTR|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000380097.3_Splice_Site_p.R6R|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Splice_Site_p.R6R|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000506134.1_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6						protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCTACCTAGGATTCTACAGG	0.473																																						uc001mbf.2		NaN																	0				ovary(1)	1						c.(16-18)AGG>AGA		tripartite motif-containing 6 and tripartite							67.0	60.0	63.0					11																	5624476		2201	4297	6498	SO:0001623	5_prime_UTR_variant	445372					intracellular	zinc ion binding	g.chr11:5624476G>A	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.-67G>A	11.37:g.5624476G>A						HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_5'UTR|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbc.1_5'UTR|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Silent_p.R6R|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	p.R6R	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	2	262	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	6					A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	ENST00000278302.5	37	c.18G>A	CCDS31390.1																																																																																				0.473	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2		NM_001003818		25	39	0	0	0	0.003954	0	25	39		
TRIM6	117854	broad.mit.edu	37	11	5624860	5624860	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:5624860C>G	ENST00000278302.5	+	2	458	c.318C>G	c.(316-318)ctC>ctG	p.L106L	TRIM6_ENST00000380107.1_Intron|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000380097.3_Silent_p.L134L|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_5'UTR|TRIM6-TRIM34_ENST00000354852.5_Silent_p.L134L|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000506134.1_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	106					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AACTGCAGCTCTTCTGTCAGG	0.557																																						uc001mbf.2		NaN																	0				ovary(1)	1						c.(400-402)CTC>CTG		tripartite motif-containing 6 and tripartite							143.0	136.0	138.0					11																	5624860		2201	4297	6498	SO:0001819	synonymous_variant	445372					intracellular	zinc ion binding	g.chr11:5624860C>G	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.318C>G	11.37:g.5624860C>G						HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Intron|TRIM6_uc010qzj.1_5'UTR|TRIM6_uc001mbc.1_Silent_p.L106L|TRIM6_uc001mbe.2_5'UTR|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Silent_p.L134L|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	p.L134L	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	2	646	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	134					A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	ENST00000278302.5	37	c.402C>G	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	9.171	1.021211	0.19433	.	.	ENSG00000121236	ENST00000396867	.	.	.	4.18	-1.22	0.09494	.	.	.	.	.	T	0.54464	0.1860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52290	-0.8595	5	0.51188	T	0.08	.	4.9121	0.13827	0.0:0.3815:0.1554:0.463	.	.	.	.	V	14	.	ENSP00000380076:L14V	L	+	1	0	TRIM6	5581436	0.087000	0.21565	0.994000	0.49952	0.987000	0.75469	-0.660000	0.05317	-0.211000	0.10124	0.655000	0.94253	CTT		0.557	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2		NM_001003818		40	65	0	0	0	0.009718	0	40	65		
TAF10	6881	broad.mit.edu	37	11	6632638	6632638	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6632638C>T	ENST00000299424.4	-	3	910	c.433G>A	c.(433-435)Gag>Aag	p.E145K	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	145					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTGAGGCCTCAAAGCCAGCA	0.493																																						uc001mej.1		NaN																	0					0						c.(433-435)GAG>AAG		TBP-related factor 10							87.0	82.0	84.0					11																	6632638		2201	4296	6497	SO:0001583	missense	6881				histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity	g.chr11:6632638C>T	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.433G>A	11.37:g.6632638C>T	ENSP00000299424:p.Glu145Lys						p.E145K	NM_006284	NP_006275	Q12962	TAF10_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)	3	458	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)	145					O00703|Q13175|Q6FH13	Missense_Mutation	SNP	ENST00000299424.4	37	c.433G>A	CCDS7769.1	.	.	.	.	.	.	.	.	.	.	C	35	5.480024	0.96307	.	.	ENSG00000166337	ENST00000299424	T	0.49720	0.77	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.51736	0.1692	L	0.51422	1.61	0.80722	D	1	P	0.37548	0.599	P	0.45167	0.472	T	0.51537	-0.8693	10	0.46703	T	0.11	-15.5644	15.9359	0.79707	0.0:1.0:0.0:0.0	.	145	Q12962	TAF10_HUMAN	K	145	ENSP00000299424:E145K	ENSP00000299424:E145K	E	-	1	0	TAF10	6589214	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.977000	0.76141	2.618000	0.88619	0.591000	0.81541	GAG		0.493	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2		NM_006284		21	18	0	0	0	0.012319	0	21	18		
TAF10	6881	broad.mit.edu	37	11	6632654	6632654	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6632654C>T	ENST00000299424.4	-	3	894	c.417G>A	c.(415-417)ctG>ctA	p.L139L	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	139					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCACGGTTCAGGTAGTAAC	0.502																																						uc001mej.1		NaN																	0					0						c.(415-417)CTG>CTA		TBP-related factor 10							81.0	75.0	77.0					11																	6632654		2201	4296	6497	SO:0001819	synonymous_variant	6881				histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity	g.chr11:6632654C>T	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.417G>A	11.37:g.6632654C>T							p.L139L	NM_006284	NP_006275	Q12962	TAF10_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)	3	442	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)	139					O00703|Q13175|Q6FH13	Silent	SNP	ENST00000299424.4	37	c.417G>A	CCDS7769.1																																																																																				0.502	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2		NM_006284		18	15	0	0	0	0.007413	0	18	15		
DCHS1	8642	broad.mit.edu	37	11	6648801	6648801	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6648801C>G	ENST00000299441.3	-	14	5880	c.5469G>C	c.(5467-5469)ctG>ctC	p.L1823L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1823	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTATCCTCAGCTGGAAAG	0.577																																						uc001mem.1		NaN																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(5467-5469)CTG>CTC		dachsous 1 precursor							25.0	20.0	22.0					11																	6648801		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6648801C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5469G>C	11.37:g.6648801C>G							p.L1823L	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	14	5879	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1823			Cadherin 17.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000299441.3	37	c.5469G>C	CCDS7771.1																																																																																				0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737		9	16	0	0	0	0.006214	0	9	16		
DCHS1	8642	broad.mit.edu	37	11	6661224	6661225	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6661224_6661225CC>TA	ENST00000299441.3	-	2	2031_2032	c.1620_1621GG>TA	c.(1618-1623)ttGGaa>ttTAaa	p.540_541LE>FK		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTGAGGTTCCAACTCATAGT	0.569																																						uc001mem.1		NaN																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1618-1623)TTGGAA>TTTAAA		dachsous 1 precursor																																				SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661224_6661225CC>TA	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1620_1621delinsTA	11.37:g.6661224_6661225delinsTA	ENSP00000299441:p.L540_E541delinsFK						p.540_541LE>FK	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	2030_2031	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	540_541			Extracellular (Potential).|Cadherin 5.		O15098	Missense_Mutation	DNP	ENST00000299441.3	37	c.1620_1621GG>TA	CCDS7771.1																																																																																				0.569	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737		11	33	0	0	0	0.004672	0	11	33		
DCHS1	8642	broad.mit.edu	37	11	6661230	6661230	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6661230C>T	ENST00000299441.3	-	2	2026	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCCAACTCATAGTCCAGT	0.582																																						uc001mem.1		NaN																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1615-1617)GAG>AAG		dachsous 1 precursor							79.0	76.0	77.0					11																	6661230		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661230C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1615G>A	11.37:g.6661230C>T	ENSP00000299441:p.Glu539Lys						p.E539K	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	2025	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	539			Extracellular (Potential).|Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.1615G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613897	0.87359	.	.	ENSG00000166341	ENST00000299441	T	0.72394	-0.65	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.171581	0.27478	N	0.019199	D	0.88440	0.6437	M	0.93854	3.465	0.58432	D	0.999999	D	0.65815	0.995	D	0.80764	0.994	D	0.91235	0.5017	10	0.87932	D	0	.	18.0581	0.89369	0.0:1.0:0.0:0.0	.	539	Q96JQ0	PCD16_HUMAN	K	539	ENSP00000299441:E539K	ENSP00000299441:E539K	E	-	1	0	DCHS1	6617806	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.759000	0.85235	2.588000	0.87417	0.579000	0.79373	GAG		0.582	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737		11	33	0	0	0	0.003163	0	11	33		
MRPL17	63875	broad.mit.edu	37	11	6704022	6704022	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6704022C>T	ENST00000288937.6	-	2	303	c.199G>A	c.(199-201)Gac>Aac	p.D67N	MRPL17_ENST00000532676.1_5'Flank	NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	67					translation (GO:0006412)	mitochondrial inner membrane (GO:0005743)|ribosome (GO:0005840)	protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCGTTAGTGTCTCCCAGCTTC	0.532																																						uc001men.2		NaN																	0					0						c.(199-201)GAC>AAC		mitochondrial ribosomal protein L17 precursor							99.0	87.0	91.0					11																	6704022		2201	4296	6497	SO:0001583	missense	63875				translation	ribosome	protein domain specific binding|structural constituent of ribosome	g.chr11:6704022C>T	AB051620	CCDS31412.1	11p15.5-p15.4	2012-09-13				ENSG00000158042		"""Mitochondrial ribosomal proteins / large subunits"""	14053	protein-coding gene	gene with protein product		611830					Standard	NM_022061		Approved	RPML26, MRP-L26	uc001men.2	Q9NRX2		ENST00000288937.6:c.199G>A	11.37:g.6704022C>T	ENSP00000288937:p.Asp67Asn						p.D67N	NM_022061	NP_071344	Q9NRX2	RM17_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	2	304	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	67					D3DQU3|Q6IAH8|Q96Q53|Q9C066	Missense_Mutation	SNP	ENST00000288937.6	37	c.199G>A	CCDS31412.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928525	0.92389	.	.	ENSG00000158042	ENST00000288937	.	.	.	5.81	5.81	0.92471	.	0.101061	0.64402	D	0.000003	T	0.74473	0.3721	L	0.55481	1.735	0.58432	D	0.999999	B	0.27625	0.183	P	0.46253	0.509	T	0.71941	-0.4440	9	0.46703	T	0.11	-27.4502	15.7579	0.78051	0.0:1.0:0.0:0.0	.	67	Q9NRX2	RM17_HUMAN	N	67	.	ENSP00000288937:D67N	D	-	1	0	MRPL17	6660598	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.226000	0.78060	2.784000	0.95788	0.644000	0.83932	GAC		0.532	MRPL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384544.1		NM_022061		23	9	0	0	0	0.005443	0	23	9		
OLFML1	283298	broad.mit.edu	37	11	7509610	7509610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:7509610G>A	ENST00000329293.3	+	2	776	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Missense_Mutation_p.E128K|OLFML1_ENST00000528758.1_Intron	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	128						extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCAAGAAGCTGAAGAAGAGAA	0.458																																						uc001mfi.2		NaN																	0				ovary(2)	2						c.(382-384)GAA>AAA		olfactomedin-like 1 precursor							68.0	63.0	64.0					11																	7509610		2201	4296	6497	SO:0001583	missense	283298					extracellular region		g.chr11:7509610G>A	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.382G>A	11.37:g.7509610G>A	ENSP00000332511:p.Glu128Lys					uc001mff.1_Intron|OLFML1_uc001mfh.1_Missense_Mutation_p.E128K|OLFML1_uc010raz.1_Intron|OLFML1_uc010rba.1_Missense_Mutation_p.E128K	p.E128K	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	734	+			128			Potential.		B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	c.382G>A	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536915	0.27475	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.87729	-2.29;-2.29	5.47	5.47	0.80525	.	0.288956	0.31685	N	0.007223	D	0.83903	0.5355	M	0.61703	1.905	0.80722	D	1	B;B	0.15141	0.012;0.012	B;B	0.15052	0.012;0.012	T	0.78028	-0.2364	10	0.10377	T	0.69	.	14.8171	0.70041	0.0:0.0:1.0:0.0	.	128;128	Q6UWY5;Q5HYE3	OLFL1_HUMAN;.	K	128	ENSP00000433455:E128K;ENSP00000332511:E128K	ENSP00000332511:E128K	E	+	1	0	OLFML1	7466186	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.727000	0.68523	2.575000	0.86900	0.591000	0.81541	GAA		0.458	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1		NM_198474		7	15	0	0	0	0.00308	0	7	15		
EIF3F	8665	broad.mit.edu	37	11	8014480	8014480	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:8014480G>A	ENST00000533626.1	+	6	1188	c.562G>A	c.(562-564)Gag>Aag	p.E188K	EIF3F_ENST00000449102.2_Missense_Mutation_p.E39K|EIF3F_ENST00000309828.4_Missense_Mutation_p.E188K|EIF3F_ENST00000537635.1_Missense_Mutation_p.E203K					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTGATCCACGAGTACTACAG	0.542																																						uc001mfw.2		NaN																	0				lung(1)	1						c.(562-564)GAG>AAG		eukaryotic translation initiation factor 3,							122.0	108.0	113.0					11																	8014480		2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8014480G>A	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.562G>A	11.37:g.8014480G>A	ENSP00000431800:p.Glu188Lys					EIF3F_uc010rbj.1_Missense_Mutation_p.E39K	p.E188K	NM_003754	NP_003745	O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	4	595	+			188			MPN.			Missense_Mutation	SNP	ENST00000533626.1	37	c.562G>A	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587039	0.96578	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	M	0.63843	1.955	0.80722	D	1	D	0.62365	0.991	P	0.59221	0.854	T	0.69363	-0.5165	10	0.72032	D	0.01	-11.9577	16.8511	0.85994	0.0:0.0:1.0:0.0	.	188	O00303	EIF3F_HUMAN	K	188;203;188;138;39	ENSP00000431800:E188K;ENSP00000442283:E203K;ENSP00000310040:E188K;ENSP00000396929:E39K	ENSP00000310040:E188K	E	+	1	0	EIF3F	7971056	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.426000	0.97469	2.759000	0.94783	0.563000	0.77884	GAG		0.542	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2		NM_003754		62	46	0	0	0	0.01441	0	62	46		
SCUBE2	57758	broad.mit.edu	37	11	9088303	9088303	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:9088303C>A	ENST00000309263.3	-	6	773	c.701G>T	c.(700-702)gGc>gTc	p.G234V	RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.G234V|SCUBE2_ENST00000450649.2_Missense_Mutation_p.G234V|SCUBE2_ENST00000457346.2_Missense_Mutation_p.G234V			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	234	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCACTCTGGGCCATCGGCTGT	0.537																																						uc001mhh.1		NaN																	0				ovary(1)|skin(1)	2						c.(700-702)GGC>GTC		CEGP1 protein precursor							133.0	81.0	99.0					11																	9088303		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9088303C>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.701G>T	11.37:g.9088303C>A	ENSP00000310658:p.Gly234Val					SCUBE2_uc001mhi.1_Missense_Mutation_p.G234V|SCUBE2_uc001mhj.1_Missense_Mutation_p.G234V	p.G234V	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	6	781	-			234			EGF-like 5 (Potential).		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.701G>T		.	.	.	.	.	.	.	.	.	.	C	31	5.097076	0.94197	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.86	5.86	0.93980	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96021	0.8704	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96175	0.9126	10	0.87932	D	0	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	234;234;234	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	V	234	ENSP00000390481:G234V;ENSP00000310658:G234V;ENSP00000415187:G234V;ENSP00000429969:G234V	ENSP00000310658:G234V	G	-	2	0	SCUBE2	9044879	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	7.818000	0.86416	2.778000	0.95560	0.655000	0.94253	GGC		0.537	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2		NM_020974		16	10	1	0	5.35267e-07	0.007413	5.50488e-07	16	10		
IPO7	10527	broad.mit.edu	37	11	9424908	9424908	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:9424908G>C	ENST00000379719.3	+	2	298	c.156G>C	c.(154-156)gtG>gtC	p.V52V	IPO7_ENST00000533680.1_3'UTR	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	52	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATTTACCTGTGAGACAGGCAG	0.378																																						uc001mho.2		NaN																	0				lung(1)|breast(1)	2						c.(154-156)GTG>GTC		importin 7							93.0	84.0	87.0					11																	9424908		2201	4296	6497	SO:0001819	synonymous_variant	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9424908G>C	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.156G>C	11.37:g.9424908G>C							p.V52V	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	2	298	+			52			Importin N-terminal.		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	ENST00000379719.3	37	c.156G>C	CCDS31425.1																																																																																				0.378	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1		NM_006391		18	49	0	0	0	0.007413	0	18	49		
WEE1	7465	broad.mit.edu	37	11	9597434	9597434	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:9597434G>A	ENST00000450114.2	+	2	829		c.e2-1		WEE1_ENST00000299613.6_Splice_Site|snoU13_ENST00000458785.1_RNA	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase						blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TCTTTCCCTAGAGTTTGCTCT	0.413																																						uc001mhs.2		NaN																	0				central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5						c.e2-1		WEE1 tyrosine kinase isoform 1							55.0	58.0	57.0					11																	9597434		2201	4294	6495	SO:0001630	splice_region_variant	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9597434G>A	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.577-1G>A	11.37:g.9597434G>A						WEE1_uc001mht.2_Splice_Site|WEE1_uc001mhu.2_5'UTR	p.S193_splice	NM_003390	NP_003381	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	2	830	+								B3KVE1|D3DQV0	Splice_Site	SNP	ENST00000450114.2	37	c.577_splice	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741486	0.69304	.	.	ENSG00000166483	ENST00000450114	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5293	0.87809	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WEE1	9554010	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	8.082000	0.89513	2.173000	0.68751	0.561000	0.74099	.		0.413	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1		NM_003390	Intron	10	56	0	0	0	0.006214	0	10	56		
WEE1	7465	broad.mit.edu	37	11	9598771	9598771	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:9598771G>A	ENST00000450114.2	+	5	1355	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	WEE1_ENST00000299613.6_Missense_Mutation_p.E154K|snoU13_ENST00000458785.1_RNA	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	368	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TGCGTGGGCAGAAGATGATCA	0.373																																						uc001mhs.2		NaN																	0				central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5						c.(1102-1104)GAA>AAA		WEE1 tyrosine kinase isoform 1							157.0	152.0	154.0					11																	9598771		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9598771G>A	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1102G>A	11.37:g.9598771G>A	ENSP00000402084:p.Glu368Lys					WEE1_uc001mht.2_Missense_Mutation_p.E154K|WEE1_uc001mhu.2_Missense_Mutation_p.E154K	p.E368K	NM_003390	NP_003381	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	5	1355	+			368			Protein kinase.		B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.1102G>A	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	G	36	5.604042	0.96626	.	.	ENSG00000166483	ENST00000450114;ENST00000299613	T;T	0.65916	-0.18;-0.18	5.63	4.72	0.59763	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.79899	-0.1608	10	0.39692	T	0.17	-11.6722	14.6708	0.68942	0.0698:0.0:0.9302:0.0	.	176;368	Q6MZL0;P30291	.;WEE1_HUMAN	K	368;154	ENSP00000402084:E368K;ENSP00000299613:E154K	ENSP00000299613:E154K	E	+	1	0	WEE1	9555347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.615000	0.83006	1.513000	0.48852	0.655000	0.94253	GAA		0.373	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1		NM_003390		24	138	0	0	0	0.003954	0	24	138		
EIF4G2	1982	broad.mit.edu	37	11	10822517	10822517	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:10822517G>A	ENST00000526148.1	-	15	2041	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	EIF4G2_ENST00000339995.5_Silent_p.L511L|SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.L473L|EIF4G2_ENST00000525681.1_Silent_p.L511L	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACCTGTCCCAGAGGTGGTGTT	0.413																																						uc001mjc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1531-1533)CTG>TTG		eukaryotic translation initiation factor 4							215.0	202.0	207.0					11																	10822517		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10822517G>A	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1531C>T	11.37:g.10822517G>A						EIF4G2_uc001mjb.2_Silent_p.L305L|EIF4G2_uc009ygf.2_Silent_p.L305L|EIF4G2_uc001mjd.2_Silent_p.L473L|EIF4G2_uc001mjf.1_Silent_p.L267L	p.L511L	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	15	1948	-			511						Silent	SNP	ENST00000526148.1	37	c.1531C>T	CCDS31428.1																																																																																				0.413	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418		38	134	0	0	0	0.004878	0	38	134		
PLEKHA7	144100	broad.mit.edu	37	11	16838617	16838617	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:16838617G>C	ENST00000355661.3	-	11	1606	c.1596C>G	c.(1594-1596)ttC>ttG	p.F532L	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.F532L|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.F532L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	532					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGCCGTGCCGGAACTGCTGGC	0.677																																						uc001mmo.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(1594-1596)TTC>TTG		pleckstrin homology domain containing, family A							31.0	34.0	33.0					11																	16838617		2198	4291	6489	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16838617G>C	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1596C>G	11.37:g.16838617G>C	ENSP00000347883:p.Phe532Leu					PLEKHA7_uc010rcu.1_Missense_Mutation_p.F532L|PLEKHA7_uc010rcv.1_Missense_Mutation_p.F106L|PLEKHA7_uc001mmn.2_Missense_Mutation_p.F240L	p.F532L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			11	1611	-			532					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.1596C>G	CCDS31434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.935371|3.935371	0.73442|0.73442	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080|ENST00000530489	T;T;T|.	0.38240|.	1.15;1.15;1.15|.	5.1|5.1	4.18|4.18	0.49190|0.49190	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71443|0.71443	0.3340|0.3340	M|M	0.74881|0.74881	2.28|2.28	0.48236|0.48236	D|D	0.99961|0.99961	D;D;D;D|.	0.89917|.	0.998;0.994;0.997;1.0|.	D;P;D;D|.	0.91635|.	0.948;0.89;0.97;0.999|.	T|T	0.71922|0.71922	-0.4446|-0.4446	10|5	0.72032|.	D|.	0.01|.	-20.3395|-20.3395	11.1035|11.1035	0.48188|0.48188	0.1836:0.0:0.8164:0.0|0.1836:0.0:0.8164:0.0	.|.	106;532;532;532|.	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2|.	.;.;PKHA7_HUMAN;.|.	L|C	532|163	ENSP00000435389:F532L;ENSP00000347883:F532L;ENSP00000416895:F532L|.	ENSP00000347883:F532L|.	F|S	-|-	3|2	2|0	PLEKHA7|PLEKHA7	16795193|16795193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.862000|0.862000	0.49288|0.49288	2.302000|2.302000	0.43637|0.43637	2.381000|2.381000	0.81170|0.81170	0.563000|0.563000	0.77884|0.77884	TTC|TCC		0.677	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2		NM_175058		11	20	0	0	0	0.010729	0	11	20		
PIK3C2A	5286	broad.mit.edu	37	11	17121480	17121480	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:17121480G>C	ENST00000265970.7	-	25	4044	c.4045C>G	c.(4045-4047)Caa>Gaa	p.Q1349E	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q969E|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1349	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTCAAATCTTGAATACTTGTA	0.333																																						uc001mmq.3		NaN																	0				lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(4045-4047)CAA>GAA		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						108.0	110.0	109.0					11																	17121480		2200	4292	6492	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17121480G>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4045C>G	11.37:g.17121480G>C	ENSP00000265970:p.Gln1349Glu					PIK3C2A_uc009ygu.1_5'UTR|PIK3C2A_uc010rcw.1_Missense_Mutation_p.Q969E|PIK3C2A_uc001mmr.3_Intron	p.Q1349E	NM_002645	NP_002636	O00443	P3C2A_HUMAN			25	4111	-			1349			PI3K/PI4K.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4045C>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	5.193	0.221228	0.09863	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.79247	-1.25;-1.25	5.43	5.43	0.79202	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.165075	0.56097	D	0.000027	T	0.49677	0.1571	N	0.00855	-1.145	0.58432	D	0.999995	B	0.23650	0.089	B	0.25506	0.061	T	0.59257	-0.7488	10	0.02654	T	1	0.0089	19.6092	0.95599	0.0:0.0:1.0:0.0	.	1349	O00443	P3C2A_HUMAN	E	1349;969	ENSP00000265970:Q1349E;ENSP00000438687:Q969E	ENSP00000265970:Q1349E	Q	-	1	0	PIK3C2A	17078056	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.459000	0.73513	2.711000	0.92665	0.655000	0.94253	CAA		0.333	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1		NM_002645		22	88	0	0	0	0.014323	0	22	88		
SAA4	6291	broad.mit.edu	37	11	18253209	18253209	+	Missense_Mutation	SNP	C	C	T	rs201435531		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:18253209C>T	ENST00000278222.4	-	4	413	c.233G>A	c.(232-234)cGt>cAt	p.R78H	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	78					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GACCCTGGAACGGCTGCAACC	0.488																																						uc001mny.2		NaN																	0					0						c.(232-234)CGT>CAT		serum amyloid A4, constitutive precursor							54.0	53.0	53.0					11																	18253209		2199	4293	6492	SO:0001583	missense	6291				acute-phase response	high-density lipoprotein particle		g.chr11:18253209C>T	M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.233G>A	11.37:g.18253209C>T	ENSP00000278222:p.Arg78His						p.R78H	NM_006512	NP_006503	P35542	SAA4_HUMAN			4	329	-			78					Q6FHJ4	Missense_Mutation	SNP	ENST00000278222.4	37	c.233G>A	CCDS7832.1	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111533	0.20714	.	.	ENSG00000148965	ENST00000278222	T	0.09445	2.98	2.86	0.199	0.15175	.	.	.	.	.	T	0.05181	0.0138	N	0.19112	0.55	0.09310	N	1	P	0.47350	0.894	B	0.36567	0.228	T	0.32348	-0.9910	9	0.56958	D	0.05	.	3.0811	0.06262	0.0:0.1712:0.267:0.5617	.	78	P35542	SAA4_HUMAN	H	78	ENSP00000278222:R78H	ENSP00000278222:R78H	R	-	2	0	SAA4	18209785	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.464000	0.21988	-0.093000	0.12396	-0.373000	0.07131	CGT		0.488	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389988.1		NM_006512		8	47	0	0	0	0.00308	0	8	47		
CSRP3	8048	broad.mit.edu	37	11	19204293	19204293	+	Splice_Site	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:19204293A>T	ENST00000533783.1	-	7	749	c.509T>A	c.(508-510)gTt>gAt	p.V170D	CSRP3_ENST00000265968.3_Splice_Site_p.V170D	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	170	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						GGCATAGCAAACTGTGAATGA	0.428																																						uc001mpk.2		NaN																	0					0						c.(508-510)GTT>GAT		cysteine and glycine-rich protein 3							91.0	93.0	92.0					11																	19204293		2199	4293	6492	SO:0001630	splice_region_variant	8048				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding	g.chr11:19204293A>T	U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.509-1T>A	11.37:g.19204293A>T							p.V170D	NM_003476	NP_003467	P50461	CSRP3_HUMAN			6	626	-			170			LIM zinc-binding 2.		Q9P131	Missense_Mutation	SNP	ENST00000533783.1	37	c.509T>A	CCDS7848.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315353	0.60524	.	.	ENSG00000129170	ENST00000265968;ENST00000533783	D;D	0.94576	-3.46;-3.46	6.06	6.06	0.98353	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.90013	0.6882	N	0.12831	0.26	0.80722	D	1	B	0.29805	0.257	B	0.36030	0.216	D	0.88186	0.2874	10	0.39692	T	0.17	.	16.2708	0.82618	1.0:0.0:0.0:0.0	.	170	P50461	CSRP3_HUMAN	D	170	ENSP00000265968:V170D;ENSP00000431813:V170D	ENSP00000265968:V170D	V	-	2	0	CSRP3	19160869	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.782000	0.62396	2.324000	0.78689	0.533000	0.62120	GTT		0.428	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1		NM_003476	Missense_Mutation	24	65	0	0	0	0.00333	0	24	65		
FANCF	2188	broad.mit.edu	37	11	22646239	22646239	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:22646239G>A	ENST00000327470.3	-	1	1148	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	373					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TGCCTATACAGAACTGAGGCC	0.383			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001mql.1		NaN	yes	Rec		Fanconi anaemia F	11	11p15	2188	N|F	"""Fanconi anemia, complementation group F"""			L		AML|leukemia			0				skin(1)	1						c.(1117-1119)TCT>TTT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group F							86.0	81.0	83.0					11																	22646239		2203	4300	6503	SO:0001583	missense	2188	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22646239G>A		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.1118C>T	11.37:g.22646239G>A	ENSP00000330875:p.Ser373Phe						p.S373F	NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN			1	1149	-			373					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.1118C>T	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558747	0.45590	.	.	ENSG00000183161	ENST00000327470	T	0.34472	1.36	4.18	0.247	0.15521	.	0.801076	0.09682	U	0.769591	T	0.21468	0.0517	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.26430	-1.0103	10	0.87932	D	0	.	3.594	0.08000	0.3176:0.1919:0.4906:0.0	.	373	Q9NPI8	FANCF_HUMAN	F	373	ENSP00000330875:S373F	ENSP00000330875:S373F	S	-	2	0	FANCF	22602815	0.001000	0.12720	0.000000	0.03702	0.168000	0.22595	0.350000	0.20079	0.052000	0.16007	0.561000	0.74099	TCT		0.383	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2		NM_022725		42	56	0	0	0	0.010771	0	42	56		
GAS2	2620	broad.mit.edu	37	11	22707331	22707331	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:22707331C>T	ENST00000454584.2	+	3	568	c.263C>T	c.(262-264)aCa>aTa	p.T88I	GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000433790.1_Missense_Mutation_p.T88I|GAS2_ENST00000278187.3_Missense_Mutation_p.T88I|RNA5SP338_ENST00000410495.1_RNA	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	88	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AACAAGCCCACAAAGGTAAAA	0.358																																						uc009yie.2		NaN																	0				ovary(1)|skin(1)	2						c.(262-264)ACA>ATA		growth arrest-specific 2							70.0	65.0	66.0					11																	22707331		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22707331C>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.263C>T	11.37:g.22707331C>T	ENSP00000401145:p.Thr88Ile					GAS2_uc001mqm.2_Missense_Mutation_p.T88I|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.T88I	p.T88I	NM_001143830	NP_001137302	O43903	GAS2_HUMAN			3	569	+			88			CH.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.263C>T	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	8.999	0.979741	0.18812	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	T;T;T;T;T	0.46451	0.89;0.87;0.87;0.9;0.87	5.42	3.16	0.36331	Calponin homology domain (5);	1.100710	0.06887	N	0.803622	T	0.25344	0.0616	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.15607	-1.0431	10	0.36615	T	0.2	0.1213	4.5614	0.12161	0.0:0.5145:0.2462:0.2394	.	88	O43903	GAS2_HUMAN	I	88	ENSP00000432584:T88I;ENSP00000401145:T88I;ENSP00000278187:T88I;ENSP00000435946:T88I;ENSP00000396708:T88I	ENSP00000278187:T88I	T	+	2	0	GAS2	22663907	0.000000	0.05858	0.357000	0.25798	0.762000	0.43233	0.412000	0.21131	1.429000	0.47314	0.655000	0.94253	ACA		0.358	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1		NM_177553		29	32	0	0	0	0.00632	0	29	32		
LUZP2	338645	broad.mit.edu	37	11	25004745	25004745	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:25004745C>A	ENST00000336930.6	+	9	737	c.671C>A	c.(670-672)cCc>cAc	p.P224H	LUZP2_ENST00000533227.1_Missense_Mutation_p.P138H			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	224	Poly-Pro.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAGCCTCCTCCCCCTTTGAGT	0.448																																						uc001mqs.2		NaN																	0				ovary(1)|skin(1)	2						c.(670-672)CCC>CAC		leucine zipper protein 2 precursor							194.0	162.0	173.0					11																	25004745		2203	4300	6503	SO:0001583	missense	338645					extracellular region		g.chr11:25004745C>A	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.671C>A	11.37:g.25004745C>A	ENSP00000336817:p.Pro224His					LUZP2_uc009yif.2_Missense_Mutation_p.P138H|LUZP2_uc009yig.2_Missense_Mutation_p.P182H	p.P224H	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN			9	905	+			224			Poly-Pro.		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.671C>A	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765286	0.49574	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.81415	-1.49;0.84	5.53	4.62	0.57501	.	0.740680	0.13100	N	0.413847	T	0.82144	0.4973	N	0.24115	0.695	0.30434	N	0.776869	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.943	T	0.78927	-0.2011	10	0.72032	D	0.01	-1.6089	12.5085	0.55995	0.0:0.9185:0.0:0.0814	.	138;224	E9PN53;Q86TE4	.;LUZP2_HUMAN	H	224;138	ENSP00000336817:P224H;ENSP00000432952:P138H	ENSP00000336817:P224H	P	+	2	0	LUZP2	24961321	0.995000	0.38212	0.331000	0.25455	0.286000	0.27126	3.782000	0.55401	1.488000	0.48433	0.650000	0.86243	CCC		0.448	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1		NM_001009909		82	80	1	0	4.41824e-40	0.01441	4.69519e-40	82	80		
ANO3	63982	broad.mit.edu	37	11	26465320	26465320	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:26465320G>A	ENST00000256737.3	+	3	1102	c.250G>A	c.(250-252)Gag>Aag	p.E84K	ANO3_ENST00000531646.1_Missense_Mutation_p.E84K|ANO3_ENST00000525139.1_Missense_Mutation_p.E68K|ANO3_ENST00000537978.1_Missense_Mutation_p.E68K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	84					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGTTAATACTGAGGAGAATAA	0.338																																						uc001mqt.3		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(250-252)GAG>AAG		transmembrane protein 16C							98.0	97.0	98.0					11																	26465320		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26465320G>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.250G>A	11.37:g.26465320G>A	ENSP00000256737:p.Glu84Lys					ANO3_uc010rdr.1_Missense_Mutation_p.E68K	p.E84K	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			3	395	+			84			Cytoplasmic (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.250G>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836910	0.50951	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.72	4.72	0.59763	.	0.064020	0.64402	D	0.000014	T	0.50326	0.1609	L	0.43152	1.355	0.23802	N	0.996804	B	0.02656	0.0	B	0.04013	0.001	T	0.26916	-1.0089	10	0.08599	T	0.76	.	13.9049	0.63828	0.0:0.0:1.0:0.0	.	84	Q9BYT9	ANO3_HUMAN	K	68;68;84;84	ENSP00000440737:E68K;ENSP00000432576:E68K;ENSP00000256737:E84K;ENSP00000435275:E84K	ENSP00000256737:E84K	E	+	1	0	ANO3	26421896	0.490000	0.26012	0.170000	0.22879	0.036000	0.12997	2.221000	0.42917	2.550000	0.86006	0.591000	0.81541	GAG		0.338	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1		NM_031418		10	28	0	0	0	0.010729	0	10	28		
NAT10	55226	broad.mit.edu	37	11	34167693	34167693	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:34167693G>C	ENST00000257829.3	+	29	3238	c.3032G>C	c.(3031-3033)aGa>aCa	p.R1011T	NAT10_ENST00000531159.2_Missense_Mutation_p.R939T|NAT10_ENST00000532555.1_3'UTR|NAT10_ENST00000527971.1_Missense_Mutation_p.R274T	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	1011	Lys-rich.|Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TTGAAGAACAGAGAGACAAAG	0.358																																						uc001mvk.2		NaN																	0				ovary(1)|skin(1)	2						c.(3031-3033)AGA>ACA		N-acetyltransferase 10 isoform a							96.0	107.0	103.0					11																	34167693		2201	4298	6499	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34167693G>C	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.3032G>C	11.37:g.34167693G>C	ENSP00000257829:p.Arg1011Thr					NAT10_uc010ren.1_Missense_Mutation_p.R939T	p.R1011T	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN			29	3276	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	1011			Lys-rich.|Required for localization to the nucleolus and midbody.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.3032G>C	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	6.686	0.495151	0.12762	.	.	ENSG00000135372	ENST00000257829;ENST00000531159;ENST00000527971	T;T	0.30981	1.51;1.52	4.42	3.51	0.40186	.	0.163302	0.52532	D	0.000075	T	0.17323	0.0416	N	0.22421	0.69	0.22620	N	0.998928	B	0.17667	0.023	B	0.15870	0.014	T	0.12502	-1.0545	10	0.30854	T	0.27	-1.715	5.8239	0.18542	0.333:0.0:0.667:0.0	.	1011	Q9H0A0	NAT10_HUMAN	T	1011;939;274	ENSP00000257829:R1011T;ENSP00000433011:R939T	ENSP00000257829:R1011T	R	+	2	0	NAT10	34124269	1.000000	0.71417	0.998000	0.56505	0.040000	0.13550	2.343000	0.44001	1.211000	0.43351	-0.224000	0.12420	AGA		0.358	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1		NM_024662		3	15	0	0	0	0.004672	0	3	15		
EHF	26298	broad.mit.edu	37	11	34680084	34680084	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:34680084G>A	ENST00000533754.1	+	8	829	c.612G>A	c.(610-612)ccG>ccA	p.P204P	EHF_ENST00000530286.1_Silent_p.P204P|EHF_ENST00000531794.1_Silent_p.P226P|EHF_ENST00000450654.2_Silent_p.P181P|EHF_ENST00000257831.3_Silent_p.P204P					ets homologous factor									p.P204P(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CATCAGACCCGAGAGGGACTC	0.468																																						uc001mvr.1		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(610-612)CCG>CCA		ets homologous factor							68.0	70.0	69.0					11																	34680084		2202	4298	6500	SO:0001819	synonymous_variant	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34680084G>A	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.612G>A	11.37:g.34680084G>A						EHF_uc009yke.1_Silent_p.P181P|EHF_uc009ykf.1_Silent_p.P207P	p.P204P	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		8	723	+		all_hematologic(20;0.117)	204						Silent	SNP	ENST00000533754.1	37	c.612G>A	CCDS7894.1																																																																																				0.468	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1		NM_012153		50	33	0	0	0	0.01441	0	50	33		
CRY2	1408	broad.mit.edu	37	11	45889168	45889168	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:45889168G>C	ENST00000443527.2	+	6	832	c.810G>C	c.(808-810)tgG>tgC	p.W270C	CRY2_ENST00000417225.2_Missense_Mutation_p.W188C	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	249					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TGTAGGCCTGGGTTGCCAACT	0.557																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	uc010rgn.1		NaN																	0				central_nervous_system(1)	1						c.(808-810)TGG>TGC		cryptochrome 2 (photolyase-like) isoform 1							106.0	102.0	103.0					11																	45889168		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45889168G>C	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.810G>C	11.37:g.45889168G>C	ENSP00000406751:p.Trp270Cys					CRY2_uc009ykw.2_Missense_Mutation_p.W188C|CRY2_uc010rgo.1_5'UTR	p.W270C	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN			6	832	+			249			FAD-binding.		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.810G>C	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268405	0.80469	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.958;0.99	T	0.83129	-0.0114	9	0.72032	D	0.01	-14.0225	18.1032	0.89512	0.0:0.0:1.0:0.0	.	270;188	B4DZD6;Q49AN0-2	.;.	C	188;270	.	ENSP00000397419:W188C	W	+	3	0	CRY2	45845744	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.004000	0.88535	2.263000	0.75096	0.561000	0.74099	TGG		0.557	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2		NM_021117		26	75	0	0	0	0.005443	0	26	75		
AMBRA1	55626	broad.mit.edu	37	11	46563761	46563761	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:46563761G>A	ENST00000458649.2	-	7	2224	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V	AMBRA1_ENST00000426438.1_Silent_p.V602V|AMBRA1_ENST00000533727.1_Silent_p.V512V|AMBRA1_ENST00000534300.1_Silent_p.V602V|AMBRA1_ENST00000314845.3_Silent_p.V512V|AMBRA1_ENST00000298834.3_Silent_p.V602V|AMBRA1_ENST00000528950.1_Silent_p.V602V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	602	Ser-rich.				autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGGAGCTGGGGACCTGCCAAG	0.582																																						uc010rgu.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1804-1806)GTC>GTT		activating molecule in beclin-1-regulated							49.0	42.0	44.0					11																	46563761		2201	4299	6500	SO:0001819	synonymous_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46563761G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1806C>T	11.37:g.46563761G>A						AMBRA1_uc010rgt.1_Silent_p.V168V|AMBRA1_uc009ylc.1_Silent_p.V602V|AMBRA1_uc001ncu.1_Silent_p.V512V|AMBRA1_uc001ncv.2_Silent_p.V512V|AMBRA1_uc001ncw.2_Silent_p.V512V|AMBRA1_uc001ncx.2_Silent_p.V602V	p.V602V	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	2166	-			602			Ser-rich.		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37	c.1806C>T																																																																																					0.582	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1		NM_017749		8	28	0	0	0	0.006214	0	8	28		
F2	2147	broad.mit.edu	37	11	46749600	46749600	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:46749600C>T	ENST00000311907.5	+	10	1241	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	F2_ENST00000530231.1_Silent_p.L395L	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	395	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GGGCCAGCCTCATCAGTGACC	0.627																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	uc001ndf.3		NaN																	0				ovary(3)	3						c.(1183-1185)CTC>CTT		coagulation factor II preproprotein	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						41.0	38.0	39.0					11																	46749600		2201	4299	6500	SO:0001819	synonymous_variant	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46749600C>T	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1185C>T	11.37:g.46749600C>T						F2_uc001ndg.3_RNA	p.L395L	NM_000506	NP_000497	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	10	1228	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	395			Peptidase S1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Silent	SNP	ENST00000311907.5	37	c.1185C>T	CCDS31476.1																																																																																				0.627	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1				4	12	0	0	0	0.009096	0	4	12		
LRP4	4038	broad.mit.edu	37	11	46890629	46890629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:46890629C>T	ENST00000378623.1	-	32	4989	c.4747G>A	c.(4747-4749)Gac>Aac	p.D1583N	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1583					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GAGTATTTGTCAACACGCTGG	0.507																																						uc001ndn.3		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(4747-4749)GAC>AAC		low density lipoprotein receptor-related protein							185.0	145.0	159.0					11																	46890629		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46890629C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4747G>A	11.37:g.46890629C>T	ENSP00000367888:p.Asp1583Asn					uc001ndl.2_Intron	p.D1583N	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	32	4893	-			1583			Extracellular (Potential).|LDL-receptor class B 20.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.4747G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.384825	0.82792	.	.	ENSG00000134569	ENST00000378623	D	0.92752	-3.1	6.06	6.06	0.98353	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.90352	0.6981	N	0.21142	0.635	0.80722	D	1	P	0.51351	0.944	P	0.54759	0.76	D	0.85059	0.0933	10	0.02654	T	1	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1583	O75096	LRP4_HUMAN	N	1583	ENSP00000367888:D1583N	ENSP00000367888:D1583N	D	-	1	0	LRP4	46847205	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.986000	0.70563	2.882000	0.98803	0.655000	0.94253	GAC		0.507	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1		NM_002334		21	35	0	0	0	0.010504	0	21	35		
MYBPC3	4607	broad.mit.edu	37	11	47354825	47354825	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:47354825G>A	ENST00000545968.1	-	30	3304	c.3250C>T	c.(3250-3252)Ctg>Ttg	p.L1084L	MYBPC3_ENST00000256993.4_Silent_p.L1083L|MYBPC3_ENST00000399249.2_Silent_p.L1084L	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1084	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TTCCACTCCAGAGCCACATTA	0.617																																						uc001nfa.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3250-3252)CTG>TTG		myosin binding protein C, cardiac							34.0	38.0	36.0					11																	47354825		1957	4142	6099	SO:0001819	synonymous_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47354825G>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3250C>T	11.37:g.47354825G>A							p.L1084L	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	29	3305	-			1083			Fibronectin type-III 3.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.3250C>T	CCDS53621.1																																																																																				0.617	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3				7	1	0	0	0	0.00308	0	7	1		
SLC39A13	91252	broad.mit.edu	37	11	47433961	47433961	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:47433961G>A	ENST00000362021.4	+	4	522	c.480G>A	c.(478-480)ctG>ctA	p.L160L	SLC39A13_ENST00000524928.1_Silent_p.L160L|SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000354884.4_Silent_p.L160L|SLC39A13_ENST00000533076.1_Silent_p.L160L	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	160					cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		CTGGCATCCTGACCTTCCTGG	0.637											OREG0020959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009ylq.2		NaN																	0					0						c.(478-480)CTG>CTA		solute carrier family 39 (zinc transporter),							59.0	52.0	55.0					11																	47433961		2201	4298	6499	SO:0001819	synonymous_variant	91252				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr11:47433961G>A		CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"""Solute carriers"""	20859	protein-coding gene	gene with protein product		608735	"""solute carrier family 39 (metal ion transporter), member 13"""			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.480G>A	11.37:g.47433961G>A			OREG0020959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	946	SLC39A13_uc001nfd.2_Silent_p.L160L|SLC39A13_uc001nfe.1_RNA|SLC39A13_uc001nff.3_Silent_p.L160L|SLC39A13_uc001nfg.3_Silent_p.L160L	p.L160L	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN		Lung(87;0.0936)	4	651	+			160			Helical; (Potential).		D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Silent	SNP	ENST00000362021.4	37	c.480G>A	CCDS44592.1																																																																																				0.637	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1		NM_152264		12	22	0	0	0	0.010729	0	12	22		
AGBL2	79841	broad.mit.edu	37	11	47721019	47721019	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:47721019C>T	ENST00000525123.1	-	8	958	c.673G>A	c.(673-675)Gtt>Att	p.V225I	AGBL2_ENST00000298861.4_Missense_Mutation_p.V225I|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.V187I|AGBL2_ENST00000357610.3_Missense_Mutation_p.V225I	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	225						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TGATAGACAACTGTTCCTTTT	0.333																																						uc001ngg.2		NaN																	0				ovary(2)	2						c.(673-675)GTT>ATT		carboxypeptidase 2, cytosolic							191.0	180.0	184.0					11																	47721019		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47721019C>T		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.673G>A	11.37:g.47721019C>T	ENSP00000435582:p.Val225Ile					AGBL2_uc010rhq.1_Missense_Mutation_p.V187I|AGBL2_uc001ngh.1_Missense_Mutation_p.V169I	p.V225I	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN			7	773	-			225					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.673G>A	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893879	0.52121	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.22	1.27	0.21489	.	0.180712	0.47852	N	0.000204	T	0.47358	0.1441	L	0.49350	1.555	0.23886	N	0.996563	B;B;B	0.30511	0.282;0.185;0.185	B;B;B	0.37346	0.247;0.125;0.176	T	0.42015	-0.9476	10	0.42905	T	0.14	-9.4662	9.8019	0.40770	0.0:0.7198:0.0:0.2802	.	187;187;225	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	I	225;225;225;187;169;169	ENSP00000435582:V225I;ENSP00000350228:V225I;ENSP00000298861:V225I;ENSP00000436630:V187I;ENSP00000436063:V169I	ENSP00000298861:V225I	V	-	1	0	AGBL2	47677595	0.407000	0.25352	0.986000	0.45419	0.909000	0.53808	0.678000	0.25277	-0.007000	0.14345	0.393000	0.25936	GTT		0.333	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2		NM_024783		21	74	0	0	0	0.014323	0	21	74		
OR8J3	81168	broad.mit.edu	37	11	55904807	55904807	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:55904807G>C	ENST00000301529.1	-	1	387	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATGTAGAGCAGAGGGTTACAA	0.507																																						uc010riz.1		NaN																	0				skin(2)	2						c.(388-390)CTG>GTG		olfactory receptor, family 8, subfamily J,							138.0	129.0	132.0					11																	55904807		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904807G>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.388C>G	11.37:g.55904807G>C	ENSP00000301529:p.Leu130Val						p.L130V	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	388	-	Esophageal squamous(21;0.00693)		130			Cytoplasmic (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.388C>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414794	0.62511	.	.	ENSG00000167822	ENST00000301529	T	0.01484	4.84	3.26	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000218	T	0.14787	0.0357	H	0.96333	3.805	0.31193	N	0.700704	D	0.76494	0.999	D	0.87578	0.998	T	0.18178	-1.0345	10	0.87932	D	0	.	11.4847	0.50346	0.0:0.1836:0.8164:0.0	.	130	Q8NGG0	OR8J3_HUMAN	V	130	ENSP00000301529:L130V	ENSP00000301529:L130V	L	-	1	2	OR8J3	55661383	0.778000	0.28640	0.983000	0.44433	0.800000	0.45204	0.925000	0.28791	1.548000	0.49413	0.289000	0.19496	CTG		0.507	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1		NM_001004064		20	105	0	0	0	0.005443	0	20	105		
OR5T2	219464	broad.mit.edu	37	11	56000467	56000467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:56000467G>C	ENST00000313264.4	-	1	270	c.195C>G	c.(193-195)atC>atG	p.I65M		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GGAAGAAGAAGATAGTCTGCA	0.388																																						uc010rjc.1		NaN																	0				ovary(2)	2						c.(193-195)ATC>ATG		olfactory receptor, family 5, subfamily T,							72.0	64.0	67.0					11																	56000467		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000467G>C	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.195C>G	11.37:g.56000467G>C	ENSP00000323688:p.Ile65Met						p.I65M	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	195	-	Esophageal squamous(21;0.00448)		65			Helical; Name=1; (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.195C>G	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	G	9.622	1.134220	0.21123	.	.	ENSG00000181718	ENST00000313264	T	0.00448	7.38	4.77	0.439	0.16567	.	0.489229	0.15091	U	0.281100	T	0.00300	0.0009	L	0.46819	1.47	0.09310	N	1	B	0.25007	0.116	B	0.29353	0.101	T	0.38112	-0.9676	10	0.32370	T	0.25	.	3.7026	0.08389	0.0771:0.2641:0.3874:0.2714	.	65	Q8NGG2	OR5T2_HUMAN	M	65	ENSP00000323688:I65M	ENSP00000323688:I65M	I	-	3	3	OR5T2	55757043	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.609000	0.00886	-0.083000	0.12618	0.458000	0.33432	ATC		0.388	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1		NM_001004746		32	46	0	0	0	0.008361	0	32	46		
OR5M3	219482	broad.mit.edu	37	11	56237065	56237065	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:56237065G>A	ENST00000312240.2	-	1	949	c.909C>T	c.(907-909)atC>atT	p.I303I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATGATCTGCTGATCACTTTCA	0.343																																						uc010rjk.1		NaN																	0				ovary(2)	2						c.(907-909)ATC>ATT		olfactory receptor, family 5, subfamily M,							17.0	19.0	19.0					11																	56237065		2186	4232	6418	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237065G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.909C>T	11.37:g.56237065G>A							p.I303I	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	909	-	Esophageal squamous(21;0.00448)		303			Cytoplasmic (Potential).		B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.909C>T	CCDS31532.1																																																																																				0.343	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1		NM_001004742		18	25	0	0	0	0.00333	0	18	25		
OR5M3	219482	broad.mit.edu	37	11	56237767	56237767	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:56237767C>T	ENST00000312240.2	-	1	247	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AAGAAAACCACACATCAACAA	0.388																																						uc010rjk.1		NaN																	0				ovary(2)	2						c.(205-207)GTG>GTA		olfactory receptor, family 5, subfamily M,							114.0	100.0	105.0					11																	56237767		2201	4296	6497	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237767C>T	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.207G>A	11.37:g.56237767C>T							p.V69V	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	207	-	Esophageal squamous(21;0.00448)		69			Helical; Name=2; (Potential).		B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.207G>A	CCDS31532.1																																																																																				0.388	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1		NM_001004742		54	87	0	0	0	0.01441	0	54	87		
RTN4RL2	349667	broad.mit.edu	37	11	57243799	57243799	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:57243799C>T	ENST00000335099.3	+	3	995	c.678C>T	c.(676-678)ctC>ctT	p.L226L	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCCGCGGCCTCAGCCGCCTCA	0.706																																						uc010rjt.1		NaN																	0					0						c.(676-678)CTC>CTT		reticulon 4 receptor-like 2 precursor							15.0	19.0	17.0					11																	57243799		2193	4276	6469	SO:0001819	synonymous_variant	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57243799C>T	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.678C>T	11.37:g.57243799C>T							p.L226L	NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN			3	678	+			226						Silent	SNP	ENST00000335099.3	37	c.678C>T	CCDS7957.1																																																																																				0.706	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392537.1		NM_178570		6	8	0	0	0	0.001855	0	6	8		
DTX4	23220	broad.mit.edu	37	11	58940200	58940200	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:58940200G>A	ENST00000227451.3	+	1	236	c.132G>A	c.(130-132)gtG>gtA	p.V44V	DTX4_ENST00000532982.1_Intron	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	44	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ggggcAGCGTGGTGCTGGGCC	0.706																																						uc001nns.2		NaN																	0				lung(2)|central_nervous_system(1)	3						c.(130-132)GTG>GTA		deltex 4 homolog							12.0	15.0	14.0					11																	58940200		2157	4268	6425	SO:0001819	synonymous_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58940200G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.132G>A	11.37:g.58940200G>A						DTX4_uc001nnr.2_Intron	p.V44V	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			1	389	+		all_epithelial(135;0.125)	44			WWE 1.		Q0VF38	Silent	SNP	ENST00000227451.3	37	c.132G>A	CCDS44612.1																																																																																				0.706	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1		XM_166213		5	1	0	0	0	0.000602	0	5	1		
MS4A2	2206	broad.mit.edu	37	11	59856269	59856269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:59856269C>T	ENST00000278888.3	+	1	133	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	11					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.L11V(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAGAGCAAATCTTGCTCTCCC	0.413																																						uc001nop.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(31-33)CTT>TTT		membrane-spanning 4-domains, subfamily A, member	Omalizumab(DB00043)						65.0	67.0	66.0					11																	59856269		2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59856269C>T	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.31C>T	11.37:g.59856269C>T	ENSP00000278888:p.Leu11Phe					MS4A2_uc009ymu.2_Missense_Mutation_p.L11F	p.L11F	NM_000139	NP_000130	Q01362	FCERB_HUMAN			1	133	+		all_epithelial(135;0.245)	11			Cytoplasmic (Potential).		Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.31C>T	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	C	4.334	0.061464	0.08339	.	.	ENSG00000149534	ENST00000524868;ENST00000278888	D;T	0.86865	-2.18;1.73	4.48	2.55	0.30701	.	0.956234	0.08697	N	0.907069	T	0.78984	0.4370	L	0.32530	0.975	0.09310	N	1	B	0.30033	0.266	B	0.29524	0.103	T	0.65676	-0.6110	10	0.33940	T	0.23	-26.5773	5.6467	0.17594	0.191:0.7094:0.0:0.0996	.	11	Q01362	FCERB_HUMAN	F	11	ENSP00000433311:L11F;ENSP00000278888:L11F	ENSP00000278888:L11F	L	+	1	0	MS4A2	59612845	0.006000	0.16342	0.023000	0.16930	0.003000	0.03518	0.180000	0.16860	0.777000	0.33496	0.650000	0.86243	CTT		0.413	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1				11	21	0	0	0	0.010729	0	11	21		
MS4A14	84689	broad.mit.edu	37	11	60164085	60164085	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:60164085C>T	ENST00000300187.6	+	1	311	c.34C>T	c.(34-36)Cac>Tac	p.H12Y	MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Missense_Mutation_p.H12Y|MS4A14_ENST00000395005.2_Missense_Mutation_p.H12Y|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	12						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAGGGCAACTCACGTCATCAC	0.453																																						uc001npj.2		NaN																	0				breast(1)	1						c.(34-36)CAC>TAC		membrane-spanning 4-domains, subfamily A, member							124.0	98.0	107.0					11																	60164085		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60164085C>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.34C>T	11.37:g.60164085C>T	ENSP00000300187:p.His12Tyr					MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.H12Y|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	p.H12Y	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			1	599	+			12					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.34C>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457279	0.43634	.	.	ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	T;T;T;T	0.32988	2.66;1.43;1.44;3.04	4.11	-0.17	0.13335	.	1.867500	0.02218	N	0.063758	T	0.34571	0.0902	L	0.29908	0.895	0.09310	N	0.999999	D;D	0.64830	0.994;0.989	P;P	0.56960	0.81;0.651	T	0.12268	-1.0554	10	0.49607	T	0.09	-2.1011	3.0196	0.06071	0.1719:0.395:0.3343:0.0988	.	12;12	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Y	12	ENSP00000300187:H12Y;ENSP00000378453:H12Y;ENSP00000435764:H12Y;ENSP00000433761:H12Y	ENSP00000300187:H12Y	H	+	1	0	MS4A14	59920661	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.484000	0.22308	-0.109000	0.12044	0.655000	0.94253	CAC		0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2				12	27	0	0	0	0.013537	0	12	27		
CD6	923	broad.mit.edu	37	11	60781007	60781007	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:60781007C>T	ENST00000313421.7	+	7	1449	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	CD6_ENST00000344028.5_Silent_p.F421F|CD6_ENST00000346437.4_Silent_p.F421F|CD6_ENST00000352009.5_Silent_p.F421F|CD6_ENST00000452451.2_Silent_p.F421F|CD6_ENST00000545105.1_3'UTR	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	421					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCATAGCCTTCATCCTCTTGA	0.507																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2		NaN																	0				pancreas(1)	1						c.(1261-1263)TTC>TTT		CD6 molecule precursor							180.0	186.0	184.0					11																	60781007		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60781007C>T		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1263C>T	11.37:g.60781007C>T						CD6_uc009yni.2_Silent_p.F320F|CD6_uc009ynj.2_Silent_p.F298F|CD6_uc001nqp.2_Silent_p.F421F|CD6_uc001nqr.2_Silent_p.F421F|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.F421F	p.F421F	NM_006725	NP_006716	P30203	CD6_HUMAN			7	1486	+			421			Helical; (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.1263C>T	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	0.178	-1.064985	0.01934	.	.	ENSG00000013725	ENST00000538611	.	.	.	5.45	2.39	0.29439	.	.	.	.	.	T	0.24890	0.0604	.	.	.	0.20307	N	0.999918	.	.	.	.	.	.	T	0.19614	-1.0300	4	.	.	.	.	3.9148	0.09219	0.1891:0.6126:0.0:0.1983	.	.	.	.	L	164	.	.	S	+	2	0	CD6	60537583	0.000000	0.05858	0.138000	0.22173	0.080000	0.17528	0.269000	0.18589	0.657000	0.30906	-0.136000	0.14681	TCA		0.507	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1		NM_006725		60	176	0	0	0	0.01441	0	60	176		
DDB1	1642	broad.mit.edu	37	11	61067688	61067688	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:61067688C>T	ENST00000301764.7	-	27	3740	c.3343G>A	c.(3343-3345)Gac>Aac	p.D1115N	DDB1_ENST00000538470.1_Missense_Mutation_p.D162N|DDB1_ENST00000450997.2_Missense_Mutation_p.D426N|DDB1_ENST00000451943.2_Missense_Mutation_p.D102N	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1115	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGCCATCGTCATACTGCAAT	0.592								Nucleotide excision repair (NER)																														uc001nrc.3		NaN																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(3343-3345)GAC>AAC	NER	damage-specific DNA binding protein 1							96.0	68.0	77.0					11																	61067688		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61067688C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3343G>A	11.37:g.61067688C>T	ENSP00000301764:p.Asp1115Asn						p.D1115N	NM_001923	NP_001914	Q16531	DDB1_HUMAN			27	3569	-			1115			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.3343G>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008602	0.75046	.	.	ENSG00000167986	ENST00000301764;ENST00000451943;ENST00000450997;ENST00000538470	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.56769	1.78	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.74515	-0.3640	10	0.16420	T	0.52	-24.663	17.7153	0.88335	0.0:1.0:0.0:0.0	.	1115	Q16531	DDB1_HUMAN	N	1115;102;426;162	ENSP00000301764:D1115N;ENSP00000399813:D102N;ENSP00000388705:D426N;ENSP00000441522:D162N	ENSP00000301764:D1115N	D	-	1	0	DDB1	60824264	1.000000	0.71417	0.971000	0.41717	0.967000	0.64934	6.961000	0.76042	2.624000	0.88883	0.555000	0.69702	GAC		0.592	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1		NM_001923		5	13	0	0	0	0.001168	0	5	13		
AHNAK	79026	broad.mit.edu	37	11	62297473	62297473	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62297473T>C	ENST00000378024.4	-	5	4690	c.4416A>G	c.(4414-4416)acA>acG	p.T1472T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1472					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTTGGAACTGTTACATCAT	0.398																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(4414-4416)ACA>ACG		AHNAK nucleoprotein isoform 1							166.0	170.0	169.0					11																	62297473		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297473T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4416A>G	11.37:g.62297473T>C						AHNAK_uc001ntk.1_Intron	p.T1472T	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	4716	-		Melanoma(852;0.155)	1472					A1A586	Silent	SNP	ENST00000378024.4	37	c.4416A>G	CCDS31584.1																																																																																				0.398	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		186	191	0	0	0	0.01441	0	186	191		
EML3	256364	broad.mit.edu	37	11	62372641	62372641	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62372641G>C	ENST00000394773.2	-	16	2233	c.1926C>G	c.(1924-1926)ctC>ctG	p.L642L	EML3_ENST00000278845.4_Silent_p.L643L|EML3_ENST00000529309.1_Silent_p.L642L|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000494176.2_Silent_p.L614L|EML3_ENST00000531557.1_Silent_p.L425L|RP11-831H9.3_ENST00000532626.1_RNA	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	642						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGTCAGCACAGAGACCAGTCT	0.562																																						uc001ntu.1		NaN																	0				ovary(1)	1						c.(1924-1926)CTC>CTG		echinoderm microtubule associated protein like							95.0	91.0	92.0					11																	62372641		2202	4299	6501	SO:0001819	synonymous_variant	256364					cytoplasm|microtubule	protein binding	g.chr11:62372641G>C	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1926C>G	11.37:g.62372641G>C						EML3_uc001ntr.1_Silent_p.L614L|EML3_uc001nts.1_Silent_p.L614L|EML3_uc001ntt.1_Silent_p.L526L|EML3_uc010rly.1_Silent_p.L642L	p.L642L	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN			16	2234	-			642					Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	c.1926C>G	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	G	8.917	0.960087	0.18507	.	.	ENSG00000149499	ENST00000394776	T	0.29917	1.55	5.47	3.43	0.39272	.	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05241	-1.0897	7	0.33141	T	0.24	-7.6032	8.0943	0.30818	0.0:0.2873:0.5435:0.1692	.	.	.	.	V	637	ENSP00000378256:L637V	ENSP00000378256:L637V	L	-	1	2	EML3	62129217	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.278000	0.18753	1.241000	0.43820	0.561000	0.74099	CTG		0.562	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1		NM_153265		16	57	0	0	0	0.004007	0	16	57		
GANAB	23193	broad.mit.edu	37	11	62400737	62400737	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62400737C>T	ENST00000356638.3	-	7	653	c.637G>A	c.(637-639)Gag>Aag	p.E213K	GANAB_ENST00000346178.4_Missense_Mutation_p.E235K|GANAB_ENST00000534779.1_Missense_Mutation_p.E121K|GANAB_ENST00000540933.1_Missense_Mutation_p.E116K|GANAB_ENST00000534422.1_5'UTR	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	213					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CCCTGAGTCTCCTCTGGCTGT	0.522																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(637-639)GAG>AAG		neutral alpha-glucosidase AB isoform 2							104.0	109.0	108.0					11																	62400737		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400737C>T	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.637G>A	11.37:g.62400737C>T	ENSP00000349053:p.Glu213Lys					GANAB_uc001nua.2_Missense_Mutation_p.E235K|GANAB_uc001nuc.2_Missense_Mutation_p.E116K|GANAB_uc010rma.1_Missense_Mutation_p.E121K|GANAB_uc010rmb.1_Missense_Mutation_p.E99K	p.E213K	NM_198334	NP_938148	Q14697	GANAB_HUMAN			7	670	-			213					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.637G>A	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328154	0.41197	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88664	-2.33;-2.28;-2.41;-2.33	5.27	4.34	0.51931	Glycoside hydrolase-type carbohydrate-binding (1);	1.461070	0.03929	N	0.284984	D	0.83170	0.5196	N	0.22421	0.69	0.45046	D	0.998069	B;B;B;B	0.14012	0.003;0.001;0.009;0.007	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.63088	-0.6715	10	0.31617	T	0.26	-22.6291	10.0447	0.42180	0.0:0.9066:0.0:0.0934	.	99;121;213;235	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	K	235;213;121;116	ENSP00000340466:E235K;ENSP00000349053:E213K;ENSP00000435306:E121K;ENSP00000442962:E116K	ENSP00000340466:E235K	E	-	1	0	GANAB	62157313	0.983000	0.35010	1.000000	0.80357	0.981000	0.71138	1.823000	0.39062	2.736000	0.93811	0.563000	0.77884	GAG		0.522	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1		NM_198334		7	157	0	0	0	0.001984	0	7	157		
GANAB	23193	broad.mit.edu	37	11	62406471	62406471	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62406471C>T	ENST00000356638.3	-	4	380	c.364G>A	c.(364-366)Gat>Aat	p.D122N	GANAB_ENST00000346178.4_Missense_Mutation_p.D122N|GANAB_ENST00000534779.1_Intron|GANAB_ENST00000540933.1_Missense_Mutation_p.D25N|GANAB_ENST00000534422.1_5'UTR	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	122					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	ATTGGTGGATCAGCCACCAAA	0.483																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(364-366)GAT>AAT		neutral alpha-glucosidase AB isoform 2							51.0	51.0	51.0					11																	62406471		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62406471C>T	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.364G>A	11.37:g.62406471C>T	ENSP00000349053:p.Asp122Asn					GANAB_uc001nua.2_Missense_Mutation_p.D122N|GANAB_uc001nuc.2_Missense_Mutation_p.D25N|GANAB_uc010rma.1_Intron|GANAB_uc010rmb.1_Intron	p.D122N	NM_198334	NP_938148	Q14697	GANAB_HUMAN			4	397	-			122					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.364G>A	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164034	0.38217	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000540933	D;D;D	0.85411	-1.98;-1.98;-1.98	4.65	4.65	0.58169	Glycoside hydrolase-type carbohydrate-binding (1);	0.308092	0.35585	N	0.003107	T	0.78059	0.4224	L	0.43152	1.355	0.35331	D	0.785655	B;B	0.12013	0.002;0.005	B;B	0.17098	0.017;0.009	T	0.76735	-0.2850	10	0.34782	T	0.22	-12.4816	8.6084	0.33786	0.0:0.8979:0.0:0.1021	.	122;122	Q14697;Q14697-2	GANAB_HUMAN;.	N	122;122;25	ENSP00000340466:D122N;ENSP00000349053:D122N;ENSP00000442962:D25N	ENSP00000340466:D122N	D	-	1	0	GANAB	62163047	0.999000	0.42202	1.000000	0.80357	0.551000	0.35334	3.783000	0.55409	2.437000	0.82529	0.455000	0.32223	GAT		0.483	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1		NM_198334		20	28	0	0	0	0.007413	0	20	28		
TTC9C	283237	broad.mit.edu	37	11	62505817	62505817	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62505817G>C	ENST00000316461.4	+	3	789	c.479G>C	c.(478-480)aGa>aCa	p.R160T	TTC9C_ENST00000532583.1_Missense_Mutation_p.R160T	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	160										breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						AGCTACCATAGAAAAGAGAAG	0.458																																						uc001nuy.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(478-480)AGA>ACA		tetratricopeptide repeat domain 9C							72.0	65.0	67.0					11																	62505817		2202	4299	6501	SO:0001583	missense	283237						binding	g.chr11:62505817G>C	BC032123	CCDS8033.1	11q12.3	2013-01-10			ENSG00000162222	ENSG00000162222		"""Tetratricopeptide (TTC) repeat domain containing"""	28432	protein-coding gene	gene with protein product							Standard	NM_173810		Approved	MGC29649	uc001nuy.3	Q8N5M4	OTTHUMG00000167607	ENST00000316461.4:c.479G>C	11.37:g.62505817G>C	ENSP00000325266:p.Arg160Thr					TTC9C_uc001nux.2_Missense_Mutation_p.R293T	p.R160T	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN			3	848	+			160					Q8WYY7	Missense_Mutation	SNP	ENST00000316461.4	37	c.479G>C	CCDS8033.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860918	0.51482	.	.	ENSG00000162222	ENST00000316461;ENST00000532583;ENST00000532276	T;T;T	0.74002	2.25;2.25;-0.8	6.07	-2.22	0.06952	.	.	.	.	.	T	0.56232	0.1971	L	0.28192	0.835	0.09310	N	0.999998	B	0.16166	0.016	B	0.11329	0.006	T	0.41270	-0.9518	9	0.37606	T	0.19	.	6.7742	0.23611	0.6365:0.1393:0.2242:0.0	.	160	Q8N5M4	TTC9C_HUMAN	T	160;160;58	ENSP00000325266:R160T;ENSP00000434340:R160T;ENSP00000434137:R58T	ENSP00000325266:R160T	R	+	2	0	TTC9C	62262393	1.000000	0.71417	0.303000	0.25071	0.953000	0.61014	1.349000	0.33998	-0.243000	0.09653	0.655000	0.94253	AGA		0.458	TTC9C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395338.1		NM_173810		3	18	0	0	0	0.004672	0	3	18		
ZBTB3	79842	broad.mit.edu	37	11	62519909	62519909	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62519909C>A	ENST00000394807.3	-	2	1503	c.1378G>T	c.(1378-1380)Gct>Tct	p.A460S		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CTTCCTGGAGCTGCTTCGTAC	0.552																																						uc001nuz.2		NaN																	0				breast(2)|ovary(1)	3						c.(1378-1380)GCT>TCT		zinc finger and BTB domain containing 3							64.0	61.0	62.0					11																	62519909		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62519909C>A	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1378G>T	11.37:g.62519909C>A	ENSP00000378286:p.Ala460Ser						p.A460S	NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN			2	1500	-			460						Missense_Mutation	SNP	ENST00000394807.3	37	c.1378G>T	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	C	5.413	0.261458	0.10239	.	.	ENSG00000185670	ENST00000394807	T	0.12879	2.64	4.72	2.78	0.32641	.	0.475985	0.23567	N	0.046793	T	0.06917	0.0176	N	0.24115	0.695	0.22142	N	0.999333	B	0.16603	0.018	B	0.21360	0.034	T	0.41945	-0.9480	10	0.08837	T	0.75	.	4.5478	0.12090	0.0:0.606:0.1814:0.2126	.	460	Q9H5J0	ZBTB3_HUMAN	S	460	ENSP00000378286:A460S	ENSP00000378286:A460S	A	-	1	0	ZBTB3	62276485	0.000000	0.05858	0.994000	0.49952	0.879000	0.50718	-0.292000	0.08332	0.385000	0.24970	0.561000	0.74099	GCT		0.552	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1		NM_024784		34	60	1	0	7.11191e-15	0.013726	7.46269e-15	34	60		
NXF1	10482	broad.mit.edu	37	11	62563940	62563940	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62563940G>C	ENST00000532297.1	-	15	1907	c.1278C>G	c.(1276-1278)aaC>aaG	p.N426K	NXF1_ENST00000294172.2_Missense_Mutation_p.N426K|NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	426	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCGGGCAGGGTTCTGAGGAA	0.562																																						uc001nvf.1		NaN																	0				skin(3)	3						c.(1276-1278)AAC>AAG		nuclear RNA export factor 1 isoform 1							128.0	123.0	125.0					11																	62563940		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62563940G>C	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1278C>G	11.37:g.62563940G>C	ENSP00000436679:p.Asn426Lys					NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.N469K	p.N426K	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			14	1414	-			426			NTF2.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.1278C>G	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702091	0.48307	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.61742	0.08;0.08;0.08	5.13	-0.0826	0.13697	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	L	0.58925	1.835	0.80722	D	1	P;D	0.58970	0.599;0.984	B;P	0.58013	0.444;0.831	T	0.61227	-0.7105	10	0.06365	T	0.9	-33.2388	9.2217	0.37382	0.3865:0.0:0.6135:0.0	.	469;426	E9PIN3;Q9UBU9	.;NXF1_HUMAN	K	426;426;469	ENSP00000294172:N426K;ENSP00000436679:N426K;ENSP00000435742:N469K	ENSP00000294172:N426K	N	-	3	2	NXF1	62320516	1.000000	0.71417	0.996000	0.52242	0.237000	0.25408	2.818000	0.48041	-0.156000	0.11079	-0.378000	0.06908	AAC		0.562	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2		NM_006362		10	111	0	0	0	0.008291	0	10	111		
SLC22A8	9376	broad.mit.edu	37	11	62767306	62767306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62767306C>T	ENST00000336232.2	-	4	581	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SLC22A8_ENST00000535878.1_Missense_Mutation_p.R26H|SLC22A8_ENST00000430500.2_Missense_Mutation_p.R149H|SLC22A8_ENST00000545207.1_Missense_Mutation_p.R58H|SLC22A8_ENST00000311438.8_Missense_Mutation_p.R149H|SLC22A8_ENST00000542795.1_5'UTR	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	149			R -> S (complete loss of function; dbSNP:rs45566039). {ECO:0000269|PubMed:16291576}.		glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GATGGGCCTGCGGCCAAACCT	0.627																																						uc001nwo.2		NaN																	0				skin(2)|ovary(1)	3						c.(445-447)CGC>CAC		solute carrier family 22 member 8							33.0	33.0	33.0					11																	62767306		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62767306C>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.446G>A	11.37:g.62767306C>T	ENSP00000337335:p.Arg149His					SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc001nwp.2_Missense_Mutation_p.R149H|SLC22A8_uc009yom.2_Missense_Mutation_p.R26H|SLC22A8_uc010rmm.1_Missense_Mutation_p.R58H|SLC22A8_uc009yon.2_Missense_Mutation_p.R149H	p.R149H	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			4	582	-			149			Cytoplasmic (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.446G>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364418	0.82463	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.056144	0.64402	D	0.000001	D	0.94644	0.8273	H	0.97051	3.93	0.45867	D	0.998725	D;D	0.71674	0.998;0.998	D;D	0.68483	0.93;0.958	D	0.96056	0.9035	10	0.87932	D	0	.	14.4746	0.67537	0.0:1.0:0.0:0.0	.	149;149	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	H	149;135;58;26;149;149	ENSP00000337335:R149H;ENSP00000441658:R58H;ENSP00000443368:R26H;ENSP00000311463:R149H;ENSP00000398548:R149H	ENSP00000311463:R149H	R	-	2	0	SLC22A8	62523882	0.999000	0.42202	1.000000	0.80357	0.692000	0.40212	5.231000	0.65327	2.486000	0.83907	0.511000	0.50034	CGC		0.627	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1		NM_004254		4	22	0	0	0	0.000602	0	4	22		
MARK2	2011	broad.mit.edu	37	11	63668428	63668428	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:63668428G>A	ENST00000509502.2	+	11	1352		c.e11-1		MARK2_ENST00000377810.3_Splice_Site|MARK2_ENST00000402010.2_Splice_Site|MARK2_ENST00000361128.5_Splice_Site|MARK2_ENST00000350490.7_Splice_Site|MARK2_ENST00000502399.3_Splice_Site|MARK2_ENST00000413835.2_Splice_Site|MARK2_ENST00000508192.1_Splice_Site|MARK2_ENST00000315032.8_Splice_Site|MARK2_ENST00000408948.3_Splice_Site|MARK2_ENST00000425897.2_Splice_Site|MARK2_ENST00000377809.4_Splice_Site|MARK2_ENST00000513765.2_Splice_Site	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCCCTGTGCAGAGCTGATGGT	0.577																																						uc001nxw.2		NaN																	0				stomach(1)|ovary(1)|lung(1)	3						c.e11-1		MAP/microtubule affinity-regulating kinase 2							119.0	103.0	108.0					11																	63668428		2201	4297	6498	SO:0001630	splice_region_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63668428G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.890-1G>A	11.37:g.63668428G>A						MARK2_uc001nxx.2_Splice_Site_p.E330_splice|MARK2_uc001nxy.2_Splice_Site_p.E330_splice|MARK2_uc001nxv.3_Splice_Site_p.E330_splice|MARK2_uc001nxz.3_Splice_Site_p.E297_splice|MARK2_uc009yoy.2_Splice_Site_p.E297_splice	p.E330_splice	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			11	1568	+									Splice_Site	SNP	ENST00000509502.2	37	c.989_splice	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584055	0.65992	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6438	0.85155	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MARK2	63425004	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	9.622000	0.98378	2.453000	0.82957	0.557000	0.71058	.		0.577	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2		NM_017490	Intron	49	57	0	0	0	0.01441	0	49	57		
GPR137	56834	broad.mit.edu	37	11	64054074	64054074	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64054074G>A	ENST00000313074.3	+	1	183	c.78G>A	c.(76-78)ctG>ctA	p.L26L	BAD_ENST00000394532.3_5'Flank|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000438980.2_Silent_p.L26L|GPR137_ENST00000411458.1_Silent_p.L84L|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000539851.1_Silent_p.L26L|BAD_ENST00000544785.1_5'Flank|GPR137_ENST00000377702.4_Silent_p.L26L	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	26						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCCTGGGGCTGACAGCTGCCT	0.617																																						uc001nzg.1		NaN																	0				central_nervous_system(1)	1						c.(76-78)CTG>CTA		G protein-coupled receptor 137							107.0	96.0	99.0					11																	64054074		2201	4297	6498	SO:0001819	synonymous_variant	56834					integral to membrane		g.chr11:64054074G>A	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.78G>A	11.37:g.64054074G>A						BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Silent_p.L32L|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Silent_p.L84L|GPR137_uc001nze.1_Silent_p.L26L|GPR137_uc001nzf.2_Silent_p.L26L|GPR137_uc001nzh.1_Silent_p.L26L|GPR137_uc001nzi.2_Silent_p.L26L|GPR137_uc010rnj.1_Silent_p.L26L	p.L26L	NM_020155	NP_064540	Q96N19	G137A_HUMAN			2	386	+			26			Extracellular (Potential).		B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	ENST00000313074.3	37	c.78G>A	CCDS8066.1																																																																																				0.617	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1		NM_020155		29	87	0	0	0	0.009535	0	29	87		
KCNK4	50801	broad.mit.edu	37	11	64067112	64067112	+	Silent	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64067112A>C	ENST00000539216.1	+	6	1456	c.1096A>C	c.(1096-1098)Aga>Cga	p.R366R	KCNK4_ENST00000422670.2_Silent_p.R366R|KCNK4_ENST00000538767.1_Missense_Mutation_p.E250A|TEX40_ENST00000328404.6_5'Flank|KCNK4_ENST00000394525.2_Silent_p.R366R|TEX40_ENST00000539943.1_5'Flank|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	366					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CCGCGCGCCGAGAGGTCGCCG	0.731																																						uc001nzj.1		NaN																	0					0						c.(1096-1098)AGA>CGA		TRAAK							13.0	18.0	16.0					11																	64067112		2138	4156	6294	SO:0001819	synonymous_variant	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64067112A>C	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.1096A>C	11.37:g.64067112A>C						KCNK4_uc001nzk.1_Missense_Mutation_p.E250A|KCNK4_uc010rnk.1_Silent_p.R194R|KCNK4_uc001nzl.1_Missense_Mutation_p.E250A|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Silent_p.R366R|KCNK4_uc001nzo.2_Silent_p.R366R|KCNK4_uc001nzp.1_Silent_p.R252R|C11orf20_uc009ypm.2_5'Flank	p.R366R	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN			7	1419	+			366			Cytoplasmic (Potential).		B5TJL1|Q96T94	Silent	SNP	ENST00000539216.1	37	c.1096A>C	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	A	5.930	0.355646	0.11239	.	.	ENSG00000182450	ENST00000538767	.	.	.	4.51	2.58	0.30949	.	.	.	.	.	T	0.37865	0.1019	.	.	.	0.19300	N	0.999973	B	0.02656	0.0	B	0.01281	0.0	T	0.34304	-0.9834	7	0.87932	D	0	.	9.9023	0.41355	0.3719:0.6281:0.0:0.0	.	250	F5GYE0	.	A	250	.	ENSP00000446454:E250A	E	+	2	0	KCNK4	63823688	0.082000	0.21442	0.045000	0.18777	0.155000	0.21991	0.156000	0.16382	0.438000	0.26450	-0.233000	0.12211	GAG		0.731	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1		NM_033311		4	19	0	0	0	0.000602	0	4	19		
TRMT112	51504	broad.mit.edu	37	11	64084577	64084577	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64084577C>T	ENST00000544844.1	-	3	780	c.223G>A	c.(223-225)Gag>Aag	p.E75K	TRMT112_ENST00000308774.2_Missense_Mutation_p.E70K|TRMT112_ENST00000539854.1_Missense_Mutation_p.E75K|PRDX5_ENST00000265462.4_5'Flank|TRMT112_ENST00000535750.1_Missense_Mutation_p.E31K|TRMT112_ENST00000535126.1_3'UTR|PRDX5_ENST00000347941.4_5'Flank|PRDX5_ENST00000352435.4_5'Flank			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	75	TRM112.				peptidyl-glutamine methylation (GO:0018364)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protein methyltransferase activity (GO:0008276)			large_intestine(1)|upper_aerodigestive_tract(1)	2						TCATTCTCCTCATATCCCTCA	0.617																																						uc001nzt.2		NaN																	0					0						c.(223-225)GAG>AAG		tRNA methyltransferase 11-2 homolog							70.0	65.0	67.0					11																	64084577		2201	4297	6498	SO:0001583	missense	51504				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity	g.chr11:64084577C>T	AF110774	CCDS8068.1, CCDS66113.1, CCDS73312.1	11q13.1	2013-07-23			ENSG00000173113	ENSG00000173113			26940	protein-coding gene	gene with protein product						11042152	Standard	NM_001286082		Approved	HSPC152, HSPC170, TRM112, TRMT11-2	uc001nzt.3	Q9UI30	OTTHUMG00000167848	ENST00000544844.1:c.223G>A	11.37:g.64084577C>T	ENSP00000438349:p.Glu75Lys					PRDX5_uc001nzu.2_5'Flank|PRDX5_uc001nzv.2_5'Flank|PRDX5_uc001nzw.2_5'Flank|PRDX5_uc001nzx.2_5'Flank	p.E75K	NM_016404	NP_057488	Q9UI30	TR112_HUMAN			3	258	-			75			TRM112.		B2R539|J3KNG5|Q3MHC7|Q8N2Z4	Missense_Mutation	SNP	ENST00000544844.1	37	c.223G>A	CCDS8068.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068411	0.55539	.	.	ENSG00000173113	ENST00000535750;ENST00000544844;ENST00000308774;ENST00000539854	.	.	.	4.16	4.16	0.48862	.	0.119654	0.53938	D	0.000053	T	0.55816	0.1944	L	0.54323	1.7	0.48236	D	0.999613	B	0.28258	0.205	B	0.29077	0.098	T	0.52555	-0.8560	9	0.18276	T	0.48	.	14.3813	0.66914	0.0:1.0:0.0:0.0	.	75	Q9UI30	TR112_HUMAN	K	31;75;70;75	.	ENSP00000309433:E70K	E	-	1	0	TRMT112	63841153	1.000000	0.71417	0.091000	0.20842	0.005000	0.04900	4.490000	0.60319	2.331000	0.79229	0.655000	0.94253	GAG		0.617	TRMT112-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396598.2		NM_016404		27	29	0	0	0	0.009535	0	27	29		
RPS6KA4	8986	broad.mit.edu	37	11	64138842	64138842	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64138842A>T	ENST00000334205.4	+	17	2274	c.2209A>T	c.(2209-2211)Agc>Tgc	p.S737C	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.S730C|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.S489C|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	737	Required for nuclear targeting and association with MAPK14.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GAAGCTGCGGAGCGCCACCGC	0.721																																						uc001oae.2		NaN																	0				lung(3)|ovary(1)|breast(1)	5						c.(2209-2211)AGC>TGC		ribosomal protein S6 kinase, 90kDa, polypeptide							20.0	24.0	23.0					11																	64138842		2129	4170	6299	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64138842A>T	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.2209A>T	11.37:g.64138842A>T	ENSP00000333896:p.Ser737Cys					RPS6KA4_uc001oad.2_Missense_Mutation_p.S731C|RPS6KA4_uc010rnl.1_Missense_Mutation_p.S674C|RPS6KA4_uc001oaf.2_Missense_Mutation_p.S730C|RPS6KA4_uc009ypp.2_Missense_Mutation_p.S489C	p.S737C	NM_003942	NP_003933	O75676	KS6A4_HUMAN			17	2292	+			737					A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.2209A>T	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	a	26.0	4.699271	0.88830	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261	T;T;T	0.70399	-0.41;-0.35;-0.48	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	M	0.73962	2.25	0.32618	N	0.523658	D;D;D;D	0.76494	0.999;0.975;0.994;0.994	D;P;P;P	0.79784	0.993;0.52;0.819;0.847	D	0.87098	0.2177	10	0.87932	D	0	.	12.1248	0.53910	1.0:0.0:0.0:0.0	.	489;730;737;731	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	C	730;737;489	ENSP00000435580:S730C;ENSP00000333896:S737C;ENSP00000294261:S489C	ENSP00000294261:S489C	S	+	1	0	RPS6KA4	63895418	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.155000	0.71833	1.745000	0.51790	0.402000	0.26972	AGC		0.721	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2		NM_003942		4	20	0	0	0	0.001168	0	4	20		
SF1	7536	broad.mit.edu	37	11	64536954	64536954	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64536954G>A	ENST00000377390.3	-	6	944	c.607C>T	c.(607-609)Ctt>Ttt	p.L203F	SF1_ENST00000377394.3_Missense_Mutation_p.L203F|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.L203F|SF1_ENST00000422298.2_Missense_Mutation_p.L88F|SF1_ENST00000433274.2_Missense_Mutation_p.L177F|SF1_ENST00000377387.1_Missense_Mutation_p.L328F|SF1_ENST00000227503.9_Missense_Mutation_p.L203F	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	203	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AGGGCATGAAGTGGCTCATCT	0.522																																						uc001obb.1		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(607-609)CTT>TTT		splicing factor 1 isoform 1							238.0	232.0	234.0					11																	64536954		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64536954G>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.607C>T	11.37:g.64536954G>A	ENSP00000366607:p.Leu203Phe					SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.L177F|SF1_uc001oaz.1_Missense_Mutation_p.L328F|SF1_uc001oba.1_Missense_Mutation_p.L203F|SF1_uc001obc.1_Missense_Mutation_p.L203F|SF1_uc001obd.1_Missense_Mutation_p.L203F|SF1_uc001obe.1_Missense_Mutation_p.L88F|SF1_uc010rno.1_Missense_Mutation_p.L88F	p.L203F	NM_004630	NP_004621	Q15637	SF01_HUMAN			6	984	-			203			KH.		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.607C>T	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177045	0.94846	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	6.04	6.04	0.98038	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	H	0.96518	3.835	0.80722	D	1	D;D;D;D;D;D	0.64830	0.987;0.992;0.984;0.987;0.984;0.994	D;P;P;D;P;D	0.64410	0.925;0.846;0.796;0.925;0.878;0.914	T	0.77175	-0.2684	10	0.59425	D	0.04	.	18.0887	0.89466	0.0:0.0:1.0:0.0	.	88;203;203;203;203;328	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	F	328;203;203;203;203;88;177	ENSP00000366604:L328F;ENSP00000366607:L203F;ENSP00000227503:L203F;ENSP00000366611:L203F;ENSP00000334414:L203F;ENSP00000413084:L88F;ENSP00000396793:L177F	ENSP00000227503:L203F	L	-	1	0	SF1	64293530	1.000000	0.71417	0.991000	0.47740	0.929000	0.56500	6.288000	0.72679	2.873000	0.98535	0.563000	0.77884	CTT		0.522	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1		NM_004630		141	243	0	0	0	0.01441	0	141	243		
MEN1	4221	broad.mit.edu	37	11	64571923	64571923	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64571923C>T	ENST00000337652.1	-	10	2234	c.1731G>A	c.(1729-1731)tcG>tcA	p.S577S	MEN1_ENST00000377313.1_Silent_p.S577S|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000443283.1_Silent_p.S577S|MEN1_ENST00000377326.3_Silent_p.S572S|MEN1_ENST00000394374.2_Silent_p.S577S|MEN1_ENST00000377321.1_Silent_p.S537S|MEN1_ENST00000377316.2_Silent_p.S517S|MEN1_ENST00000315422.4_Silent_p.S572S|MEN1_ENST00000312049.6_Silent_p.S572S|MEN1_ENST00000394376.1_Silent_p.S577S|MAP4K2_ENST00000468062.1_5'Flank|MAP4K2_ENST00000377350.3_5'Flank	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	577					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.S573_A574del(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TGATGGCGCTCGAGTTGATCT	0.562			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.2		NaN	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	D|Mis|N|F|S	multiple endocrine neoplasia type 1 gene			E		parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors		1	Deletion - In frame(1)	p.S573_A574del(1)	parathyroid(1)	parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						c.(1729-1731)TCG>TCA		menin isoform 1							220.0	194.0	203.0					11																	64571923		2201	4297	6498	SO:0001819	synonymous_variant	4221	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64571923C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1731G>A	11.37:g.64571923C>T						MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Silent_p.S577S|MEN1_uc001obl.2_Silent_p.S537S|MEN1_uc001obm.2_Silent_p.S572S|MEN1_uc001obn.2_Silent_p.S577S|MEN1_uc001obo.2_Silent_p.S577S|MEN1_uc001obp.2_Silent_p.S572S|MEN1_uc001obq.2_Silent_p.S577S|MEN1_uc001obr.2_Silent_p.S577S	p.S577S	NM_130800	NP_570712	O00255	MEN1_HUMAN			10	1804	-			577					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.1731G>A	CCDS8083.1																																																																																				0.562	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1				148	159	0	0	0	0.01441	0	148	159		
MEN1	4221	broad.mit.edu	37	11	64577195	64577195	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64577195G>A	ENST00000337652.1	-	2	890	c.387C>T	c.(385-387)ctC>ctT	p.L129L	MEN1_ENST00000377313.1_Silent_p.L129L|MEN1_ENST00000443283.1_Silent_p.L129L|MEN1_ENST00000377326.3_Silent_p.L129L|MEN1_ENST00000394374.2_Silent_p.L129L|MEN1_ENST00000377321.1_Silent_p.L129L|MEN1_ENST00000377316.2_Silent_p.L129L|MEN1_ENST00000315422.4_Silent_p.L129L|MEN1_ENST00000312049.6_Silent_p.L129L|MEN1_ENST00000394376.1_Silent_p.L129L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	129					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.I125fs*53(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGGAGCGGCTGAGGCTGTTCC	0.572			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.2		NaN	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	D|Mis|N|F|S	multiple endocrine neoplasia type 1 gene			E		parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors		1	Deletion - Frameshift(1)	p.I125fs*53(1)	parathyroid(1)	parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						c.(385-387)CTC>CTT		menin isoform 1							115.0	116.0	116.0					11																	64577195		2201	4297	6498	SO:0001819	synonymous_variant	4221	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64577195G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.387C>T	11.37:g.64577195G>A						MEN1_uc001obk.2_Silent_p.L129L|MEN1_uc001obl.2_Silent_p.L129L|MEN1_uc001obm.2_Silent_p.L129L|MEN1_uc001obn.2_Silent_p.L129L|MEN1_uc001obo.2_Silent_p.L129L|MEN1_uc001obp.2_Silent_p.L129L|MEN1_uc001obq.2_Silent_p.L129L|MEN1_uc001obr.2_Silent_p.L129L	p.L129L	NM_130800	NP_570712	O00255	MEN1_HUMAN			2	460	-			129					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.387C>T	CCDS8083.1																																																																																				0.572	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1				62	119	0	0	0	0.01441	0	62	119		
SLC25A45	283130	broad.mit.edu	37	11	65147003	65147003	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65147003G>A	ENST00000527174.1	-	4	238	c.183C>T	c.(181-183)ttC>ttT	p.F61F	SLC25A45_ENST00000377152.2_Intron|SLC25A45_ENST00000534028.1_Silent_p.F37F|SLC25A45_ENST00000398802.1_Silent_p.F61F|SLC25A45_ENST00000360662.3_Silent_p.F37F|SLC25A45_ENST00000417511.2_Silent_p.F19F|SLC25A45_ENST00000294187.6_Silent_p.F19F|SLC25A45_ENST00000526432.1_Intron			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	61					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGGCAATGGGGAAGCTCATTC	0.622																																						uc001odp.1		NaN																	0					0						c.(181-183)TTC>TTT		solute carrier family 25, member 45 isoform b							74.0	85.0	81.0					11																	65147003		2096	4210	6306	SO:0001819	synonymous_variant	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65147003G>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.183C>T	11.37:g.65147003G>A						SLC25A45_uc009yqi.1_Intron|SLC25A45_uc001odq.1_Silent_p.F37F|SLC25A45_uc001odr.1_Silent_p.F61F|SLC25A45_uc001ods.1_Silent_p.F19F|SLC25A45_uc001odt.1_Silent_p.F19F	p.F61F	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN			4	605	-			61			Solcar 1.		Q6PL49|Q8IW29	Silent	SNP	ENST00000527174.1	37	c.183C>T	CCDS41670.1																																																																																				0.622	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3		NM_182556		17	41	0	0	0	0.004007	0	17	41		
FRMD8	83786	broad.mit.edu	37	11	65161130	65161130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65161130G>A	ENST00000317568.5	+	4	503	c.340G>A	c.(340-342)Gat>Aat	p.D114N	FRMD8_ENST00000355991.5_Missense_Mutation_p.D58N|FRMD8_ENST00000416776.2_Intron	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	114	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TGCCCCAGACGATGACGTGGC	0.652																																						uc001odu.3		NaN																	0				lung(1)|pancreas(1)	2						c.(340-342)GAT>AAT		FERM domain containing 8							73.0	54.0	61.0					11																	65161130		2201	4296	6497	SO:0001583	missense	83786					cytoskeleton	binding	g.chr11:65161130G>A	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.340G>A	11.37:g.65161130G>A	ENSP00000319726:p.Asp114Asn					FRMD8_uc009yqj.2_Missense_Mutation_p.D58N|FRMD8_uc010rof.1_Intron	p.D114N	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN			4	532	+			114			FERM.		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	c.340G>A	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	G	8.270	0.813233	0.16537	.	.	ENSG00000126391	ENST00000317568;ENST00000533782;ENST00000355991	D;T;T	0.83250	-1.7;-1.07;-1.11	4.84	4.84	0.62591	Band 4.1 domain (1);FERM domain (1);	0.174741	0.49916	D	0.000133	T	0.71221	0.3314	L	0.32530	0.975	0.80722	D	1	B;B	0.19200	0.002;0.034	B;B	0.12837	0.006;0.008	T	0.63941	-0.6523	10	0.15499	T	0.54	-14.2268	9.4454	0.38695	0.0983:0.0:0.9017:0.0	.	58;114	Q9BZ67-2;Q9BZ67	.;FRMD8_HUMAN	N	114;58;58	ENSP00000319726:D114N;ENSP00000435913:D58N;ENSP00000348270:D58N	ENSP00000319726:D114N	D	+	1	0	FRMD8	64917706	1.000000	0.71417	0.138000	0.22173	0.178000	0.23041	6.808000	0.75206	2.410000	0.81850	0.462000	0.41574	GAT		0.652	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1		NM_031904		5	13	0	0	0	0.000602	0	5	13		
PCNXL3	399909	broad.mit.edu	37	11	65401671	65401671	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65401671G>A	ENST00000355703.3	+	28	5084	c.4545G>A	c.(4543-4545)ctG>ctA	p.L1515L	PCNXL3_ENST00000531280.1_3'UTR|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1515						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGGCAGCCCTGAGGCCTGTGC	0.642																																						uc001oey.2		NaN																	0					0						c.(4543-4545)CTG>CTA		pecanex-like 3							30.0	36.0	34.0					11																	65401671		2097	4203	6300	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65401671G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4545G>A	11.37:g.65401671G>A						PCNXL3_uc001oez.2_Silent_p.L402L	p.L1515L	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			28	4545	+			1515					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.4545G>A	CCDS44650.1																																																																																				0.642	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1		NM_032223		5	20	0	0	0	0.001168	0	5	20		
GAL3ST3	89792	broad.mit.edu	37	11	65812872	65812872	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65812872G>A	ENST00000312006.4	-	2	296	c.15C>T	c.(13-15)ctC>ctT	p.L5L	GAL3ST3_ENST00000527878.1_Silent_p.L5L	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	5					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GCAGGCGCTGGAGGATGGGTG	0.647											OREG0021093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ogv.2		NaN																	0				ovary(1)	1						c.(13-15)CTC>CTT		galactose-3-O-sulfotransferase 3							35.0	32.0	33.0					11																	65812872		2201	4296	6497	SO:0001819	synonymous_variant	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65812872G>A	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.15C>T	11.37:g.65812872G>A			OREG0021093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1087	GAL3ST3_uc001ogw.2_Silent_p.L5L	p.L5L	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN			1	175	-			5			Cytoplasmic (Potential).		Q14D05	Silent	SNP	ENST00000312006.4	37	c.15C>T	CCDS8128.1																																																																																				0.647	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1		NM_033036		4	36	0	0	0	0.000602	0	4	36		
RIN1	9610	broad.mit.edu	37	11	66099752	66099752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66099752C>G	ENST00000311320.4	-	10	2473	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	RIN1_ENST00000424433.2_Missense_Mutation_p.R583S|RIN1_ENST00000530056.1_Missense_Mutation_p.E617Q|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	783					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCAAGCTACTCCTCTGCTGCC	0.632																																						uc001ohn.1		NaN																	0				lung(2)|breast(1)	3						c.(2347-2349)GAG>CAG		ras inhibitor RIN1							82.0	90.0	87.0					11																	66099752		2200	4295	6495	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66099752C>G	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.2347G>C	11.37:g.66099752C>G	ENSP00000310406:p.Glu783Gln					RIN1_uc010roy.1_Missense_Mutation_p.E414Q|RIN1_uc009yrd.1_Missense_Mutation_p.E476Q|RIN1_uc010roz.1_Missense_Mutation_p.E678Q|RIN1_uc010rpa.1_Missense_Mutation_p.E617Q	p.E783Q	NM_004292	NP_004283	Q13671	RIN1_HUMAN			10	2474	-			783					O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.2347G>C	CCDS31614.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238315|3.238315	0.58886|0.58886	.|.	.|.	ENSG00000174791|ENSG00000174791	ENST00000311320;ENST00000530056|ENST00000424433	T;T|T	0.19938|0.09538	2.79;2.11|2.97	3.61|3.61	3.61|3.61	0.41365|0.41365	.|.	.|.	.|.	.|.	.|.	T|T	0.12092|0.12092	0.0294|0.0294	L|L	0.34521|0.34521	1.04|1.04	0.24129|0.24129	N|N	0.995779|0.995779	P;P;P|.	0.41673|.	0.629;0.759;0.759|.	B;B;B|.	0.37267|.	0.137;0.137;0.245|.	T|T	0.16988|0.16988	-1.0384|-1.0384	9|7	0.87932|0.34782	D|T	0|0.22	.|.	11.0405|11.0405	0.47827|0.47827	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	617;414;783|.	E9PNR2;B4DW96;Q13671|.	.;.;RIN1_HUMAN|.	Q|S	783;617|583	ENSP00000310406:E783Q;ENSP00000432798:E617Q|ENSP00000400560:R583S	ENSP00000310406:E783Q|ENSP00000400560:R583S	E|R	-|-	1|3	0|2	RIN1|RIN1	65856328|65856328	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.053000|0.053000	0.15095|0.15095	0.345000|0.345000	0.19979|0.19979	2.301000|2.301000	0.77427|0.77427	0.462000|0.462000	0.41574|0.41574	GAG|AGG		0.632	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2		NM_004292		53	122	0	0	0	0.01441	0	53	122		
RIN1	9610	broad.mit.edu	37	11	66099842	66099842	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66099842C>G	ENST00000311320.4	-	10	2383	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	RIN1_ENST00000424433.2_Intron|RIN1_ENST00000530056.1_Missense_Mutation_p.E587Q|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	753					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GCAGTTGTCTCAGACTGTTCC	0.632																																						uc001ohn.1		NaN																	0				lung(2)|breast(1)	3						c.(2257-2259)GAG>CAG		ras inhibitor RIN1							134.0	131.0	132.0					11																	66099842		2200	4295	6495	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66099842C>G	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.2257G>C	11.37:g.66099842C>G	ENSP00000310406:p.Glu753Gln					RIN1_uc010roy.1_Missense_Mutation_p.E384Q|RIN1_uc009yrd.1_Missense_Mutation_p.E446Q|RIN1_uc010roz.1_Missense_Mutation_p.E648Q|RIN1_uc010rpa.1_Missense_Mutation_p.E587Q	p.E753Q	NM_004292	NP_004283	Q13671	RIN1_HUMAN			10	2384	-			753					O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.2257G>C	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760537	0.49468	.	.	ENSG00000174791	ENST00000311320;ENST00000530056	T;T	0.14640	3.07;2.49	4.39	1.21	0.21127	.	2.842460	0.01335	N	0.011373	T	0.13329	0.0323	L	0.29908	0.895	0.09310	N	1	B;B;B	0.15141	0.005;0.012;0.005	B;B;B	0.12156	0.002;0.007;0.004	T	0.35599	-0.9782	10	0.72032	D	0.01	-5.005	8.3989	0.32574	0.1546:0.5958:0.2495:0.0	.	587;384;753	E9PNR2;B4DW96;Q13671	.;.;RIN1_HUMAN	Q	753;587	ENSP00000310406:E753Q;ENSP00000432798:E587Q	ENSP00000310406:E753Q	E	-	1	0	RIN1	65856418	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.385000	0.20685	0.121000	0.18284	0.462000	0.41574	GAG		0.632	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2		NM_004292		60	159	0	0	0	0.01441	0	60	159		
NPAS4	266743	broad.mit.edu	37	11	66192561	66192561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66192561G>A	ENST00000311034.2	+	7	2376	c.2200G>A	c.(2200-2202)Gag>Aag	p.E734K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	734					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCCTGAGGCAGAGGGCCCAGG	0.577																																						uc001ohx.1		NaN																	0					0						c.(2200-2202)GAG>AAG		neuronal PAS domain protein 4							55.0	62.0	60.0					11																	66192561		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192561G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2200G>A	11.37:g.66192561G>A	ENSP00000311196:p.Glu734Lys					NPAS4_uc010rpc.1_Missense_Mutation_p.E524K	p.E734K	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	2376	+			734					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.2200G>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191554	0.38707	.	.	ENSG00000174576	ENST00000311034	T	0.46451	0.87	4.79	3.81	0.43845	.	0.236541	0.30329	N	0.009873	T	0.26159	0.0638	N	0.14661	0.345	0.24623	N	0.993661	B	0.11235	0.004	B	0.09377	0.004	T	0.20773	-1.0265	10	0.54805	T	0.06	-4.9356	11.9878	0.53157	0.0:0.0:0.8165:0.1835	.	734	Q8IUM7	NPAS4_HUMAN	K	734	ENSP00000311196:E734K	ENSP00000311196:E734K	E	+	1	0	NPAS4	65949137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.932000	0.48940	2.496000	0.84212	0.655000	0.94253	GAG		0.577	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1		NM_178864		30	139	0	0	0	0.007291	0	30	139		
BBS1	582	broad.mit.edu	37	11	66291352	66291352	+	Splice_Site	SNP	C	C	G	rs141255069		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66291352C>G	ENST00000318312.7	+	11	1160	c.1109C>G	c.(1108-1110)cCg>cGg	p.P370R	BBS1_ENST00000455748.2_Splice_Site_p.P273R|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Intron|CTD-3074O7.11_ENST00000419755.3_Splice_Site_p.P407R|BBS1_ENST00000529766.1_3'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	370					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						ATCCACACCCCGGTGAGCCCC	0.602									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	uc001oij.1		NaN																	0				ovary(1)	1						c.(1108-1110)CCG>CGG		Bardet-Biedl syndrome 1							48.0	48.0	48.0					11																	66291352		2200	4295	6495	SO:0001630	splice_region_variant	582	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding	g.chr11:66291352C>G	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1110+1C>G	11.37:g.66291352C>G						BBS1_uc001oii.1_Missense_Mutation_p.P407R|BBS1_uc010rpg.1_Missense_Mutation_p.P273R|BBS1_uc001oik.1_Missense_Mutation_p.P294R|BBS1_uc001oil.1_Intron|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Missense_Mutation_p.P38R	p.P370R	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN			11	1121	+			370					Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1109C>G	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638129	0.47153	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748	T;T;T	0.56941	0.43;0.43;0.43	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	T	0.65903	0.2736	M	0.73962	2.25	0.80722	D	1	P;D;D;D;D	0.60575	0.847;0.984;0.968;0.976;0.988	B;P;P;P;P	0.55545	0.336;0.778;0.669;0.577;0.706	T	0.63129	-0.6706	9	0.23891	T	0.37	.	16.6873	0.85312	0.0:1.0:0.0:0.0	.	45;273;258;370;407	B4DH75;E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;BBS1_HUMAN;.	R	407;370;273	ENSP00000398526:P407R;ENSP00000317469:P370R;ENSP00000405764:P273R	ENSP00000317469:P370R	P	+	2	0	BBS1;CTD-3074O7.11	66047928	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	2.568000	0.45965	2.536000	0.85505	0.561000	0.74099	CCG		0.602	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			Missense_Mutation	6	57	0	0	0	0.001984	0	6	57		
ADRBK1	156	broad.mit.edu	37	11	67051768	67051768	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:67051768C>T	ENST00000308595.5	+	18	1868	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	526					activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGACTGTCTTCGACACCATCA	0.602																																						uc009yrn.1		NaN																	0				large_intestine(1)	1						c.(1576-1578)TTC>TTT		beta-adrenergic receptor kinase 1	Adenosine triphosphate(DB00171)						92.0	78.0	83.0					11																	67051768		2200	4295	6495	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67051768C>T	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1578C>T	11.37:g.67051768C>T						ADRBK1_uc009yrm.1_Intron	p.F526F	NM_001619	NP_001610	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		18	1844	+			526					B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.1578C>T	CCDS8156.1																																																																																				0.602	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1		NM_001619		13	81	0	0	0	0.00245	0	13	81		
PPP6R3	55291	broad.mit.edu	37	11	68363635	68363635	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:68363635G>A	ENST00000393800.2	+	19	2241	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	PPP6R3_ENST00000265636.5_Missense_Mutation_p.E583K|PPP6R3_ENST00000265637.4_Missense_Mutation_p.E617K|PPP6R3_ENST00000393799.2_Missense_Mutation_p.E663K|PPP6R3_ENST00000393801.3_Missense_Mutation_p.E663K|PPP6R3_ENST00000524845.1_Missense_Mutation_p.E634K|PPP6R3_ENST00000529710.1_Missense_Mutation_p.E583K|PPP6R3_ENST00000527403.2_Missense_Mutation_p.E628K|PPP6R3_ENST00000534534.1_Missense_Mutation_p.E431K|PPP6R3_ENST00000524904.1_Missense_Mutation_p.E657K	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	663					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGACTTGTTTGAACCCAGCAG	0.453																																						uc001onw.2		NaN																	0					0						c.(1987-1989)GAA>AAA		SAPS domain family, member 3 isoform 6							174.0	145.0	155.0					11																	68363635		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68363635G>A	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1987G>A	11.37:g.68363635G>A	ENSP00000377389:p.Glu663Lys					SAPS3_uc001onv.2_Missense_Mutation_p.E663K|SAPS3_uc001ony.3_Missense_Mutation_p.E634K|SAPS3_uc001onx.2_Missense_Mutation_p.E657K|SAPS3_uc009ysh.2_Missense_Mutation_p.E583K|SAPS3_uc001onu.2_Missense_Mutation_p.E583K|SAPS3_uc010rqc.1_Missense_Mutation_p.E431K|SAPS3_uc010rqd.1_Missense_Mutation_p.E346K|SAPS3_uc001onz.2_5'UTR|SAPS3_uc001ooa.2_Missense_Mutation_p.E113K	p.E663K	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		19	2254	+			663					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.1987G>A	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445861	0.43429	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.24723	1.89;1.89;1.88;1.85;1.84;1.88;1.89;1.84;1.84;1.84;1.85	5.44	5.44	0.79542	.	0.293514	0.36972	N	0.002308	T	0.23766	0.0575	L	0.29908	0.895	0.80722	D	1	P;B;B;B;B;B;P;B	0.42078	0.77;0.247;0.38;0.024;0.38;0.262;0.695;0.053	B;B;B;B;B;B;B;B	0.43536	0.345;0.057;0.343;0.025;0.197;0.097;0.423;0.096	T	0.01869	-1.1257	10	0.09590	T	0.72	.	19.2822	0.94055	0.0:0.0:1.0:0.0	.	346;431;583;634;657;663;663;583	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	K	663;663;431;634;617;657;663;583;583;628;370	ENSP00000377388:E663K;ENSP00000377389:E663K;ENSP00000434429:E431K;ENSP00000431415:E634K;ENSP00000265637:E617K;ENSP00000433058:E657K;ENSP00000377390:E663K;ENSP00000265636:E583K;ENSP00000437329:E583K;ENSP00000433565:E628K;ENSP00000436209:E370K	ENSP00000265636:E583K	E	+	1	0	PPP6R3	68120211	1.000000	0.71417	0.992000	0.48379	0.575000	0.36095	9.600000	0.98282	2.548000	0.85928	0.591000	0.81541	GAA		0.453	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1		NM_018312		51	50	0	0	0	0.01441	0	51	50		
CPT1A	1374	broad.mit.edu	37	11	68527743	68527743	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:68527743C>G	ENST00000265641.5	-	17	2246	c.2092G>C	c.(2092-2094)Gac>Cac	p.D698H	CPT1A_ENST00000376618.2_Missense_Mutation_p.D698H|CPT1A_ENST00000537756.2_5'Flank|CPT1A_ENST00000540367.1_Missense_Mutation_p.D698H|CPT1A_ENST00000539743.1_Missense_Mutation_p.D698H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	698					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TTCTCCAAGTCAAACAGCTCC	0.557																																						uc001oog.3		NaN																	0				skin(2)	2						c.(2092-2094)GAC>CAC		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						70.0	59.0	63.0					11																	68527743		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68527743C>G	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.2092G>C	11.37:g.68527743C>G	ENSP00000265641:p.Asp698His					CPT1A_uc001oof.3_Missense_Mutation_p.D698H|CPT1A_uc009ysj.2_Intron	p.D698H	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		17	2262	-	Esophageal squamous(3;3.28e-14)		698			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.2092G>C	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307375	0.40795	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	4.79	-0.355	0.12587	.	0.287814	0.37178	N	0.002202	D	0.94355	0.8185	H	0.95079	3.62	0.54753	D	0.999982	D;B	0.58620	0.983;0.206	D;B	0.70935	0.971;0.334	D	0.91351	0.5104	10	0.66056	D	0.02	.	5.9104	0.19025	0.0:0.4874:0.1274:0.3851	.	698;698	P50416;P50416-2	CPT1A_HUMAN;.	H	698	ENSP00000439084:D698H;ENSP00000365803:D698H;ENSP00000265641:D698H;ENSP00000446108:D698H	ENSP00000265641:D698H	D	-	1	0	CPT1A	68284319	0.157000	0.22836	0.020000	0.16555	0.431000	0.31685	0.650000	0.24858	0.047000	0.15862	0.655000	0.94253	GAC		0.557	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2		NM_001876		16	16	0	0	0	0.003163	0	16	16		
MRGPRD	116512	broad.mit.edu	37	11	68747724	68747724	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:68747724G>A	ENST00000309106.3	-	1	731	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	244						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCAACCAGTAGAGCACAAACC	0.612																																						uc010rqf.1		NaN																	0				pancreas(1)	1						c.(730-732)CTC>CTT		MAS-related GPR, member D							67.0	57.0	60.0					11																	68747724		2200	4294	6494	SO:0001819	synonymous_variant	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747724G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.732C>T	11.37:g.68747724G>A							p.L244L	NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	732	-			244			Extracellular (Potential).		Q8NGK7	Silent	SNP	ENST00000309106.3	37	c.732C>T	CCDS31625.1																																																																																				0.612	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1		NM_198923		32	40	0	0	0	0.008361	0	32	40		
CCND1	595	broad.mit.edu	37	11	69458749	69458749	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:69458749C>T	ENST00000227507.2	+	3	791	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	188				L -> S (in Ref. 3; AAA52136). {ECO:0000305}.	canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TCGTTGCCCTCTGTGCCACAG	0.617			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	uc001opa.2		NaN		Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	IGH@|FSTL3		CLL|B-ALL|breast		0				ovary(1)|lung(1)	2						c.(562-564)CTC>CTT		cyclin D1	Arsenic trioxide(DB01169)						68.0	57.0	60.0					11																	69458749		2200	4294	6494	SO:0001819	synonymous_variant	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69458749C>T	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.564C>T	11.37:g.69458749C>T		Multiple Myeloma(6;0.086)					p.L188L	NM_053056	NP_444284	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		3	773	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		188	L -> S (in Ref. 3; AAA52136).				Q6LEF0	Silent	SNP	ENST00000227507.2	37	c.564C>T	CCDS8191.1																																																																																				0.617	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2		NM_053056		14	12	0	0	0	0.00245	0	14	12		
C2CD3	26005	broad.mit.edu	37	11	73796738	73796738	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:73796738C>T	ENST00000334126.7	-	21	4061	c.3835G>A	c.(3835-3837)Gag>Aag	p.E1279K	C2CD3_ENST00000313663.7_Missense_Mutation_p.E1279K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1279	C2 1.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAACAGGCCTCTCCACTACAG	0.473																																						uc001ouu.2		NaN																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(3835-3837)GAG>AAG		C2 calcium-dependent domain containing 3							77.0	71.0	73.0					11																	73796738		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73796738C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3835G>A	11.37:g.73796738C>T	ENSP00000334379:p.Glu1279Lys					C2CD3_uc001out.2_RNA	p.E1279K	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			21	4062	-	Breast(11;4.16e-06)		1279			C2 1.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.3835G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.855703	0.97030	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.19105	2.45;2.5;2.17	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	M	0.62723	1.935	0.53688	D	0.999972	D	0.71674	0.998	D	0.80764	0.994	T	0.31696	-0.9934	10	0.72032	D	0.01	-16.2342	19.9648	0.97261	0.0:1.0:0.0:0.0	.	1279	Q4AC94-1	.	K	1279;1279;1279;87	ENSP00000334379:E1279K;ENSP00000323339:E1279K;ENSP00000388750:E87K	ENSP00000323339:E1279K	E	-	1	0	C2CD3	73474386	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.598000	0.67585	2.811000	0.96726	0.655000	0.94253	GAG		0.473	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015531		16	34	0	0	0	0.003163	0	16	34		
OR2AT4	341152	broad.mit.edu	37	11	74800029	74800029	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:74800029A>G	ENST00000305159.3	-	1	770	c.730T>C	c.(730-732)Tcc>Ccc	p.S244P		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						CTGCAGGTGGAGAAGGCTTTT	0.567																																						uc010rro.1		NaN																	0				ovary(1)	1						c.(730-732)TCC>CCC		olfactory receptor, family 2, subfamily AT,							59.0	56.0	57.0					11																	74800029		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800029A>G	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.730T>C	11.37:g.74800029A>G	ENSP00000304846:p.Ser244Pro						p.S244P	NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN			1	730	-			244			Cytoplasmic (Potential).		B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.730T>C	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191183	0.58017	.	.	ENSG00000171561	ENST00000305159	T	0.72615	-0.67	5.26	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33040	U	0.005347	D	0.85974	0.5822	H	0.94698	3.57	0.33645	D	0.607765	D	0.64830	0.994	D	0.65874	0.939	D	0.91282	0.5052	10	0.87932	D	0	.	10.2838	0.43556	0.8345:0.1655:0.0:0.0	.	244	A6NND4	O2AT4_HUMAN	P	244	ENSP00000304846:S244P	ENSP00000304846:S244P	S	-	1	0	OR2AT4	74477677	0.865000	0.29922	1.000000	0.80357	0.994000	0.84299	1.385000	0.34408	2.115000	0.64714	0.528000	0.53228	TCC		0.567	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1		NM_001005285		14	20	0	0	0	0.004007	0	14	20		
C11orf30	56946	broad.mit.edu	37	11	76255317	76255317	+	Silent	SNP	C	C	T	rs146751469		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:76255317C>T	ENST00000529032.1	+	18	2724	c.2724C>T	c.(2722-2724)caC>caT	p.H908H	C11orf30_ENST00000343878.3_Silent_p.H908H|C11orf30_ENST00000533248.1_Silent_p.H817H|C11orf30_ENST00000524767.1_Silent_p.H923H|C11orf30_ENST00000334736.3_Silent_p.H908H|C11orf30_ENST00000524490.1_Silent_p.H810H|C11orf30_ENST00000525919.1_Silent_p.H909H|C11orf30_ENST00000525038.1_Silent_p.H909H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	908					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TAAGCAGTCACACTGCTTTTA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		20612	0.001		0.0	False		,,,				2504	0.0					uc001oxl.2		NaN																	0				ovary(5)|skin(1)	6						c.(2722-2724)CAC>CAT		EMSY protein							83.0	74.0	77.0					11																	76255317		2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76255317C>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2724C>T	11.37:g.76255317C>T						C11orf30_uc001oxm.2_Silent_p.H810H|C11orf30_uc010rsb.1_Silent_p.H923H|C11orf30_uc010rsc.1_Silent_p.H909H|C11orf30_uc001oxn.2_Silent_p.H909H|C11orf30_uc010rsd.1_Silent_p.H817H|C11orf30_uc001oxo.1_Silent_p.H262H|C11orf30_uc010rse.1_Silent_p.H155H|C11orf30_uc001oxp.2_Silent_p.H8H	p.H908H	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			19	2867	+			908					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.2724C>T	CCDS8244.1																																																																																				0.403	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2		NM_020193		17	41	0	0	0	0.00499	0	17	41		
AQP11	282679	broad.mit.edu	37	11	77301461	77301461	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:77301461G>A	ENST00000313578.3	+	1	782	c.424G>A	c.(424-426)Ggt>Agt	p.G142S	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	142					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GTGGAGCTTGGGTCTGACCCA	0.602																																						uc001oyj.2		NaN																	0					0						c.(424-426)GGT>AGT		aquaporin 11							96.0	76.0	83.0					11																	77301461		2200	4292	6492	SO:0001583	missense	282679					cell surface|integral to membrane	transporter activity	g.chr11:77301461G>A	AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.424G>A	11.37:g.77301461G>A	ENSP00000318770:p.Gly142Ser					AQP11_uc009yuu.2_Intron	p.G142S	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)		1	782	+	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		142						Missense_Mutation	SNP	ENST00000313578.3	37	c.424G>A	CCDS8251.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992295	0.35131	.	.	ENSG00000178301	ENST00000313578	D	0.84800	-1.9	5.54	3.66	0.41972	Aquaporin-like (2);	0.347087	0.33075	N	0.005318	T	0.78811	0.4342	L	0.45137	1.4	0.42538	D	0.993063	P	0.38110	0.618	B	0.39840	0.311	T	0.71310	-0.4631	10	0.13853	T	0.58	-21.5452	11.2052	0.48765	0.1498:0.0:0.8502:0.0	.	142	Q8NBQ7	AQP11_HUMAN	S	142	ENSP00000318770:G142S	ENSP00000318770:G142S	G	+	1	0	AQP11	76979109	1.000000	0.71417	0.989000	0.46669	0.194000	0.23727	3.296000	0.51802	0.690000	0.31570	-0.339000	0.08088	GGT		0.602	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382582.1		NM_173039		20	29	0	0	0	0.008871	0	20	29		
AQP11	282679	broad.mit.edu	37	11	77301511	77301511	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:77301511C>T	ENST00000313578.3	+	1	832	c.474C>T	c.(472-474)ccC>ccT	p.P158P	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	158					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GCAAGAATCCCATCCGAGTCG	0.567																																						uc001oyj.2		NaN																	0					0						c.(472-474)CCC>CCT		aquaporin 11							103.0	92.0	96.0					11																	77301511		2200	4292	6492	SO:0001819	synonymous_variant	282679					cell surface|integral to membrane	transporter activity	g.chr11:77301511C>T	AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.474C>T	11.37:g.77301511C>T						AQP11_uc009yuu.2_Intron	p.P158P	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)		1	832	+	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		158						Silent	SNP	ENST00000313578.3	37	c.474C>T	CCDS8251.1																																																																																				0.567	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382582.1		NM_173039		28	49	0	0	0	0.004656	0	28	49		
TENM4	26011	broad.mit.edu	37	11	78399156	78399156	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:78399156C>T	ENST00000278550.7	-	29	5665	c.5203G>A	c.(5203-5205)Gat>Aat	p.D1735N		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1735					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										ATGGTGACATCATCCTTGCTG	0.562																																						uc001ozl.3		NaN																	0				ovary(2)|pancreas(2)	4						c.(5203-5205)GAT>AAT		odz, odd Oz/ten-m homolog 4							208.0	213.0	211.0					11																	78399156		2098	4191	6289	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78399156C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5203G>A	11.37:g.78399156C>T	ENSP00000278550:p.Asp1735Asn					ODZ4_uc009yvb.1_Missense_Mutation_p.D319N	p.D1735N	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			29	5666	-			1735			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.5203G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594268	0.46214	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89681	-2.55;0.91	4.96	4.96	0.65561	.	0.052227	0.85682	D	0.000000	T	0.75042	0.3796	N	0.02391	-0.57	0.58432	D	0.999999	B	0.15141	0.012	B	0.12156	0.007	T	0.70498	-0.4855	9	.	.	.	.	18.4218	0.90594	0.0:1.0:0.0:0.0	.	1735	Q6N022	TEN4_HUMAN	N	1735;199	ENSP00000278550:D1735N;ENSP00000431711:D199N	.	D	-	1	0	ODZ4	78076804	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.787000	0.69013	2.572000	0.86782	0.655000	0.94253	GAT		0.562	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2				25	78	0	0	0	0.00333	0	25	78		
DDIAS	220042	broad.mit.edu	37	11	82625788	82625788	+	Missense_Mutation	SNP	G	G	A	rs142883872	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:82625788G>A	ENST00000533655.1	+	3	220	c.8G>A	c.(7-9)aGa>aAa	p.R3K	C11orf82_ENST00000524921.1_Missense_Mutation_p.R3K|C11orf82_ENST00000525361.1_Missense_Mutation_p.R3K|C11orf82_ENST00000430323.2_Missense_Mutation_p.R3K|C11orf82_ENST00000528759.1_Missense_Mutation_p.R3K|C11orf82_ENST00000525388.1_Missense_Mutation_p.R3K|C11orf82_ENST00000329143.3_5'UTR	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		3					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CACATGAACAGAAGACGAAAA	0.398																																						uc001ozt.2		NaN																	0				ovary(2)	2						c.(7-9)AGA>AAA		nitric oxide-inducible gene protein		G	LYS/ARG	3,4403	6.2+/-15.9	0,3,2200	106.0	98.0	101.0		8	3.4	1.0	11	dbSNP_134	101	0,8600		0,0,4300	no	missense	C11orf82	NM_145018.3	26	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	3/999	82625788	3,13003	2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82625788G>A																												ENST00000533655.1:c.8G>A	11.37:g.82625788G>A	ENSP00000435421:p.Arg3Lys					C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_5'UTR|C11orf82_uc009yvd.2_Missense_Mutation_p.R3K	p.R3K	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			3	252	+			3					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.8G>A	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	6.241	0.412563	0.11812	6.81E-4	0.0	ENSG00000165490	ENST00000532277;ENST00000524921;ENST00000528759;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000532589;ENST00000525388;ENST00000528262	T;T	0.14893	2.47;2.47	5.33	3.43	0.39272	.	0.836008	0.11206	N	0.588171	T	0.09555	0.0235	N	0.12182	0.205	0.80722	D	1	B;B	0.20052	0.041;0.02	B;B	0.15052	0.011;0.012	T	0.16571	-1.0398	9	.	.	.	-0.1476	9.5575	0.39348	0.1685:0.0:0.8315:0.0	.	3;3	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	K	3;3;3;3;3;3;64;3;3;3	ENSP00000414687:R3K;ENSP00000435421:R3K	.	R	+	2	0	C11orf82	82303436	0.985000	0.35326	0.980000	0.43619	0.962000	0.63368	0.316000	0.19469	0.604000	0.29930	-0.140000	0.14226	AGA		0.398	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1				10	52	0	0	0	0.010729	0	10	52		
PCF11	51585	broad.mit.edu	37	11	82877677	82877677	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:82877677G>A	ENST00000298281.4	+	5	2190	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	580					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTCAGGCACTGAACCAAAGGA	0.388																																						uc001ozx.3		NaN																	0				ovary(1)	1						c.(1738-1740)GAA>AAA		pre-mRNA cleavage complex II protein Pcf11							64.0	64.0	64.0					11																	82877677		1848	4073	5921	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877677G>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1738G>A	11.37:g.82877677G>A	ENSP00000298281:p.Glu580Lys					PCF11_uc010rsu.1_Missense_Mutation_p.E580K	p.E580K	NM_015885	NP_056969	O94913	PCF11_HUMAN			5	2083	+			580					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1738G>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456878	0.63401	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.48522	1.79;0.82;0.81	6.07	6.07	0.98685	.	0.193914	0.36444	N	0.002584	T	0.37461	0.1004	N	0.24115	0.695	0.38223	D	0.94082	P;B	0.38922	0.651;0.058	B;B	0.35931	0.214;0.033	T	0.17048	-1.0382	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	580;580	E9PQ01;O94913	.;PCF11_HUMAN	K	580	ENSP00000298281:E580K;ENSP00000434540:E580K;ENSP00000431567:E580K	.	E	+	1	0	PCF11	82555325	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	6.778000	0.75043	2.885000	0.99019	0.655000	0.94253	GAA		0.388	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2		NM_015885		18	88	0	0	0	0.006122	0	18	88		
PCF11	51585	broad.mit.edu	37	11	82877695	82877695	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:82877695G>A	ENST00000298281.4	+	5	2208	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	586					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGAGAATGTAGAAAACTGGCA	0.393																																						uc001ozx.3		NaN																	0				ovary(1)	1						c.(1756-1758)GAA>AAA		pre-mRNA cleavage complex II protein Pcf11							67.0	67.0	67.0					11																	82877695		1810	4032	5842	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877695G>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1756G>A	11.37:g.82877695G>A	ENSP00000298281:p.Glu586Lys					PCF11_uc010rsu.1_Missense_Mutation_p.E586K	p.E586K	NM_015885	NP_056969	O94913	PCF11_HUMAN			5	2101	+			586					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1756G>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678085	0.88542	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.50277	1.74;0.77;0.75	6.07	6.07	0.98685	.	0.095438	0.46145	D	0.000315	T	0.54481	0.1861	L	0.29908	0.895	0.51767	D	0.999931	D;P	0.67145	0.996;0.457	P;B	0.57620	0.824;0.129	T	0.41945	-0.9480	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	586;586	E9PQ01;O94913	.;PCF11_HUMAN	K	586	ENSP00000298281:E586K;ENSP00000434540:E586K;ENSP00000431567:E586K	.	E	+	1	0	PCF11	82555343	1.000000	0.71417	0.988000	0.46212	0.968000	0.65278	6.877000	0.75562	2.885000	0.99019	0.655000	0.94253	GAA		0.393	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2		NM_015885		62	45	0	0	0	0.01441	0	62	45		
CCDC89	220388	broad.mit.edu	37	11	85396454	85396454	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:85396454G>A	ENST00000316398.3	-	1	866	c.720C>T	c.(718-720)caC>caT	p.H240H	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	240						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGCCTGCTGGTGCTGCTGCT	0.617																																						uc001pau.1		NaN																	0					0						c.(718-720)CAC>CAT		coiled-coil domain containing 89							55.0	53.0	54.0					11																	85396454		2203	4299	6502	SO:0001819	synonymous_variant	220388					cytoplasm|nucleus		g.chr11:85396454G>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.720C>T	11.37:g.85396454G>A							p.H240H	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	867	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	240			Potential.			Silent	SNP	ENST00000316398.3	37	c.720C>T	CCDS8270.1																																																																																				0.617	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1		NM_152723		19	107	0	0	0	0.014323	0	19	107		
C11orf73	51501	broad.mit.edu	37	11	86048553	86048553	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:86048553C>T	ENST00000278483.3	+	3	627	c.401C>T	c.(400-402)tCa>tTa	p.S134L	C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000533986.1_Missense_Mutation_p.S134L	NM_016401.3	NP_057485.2	Q53FT3	HIKES_HUMAN	chromosome 11 open reading frame 73	134					cellular response to heat (GO:0034605)|Golgi organization (GO:0007030)|lung development (GO:0030324)|protein import into nucleus (GO:0006606)|protein transport (GO:0015031)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	Hsp70 protein binding (GO:0030544)|protein transporter activity (GO:0008565)			kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				GCTGTATCCTCAGTTGACTCA	0.383																																						uc001pbu.2		NaN																	0					0						c.(400-402)TCA>TTA		lethal, Chr 7, Rinchik 6							169.0	159.0	162.0					11																	86048553		2202	4299	6501	SO:0001583	missense	51501					cytoplasm		g.chr11:86048553C>T	BC015991	CCDS8275.1	11q14.2	2013-03-12			ENSG00000149196	ENSG00000149196			26938	protein-coding gene	gene with protein product		614908				11042152, 22541429	Standard	NM_016401		Approved	HSPC138, HSPC179, Hikeshi, OPI10	uc001pbu.3	Q53FT3	OTTHUMG00000167212	ENST00000278483.3:c.401C>T	11.37:g.86048553C>T	ENSP00000278483:p.Ser134Leu					C11orf73_uc001pbt.2_Missense_Mutation_p.S134L|C11orf73_uc010rto.1_RNA|C11orf73_uc010rtp.1_Missense_Mutation_p.S35L|C11orf73_uc001pbv.2_RNA	p.S134L	NM_016401	NP_057485	Q53FT3	CK073_HUMAN			3	639	+		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)	134					Q8WVE8|Q9NVQ2|Q9NZZ1|Q9P022|Q9P0N1	Missense_Mutation	SNP	ENST00000278483.3	37	c.401C>T	CCDS8275.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497318	0.64186	.	.	ENSG00000149196	ENST00000533986;ENST00000278483	T;T	0.44881	0.91;0.91	5.07	4.1	0.47936	.	0.184943	0.45606	D	0.000356	T	0.40522	0.1120	L	0.58101	1.795	0.42629	D	0.993379	B;B	0.29212	0.066;0.237	B;B	0.31101	0.102;0.124	T	0.30621	-0.9972	9	.	.	.	-11.7134	15.0738	0.72059	0.142:0.858:0.0:0.0	.	134;134	Q53FT3;E9PPG8	CK073_HUMAN;.	L	134	ENSP00000432699:S134L;ENSP00000278483:S134L	.	S	+	2	0	C11orf73	85726201	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	5.124000	0.64709	2.519000	0.84933	0.555000	0.69702	TCA		0.383	C11orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393747.1		NM_016401		48	319	0	0	0	0.01441	0	48	319		
HEPHL1	341208	broad.mit.edu	37	11	93796691	93796692	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:93796691_93796692GG>AA	ENST00000315765.9	+	3	441_442	c.433_434GG>AA	c.(433-435)GGa>AAa	p.G145K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	145	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)				ATACCCAGATGGAACATCTGGA	0.416																																						uc001pep.2		NaN																	0				ovary(3)	3						c.(433-435)GGA>AAA		hephaestin-like 1 precursor																																				SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93796691_93796692GG>AA	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	Exception_encountered	11.37:g.93796691_93796692delinsAA	ENSP00000313699:p.Gly145Lys						p.G145K	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			3	590_591	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	145			Plastocyanin-like 1.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	DNP	ENST00000315765.9	37	c.433_434GG>AA	CCDS44710.1																																																																																				0.416	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2		XM_291947		6	7	0	0	0	0.004672	0	6	7		
HEPHL1	341208	broad.mit.edu	37	11	93808405	93808405	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:93808405G>A	ENST00000315765.9	+	9	1578	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	524	Plastocyanin-like 3.				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)				GACAGTGCCTGAGAGCGTAAG	0.468																																						uc001pep.2		NaN																	0				ovary(3)	3						c.(1570-1572)GAG>AAG		hephaestin-like 1 precursor							84.0	82.0	83.0					11																	93808405		2001	4169	6170	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93808405G>A	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.1570G>A	11.37:g.93808405G>A	ENSP00000313699:p.Glu524Lys					uc001pen.1_Intron	p.E524K	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			9	1727	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	524			Plastocyanin-like 3.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1570G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274661	0.40194	.	.	ENSG00000181333	ENST00000315765	D	0.99089	-5.41	5.28	4.36	0.52297	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.101398	0.64402	D	0.000003	D	0.97365	0.9138	L	0.45285	1.41	0.43628	D	0.996012	B	0.23377	0.084	B	0.33960	0.173	D	0.96223	0.9162	10	0.17369	T	0.5	.	13.523	0.61578	0.0749:0.0:0.9251:0.0	.	524	Q6MZM0	HPHL1_HUMAN	K	524	ENSP00000313699:E524K	ENSP00000313699:E524K	E	+	1	0	HEPHL1	93448053	1.000000	0.71417	0.857000	0.33713	0.789000	0.44602	5.277000	0.65586	1.209000	0.43321	0.650000	0.86243	GAG		0.468	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2		XM_291947		12	21	0	0	0	0.013537	0	12	21		
GPR83	10888	broad.mit.edu	37	11	94113882	94113882	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:94113882G>A	ENST00000243673.2	-	4	876	c.705C>T	c.(703-705)ttC>ttT	p.F235F	GPR83_ENST00000539203.2_Silent_p.F193F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	235					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGTACTTCCAGAAGAGGTCAG	0.587																																						uc001pet.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(703-705)TTC>TTT		G protein-coupled receptor 83 precursor							76.0	75.0	75.0					11																	94113882		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113882G>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.705C>T	11.37:g.94113882G>A							p.F235F	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			4	877	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	235			Extracellular (Potential).		B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.705C>T	CCDS8297.1																																																																																				0.587	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1		NM_016540		5	20	0	0	0	0.000602	0	5	20		
GPR83	10888	broad.mit.edu	37	11	94113903	94113903	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:94113903G>T	ENST00000243673.2	-	4	855	c.684C>A	c.(682-684)ttC>ttA	p.F228L	GPR83_ENST00000539203.2_Missense_Mutation_p.F186L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	228					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGGCTCAGGGAAGTCTGGCA	0.572																																						uc001pet.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(682-684)TTC>TTA		G protein-coupled receptor 83 precursor							71.0	71.0	71.0					11																	94113903		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113903G>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.684C>A	11.37:g.94113903G>T	ENSP00000243673:p.Phe228Leu						p.F228L	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			4	856	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	228			Extracellular (Potential).		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.684C>A	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747895	0.69533	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.72394	-0.65;-0.65	5.41	0.314	0.15847	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	M	0.65677	2.01	0.58432	D	0.999999	D	0.62365	0.991	D	0.70487	0.969	T	0.76075	-0.3092	10	0.59425	D	0.04	.	9.6027	0.39615	0.3569:0.0:0.6431:0.0	.	228	Q9NYM4	GPR83_HUMAN	L	228;186	ENSP00000243673:F228L;ENSP00000441550:F186L	ENSP00000243673:F228L	F	-	3	2	GPR83	93753551	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.742000	0.47434	0.030000	0.15379	0.655000	0.94253	TTC		0.572	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1		NM_016540		5	24	1	0	5.9392e-07	0.001168	6.10519e-07	5	24		
MMP12	4321	broad.mit.edu	37	11	102736603	102736603	+	RNA	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:102736603G>T	ENST00000532855.1	-	0	1204							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AAAACCAAAAGAATGTATGCT	0.328																																						uc001phk.2		NaN																	0					0						c.(1108-1110)TCT>TAT		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						69.0	68.0	68.0					11																	102736603		1798	4060	5858			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102736603G>T	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102736603G>T							p.S370Y	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	9	1154	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	370			Hemopexin-like 2.		B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37	c.1109C>A																																																																																					0.328	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1		NM_002426		13	24	1	0	4.36969e-10	0.001855	4.54565e-10	13	24		
CASP1	834	broad.mit.edu	37	11	104899926	104899926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:104899926C>A	ENST00000533400.1	-	7	966	c.931G>T	c.(931-933)Gaa>Taa	p.E311*	CASP1_ENST00000527979.1_Nonsense_Mutation_p.E274*|CASP1_ENST00000528974.1_Nonsense_Mutation_p.E272*|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000436863.3_Nonsense_Mutation_p.E311*|CASP1_ENST00000526568.1_Nonsense_Mutation_p.E218*|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Nonsense_Mutation_p.E290*|CASP1_ENST00000393136.4_Nonsense_Mutation_p.E290*|CASP1_ENST00000598974.1_Nonsense_Mutation_p.E311*|CASP1_ENST00000525825.1_Nonsense_Mutation_p.E290*|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000446369.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	311					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCAAACTCTTCTGTAGTTGGT	0.413																																					NSCLC(41;1246 1743 4934)	uc010rve.1		NaN																	0				ovary(2)	2						c.(931-933)GAA>TAA		caspase 1 isoform alpha precursor	Minocycline(DB01017)|Penicillamine(DB00859)						98.0	91.0	93.0					11																	104899926		2202	4299	6501	SO:0001587	stop_gained	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104899926C>A	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.931G>T	11.37:g.104899926C>A	ENSP00000433138:p.Glu311*					CASP1_uc001pig.2_Nonsense_Mutation_p.E218*|CASP1_uc001pik.2_Nonsense_Mutation_p.E274*|CASP1_uc010rvf.1_Nonsense_Mutation_p.E218*|CASP1_uc010rvg.1_Nonsense_Mutation_p.E290*|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Nonsense_Mutation_p.E311*|CASP1_uc009yxi.2_Nonsense_Mutation_p.E290*|CASP1_uc010rvj.1_Nonsense_Mutation_p.E311*|CASP1_uc009yxj.2_Nonsense_Mutation_p.E156*|CASP1_uc010rvk.1_Nonsense_Mutation_p.E272*	p.E311*	NM_033292	NP_150634	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	7	948	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	311					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Nonsense_Mutation	SNP	ENST00000533400.1	37	c.931G>T	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.955038	0.73902	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	.	.	.	3.69	0.766	0.18476	.	2.317120	0.01513	N	0.018033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.9232	0.24399	0.0:0.6616:0.0:0.3384	.	.	.	.	X	160;218;274;311;311;290;290;272	.	ENSP00000376844:E290X	E	-	1	0	CASP1	104405136	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.088000	0.14979	0.174000	0.19809	0.557000	0.71058	GAA		0.413	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1		NM_033292		16	40	1	0	9.16793e-09	0.00499	9.49614e-09	16	40		
GUCY1A2	2977	broad.mit.edu	37	11	106680837	106680837	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:106680837G>A	ENST00000526355.2	-	5	2042	c.1574C>T	c.(1573-1575)tCa>tTa	p.S525L	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S525L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S546L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	525	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	AACAATGTCTGAAAAGAGCAT	0.453																																						uc001pjg.1		NaN																	0				large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1573-1575)TCA>TTA		guanylate cyclase 1, soluble, alpha 2							125.0	116.0	119.0					11																	106680837		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106680837G>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1574C>T	11.37:g.106680837G>A	ENSP00000431245:p.Ser525Leu					GUCY1A2_uc010rvo.1_Missense_Mutation_p.S546L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S525L	p.S525L	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	5	1964	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	525			Guanylate cyclase.		A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1574C>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824754	0.90955	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.85013	-1.93;-1.5;-1.93	5.57	5.57	0.84162	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.39210	U	0.001421	D	0.95194	0.8442	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96379	0.9280	10	0.87932	D	0	.	18.6083	0.91275	0.0:0.0:1.0:0.0	.	546;525;525	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	L	525;525;546	ENSP00000431245:S525L;ENSP00000282249:S525L;ENSP00000344874:S546L	ENSP00000282249:S525L	S	-	2	0	GUCY1A2	106186047	1.000000	0.71417	0.790000	0.31976	0.934000	0.57294	9.865000	0.99609	2.645000	0.89757	0.644000	0.83932	TCA		0.453	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2				18	41	0	0	0	0.006122	0	18	41		
RAB39A	54734	broad.mit.edu	37	11	107799300	107799300	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:107799300G>C	ENST00000320578.2	+	1	72	c.6G>C	c.(4-6)gaG>gaC	p.E2D	SLC35F2_ENST00000429869.1_5'Flank|SLC35F2_ENST00000525071.1_5'Flank	NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	2					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										GAGCGATGGAGACCATCTGGA	0.711																																						uc001pjt.2		NaN																	0					0						c.(4-6)GAG>GAC		RAB39, member RAS oncogene family							51.0	49.0	50.0					11																	107799300		2201	4298	6499	SO:0001583	missense	54734				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr11:107799300G>C	X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"""RAB, member RAS oncogene"""	16521	protein-coding gene	gene with protein product	"""rab-related GTP-binding protein"""		"""RAB39, member RAS oncogene family"""	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.6G>C	11.37:g.107799300G>C	ENSP00000322594:p.Glu2Asp						p.E2D	NM_017516	NP_059986	Q14964	RB39A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179)	1	24	+			2					A8KAA4|Q8N6W2	Missense_Mutation	SNP	ENST00000320578.2	37	c.6G>C	CCDS8338.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452520	0.63290	.	.	ENSG00000179331	ENST00000320578	T	0.66638	-0.22	4.8	3.89	0.44902	.	0.203231	0.34628	N	0.003805	T	0.60248	0.2254	N	0.12663	0.25	0.34002	D	0.650381	D	0.76494	0.999	D	0.78314	0.991	T	0.61357	-0.7079	10	0.09843	T	0.71	.	8.7056	0.34351	0.1773:0.0:0.8227:0.0	.	2	Q14964	RB39A_HUMAN	D	2	ENSP00000322594:E2D	ENSP00000322594:E2D	E	+	3	2	RAB39	107304510	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.572000	0.45999	1.383000	0.46405	0.555000	0.69702	GAG		0.711	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389423.1		NM_017516		4	5	0	0	0	0.009096	0	4	5		
CUL5	8065	broad.mit.edu	37	11	107968457	107968457	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:107968457C>T	ENST00000393094.2	+	17	2616	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	667					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ACCCTCTTCTCAGTGAACCAG	0.348																																						uc001pjv.2		NaN																	0				ovary(1)	1						c.(1999-2001)TCA>TTA		Vasopressin-activated calcium-mobilizing							103.0	98.0	99.0					11																	107968457		2201	4298	6499	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107968457C>T	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.2000C>T	11.37:g.107968457C>T	ENSP00000376808:p.Ser667Leu					CUL5_uc001pju.2_RNA	p.S667L	NM_003478	NP_003469	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	17	2667	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	667					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.2000C>T	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877451	0.33162	.	.	ENSG00000166266	ENST00000393094	T	0.74209	-0.82	5.63	5.63	0.86233	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (1);	0.071658	0.64402	D	0.000014	T	0.66177	0.2763	L	0.38175	1.15	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.61013	-0.7148	10	0.10902	T	0.67	-11.0216	20.054	0.97641	0.0:1.0:0.0:0.0	.	667	Q93034	CUL5_HUMAN	L	667	ENSP00000376808:S667L	ENSP00000376808:S667L	S	+	2	0	CUL5	107473667	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	2.893000	0.48633	2.808000	0.96608	0.655000	0.94253	TCA		0.348	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1				23	47	0	0	0	0.00333	0	23	47		
PPP2R1B	5519	broad.mit.edu	37	11	111614220	111614220	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:111614220G>A	ENST00000527614.1	-	12	1499	c.1434C>T	c.(1432-1434)ctC>ctT	p.L478L	PPP2R1B_ENST00000393055.2_Silent_p.L351L|PPP2R1B_ENST00000427203.2_Silent_p.L317L|PPP2R1B_ENST00000426998.2_Silent_p.L414L|PPP2R1B_ENST00000311129.5_Silent_p.L478L|PPP2R1B_ENST00000341980.6_Silent_p.L433L	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	478					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTAGTTTCATGAGGTTGTTGG	0.383																																						uc001plx.1		NaN																	0					0						c.(1432-1434)CTC>CTT		beta isoform of regulatory subunit A, protein							171.0	157.0	162.0					11																	111614220		2201	4297	6498	SO:0001819	synonymous_variant	5519						protein binding	g.chr11:111614220G>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1434C>T	11.37:g.111614220G>A						PPP2R1B_uc001plw.1_Silent_p.L478L|PPP2R1B_uc010rwi.1_Silent_p.L414L|PPP2R1B_uc010rwj.1_Silent_p.L317L|PPP2R1B_uc010rwk.1_Silent_p.L433L|PPP2R1B_uc010rwl.1_Silent_p.L351L	p.L478L	NM_002716	NP_002707	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	12	1518	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	478			HEAT 12.		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Silent	SNP	ENST00000527614.1	37	c.1434C>T	CCDS8349.1																																																																																				0.383	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1		NM_002716		49	83	0	0	0	0.01441	0	49	83		
C11orf1	64776	broad.mit.edu	37	11	111753253	111753253	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:111753253G>T	ENST00000260276.3	+	2	544	c.207G>T	c.(205-207)ctG>ctT	p.L69L	C11orf1_ENST00000528125.1_Silent_p.L23L|C11orf1_ENST00000529270.1_Silent_p.L109L|C11orf1_ENST00000530214.1_Silent_p.L69L	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	69						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ACCGTACCCTGATGGGCAACT	0.438																																						uc001pmd.2		NaN																	0					0						c.(205-207)CTG>CTT		hypothetical protein LOC64776							125.0	115.0	118.0					11																	111753253		2201	4297	6498	SO:0001819	synonymous_variant	64776					nucleus		g.chr11:111753253G>T	AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.207G>T	11.37:g.111753253G>T						C11orf1_uc001pme.2_Silent_p.L109L	p.L69L	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)	2	544	+		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)	69					Q6I9X7|Q9NQC6	Silent	SNP	ENST00000260276.3	37	c.207G>T	CCDS8350.1																																																																																				0.438	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1		NM_022761		13	16	1	0	4.3838e-07	0.001855	4.5106e-07	13	16		
CLDN25	644672	broad.mit.edu	37	11	113651192	113651192	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:113651192G>A	ENST00000453129.2	+	1	724	c.675G>A	c.(673-675)agG>agA	p.R225R		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TAAGACCTAGGAACCTGGTCA	0.498																																						uc009yyw.1		NaN																	0					0						c.(673-675)AGG>AGA		claudin 25							61.0	59.0	60.0					11																	113651192		1930	4146	6076	SO:0001819	synonymous_variant	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113651192G>A		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.675G>A	11.37:g.113651192G>A							p.R225R	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			1	675	+			225			Cytoplasmic (Potential).			Silent	SNP	ENST00000453129.2	37	c.675G>A	CCDS44736.1																																																																																				0.498	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1		NM_001101389		21	50	0	0	0	0.010504	0	21	50		
KMT2A	4297	broad.mit.edu	37	11	118348840	118348840	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:118348840G>A	ENST00000389506.5	+	5	3493	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	KMT2A_ENST00000534358.1_Missense_Mutation_p.E1165K|KMT2A_ENST00000354520.4_Missense_Mutation_p.E1165K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1165					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.E1165Q(1)									CCAGGTGCCTGAGGACTGTGG	0.498																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		1	Substitution - Missense(1)		skin(1)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(3493-3495)GAG>AAG		myeloid/lymphoid or mixed-lineage leukemia							167.0	165.0	165.0					11																	118348840		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118348840G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3493G>A	11.37:g.118348840G>A	ENSP00000374157:p.Glu1165Lys					MLL_uc001ptb.2_Missense_Mutation_p.E1165K	p.E1165K	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	5	3516	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1165			CXXC-type.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.3493G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524640	0.85600	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000533790	D;T;D;D	0.83673	-1.75;0.68;-1.75;-1.7	6.06	6.06	0.98353	Zinc finger, CXXC-type (2);	0.000000	0.85682	D	0.000000	D	0.84211	0.5422	L	0.31065	0.9	0.52099	D	0.999947	D;D	0.53619	0.961;0.961	P;P	0.53224	0.721;0.721	D	0.84916	0.0851	10	0.66056	D	0.02	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1165;1165	E9PQG7;Q03164	.;MLL1_HUMAN	K	1165;1198;1165;1165;75;243	ENSP00000436786:E1165K;ENSP00000432391:E1198K;ENSP00000374157:E1165K;ENSP00000346516:E1165K	ENSP00000346516:E1165K	E	+	1	0	MLL	117854050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.924000	0.87555	2.882000	0.98803	0.655000	0.94253	GAG		0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		50	96	0	0	0	0.01441	0	50	96		
BCL9L	283149	broad.mit.edu	37	11	118773239	118773239	+	Missense_Mutation	SNP	C	C	T	rs571501612		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:118773239C>T	ENST00000334801.3	-	6	2177	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	405	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCCCGATGCTCCAGCTGCTCT	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		12688	0.0		0.001	False		,,,				2504	0.0					uc001pug.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1213-1215)GAG>AAG		B-cell CLL/lymphoma 9-like							33.0	38.0	36.0					11																	118773239		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773239C>T	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1213G>A	11.37:g.118773239C>T	ENSP00000335320:p.Glu405Lys					BCL9L_uc009zal.2_Missense_Mutation_p.E400K	p.E405K	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2178	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	405			Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1213G>A	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789676	0.90367	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.73258	-0.73	4.07	4.07	0.47477	B-cell lymphoma 9, beta-catenin binding domain (1);	0.000000	0.42548	D	0.000681	T	0.75860	0.3907	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.80322	-0.1431	10	0.87932	D	0	-15.7444	16.4389	0.83894	0.0:1.0:0.0:0.0	.	400;405	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	K	405;368;405;405	ENSP00000335320:E405K	ENSP00000335320:E405K	E	-	1	0	BCL9L	118278449	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.595000	0.82710	2.110000	0.64415	0.305000	0.20034	GAG		0.687	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1		NM_182557		6	19	0	0	0	0.00308	0	6	19		
NLRX1	79671	broad.mit.edu	37	11	119044232	119044232	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:119044232C>G	ENST00000409109.1	+	5	861	c.274C>G	c.(274-276)Cgg>Ggg	p.R92G	NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.R92G|NLRX1_ENST00000292199.2_Missense_Mutation_p.R92G|NLRX1_ENST00000409991.1_Missense_Mutation_p.R92G|NLRX1_ENST00000409265.4_Missense_Mutation_p.R92G	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	92	Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTGGTTCAGCCGGCTGCCCAG	0.587																																						uc001pvu.2		NaN																	0				ovary(1)|skin(1)	2						c.(274-276)CGG>GGG		NLR family member X1 isoform 1							58.0	61.0	60.0					11																	119044232		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119044232C>G	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.274C>G	11.37:g.119044232C>G	ENSP00000387334:p.Arg92Gly					NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.2_Missense_Mutation_p.R92G|NLRX1_uc001pvw.2_Missense_Mutation_p.R92G|NLRX1_uc001pvx.2_Missense_Mutation_p.R92G	p.R92G	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	5	489	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	92			Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.274C>G	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835404	0.32421	.	.	ENSG00000160703	ENST00000454811;ENST00000449394;ENST00000422249;ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T;T;T;T	0.71341	1.34;1.34;1.35;-0.46;-0.46;-0.56;-0.46;-0.56	5.6	2.7	0.31948	.	0.000000	0.56097	D	0.000034	T	0.63686	0.2532	L	0.29908	0.895	0.34858	D	0.742311	D;P	0.57257	0.979;0.713	P;B	0.50537	0.643;0.217	T	0.65886	-0.6059	10	0.25106	T	0.35	.	11.5611	0.50776	0.3398:0.5512:0.1089:0.0	.	92;92	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	G	92	ENSP00000400268:R92G;ENSP00000402801:R92G;ENSP00000402381:R92G;ENSP00000386851:R92G;ENSP00000292199:R92G;ENSP00000386858:R92G;ENSP00000387334:R92G;ENSP00000433442:R92G	ENSP00000292199:R92G	R	+	1	2	NLRX1	118549442	1.000000	0.71417	0.952000	0.39060	0.870000	0.49936	2.405000	0.44548	0.051000	0.15978	-1.367000	0.01198	CGG		0.587	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1		NM_170722		16	38	0	0	0	0.004007	0	16	38		
NLRX1	79671	broad.mit.edu	37	11	119044292	119044292	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:119044292G>A	ENST00000409109.1	+	5	921	c.334G>A	c.(334-336)Gac>Aac	p.D112N	NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.D112N|NLRX1_ENST00000292199.2_Missense_Mutation_p.D112N|NLRX1_ENST00000409991.1_Missense_Mutation_p.D112N|NLRX1_ENST00000409265.4_Missense_Mutation_p.D112N	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	112	Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGTCCACGTTGACCCTGTGAT	0.672																																						uc001pvu.2		NaN																	0				ovary(1)|skin(1)	2						c.(334-336)GAC>AAC		NLR family member X1 isoform 1							60.0	59.0	59.0					11																	119044292		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119044292G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.334G>A	11.37:g.119044292G>A	ENSP00000387334:p.Asp112Asn					NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.2_Missense_Mutation_p.D112N|NLRX1_uc001pvw.2_Missense_Mutation_p.D112N|NLRX1_uc001pvx.2_Missense_Mutation_p.D112N	p.D112N	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	5	549	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	112			Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.334G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136398	0.77662	.	.	ENSG00000160703	ENST00000454811;ENST00000449394;ENST00000422249;ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T;T;T;T	0.75260	0.68;0.72;0.75;-0.82;-0.82;-0.92;-0.82;-0.92	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000004	T	0.80924	0.4717	L	0.32530	0.975	0.52501	D	0.999952	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.965	T	0.82116	-0.0616	10	0.62326	D	0.03	.	17.3764	0.87392	0.0:0.0:1.0:0.0	.	112;112	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	N	112	ENSP00000400268:D112N;ENSP00000402801:D112N;ENSP00000402381:D112N;ENSP00000386851:D112N;ENSP00000292199:D112N;ENSP00000386858:D112N;ENSP00000387334:D112N;ENSP00000433442:D112N	ENSP00000292199:D112N	D	+	1	0	NLRX1	118549502	1.000000	0.71417	0.974000	0.42286	0.442000	0.32017	9.321000	0.96353	2.637000	0.89404	0.561000	0.74099	GAC		0.672	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1		NM_170722		22	30	0	0	0	0.012319	0	22	30		
NLRX1	79671	broad.mit.edu	37	11	119050897	119050897	+	Missense_Mutation	SNP	G	G	A	rs190358411	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:119050897G>A	ENST00000409109.1	+	7	2754	c.2167G>A	c.(2167-2169)Gga>Aga	p.G723R	NLRX1_ENST00000525863.1_Missense_Mutation_p.G723R|NLRX1_ENST00000292199.2_Missense_Mutation_p.G723R|NLRX1_ENST00000409991.1_Missense_Mutation_p.G723R|NLRX1_ENST00000409265.4_Missense_Mutation_p.G723R	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	723	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGGGCAGCGGAAGGCATGC	0.637													G|||	2	0.000399361	0.0	0.0	5008	,	,		19186	0.002		0.0	False		,,,				2504	0.0					uc001pvu.2		NaN																	0				ovary(1)|skin(1)	2						c.(2167-2169)GGA>AGA		NLR family member X1 isoform 1							51.0	47.0	48.0					11																	119050897		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119050897G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2167G>A	11.37:g.119050897G>A	ENSP00000387334:p.Gly723Arg					NLRX1_uc010rzc.1_Missense_Mutation_p.G545R|NLRX1_uc001pvv.2_Missense_Mutation_p.G723R|NLRX1_uc001pvw.2_Missense_Mutation_p.G723R|NLRX1_uc001pvx.2_Missense_Mutation_p.G723R	p.G723R	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	2382	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	723			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.2167G>A	CCDS8416.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	10.79	1.448895	0.26074	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.17	3.29	0.37713	.	0.457306	0.21812	N	0.068755	T	0.38532	0.1044	N	0.24115	0.695	0.09310	N	1	D;D	0.69078	0.997;0.968	P;B	0.55615	0.78;0.353	T	0.14117	-1.0484	10	0.20046	T	0.44	.	3.6764	0.08294	0.3126:0.0:0.5176:0.1698	.	723;723	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	R	723	ENSP00000386851:G723R;ENSP00000292199:G723R;ENSP00000386858:G723R;ENSP00000387334:G723R;ENSP00000433442:G723R	ENSP00000292199:G723R	G	+	1	0	NLRX1	118556107	0.944000	0.32072	0.019000	0.16419	0.774000	0.43823	2.170000	0.42443	0.578000	0.29487	0.313000	0.20887	GGA		0.637	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1		NM_170722		13	24	0	0	0	0.00245	0	13	24		
MCAM	4162	broad.mit.edu	37	11	119181552	119181552	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:119181552G>A	ENST00000264036.4	-	14	1721	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	569					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCAGGACCAGGATGCACACAA	0.617																																						uc001pwf.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1705-1707)ATC>ATT		melanoma cell adhesion molecule							85.0	98.0	94.0					11																	119181552		2199	4295	6494	SO:0001819	synonymous_variant	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119181552G>A	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1707C>T	11.37:g.119181552G>A						MCAM_uc001pwg.1_RNA	p.I569I	NM_006500	NP_006491	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	14	1736	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	569			Helical; (Potential).		O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	ENST00000264036.4	37	c.1707C>T	CCDS31690.1																																																																																				0.617	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2				20	45	0	0	0	0.012319	0	20	45		
TECTA	7007	broad.mit.edu	37	11	120989420	120989420	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:120989420G>C	ENST00000392793.1	+	7	1467	c.1196G>C	c.(1195-1197)aGa>aCa	p.R399T	TECTA_ENST00000264037.2_Missense_Mutation_p.R399T			O75443	TECTA_HUMAN	tectorin alpha	399	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGCTATGGAAGAGTCAAGGTG	0.507																																						uc010rzo.1		NaN																	0				breast(6)|ovary(2)|skin(2)	10						c.(1195-1197)AGA>ACA		tectorin alpha precursor							55.0	58.0	57.0					11																	120989420		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989420G>C	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1196G>C	11.37:g.120989420G>C	ENSP00000376543:p.Arg399Thr						p.R399T	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	6	1196	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	399			VWFD 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1196G>C	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	8.149	0.787034	0.16189	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.58210	0.35;0.35	5.72	3.09	0.35607	von Willebrand factor, type D domain (3);	0.372961	0.27912	N	0.017350	T	0.25232	0.0613	N	0.02985	-0.445	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16453	-1.0402	10	0.19590	T	0.45	.	10.5098	0.44855	0.7851:0.0:0.2149:0.0	.	399	O75443	TECTA_HUMAN	T	399	ENSP00000376543:R399T;ENSP00000264037:R399T	ENSP00000264037:R399T	R	+	2	0	TECTA	120494630	1.000000	0.71417	0.978000	0.43139	0.941000	0.58515	1.994000	0.40757	0.450000	0.26774	-0.360000	0.07572	AGA		0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422		21	42	0	0	0	0.008871	0	21	42		
SC5D	6309	broad.mit.edu	37	11	121174160	121174160	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:121174160G>C	ENST00000392789.2	+	2	313	c.76G>C	c.(76-78)Gac>Cac	p.D26H	SC5D_ENST00000264027.4_Missense_Mutation_p.D26H|SC5D_ENST00000534230.1_Missense_Mutation_p.D26H	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	26					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										GCCAGAAGATGACATCTTCCG	0.383																																						uc001pxu.2		NaN																	0				ovary(1)	1						c.(76-78)GAC>CAC		sterol-C5-desaturase							187.0	174.0	179.0					11																	121174160		2203	4299	6502	SO:0001583	missense	6309				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity	g.chr11:121174160G>C		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.76G>C	11.37:g.121174160G>C	ENSP00000376539:p.Asp26His					SC5DL_uc001pxs.1_Missense_Mutation_p.D26H|SC5DL_uc001pxt.2_Missense_Mutation_p.D26H|SC5DL_uc001pxv.2_Missense_Mutation_p.D26H	p.D26H	NM_006918	NP_008849	O75845	SC5D_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	2	224	+		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	26					O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	c.76G>C	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444872	0.63178	.	.	ENSG00000109929	ENST00000264027;ENST00000527762;ENST00000534230;ENST00000392789	D;D;D;D	0.86230	-1.67;-1.66;-2.09;-1.67	6.16	1.47	0.22746	.	0.610482	0.19723	N	0.107526	D	0.83092	0.5179	L	0.47716	1.5	0.30105	N	0.807113	B;P;P	0.47604	0.003;0.883;0.898	B;B;P	0.45167	0.017;0.388;0.472	T	0.78435	-0.2205	10	0.54805	T	0.06	-0.339	9.4017	0.38437	0.3526:0.0:0.6474:0.0	.	26;26;26	O75845;E9PQ91;E9PPW5	SC5D_HUMAN;.;.	H	26	ENSP00000264027:D26H;ENSP00000436290:D26H;ENSP00000432550:D26H;ENSP00000376539:D26H	ENSP00000264027:D26H	D	+	1	0	SC5DL	120679370	0.996000	0.38824	0.780000	0.31762	0.983000	0.72400	2.334000	0.43920	0.006000	0.14734	0.650000	0.86243	GAC		0.383	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1		NM_001024956		30	56	0	0	0	0.010818	0	30	56		
SORL1	6653	broad.mit.edu	37	11	121460047	121460047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:121460047G>A	ENST00000260197.7	+	29	4155	c.4026G>A	c.(4024-4026)tgG>tgA	p.W1342*	SORL1_ENST00000532694.1_Nonsense_Mutation_p.W188*|SORL1_ENST00000525532.1_Nonsense_Mutation_p.W286*|SORL1_ENST00000534286.1_Nonsense_Mutation_p.W252*|SORL1_ENST00000527934.1_5'Flank	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1342	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTTTGATTTGGAAGTGCGACG	0.478																																						uc001pxx.2		NaN																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(4024-4026)TGG>TGA		sortilin-related receptor containing LDLR class							507.0	397.0	435.0					11																	121460047		2203	4299	6502	SO:0001587	stop_gained	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121460047G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4026G>A	11.37:g.121460047G>A	ENSP00000260197:p.Trp1342*					SORL1_uc010rzp.1_Nonsense_Mutation_p.W188*|SORL1_uc010rzq.1_5'Flank	p.W1342*	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	29	4106	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1342			Extracellular (Potential).|LDL-receptor class A 7.		B2RNX7|Q92856	Nonsense_Mutation	SNP	ENST00000260197.7	37	c.4026G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	37	6.332986	0.97480	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	.	.	.	X	1342;286;188;252	.	ENSP00000260197:W1342X	W	+	3	0	SORL1	120965257	1.000000	0.71417	0.978000	0.43139	0.673000	0.39480	9.869000	0.99810	2.783000	0.95769	0.655000	0.94253	TGG		0.478	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2		NM_003105		53	113	0	0	0	0.01441	0	53	113		
DCPS	28960	broad.mit.edu	37	11	126215464	126215464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:126215464G>A	ENST00000263579.4	+	6	1299	c.970G>A	c.(970-972)Gac>Aac	p.D324N	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	324					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CCTCAGGGCTGACGACCCCCT	0.607																																						uc001qdp.2		NaN																	0					0						c.(970-972)GAC>AAC		mRNA decapping enzyme							107.0	108.0	108.0					11																	126215464		2201	4298	6499	SO:0001583	missense	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126215464G>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.970G>A	11.37:g.126215464G>A	ENSP00000263579:p.Asp324Asn					uc001qdq.1_Intron	p.D324N	NM_014026	NP_054745	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	6	1299	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	324					Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	c.970G>A	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339599	0.41398	.	.	ENSG00000110063	ENST00000263579	T	0.39592	1.07	5.45	5.45	0.79879	Histidine triad-like motif (1);	0.093992	0.64402	D	0.000001	T	0.23054	0.0557	N	0.04705	-0.18	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16129	-1.0413	10	0.05721	T	0.95	-8.42	19.3516	0.94389	0.0:0.0:1.0:0.0	.	324	Q96C86	DCPS_HUMAN	N	324	ENSP00000263579:D324N	ENSP00000263579:D324N	D	+	1	0	DCPS	125720674	1.000000	0.71417	0.344000	0.25628	0.690000	0.40134	9.467000	0.97671	2.571000	0.86741	0.650000	0.86243	GAC		0.607	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1		NM_014026		30	81	0	0	0	0.013726	0	30	81		
KCNJ1	3758	broad.mit.edu	37	11	128709337	128709337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:128709337G>A	ENST00000392664.2	-	2	975	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F	KCNJ1_ENST00000324036.3_Missense_Mutation_p.L268F|KCNJ1_ENST00000440599.2_Missense_Mutation_p.L268F|KCNJ1_ENST00000392665.2_Missense_Mutation_p.L268F|KCNJ1_ENST00000392666.1_Missense_Mutation_p.L268F	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	287					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	TCCTGCTGGAGAAGGGTCTCC	0.483																																						uc001qeo.1		NaN																	0				ovary(3)|breast(1)	4						c.(859-861)CTC>TTC		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						70.0	68.0	68.0					11																	128709337		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709337G>A	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.859C>T	11.37:g.128709337G>A	ENSP00000376432:p.Leu287Phe					KCNJ1_uc001qep.1_Missense_Mutation_p.L268F|KCNJ1_uc001qeq.1_Missense_Mutation_p.L268F|KCNJ1_uc001qer.1_Missense_Mutation_p.L268F|KCNJ1_uc001qes.1_Missense_Mutation_p.L268F	p.L287F	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	910	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	287			Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.859C>T	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656702	0.29425	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	5.63	0.869	0.19096	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.811143	0.11980	N	0.510837	D	0.91260	0.7245	M	0.71206	2.165	0.09310	N	1	P	0.39071	0.658	B	0.38921	0.285	T	0.81970	-0.0689	10	0.56958	D	0.05	.	7.8284	0.29328	0.2291:0.0:0.6584:0.1125	.	287	P48048	IRK1_HUMAN	F	268;268;268;268;287	ENSP00000376433:L268F;ENSP00000376434:L268F;ENSP00000406320:L268F;ENSP00000316233:L268F;ENSP00000376432:L287F	ENSP00000316233:L268F	L	-	1	0	KCNJ1	128214547	0.132000	0.22450	0.079000	0.20413	0.933000	0.57130	2.344000	0.44010	-0.379000	0.07906	-1.357000	0.01221	CTC		0.483	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1		NM_000220		53	49	0	0	0	0.01441	0	53	49		
ARHGAP32	9743	broad.mit.edu	37	11	128936684	128936684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:128936684C>T	ENST00000310343.9	-	6	568	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R116Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	190	PX; atypical.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.R190Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGAAAATCTTCGGTCATAAAT	0.368																																						uc009zcp.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	lung(3)|ovary(2)	5						c.(568-570)CGA>CAA		Rho GTPase-activating protein isoform 1							85.0	81.0	82.0					11																	128936684		1566	3578	5144	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128936684C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.569G>A	11.37:g.128936684C>T	ENSP00000310561:p.Arg190Gln					ARHGAP32_uc009zcq.1_Missense_Mutation_p.R150Q|ARHGAP32_uc001qfb.2_5'UTR	p.R190Q	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			6	569	-			190			PX; atypical.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.569G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442344	0.96187	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000525234	T;T;T	0.30448	1.53;1.53;1.53	5.05	5.05	0.67936	Phox homologous domain (3);	.	.	.	.	T	0.61337	0.2339	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.961	T	0.67665	-0.5612	9	0.87932	D	0	.	17.3321	0.87268	0.0:1.0:0.0:0.0	.	124;190	Q86T64;A7KAX9	.;RHG32_HUMAN	Q	190;116;124;164	ENSP00000310561:R190Q;ENSP00000432468:R116Q;ENSP00000432303:R164Q	ENSP00000310561:R190Q	R	-	2	0	ARHGAP32	128441894	1.000000	0.71417	0.980000	0.43619	0.945000	0.59286	7.148000	0.77389	2.632000	0.89209	0.563000	0.77884	CGA		0.368	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3		NM_014715		20	28	0	0	0	0.007413	0	20	28		
ADAMTS8	11095	broad.mit.edu	37	11	130278816	130278816	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:130278816C>G	ENST00000257359.6	-	7	2476	c.1770G>C	c.(1768-1770)caG>caC	p.Q590H		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	590	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCTCACACTGCTGCTCCCTGA	0.547																																						uc001qgg.3		NaN																	0				central_nervous_system(1)	1						c.(1768-1770)CAG>CAC		ADAM metallopeptidase with thrombospondin type 1							82.0	80.0	81.0					11																	130278816		1920	4149	6069	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130278816C>G	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1770G>C	11.37:g.130278816C>G	ENSP00000257359:p.Gln590His					ADAMTS8_uc001qgf.2_Missense_Mutation_p.Q71H	p.Q590H	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	7	2128	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	590			Cys-rich.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1770G>C	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585495	0.66105	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.03553	3.89	5.29	4.38	0.52667	.	0.051451	0.85682	D	0.000000	T	0.12390	0.0301	L	0.60845	1.875	0.38545	D	0.949312	D;D	0.71674	0.998;0.99	D;P	0.65987	0.94;0.809	T	0.01341	-1.1380	10	0.72032	D	0.01	.	10.6549	0.45669	0.0:0.7967:0.0:0.2033	.	590;71	Q9UP79;B3KVX9	ATS8_HUMAN;.	H	590;619	ENSP00000257359:Q590H	ENSP00000257359:Q590H	Q	-	3	2	ADAMTS8	129784026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.854000	0.39368	1.376000	0.46267	0.655000	0.94253	CAG		0.547	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1		NM_007037		27	85	0	0	0	0.005443	0	27	85		
SNX19	399979	broad.mit.edu	37	11	130785628	130785628	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:130785628G>A	ENST00000265909.4	-	1	776	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Silent_p.L69L|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	69					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.L69L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCACTCCAGCGAGGCTGGAGC	0.602																																						uc001qgk.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|lung(2)	4						c.(205-207)CTC>CTT		sorting nexin 19							62.0	54.0	57.0					11																	130785628		2201	4297	6498	SO:0001819	synonymous_variant	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785628G>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.207C>T	11.37:g.130785628G>A						SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.L69L|SNX19_uc009zcx.1_Intron	p.L69L	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	755	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	69					E9PKB9|Q8IV55	Silent	SNP	ENST00000265909.4	37	c.207C>T	CCDS31721.1																																																																																				0.602	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1		NM_014758		14	30	0	0	0	0.004007	0	14	30		
JAM3	83700	broad.mit.edu	37	11	134014688	134014688	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:134014688G>A	ENST00000299106.4	+	5	570	c.411G>A	c.(409-411)gtG>gtA	p.V137V	JAM3_ENST00000441717.3_Splice_Site_p.V86V|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Splice_Site_p.V182V			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	137					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCCCCACAGTGAAGCCAGTGA	0.537																																						uc001qhb.1		NaN																	0				ovary(1)	1						c.(544-546)GTG>GTA		junctional adhesion molecule 3 precursor							78.0	81.0	80.0					11																	134014688		2201	4297	6498	SO:0001630	splice_region_variant	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134014688G>A	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.410-1G>A	11.37:g.134014688G>A						JAM3_uc009zcz.1_Silent_p.V131V	p.V182V	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	5	570	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	137			Extracellular (Potential).		B3KWG9|Q8WWL8|Q96FL1	Silent	SNP	ENST00000299106.4	37	c.546G>A	CCDS8494.2	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455741	0.26161	.	.	ENSG00000166086	ENST00000534549;ENST00000529443	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	T	0.74566	0.3733	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73997	-0.3806	4	.	.	.	.	18.5469	0.91050	0.0:0.0:1.0:0.0	.	.	.	.	K	82;91	.	.	E	+	1	0	JAM3	133519898	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	4.338000	0.59316	2.376000	0.81061	0.655000	0.94253	GAA		0.537	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4		NM_032801	Silent	19	48	0	0	0	0.008871	0	19	48		
GLB1L2	89944	broad.mit.edu	37	11	134214971	134214971	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:134214971C>A	ENST00000535456.2	+	4	585	c.397C>A	c.(397-399)Ctg>Atg	p.L133M	GLB1L2_ENST00000339772.7_Missense_Mutation_p.L133M|GLB1L2_ENST00000389881.3_Missense_Mutation_p.L133M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	133					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GTGGGTGATTCTGCGTCCAGG	0.637																																						uc001qhp.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(397-399)CTG>ATG		galactosidase, beta 1-like 2 precursor							100.0	90.0	94.0					11																	134214971		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134214971C>A		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.397C>A	11.37:g.134214971C>A	ENSP00000444628:p.Leu133Met					GLB1L2_uc009zdg.1_5'Flank	p.L133M	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	4	585	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	133					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.397C>A	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.56|18.56	3.649632|3.649632	0.67358|0.67358	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.98996|.	-5.31;-5.31;-5.31|.	5.41|5.41	3.55|3.55	0.40652|0.40652	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.087075|.	0.48286|.	D|.	0.000181|.	T|T	0.80854|0.80854	0.4703|0.4703	H|H	0.94462|0.94462	3.54|3.54	0.47476|0.47476	D|D	0.999438|0.999438	D|.	0.59767|.	0.986|.	D|.	0.64877|.	0.93|.	T|T	0.82428|0.82428	-0.0462|-0.0462	10|5	0.62326|.	D|.	0.03|.	-12.8565|-12.8565	9.2878|9.2878	0.37769|0.37769	0.0:0.7807:0.0:0.2193|0.0:0.7807:0.0:0.2193	.|.	133|.	Q8IW92|.	GLBL2_HUMAN|.	M|Y	133|71	ENSP00000344659:L133M;ENSP00000444628:L133M;ENSP00000374531:L133M|.	ENSP00000344659:L133M|.	L|S	+|+	1|2	2|0	GLB1L2|GLB1L2	133720181|133720181	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.993000|0.993000	0.82548|0.82548	1.370000|1.370000	0.34238|0.34238	0.650000|0.650000	0.30769|0.30769	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.637	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2		NM_138342		4	10	1	0	0.00909568	0.009096	0.00921888	4	10		
B4GALNT3	283358	broad.mit.edu	37	12	662717	662717	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:662717A>G	ENST00000266383.5	+	14	1641	c.1628A>G	c.(1627-1629)cAg>cGg	p.Q543R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	543					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AACCTGCCTCAGATGAGGGGG	0.617																																						uc001qii.1		NaN																	0				ovary(1)|skin(1)	2						c.(1627-1629)CAG>CGG		beta							37.0	41.0	39.0					12																	662717		2203	4298	6501	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662717A>G	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1628A>G	12.37:g.662717A>G	ENSP00000266383:p.Gln543Arg					B4GALNT3_uc001qij.1_Missense_Mutation_p.Q446R|B4GALNT3_uc001qik.1_Missense_Mutation_p.Q92R	p.Q543R	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1628	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		543			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1628A>G	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	A	0.352	-0.944345	0.02322	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.29142	3.6;1.58	5.01	-10.0	0.00425	.	62.624000	0.01224	N	0.008180	T	0.17577	0.0422	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19778	-1.0295	10	0.15952	T	0.53	6.1137	2.9367	0.05817	0.5476:0.0881:0.1775:0.1868	.	446;543	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	R	543;446	ENSP00000266383:Q543R;ENSP00000322953:Q446R	ENSP00000266383:Q543R	Q	+	2	0	B4GALNT3	532978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.979000	0.00321	-5.186000	0.00019	-0.803000	0.03203	CAG		0.617	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2		NM_173593		23	13	0	0	0	0.012319	0	23	13		
FOXM1	2305	broad.mit.edu	37	12	2968485	2968485	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:2968485C>T	ENST00000359843.3	-	9	1679	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	Y_RNA_ENST00000410561.1_RNA|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000342628.2_Silent_p.E575E|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000361953.3_Silent_p.E522E	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	537					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TCTCCCTCCTCTCCCTGTGTT	0.577																																						uc001qlf.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1609-1611)GAG>GAA		forkhead box M1 isoform 2							63.0	64.0	64.0					12																	2968485		2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968485C>T	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1611G>A	12.37:g.2968485C>T						uc001qld.2_Intron|FOXM1_uc001qle.2_Silent_p.E575E|FOXM1_uc001qlg.2_Silent_p.E522E|FOXM1_uc009zea.2_Silent_p.E522E|FOXM1_uc009zeb.2_Silent_p.E521E	p.E537E	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		9	1876	-			537					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.1611G>A	CCDS8515.1																																																																																				0.577	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1		NM_021953		30	49	0	0	0	0.012213	0	30	49		
ANO2	57101	broad.mit.edu	37	12	5936945	5936945	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:5936945G>C	ENST00000356134.5	-	8	944	c.873C>G	c.(871-873)aaC>aaG	p.N291K	ANO2_ENST00000327087.8_Missense_Mutation_p.N290K|ANO2_ENST00000546188.1_Missense_Mutation_p.N291K	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	295					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCATCGTGTTGTTGGCTCGGG	0.657																																						uc001qnm.2		NaN																	0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(868-870)AAC>AAG		anoctamin 2							31.0	37.0	35.0					12																	5936945		2013	4174	6187	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5936945G>C	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.873C>G	12.37:g.5936945G>C	ENSP00000348453:p.Asn291Lys						p.N290K	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			7	942	-			295			Cytoplasmic (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.870C>G		.	.	.	.	.	.	.	.	.	.	G	7.407	0.633977	0.14322	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.63580	-0.05;-0.05;-0.05	5.31	5.31	0.75309	.	0.220658	0.56097	D	0.000039	T	0.26448	0.0646	N	0.00500	-1.43	0.37426	D	0.913824	B	0.11235	0.004	B	0.11329	0.006	T	0.43686	-0.9376	10	0.02654	T	1	.	14.4646	0.67475	0.0:0.0:1.0:0.0	.	290	Q9NQ90-3	.	K	290;291;291;295	ENSP00000314048:N290K;ENSP00000348453:N291K;ENSP00000440981:N291K	ENSP00000314048:N290K	N	-	3	2	ANO2	5807206	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.916000	0.48813	2.500000	0.84329	0.561000	0.74099	AAC		0.657	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4		NM_020373		3	4	0	0	0	0.009096	0	3	4		
SCNN1A	6337	broad.mit.edu	37	12	6457910	6457910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:6457910C>T	ENST00000228916.2	-	12	1710	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	SCNN1A_ENST00000540037.1_Missense_Mutation_p.E238K|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.E560K|SCNN1A_ENST00000543768.1_Missense_Mutation_p.E561K|SCNN1A_ENST00000360168.3_Missense_Mutation_p.E597K	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	538					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GAGGGAGACTCAGAATTGGTT	0.522																																						uc001qnx.2		NaN																	0					0						c.(1612-1614)GAG>AAG		sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)						155.0	138.0	144.0					12																	6457910		2203	4300	6503	SO:0001583	missense	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457910C>T	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1612G>A	12.37:g.6457910C>T	ENSP00000228916:p.Glu538Lys					SCNN1A_uc001qnv.2_Missense_Mutation_p.E238K|SCNN1A_uc001qnw.2_Missense_Mutation_p.E597K|SCNN1A_uc010sfb.1_Missense_Mutation_p.E561K	p.E538K	NM_001038	NP_001029	P37088	SCNNA_HUMAN			12	1901	-			538			Extracellular (By similarity).		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.1612G>A	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002961	0.93287	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000003	D	0.83119	0.5185	M	0.91768	3.24	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87285	0.2295	10	0.87932	D	0	-30.6766	15.7833	0.78281	0.0:1.0:0.0:0.0	.	561;538;597	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	K	597;560;238;538;561	ENSP00000353292:E597K;ENSP00000351825:E560K;ENSP00000440876:E238K;ENSP00000228916:E538K;ENSP00000438739:E561K	ENSP00000228916:E538K	E	-	1	0	SCNN1A	6328171	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	5.399000	0.66314	2.331000	0.79229	0.591000	0.81541	GAG		0.522	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1				25	42	0	0	0	0.00278	0	25	42		
CD4	920	broad.mit.edu	37	12	6926360	6926360	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:6926360G>T	ENST00000011653.4	+	7	1278	c.1020G>T	c.(1018-1020)ctG>ctT	p.L340L		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	340	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AGCTGATGCTGAGTTTGAAAC	0.567																																						uc001qqv.1		NaN																	0					0						c.(1018-1020)CTG>CTT		CD4 antigen precursor							85.0	66.0	72.0					12																	6926360		2203	4300	6503	SO:0001819	synonymous_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6926360G>T	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1020G>T	12.37:g.6926360G>T						CD4_uc010sfj.1_Silent_p.L67L|CD4_uc009zfc.1_Silent_p.L161L|CD4_uc010sfk.1_Silent_p.L67L|CD4_uc010sfl.1_Silent_p.L67L|CD4_uc010sfm.1_Silent_p.L67L	p.L340L	NM_000616	NP_000607	P01730	CD4_HUMAN			7	1265	+		Myeloproliferative disorder(1001;0.0122)	340			Ig-like C2-type 3.|Extracellular (Potential).		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	ENST00000011653.4	37	c.1020G>T	CCDS8562.1																																																																																				0.567	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1		NM_000616		9	18	1	0	1.12685e-05	0.004482	1.1518e-05	9	18		
PHB2	11331	broad.mit.edu	37	12	7078670	7078670	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:7078670C>A	ENST00000535923.1	-	3	564	c.283G>T	c.(283-285)Ggc>Tgc	p.G95C	PHB2_ENST00000544134.1_5'UTR|EMG1_ENST00000261406.6_5'Flank|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000440277.1_Missense_Mutation_p.G95C|PHB2_ENST00000399433.2_Missense_Mutation_p.G95C|PHB2_ENST00000542912.1_Missense_Mutation_p.G95C	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						CCTTTGGAGCCTGTAGGGGAG	0.512																																						uc001qsd.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(283-285)GGC>TGC		prohibitin 2 isoform 1							131.0	130.0	130.0					12																	7078670		1897	4107	6004	SO:0001583	missense	11331				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity	g.chr12:7078670C>A	AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.283G>T	12.37:g.7078670C>A	ENSP00000441875:p.Gly95Cys					PHB2_uc010sft.1_Missense_Mutation_p.G95C|PHB2_uc010sfu.1_Missense_Mutation_p.G95C|EMG1_uc009zfo.2_5'Flank|EMG1_uc001qsh.3_5'Flank|EMG1_uc010sfv.1_5'Flank	p.G95C	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN			3	493	-			95						Missense_Mutation	SNP	ENST00000535923.1	37	c.283G>T	CCDS53741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.17|19.17	3.775546|3.775546	0.70107|0.70107	.|.	.|.	ENSG00000215021|ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167|ENST00000544134	D;D;D;D;D|T	0.94537|0.37915	-3.45;-3.45;-3.45;-3.45;-3.45|1.17	5.15|5.15	4.27|4.27	0.50696|0.50696	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.72358|0.72358	0.3450|0.3450	H|H	0.97240|0.97240	3.965|3.965	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.997;0.998|.	D;D;D|.	0.87578|.	0.998;0.987;0.995|.	T|T	0.82408|0.82408	-0.0472|-0.0472	10|7	0.87932|0.62326	D|D	0|0.03	-15.9135|-15.9135	13.7582|13.7582	0.62950|0.62950	0.0:0.9265:0.0:0.0735|0.0:0.9265:0.0:0.0735	.|.	95;95;95|.	B4DW05;B4DP75;Q99623|.	.;.;PHB2_HUMAN|.	C|H	95;95;95;95;131|132	ENSP00000441875:G95C;ENSP00000440317:G95C;ENSP00000382362:G95C;ENSP00000412856:G95C;ENSP00000441662:G131C|ENSP00000445972:Q132H	ENSP00000382362:G95C|ENSP00000445972:Q132H	G|Q	-|-	1|3	0|2	PHB2|PHB2	6948931|6948931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.548000|0.548000	0.35241|0.35241	7.229000|7.229000	0.78088|0.78088	1.410000|1.410000	0.46936|0.46936	-0.251000|-0.251000	0.11542|0.11542	GGC|CAG		0.512	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3		NM_007273		19	48	1	0	1.9806e-07	0.014323	2.04176e-07	19	48		
A2ML1	144568	broad.mit.edu	37	12	8988871	8988871	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:8988871G>A	ENST00000299698.7	+	7	844	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTTTAAGGTGGAAGTGGTGGA	0.448																																						uc001quz.3		NaN																	0				ovary(2)|skin(1)	3						c.(664-666)GAA>AAA		alpha-2-macroglobulin-like 1 precursor							130.0	123.0	125.0					12																	8988871		1916	4125	6041	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8988871G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.664G>A	12.37:g.8988871G>A	ENSP00000299698:p.Glu222Lys						p.E222K	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			7	762	+			66						Missense_Mutation	SNP	ENST00000299698.7	37	c.664G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	5.781	0.328398	0.10956	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.27890	1.64	3.49	3.49	0.39957	.	0.162443	0.29205	N	0.012824	T	0.11922	0.0290	N	0.05414	-0.055	0.80722	D	1	B	0.12013	0.005	B	0.15052	0.012	T	0.13282	-1.0515	10	0.07325	T	0.83	.	6.8762	0.24149	0.1241:0.0:0.8759:0.0	.	222	A8K2U0	A2ML1_HUMAN	K	222	ENSP00000299698:E222K	ENSP00000299698:E222K	E	+	1	0	A2ML1	8880138	0.993000	0.37304	0.979000	0.43373	0.996000	0.88848	1.060000	0.30530	2.259000	0.74868	0.561000	0.74099	GAA		0.448	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3		NM_144670		10	30	0	0	0	0.010729	0	10	30		
CDKN1B	1027	broad.mit.edu	37	12	12871770	12871770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:12871770C>T	ENST00000228872.4	+	2	1203	c.487C>T	c.(487-489)Caa>Taa	p.Q163*	CDKN1B_ENST00000396340.1_Intron|CDKN1B_ENST00000477087.1_3'UTR	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	163					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TTCTTCTACTCAAAACAAAAG	0.448																																						uc001rat.2		NaN																	0				ovary(1)|lung(1)	2						c.(487-489)CAA>TAA		cyclin-dependent kinase inhibitor 1B							75.0	89.0	84.0					12																	12871770		2203	4300	6503	SO:0001587	stop_gained	1027	Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4			autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871770C>T	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.487C>T	12.37:g.12871770C>T	ENSP00000228872:p.Gln163*						p.Q163*	NM_004064	NP_004055	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	2	959	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	163			Nuclear localization signal (Potential).		Q16307|Q5U0H2|Q9BUS6	Nonsense_Mutation	SNP	ENST00000228872.4	37	c.487C>T	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	C	44	10.639916	0.99442	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000442489	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	16.43	0.83839	0.0:1.0:0.0:0.0	.	.	.	.	X	163;112;69	.	ENSP00000228872:Q163X	Q	+	1	0	CDKN1B	12763037	1.000000	0.71417	0.994000	0.49952	0.924000	0.55760	5.451000	0.66632	2.306000	0.77630	0.655000	0.94253	CAA		0.448	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2		NM_004064		72	33	0	0	0	0.01441	0	72	33		
SLCO1C1	53919	broad.mit.edu	37	12	20864431	20864431	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:20864431C>A	ENST00000266509.2	+	5	884	c.516C>A	c.(514-516)tcC>tcA	p.S172S	SLCO1C1_ENST00000545604.1_Silent_p.S172S|SLCO1C1_ENST00000381552.1_Silent_p.S172S|SLCO1C1_ENST00000545102.1_Silent_p.S54S|SLCO1C1_ENST00000540354.1_Silent_p.S172S	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	172					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AATCAAAATCCAAAATAAGTA	0.343																																						uc001rej.3		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(514-516)TCC>TCA		solute carrier organic anion transporter family,							98.0	98.0	98.0					12																	20864431		2203	4300	6503	SO:0001819	synonymous_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20864431C>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.516C>A	12.37:g.20864431C>A						SLCO1C1_uc010sii.1_Silent_p.S172S|SLCO1C1_uc010sij.1_Silent_p.S172S|SLCO1C1_uc009zip.2_Silent_p.S6S|SLCO1C1_uc001rei.2_Silent_p.S172S|SLCO1C1_uc010sik.1_Silent_p.S54S	p.S172S	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			6	871	+	Esophageal squamous(101;0.149)		172			Extracellular (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.516C>A	CCDS8683.1																																																																																				0.343	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1		NM_017435		23	39	1	0	2.32416e-17	0.014323	2.45064e-17	23	39		
BHLHE41	79365	broad.mit.edu	37	12	26277470	26277470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:26277470C>T	ENST00000242728.4	-	2	455	c.108G>A	c.(106-108)atG>atA	p.M36I	RP11-283G6.3_ENST00000535914.1_RNA|RP11-283G6.3_ENST00000545819.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	36					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						CGTCTCGTTTCATGCTCCTTT	0.478																																						uc001rhb.2		NaN																	0					0						c.(106-108)ATG>ATA		basic helix-loop-helix domain containing, class							214.0	196.0	202.0					12																	26277470		2203	4300	6503	SO:0001583	missense	79365				cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:26277470C>T	AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.108G>A	12.37:g.26277470C>T	ENSP00000242728:p.Met36Ile						p.M36I	NM_030762	NP_110389	Q9C0J9	BHE41_HUMAN			2	399	-			36					A2I2N8	Missense_Mutation	SNP	ENST00000242728.4	37	c.108G>A	CCDS8706.1	.	.	.	.	.	.	.	.	.	.	C	4.037	0.004513	0.07866	.	.	ENSG00000123095	ENST00000242728;ENST00000540731	T	0.53857	0.6	4.2	4.2	0.49525	.	0.731043	0.11899	U	0.518868	T	0.35189	0.0923	N	0.12182	0.205	0.80722	D	1	B	0.19817	0.039	B	0.20384	0.029	T	0.09292	-1.0681	10	0.18710	T	0.47	-0.8539	13.7706	0.63021	0.0:1.0:0.0:0.0	.	36	Q9C0J9	BHE41_HUMAN	I	36	ENSP00000242728:M36I	ENSP00000242728:M36I	M	-	3	0	BHLHE41	26168737	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.912000	0.39946	2.338000	0.79540	0.561000	0.74099	ATG		0.478	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1		NM_030762		35	19	0	0	0	0.003755	0	35	19		
ITPR2	3709	broad.mit.edu	37	12	26943129	26943129	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:26943129C>T	ENST00000381340.3	-	2	540	c.124G>A	c.(124-126)Gag>Aag	p.E42K	ITPR2_ENST00000242737.5_Missense_Mutation_p.E42K	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	42					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCCCCGGCCTCTGGGTGCACC	0.408																																						uc001rhg.2		NaN																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(124-126)GAG>AAG		inositol 1,4,5-triphosphate receptor, type 2							100.0	98.0	98.0					12																	26943129		1913	4147	6060	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26943129C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.124G>A	12.37:g.26943129C>T	ENSP00000370744:p.Glu42Lys					ITPR2_uc001rhh.1_Intron|ITPR2_uc001rhi.1_Missense_Mutation_p.E42K	p.E42K	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			2	541	-	Colorectal(261;0.0847)		42			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.124G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515680	0.44763	.	.	ENSG00000123104	ENST00000381340;ENST00000242737	D;D	0.98135	-4.74;-4.74	4.95	3.98	0.46160	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.158450	0.56097	D	0.000032	D	0.95322	0.8482	M	0.62723	1.935	0.43214	D	0.995084	B;B	0.28055	0.199;0.037	B;B	0.27380	0.079;0.018	D	0.92217	0.5781	10	0.09843	T	0.71	.	12.6334	0.56669	0.0:0.8323:0.1677:0.0	.	42;42	Q14571-2;Q14571	.;ITPR2_HUMAN	K	42	ENSP00000370744:E42K;ENSP00000242737:E42K	ENSP00000242737:E42K	E	-	1	0	ITPR2	26834396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.866000	0.63005	2.668000	0.90789	0.563000	0.77884	GAG		0.408	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223		13	34	0	0	0	0.00245	0	13	34		
DDX11	1663	broad.mit.edu	37	12	31240903	31240903	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:31240903G>A	ENST00000407793.2	+	6	921	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	DDX11_ENST00000228264.6_Missense_Mutation_p.E198K|DDX11_ENST00000542838.1_Missense_Mutation_p.E224K|DDX11_ENST00000350437.4_Missense_Mutation_p.E224K|DDX11_ENST00000545668.1_Missense_Mutation_p.E224K|DDX11_ENST00000251758.5_Silent_p.K286K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	224	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCTGGAGGAAGAACACATAAC	0.532										Multiple Myeloma(12;0.14)																												uc001rjt.1		NaN																	0				breast(3)	3						c.(670-672)GAA>AAA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							191.0	161.0	171.0					12																	31240903		2203	4300	6503	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31240903G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.670G>A	12.37:g.31240903G>A	ENSP00000384703:p.Glu224Lys	Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_Missense_Mutation_p.E224K|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.E224K|DDX11_uc001rjs.1_Missense_Mutation_p.E224K|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.E224K|DDX11_uc001rjw.1_Missense_Mutation_p.E198K|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_5'Flank	p.E224K	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			6	921	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		224			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.670G>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277843	0.59758	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	D;T;T;T;T;T;T	0.81659	-1.52;-0.68;-1.41;0.21;0.75;-0.68;-1.21	3.32	3.32	0.38043	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.104382	0.64402	D	0.000005	D	0.84964	0.5589	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.998	T	0.82080	-0.0634	10	0.26408	T	0.33	.	10.3884	0.44154	0.0:0.0:1.0:0.0	.	224;224;224;224	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	K	224;224;198;195;198;224;224	ENSP00000443426:E224K;ENSP00000384703:E224K;ENSP00000228264:E198K;ENSP00000407646:E195K;ENSP00000406457:E198K;ENSP00000440402:E224K;ENSP00000309965:E224K	ENSP00000228264:E198K	E	+	1	0	DDX11	31132170	1.000000	0.71417	0.698000	0.30274	0.672000	0.39443	6.053000	0.71089	1.864000	0.54056	0.505000	0.49811	GAA		0.532	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1		NM_030653		5	11	0	0	0	0.000602	0	5	11		
SYT10	341359	broad.mit.edu	37	12	33592424	33592424	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:33592424G>A	ENST00000228567.3	-	1	330	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	12					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTCTGGCACAGACTGTTCACT	0.552																																						uc001rll.1		NaN																	0				ovary(1)|skin(1)	2						c.(34-36)CTG>TTG		synaptotagmin X							258.0	234.0	242.0					12																	33592424		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33592424G>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.34C>T	12.37:g.33592424G>A						SYT10_uc009zju.1_5'UTR	p.L12L	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			1	331	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		12			Vesicular (Potential).		Q495U2	Silent	SNP	ENST00000228567.3	37	c.34C>T	CCDS8732.1																																																																																				0.552	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1		NM_198992		44	100	0	0	0	0.01441	0	44	100		
ABCD2	225	broad.mit.edu	37	12	39947845	39947845	+	Missense_Mutation	SNP	C	C	T	rs202117269		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:39947845C>T	ENST00000308666.3	-	10	2227	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	698	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGTTTTTCTTCACTCAATGTC	0.383																																						uc001rmb.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(2092-2094)GAA>AAA		ATP-binding cassette, sub-family D, member 2							102.0	99.0	100.0					12																	39947845		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39947845C>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.2092G>A	12.37:g.39947845C>T	ENSP00000310688:p.Glu698Lys						p.E698K	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			10	2518	-			698			ABC transporter.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.2092G>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334066	0.81801	.	.	ENSG00000173208	ENST00000308666	D	0.94576	-3.46	5.1	5.1	0.69264	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.93377	0.7888	M	0.73372	2.23	0.80722	D	1	P	0.38167	0.621	B	0.34590	0.186	D	0.92866	0.6310	9	.	.	.	-15.2361	18.857	0.92257	0.0:1.0:0.0:0.0	.	698	Q9UBJ2	ABCD2_HUMAN	K	698	ENSP00000310688:E698K	.	E	-	1	0	ABCD2	38234112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.713000	0.84693	2.528000	0.85240	0.655000	0.94253	GAA		0.383	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1		NM_005164		32	15	0	0	0	0.009535	0	32	15		
LRRK2	120892	broad.mit.edu	37	12	40749951	40749951	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:40749951G>A	ENST00000298910.7	+	46	6863	c.6805G>A	c.(6805-6807)Gat>Aat	p.D2269N		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2269					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGGAACCGCTGATGGCAAGTT	0.274																																						uc001rmg.3		NaN																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(6805-6807)GAT>AAT		leucine-rich repeat kinase 2							52.0	52.0	52.0					12																	40749951		2202	4295	6497	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40749951G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6805G>A	12.37:g.40749951G>A	ENSP00000298910:p.Asp2269Asn					LRRK2_uc009zjw.2_Missense_Mutation_p.D1107N|LRRK2_uc001rmi.2_Missense_Mutation_p.D1102N	p.D2269N	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			46	6926	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2269					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6805G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768377	0.49680	.	.	ENSG00000188906	ENST00000298910	T	0.56941	0.43	5.87	3.99	0.46301	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.132651	0.64402	D	0.000002	T	0.33235	0.0856	N	0.25380	0.74	0.38483	D	0.947762	B;B	0.26318	0.146;0.146	B;B	0.23716	0.048;0.048	T	0.15578	-1.0432	10	0.17832	T	0.49	.	6.76	0.23536	0.196:0.1318:0.6723:0.0	.	2269;2269	Q17RV3;Q5S007	.;LRRK2_HUMAN	N	2269	ENSP00000298910:D2269N	ENSP00000298910:D2269N	D	+	1	0	LRRK2	39036218	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.764000	0.47613	1.444000	0.47605	0.655000	0.94253	GAT		0.274	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513		7	14	0	0	0	0.001984	0	7	14		
ANO6	196527	broad.mit.edu	37	12	45781986	45781986	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:45781986T>C	ENST00000320560.8	+	11	1410	c.1208T>C	c.(1207-1209)cTt>cCt	p.L403P	ANO6_ENST00000423947.3_Missense_Mutation_p.L424P|ANO6_ENST00000425752.2_Missense_Mutation_p.L403P|ANO6_ENST00000435642.1_Missense_Mutation_p.L403P|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.L385P	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	403					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAGGCAGAACTTGAGTATGAA	0.423																																						uc001roo.2		NaN																	0				ovary(1)|kidney(1)	2						c.(1207-1209)CTT>CCT		anoctamin 6 isoform a							207.0	189.0	195.0					12																	45781986		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45781986T>C	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1208T>C	12.37:g.45781986T>C	ENSP00000320087:p.Leu403Pro					ANO6_uc010sld.1_Missense_Mutation_p.L403P|ANO6_uc010sle.1_Missense_Mutation_p.L403P|ANO6_uc010slf.1_Missense_Mutation_p.L424P|ANO6_uc010slg.1_Missense_Mutation_p.L385P	p.L403P	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			11	1543	+			403			Cytoplasmic (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.1208T>C	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.363011	0.61403	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	4.6	4.6	0.57074	.	0.074057	0.56097	D	0.000033	D	0.86814	0.6023	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.999;0.997;0.999;0.986	D	0.90054	0.4151	10	0.87932	D	0	.	14.7328	0.69393	0.0:0.0:0.0:1.0	.	385;424;403;403	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	P	403;424;403;403;385	ENSP00000391417:L403P;ENSP00000409126:L424P;ENSP00000413840:L403P;ENSP00000320087:L403P;ENSP00000413137:L385P	ENSP00000320087:L403P	L	+	2	0	ANO6	44068253	1.000000	0.71417	0.166000	0.22797	0.494000	0.33585	7.655000	0.83696	2.017000	0.59298	0.533000	0.62120	CTT		0.423	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1		XM_113743		76	135	0	0	0	0.01441	0	76	135		
SLC38A1	81539	broad.mit.edu	37	12	46582754	46582754	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:46582754C>T	ENST00000398637.5	-	17	2157	c.1463G>A	c.(1462-1464)tGa>tAa	p.*488*	SLC38A1_ENST00000546893.1_Silent_p.*488*|SLC38A1_ENST00000439706.1_Silent_p.*488*|SLC38A1_ENST00000549049.1_Silent_p.*488*	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	0					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CGGCGGGTTTCAGTGGCCTTC	0.507																																						uc001rpa.2		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1462-1464)TGA>TAA		amino acid transporter system A1							80.0	82.0	81.0					12																	46582754		2007	4208	6215	SO:0001819	synonymous_variant	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46582754C>T	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1463G>A	12.37:g.46582754C>T						SLC38A1_uc001rpb.2_Silent_p.*488*|SLC38A1_uc001rpc.2_Silent_p.*488*|SLC38A1_uc001rpd.2_Silent_p.*488*|SLC38A1_uc001rpe.2_Silent_p.*488*	p.*488*	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		17	1721	-	Lung SC(27;0.137)|Renal(347;0.236)		488					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	ENST00000398637.5	37	c.1463G>A	CCDS41774.1																																																																																				0.507	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2				17	65	0	0	0	0.008871	0	17	65		
DDN	23109	broad.mit.edu	37	12	49391911	49391911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:49391911G>A	ENST00000421952.2	-	2	769	c.748C>T	c.(748-750)Cag>Tag	p.Q250*	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	250						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GTGGGCACCTGAGAGTTCCCG	0.657																																						uc001rsv.1		NaN																	0				large_intestine(1)	1						c.(748-750)CAG>TAG		dendrin							38.0	44.0	42.0					12																	49391911		2203	4299	6502	SO:0001587	stop_gained	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391911G>A	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.748C>T	12.37:g.49391911G>A	ENSP00000390590:p.Gln250*					uc001rsw.2_5'Flank	p.Q250*	NM_015086	NP_055901	O94850	DEND_HUMAN			2	766	-			250						Nonsense_Mutation	SNP	ENST00000421952.2	37	c.748C>T	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372450	0.24857	.	.	ENSG00000181418	ENST00000421952	.	.	.	3.89	3.89	0.44902	.	0.747014	0.11538	N	0.554040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0254	11.6603	0.51343	0.0:0.0:1.0:0.0	.	.	.	.	X	250	.	ENSP00000390590:Q250X	Q	-	1	0	DDN	47678178	0.020000	0.18652	0.008000	0.14137	0.008000	0.06430	2.088000	0.41663	2.476000	0.83614	0.561000	0.74099	CAG		0.657	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1				14	69	0	0	0	0.001855	0	14	69		
KMT2D	8085	broad.mit.edu	37	12	49434778	49434778	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:49434778C>T	ENST00000301067.7	-	31	6774	c.6775G>A	c.(6775-6777)Gag>Aag	p.E2259K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2259	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCAGGGCTCTCAGGCACAGCC	0.632																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(6775-6777)GAG>AAG		myeloid/lymphoid or mixed-lineage leukemia 2							39.0	44.0	43.0					12																	49434778		1906	4115	6021	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49434778C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6775G>A	12.37:g.49434778C>T	ENSP00000301067:p.Glu2259Lys	HNSCC(34;0.089)					p.E2259K	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	6775	-			2259			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6775G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.937148	0.34189	.	.	ENSG00000167548	ENST00000301067	T	0.81078	-1.45	5.07	5.07	0.68467	.	0.000000	0.39020	N	0.001494	T	0.67306	0.2879	N	0.14661	0.345	0.30755	N	0.74475	P	0.39782	0.688	B	0.33750	0.169	T	0.74343	-0.3696	10	0.87932	D	0	.	17.611	0.88053	0.0:1.0:0.0:0.0	.	2259	O14686	MLL2_HUMAN	K	2259	ENSP00000301067:E2259K	ENSP00000301067:E2259K	E	-	1	0	MLL2	47721045	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.488000	0.81441	2.536000	0.85505	0.655000	0.94253	GAG		0.632	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				16	34	0	0	0	0.008871	0	16	34		
KMT2D	8085	broad.mit.edu	37	12	49445264	49445264	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:49445264G>C	ENST00000301067.7	-	10	2201	c.2202C>G	c.(2200-2202)ctC>ctG	p.L734L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	734	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACCGGGGGCAGAGTTGCGGCT	0.692																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(2200-2202)CTC>CTG		myeloid/lymphoid or mixed-lineage leukemia 2							30.0	35.0	33.0					12																	49445264		1912	4056	5968	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49445264G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2202C>G	12.37:g.49445264G>C		HNSCC(34;0.089)					p.L734L	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	2202	-			734	Missing (in Ref. 1; AAC51734).		Pro-rich.		O14687	Silent	SNP	ENST00000301067.7	37	c.2202C>G	CCDS44873.1																																																																																				0.692	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				4	23	0	0	0	0.008291	0	4	23		
PRPH	5630	broad.mit.edu	37	12	49689233	49689233	+	Missense_Mutation	SNP	G	G	A	rs373110647		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:49689233G>A	ENST00000257860.4	+	1	1749	c.250G>A	c.(250-252)Gag>Aag	p.E84K	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CTCCATGGCCGAGGCCCTCAA	0.682																																						uc001rtu.2		NaN																	0					0						c.(250-252)GAG>AAG		peripherin							12.0	12.0	12.0					12																	49689233		2192	4292	6484	SO:0001583	missense	5630						structural molecule activity	g.chr12:49689233G>A		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.250G>A	12.37:g.49689233G>A	ENSP00000257860:p.Glu84Lys						p.E84K	NM_006262	NP_006253	P41219	PERI_HUMAN			1	325	+			84			Head.		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	37	c.250G>A	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	G	36	5.851021	0.97023	.	.	ENSG00000135406	ENST00000257860;ENST00000451891	D	0.83419	-1.72	4.61	4.61	0.57282	Intermediate filament head, DNA-binding domain (1);	0.000000	0.40222	N	0.001158	D	0.84338	0.5450	L	0.55481	1.735	0.80722	D	1	D	0.52996	0.957	P	0.52856	0.711	T	0.81984	-0.0682	10	0.25106	T	0.35	.	14.9871	0.71356	0.0:0.0:1.0:0.0	.	84	P41219	PERI_HUMAN	K	84;3	ENSP00000257860:E84K	ENSP00000257860:E84K	E	+	1	0	PRPH	47975500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.795000	0.85887	2.406000	0.81754	0.563000	0.77884	GAG		0.682	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1		NM_006262		6	7	0	0	0	0.001168	0	6	7		
PRPF40B	25766	broad.mit.edu	37	12	50036100	50036100	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:50036100G>A	ENST00000380281.1	+	19	1965	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R656Q|PRPF40B_ENST00000261897.1_Missense_Mutation_p.R621Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	634	FF 6.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCTGCCTTTCGAAGCATGCTG	0.642																																						uc001rur.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(1900-1902)CGA>CAA		Huntingtin interacting protein C isoform 1							89.0	81.0	84.0					12																	50036100		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50036100G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1901G>A	12.37:g.50036100G>A	ENSP00000369634:p.Arg634Gln					FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.R656Q|PRPF40B_uc001ruq.1_Missense_Mutation_p.R621Q|PRPF40B_uc001rus.1_Missense_Mutation_p.R577Q|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	p.R634Q	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			19	1965	+			634					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1901G>A		.	.	.	.	.	.	.	.	.	.	G	17.11	3.306287	0.60305	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.27557	1.66;1.67	4.76	3.87	0.44632	FF domain (3);	0.487696	0.17943	N	0.156782	T	0.40570	0.1122	L	0.46157	1.445	0.80722	D	1	D;D;D	0.63880	0.989;0.993;0.993	P;P;P	0.61275	0.772;0.886;0.886	T	0.24225	-1.0166	10	0.62326	D	0.03	-5.0202	6.547	0.22412	0.2736:0.0:0.7264:0.0	.	634;621;634	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	Q	621;634	ENSP00000261897:R621Q;ENSP00000369634:R634Q	ENSP00000261897:R621Q	R	+	2	0	PRPF40B	48322367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.669000	0.61575	1.373000	0.46208	0.655000	0.94253	CGA		0.642	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1		NM_012272		45	55	0	0	0	0.01441	0	45	55		
PRPF40B	25766	broad.mit.edu	37	12	50037941	50037941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:50037941G>A	ENST00000380281.1	+	25	2646	c.2582G>A	c.(2581-2583)cGg>cAg	p.R861Q	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R882Q|PRPF40B_ENST00000261897.1_Missense_Mutation_p.R848Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	861					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGGCGGCGGCGGACACTCCTA	0.597											OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rur.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(2581-2583)CGG>CAG		Huntingtin interacting protein C isoform 1							135.0	105.0	115.0					12																	50037941		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50037941G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2582G>A	12.37:g.50037941G>A	ENSP00000369634:p.Arg861Gln		OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001ruq.1_Missense_Mutation_p.R848Q|PRPF40B_uc001rus.1_Missense_Mutation_p.R803Q|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	p.R861Q	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			25	2646	+			861					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.2582G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.083594	0.94050	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.25912	1.78;1.77	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000011	T	0.40815	0.1132	L	0.52011	1.625	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.59761	0.733;0.863	T	0.05321	-1.0892	10	0.32370	T	0.25	-13.538	16.9795	0.86323	0.0:0.0:1.0:0.0	.	861;848	Q6NWY9;Q6NWY9-2	PR40B_HUMAN;.	Q	848;861	ENSP00000261897:R848Q;ENSP00000369634:R861Q	ENSP00000261897:R848Q	R	+	2	0	PRPF40B	48324208	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.973000	0.93428	2.611000	0.88343	0.561000	0.74099	CGG		0.597	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1		NM_012272		4	29	0	0	0	0.00308	0	4	29		
DIP2B	57609	broad.mit.edu	37	12	51130885	51130885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:51130885C>G	ENST00000301180.5	+	35	4202	c.4168C>G	c.(4168-4170)Ctt>Gtt	p.L1390V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1390						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AGACTCTCACCTTGGAGAGGT	0.358																																						uc001rwv.2		NaN																	0				ovary(4)|breast(1)|pancreas(1)	6						c.(4168-4170)CTT>GTT		DIP2 disco-interacting protein 2 homolog B							130.0	131.0	131.0					12																	51130885		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51130885C>G	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4168C>G	12.37:g.51130885C>G	ENSP00000301180:p.Leu1390Val					DIP2B_uc009zlt.2_Missense_Mutation_p.L820V	p.L1390V	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			35	4324	+			1390					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.4168C>G	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500736	0.64298	.	.	ENSG00000066084	ENST00000301180	T	0.37584	1.19	5.12	4.23	0.50019	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.27536	-1.0071	10	0.05436	T	0.98	-12.3145	13.5793	0.61893	0.0:0.9253:0.0:0.0747	.	1390	Q9P265	DIP2B_HUMAN	V	1390	ENSP00000301180:L1390V	ENSP00000301180:L1390V	L	+	1	0	DIP2B	49417152	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.764000	0.62264	1.380000	0.46344	0.555000	0.69702	CTT		0.358	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602		37	143	0	0	0	0.00623	0	37	143		
LETMD1	25875	broad.mit.edu	37	12	51450271	51450271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:51450271C>T	ENST00000262055.4	+	7	940	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	LETMD1_ENST00000552739.1_Nonsense_Mutation_p.Q184*|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000418425.2_Nonsense_Mutation_p.Q314*|LETMD1_ENST00000547008.1_Nonsense_Mutation_p.Q177*|LETMD1_ENST00000550929.1_Nonsense_Mutation_p.Q245*|LETMD1_ENST00000380123.2_3'UTR	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	301	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GCTGACTGCTCAGGAAGTAAA	0.507																																						uc001rxm.2		NaN																	0				central_nervous_system(2)	2						c.(901-903)CAG>TAG		LETM1 domain containing 1 isoform 1							87.0	83.0	84.0					12																	51450271		2203	4300	6503	SO:0001587	stop_gained	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51450271C>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.901C>T	12.37:g.51450271C>T	ENSP00000262055:p.Gln301*					LETMD1_uc010smz.1_Nonsense_Mutation_p.Q251*|LETMD1_uc010sna.1_Missense_Mutation_p.S138L|LETMD1_uc001rxl.2_Nonsense_Mutation_p.Q245*|LETMD1_uc009zlv.2_RNA|LETMD1_uc001rxs.2_Missense_Mutation_p.S138L|LETMD1_uc009zlw.2_Nonsense_Mutation_p.Q314*|LETMD1_uc001rxn.2_Nonsense_Mutation_p.Q144*|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Nonsense_Mutation_p.Q184*|LETMD1_uc001rxq.2_Nonsense_Mutation_p.Q177*|LETMD1_uc001rxr.2_RNA|LETMD1_uc001rxt.2_Nonsense_Mutation_p.Q41*	p.Q301*	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN			7	957	+			301			Mitochondrial intermembrane (Potential).|LETM1.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Nonsense_Mutation	SNP	ENST00000262055.4	37	c.901C>T	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.389385|5.389385	0.95988|0.95988	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000551477;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000548251;ENST00000550814;ENST00000547660;ENST00000418425;ENST00000547008;ENST00000552739;ENST00000547256|ENST00000553043	.|.	.|.	.|.	5.49|5.49	4.6|4.6	0.57074|0.57074	.|.	0.404895|.	0.27841|.	N|.	0.017628|.	.|T	.|0.49389	.|0.1554	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B	.|0.36535	.|0.557;0.253	.|B;B	.|0.31101	.|0.124;0.087	.|T	.|0.56013	.|-0.8049	.|7	0.07030|0.87932	T|D	0.85|0	-7.7487|-7.7487	14.2872|14.2872	0.66254|0.66254	0.0:0.5959:0.4041:0.0|0.0:0.5959:0.4041:0.0	.|.	.|138;138	.|B7Z9A7;F8W6J0	.|.;.	X|L	268;245;301;251;184;109;56;314;177;184;83|69	.|.	ENSP00000262055:Q301X|ENSP00000369478:S138L	Q|S	+|+	1|2	0|0	LETMD1|LETMD1	49736538|49736538	0.937000|0.937000	0.31787|0.31787	0.961000|0.961000	0.40146|0.40146	0.949000|0.949000	0.60115|0.60115	1.618000|1.618000	0.36954|0.36954	1.465000|1.465000	0.48006|0.48006	-0.150000|-0.150000	0.13652|0.13652	CAG|TCA		0.507	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1		NM_015416		29	81	0	0	0	0.007291	0	29	81		
POU6F1	5463	broad.mit.edu	37	12	51584140	51584140	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:51584140C>T	ENST00000389243.4	-	11	1735	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	POU6F1_ENST00000550824.1_Missense_Mutation_p.E266K|POU6F1_ENST00000333640.10_Missense_Mutation_p.E266K			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	266					brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E266K(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TTAGCAATTTCAGTGATCTCC	0.547																																						uc001rxy.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(796-798)GAA>AAA		POU class 6 homeobox 1							117.0	110.0	112.0					12																	51584140		2203	4300	6503	SO:0001583	missense	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51584140C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.796G>A	12.37:g.51584140C>T	ENSP00000373895:p.Glu266Lys					POU6F1_uc001rxz.2_Missense_Mutation_p.E266K|POU6F1_uc001rya.2_Missense_Mutation_p.E266K	p.E266K	NM_002702	NP_002693	Q14863	PO6F1_HUMAN			5	988	-			266			Homeobox.		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	c.796G>A	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541298	0.85917	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.96522	-4.04;-4.04;-4.04	5.43	5.43	0.79202	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.046804	0.85682	D	0.000000	D	0.94162	0.8127	L	0.49640	1.575	0.80722	D	1	B	0.26363	0.147	B	0.23419	0.046	D	0.91919	0.5546	10	0.21014	T	0.42	.	18.0148	0.89236	0.0:1.0:0.0:0.0	.	266	Q14863	PO6F1_HUMAN	K	266	ENSP00000373895:E266K;ENSP00000330190:E266K;ENSP00000448389:E266K	ENSP00000330190:E266K	E	-	1	0	POU6F1	49870407	1.000000	0.71417	0.953000	0.39169	0.976000	0.68499	4.890000	0.63178	2.553000	0.86117	0.561000	0.74099	GAA		0.547	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1		NM_002702		35	134	0	0	0	0.013726	0	35	134		
KRT75	9119	broad.mit.edu	37	12	52827960	52827960	+	Silent	SNP	C	C	G	rs267603517		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:52827960C>G	ENST00000252245.5	-	1	349	c.129G>C	c.(127-129)ggG>ggC	p.G43G		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	43	Gly-rich.|Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGCCCCCACTCCCTGCTGCAG	0.672																																						uc001saj.2		NaN																	0					0						c.(127-129)GGG>GGC		keratin 75							30.0	33.0	32.0					12																	52827960		2203	4300	6503	SO:0001819	synonymous_variant	9119					keratin filament	structural molecule activity	g.chr12:52827960C>G	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.129G>C	12.37:g.52827960C>G							p.G43G	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	1	151	-			43			Gly-rich.|Head.		B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	c.129G>C	CCDS8827.1																																																																																				0.672	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1		NM_004693		6	48	0	0	0	0.004482	0	6	48		
KRT3	3850	broad.mit.edu	37	12	53185189	53185189	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53185189T>C	ENST00000417996.2	-	7	1410	c.1336A>G	c.(1336-1338)Att>Gtt	p.I446V	KRT3_ENST00000309505.3_Missense_Mutation_p.I446V	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	446	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCTCGGCAATGGCCGTCTGC	0.592																																						uc001say.2		NaN																	0					0						c.(1336-1338)ATT>GTT		keratin 3							68.0	67.0	67.0					12																	53185189		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53185189T>C		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1336A>G	12.37:g.53185189T>C	ENSP00000413479:p.Ile446Val						p.I446V	NM_057088	NP_476429	P12035	K2C3_HUMAN			7	1402	-			446			Rod.|Coil 2.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.1336A>G	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.625499	0.66901	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.88586	-2.4;-2.4	4.57	0.903	0.19296	Filament (1);	0.151000	0.30142	N	0.010319	D	0.90521	0.7030	M	0.69823	2.125	0.29157	N	0.878026	D	0.59767	0.986	P	0.57720	0.826	D	0.84873	0.0826	10	0.49607	T	0.09	.	8.3641	0.32376	0.0:0.2321:0.0:0.7679	.	446	P12035	K2C3_HUMAN	V	446	ENSP00000413479:I446V;ENSP00000312206:I446V	ENSP00000312206:I446V	I	-	1	0	KRT3	51471456	0.842000	0.29525	0.002000	0.10522	0.296000	0.27459	0.796000	0.26986	0.063000	0.16370	0.459000	0.35465	ATT		0.592	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1		NM_057088		32	42	0	0	0	0.003755	0	32	42		
CSAD	51380	broad.mit.edu	37	12	53565116	53565116	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53565116C>G	ENST00000444623.1	-	8	828	c.561G>C	c.(559-561)tcG>tcC	p.S187S	CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000267085.4_Silent_p.S214S|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000491654.1_5'Flank|CSAD_ENST00000453446.2_Silent_p.S187S	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	187					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CCACCTCCTTCGATGTGAATA	0.587																																					Ovarian(109;252 1546 16882 28524 44645)	uc001sby.2		NaN																	0				ovary(1)	1						c.(559-561)TCG>TCC		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						48.0	51.0	50.0					12																	53565116		2203	4300	6503	SO:0001819	synonymous_variant	51380	Hereditary_Prostate_Cancer			carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53565116C>G	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.561G>C	12.37:g.53565116C>G						CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_Intron|CSAD_uc010snx.1_Silent_p.S214S|CSAD_uc001sbz.2_Silent_p.S187S|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_3'UTR	p.S187S	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN			7	687	-			187					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Silent	SNP	ENST00000444623.1	37	c.561G>C	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	C	8.656	0.899487	0.17686	.	.	ENSG00000139631	ENST00000379850	.	.	.	5.36	-10.7	0.00240	.	.	.	.	.	T	0.49983	0.1589	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62950	-0.6745	4	.	.	.	-6.8019	11.7068	0.51601	0.0:0.5286:0.0895:0.382	.	.	.	.	Q	213	.	.	E	-	1	0	CSAD	51851383	0.000000	0.05858	0.025000	0.17156	0.915000	0.54546	-4.031000	0.00309	-1.770000	0.01295	-0.290000	0.09829	GAA		0.587	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1		NM_015989		35	59	0	0	0	0.004878	0	35	59		
RARG	5916	broad.mit.edu	37	12	53607344	53607344	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53607344G>A	ENST00000425354.2	-	8	1441	c.954C>T	c.(952-954)ctC>ctT	p.L318L	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Silent_p.L307L|RARG_ENST00000543726.1_Silent_p.L296L|RARG_ENST00000327550.3_Silent_p.L246L|RARG_ENST00000394426.1_Silent_p.L318L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	318	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCAGGGGCAGGAGCTGCCCAG	0.652											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(952-954)CTC>CTT		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						63.0	59.0	60.0					12																	53607344		2203	4300	6503	SO:0001819	synonymous_variant	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607344G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.954C>T	12.37:g.53607344G>A			OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_uc001scd.2_Silent_p.L307L|RARG_uc010sob.1_Silent_p.L296L|RARG_uc001scf.2_Silent_p.L318L|RARG_uc001scg.2_Silent_p.L246L|RARG_uc010soc.1_Silent_p.L197L|RARG_uc010sod.1_Silent_p.L355L	p.L318L	NM_000966	NP_000957	P13631	RARG_HUMAN			8	1439	-			318			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	ENST00000425354.2	37	c.954C>T	CCDS8850.1																																																																																				0.652	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		24	27	0	0	0	0.00333	0	24	27		
RARG	5916	broad.mit.edu	37	12	53609125	53609125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53609125G>A	ENST00000425354.2	-	5	914	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Nonsense_Mutation_p.Q132*|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q121*|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q71*|RARG_ENST00000394426.1_Nonsense_Mutation_p.Q143*	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	143					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CGGCAGTACTGGCAGCGATTC	0.547																																						uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(427-429)CAG>TAG		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						213.0	170.0	184.0					12																	53609125		2203	4300	6503	SO:0001587	stop_gained	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53609125G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.427C>T	12.37:g.53609125G>A	ENSP00000388510:p.Gln143*					RARG_uc001scd.2_Nonsense_Mutation_p.Q132*|RARG_uc010sob.1_Nonsense_Mutation_p.Q121*|RARG_uc001scf.2_Nonsense_Mutation_p.Q143*|RARG_uc001scg.2_Nonsense_Mutation_p.Q71*|RARG_uc010soc.1_Nonsense_Mutation_p.Q22*|RARG_uc010sod.1_Nonsense_Mutation_p.Q180*	p.Q143*	NM_000966	NP_000957	P13631	RARG_HUMAN			5	912	-			143			NR C4-type.|Nuclear receptor.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Nonsense_Mutation	SNP	ENST00000425354.2	37	c.427C>T	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	40	8.280558	0.98740	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3946	0.83586	0.0:0.0:1.0:0.0	.	.	.	.	X	143;143;71;132;121;180	.	ENSP00000332695:Q71X	Q	-	1	0	RARG	51895392	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.578000	0.98200	2.471000	0.83476	0.591000	0.81541	CAG		0.547	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		32	81	0	0	0	0.004289	0	32	81		
SP1	6667	broad.mit.edu	37	12	53776403	53776403	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53776403C>T	ENST00000327443.4	+	3	770	c.672C>T	c.(670-672)atC>atT	p.I224I	SP1_ENST00000426431.2_Silent_p.I217I	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	224	Transactivation domain A (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GAGGCAACATCATTGCTGCTA	0.502																																						uc001scw.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(670-672)ATC>ATT		Sp1 transcription factor isoform a							119.0	104.0	109.0					12																	53776403		2203	4300	6503	SO:0001819	synonymous_variant	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776403C>T	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.672C>T	12.37:g.53776403C>T						SP1_uc010sog.1_Silent_p.I217I	p.I224I	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	769	+			224			Transactivation domain A (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Silent	SNP	ENST00000327443.4	37	c.672C>T	CCDS8857.1																																																																																				0.502	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1				52	84	0	0	0	0.01441	0	52	84		
HOXC5	3222	broad.mit.edu	37	12	54427115	54427115	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:54427115A>C	ENST00000312492.2	+	1	479	c.209A>C	c.(208-210)cAc>cCc	p.H70P	HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|MIR615_ENST00000384839.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	70					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H70P(1)		cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCCCGGGCTCACCCCGACCGC	0.672																																						uc001sew.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(208-210)CAC>CCC		homeobox C5							24.0	27.0	26.0					12																	54427115		2203	4300	6503	SO:0001583	missense	3222				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54427115A>C		CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.209A>C	12.37:g.54427115A>C	ENSP00000309336:p.His70Pro					HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank	p.H70P	NM_018953	NP_061826	Q00444	HXC5_HUMAN			1	284	+			70						Missense_Mutation	SNP	ENST00000312492.2	37	c.209A>C	CCDS8872.1	.	.	.	.	.	.	.	.	.	.	A	6.450	0.451249	0.12223	.	.	ENSG00000172789	ENST00000312492	D	0.90004	-2.6	4.78	4.78	0.61160	.	0.000000	0.51477	D	0.000086	T	0.77398	0.4124	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72194	-0.4364	10	0.24483	T	0.36	.	13.7379	0.62829	1.0:0.0:0.0:0.0	.	70	Q00444	HXC5_HUMAN	P	70	ENSP00000309336:H70P	ENSP00000309336:H70P	H	+	2	0	HOXC5	52713382	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.176000	0.42500	2.137000	0.66172	0.496000	0.49642	CAC		0.672	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1				7	16	0	0	0	0.010729	0	7	16		
OR6C2	341416	broad.mit.edu	37	12	55846762	55846762	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:55846762C>T	ENST00000322678.1	+	1	765	c.765C>T	c.(763-765)ttC>ttT	p.F255F	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	255					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GCTGCATCTTCATCTATATCA	0.423																																						uc001sgz.1		NaN																	0				skin(2)	2						c.(763-765)TTC>TTT		olfactory receptor, family 6, subfamily C,							119.0	119.0	119.0					12																	55846762		2203	4299	6502	SO:0001819	synonymous_variant	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846762C>T	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.765C>T	12.37:g.55846762C>T							p.F255F	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			1	765	+			255			Helical; Name=6; (Potential).			Silent	SNP	ENST00000322678.1	37	c.765C>T	CCDS31824.1																																																																																				0.423	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1		NM_054105		32	167	0	0	0	0.009535	0	32	167		
SUOX	6821	broad.mit.edu	37	12	56397731	56397731	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56397731G>C	ENST00000394109.3	+	3	1282	c.558G>C	c.(556-558)ctG>ctC	p.L186L	SUOX_ENST00000551841.2_Intron|SUOX_ENST00000394115.2_Silent_p.L186L|SUOX_ENST00000266971.3_Silent_p.L186L|SUOX_ENST00000548274.1_Silent_p.L186L|SUOX_ENST00000356124.4_Silent_p.L186L			P51687	SUOX_HUMAN	sulfite oxidase	186	Moco domain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			ACCCAGCCCTGAAGGTCAACA	0.547																																						uc001six.2		NaN																	0					0						c.(556-558)CTG>CTC		sulfite oxidase precursor							74.0	72.0	73.0					12																	56397731		2203	4300	6503	SO:0001819	synonymous_variant	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397731G>C	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.558G>C	12.37:g.56397731G>C						SUOX_uc001siy.2_Silent_p.L186L|SUOX_uc001siz.2_Silent_p.L186L|SUOX_uc001sja.2_Silent_p.L186L	p.L186L	NM_000456	NP_000447	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		6	884	+			186			Molybdenum-pterin domain (By similarity).			Silent	SNP	ENST00000394109.3	37	c.558G>C	CCDS8901.2																																																																																				0.547	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1		NM_000456		25	24	0	0	0	0.003954	0	25	24		
ESYT1	23344	broad.mit.edu	37	12	56531079	56531079	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56531079G>A	ENST00000394048.5	+	17	2124	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	ESYT1_ENST00000267113.4_Silent_p.E630E|ESYT1_ENST00000541590.1_Silent_p.E630E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	620					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGACAGTGAGAATCCCCAGA	0.532																																						uc001sjq.2		NaN																	0				ovary(4)|skin(1)	5						c.(1858-1860)GAG>GAA		extended synaptotagmin-like protein 1							156.0	141.0	146.0					12																	56531079		2203	4300	6503	SO:0001819	synonymous_variant	23344					integral to membrane		g.chr12:56531079G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1860G>A	12.37:g.56531079G>A						ESYT1_uc001sjr.2_Silent_p.E630E	p.E620E	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			17	1910	+			620					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	c.1860G>A	CCDS8904.1																																																																																				0.532	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1		NM_015292		34	59	0	0	0	0.00623	0	34	59		
ANKRD52	283373	broad.mit.edu	37	12	56651667	56651667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56651667C>T	ENST00000267116.7	-	2	177	c.56G>A	c.(55-57)cGa>cAa	p.R19Q		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	19										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CTCCACATCTCGGCTAAAGAT	0.637																																						uc001skm.3		NaN																	0				ovary(2)	2						c.(55-57)CGA>CAA		ankyrin repeat domain 52							46.0	48.0	48.0					12																	56651667		1944	4141	6085	SO:0001583	missense	283373						protein binding	g.chr12:56651667C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.56G>A	12.37:g.56651667C>T	ENSP00000267116:p.Arg19Gln					ANKRD52_uc001skn.1_5'Flank	p.R19Q	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			2	146	-			19			ANK 1.		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.56G>A	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137354	0.77775	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.15487	2.42	4.12	4.12	0.48240	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.14657	0.0354	L	0.28740	0.885	0.80722	D	1	B	0.31680	0.335	B	0.30179	0.112	T	0.09885	-1.0654	10	0.72032	D	0.01	.	15.9937	0.80225	0.0:1.0:0.0:0.0	.	19	Q8NB46	ANR52_HUMAN	Q	19	ENSP00000267116:R19Q	ENSP00000267116:R19Q	R	-	2	0	ANKRD52	54937934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.155000	0.77445	2.218000	0.71995	0.484000	0.47621	CGA		0.637	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1		NM_173595		13	23	0	0	0	0.013537	0	13	23		
PAN2	9924	broad.mit.edu	37	12	56716974	56716974	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56716974C>T	ENST00000425394.2	-	17	2753	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	PAN2_ENST00000257931.5_Missense_Mutation_p.E792K|PAN2_ENST00000440411.3_Missense_Mutation_p.E789K|PAN2_ENST00000548043.1_Missense_Mutation_p.E793K	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AGCACACCCTCTGGACTCCCT	0.463																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(2377-2379)GAG>AAG		PAN2 polyA specific ribonuclease subunit homolog							154.0	147.0	149.0					12																	56716974		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56716974C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2377G>A	12.37:g.56716974C>T	ENSP00000401721:p.Glu793Lys					PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Missense_Mutation_p.E792K|PAN2_uc001sky.2_Missense_Mutation_p.E789K	p.E793K	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			17	2750	-			793						Missense_Mutation	SNP	ENST00000425394.2	37	c.2377G>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	8.556	0.876653	0.17395	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.22743	1.94;1.95;1.94;1.94	5.09	4.18	0.49190	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.250498	0.39759	N	0.001263	T	0.19846	0.0477	M	0.61703	1.905	0.47407	D	0.99941	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.004;0.004;0.006	T	0.03875	-1.0996	10	0.09590	T	0.72	-6.9616	11.7579	0.51886	0.0:0.9101:0.0:0.0899	.	792;789;793	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	K	793;789;792;793	ENSP00000401721:E793K;ENSP00000388231:E789K;ENSP00000257931:E792K;ENSP00000449861:E793K	ENSP00000257931:E792K	E	-	1	0	PAN2	55003241	1.000000	0.71417	0.926000	0.36857	0.890000	0.51754	5.010000	0.64004	2.543000	0.85770	0.561000	0.74099	GAG		0.463	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		100	150	0	0	0	0.01441	0	100	150		
PAN2	9924	broad.mit.edu	37	12	56720504	56720504	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56720504C>T	ENST00000425394.2	-	7	1535	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	PAN2_ENST00000257931.5_Missense_Mutation_p.D387N|PAN2_ENST00000440411.3_Missense_Mutation_p.D387N|PAN2_ENST00000548043.1_Missense_Mutation_p.D387N	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TGGCTCCAGTCCAGAGGAGGC	0.587																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(1159-1161)GAC>AAC		PAN2 polyA specific ribonuclease subunit homolog							92.0	80.0	84.0					12																	56720504		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56720504C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1159G>A	12.37:g.56720504C>T	ENSP00000401721:p.Asp387Asn					PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.D387N|PAN2_uc001sky.2_Missense_Mutation_p.D387N	p.D387N	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			7	1532	-			387						Missense_Mutation	SNP	ENST00000425394.2	37	c.1159G>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237692	0.58886	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05258	3.47;3.47;3.47;3.47	5.08	5.08	0.68730	.	0.048878	0.85682	D	0.000000	T	0.06690	0.0171	N	0.25647	0.755	0.80722	D	1	B;B;B	0.31125	0.309;0.309;0.081	B;B;B	0.33295	0.112;0.161;0.013	T	0.48352	-0.9043	10	0.21540	T	0.41	-23.4868	17.7745	0.88503	0.0:1.0:0.0:0.0	.	387;387;387	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	N	387	ENSP00000401721:D387N;ENSP00000388231:D387N;ENSP00000257931:D387N;ENSP00000449861:D387N	ENSP00000257931:D387N	D	-	1	0	PAN2	55006771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.193000	0.77780	2.803000	0.96430	0.585000	0.79938	GAC		0.587	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		7	64	0	0	0	0.00308	0	7	64		
PAN2	9924	broad.mit.edu	37	12	56720612	56720612	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56720612C>T	ENST00000425394.2	-	7	1427	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	PAN2_ENST00000257931.5_Missense_Mutation_p.E351K|PAN2_ENST00000440411.3_Missense_Mutation_p.E351K|PAN2_ENST00000548043.1_Missense_Mutation_p.E351K	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	ACACAGCCCTCAGAATCCCCA	0.562																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(1051-1053)GAG>AAG		PAN2 polyA specific ribonuclease subunit homolog							98.0	96.0	97.0					12																	56720612		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56720612C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1051G>A	12.37:g.56720612C>T	ENSP00000401721:p.Glu351Lys					PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.E351K|PAN2_uc001sky.2_Missense_Mutation_p.E351K	p.E351K	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			7	1424	-			351						Missense_Mutation	SNP	ENST00000425394.2	37	c.1051G>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175442	0.78564	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.128852	0.52532	D	0.000061	T	0.08223	0.0205	L	0.36672	1.1	0.50171	D	0.999852	P;P;B	0.39862	0.692;0.547;0.358	B;B;B	0.38755	0.204;0.281;0.065	T	0.19943	-1.0290	10	0.07325	T	0.83	-23.0064	18.0014	0.89198	0.0:1.0:0.0:0.0	.	351;351;351	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	K	351	ENSP00000401721:E351K;ENSP00000388231:E351K;ENSP00000257931:E351K;ENSP00000449861:E351K	ENSP00000257931:E351K	E	-	1	0	PAN2	55006879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.815000	0.69215	2.854000	0.98071	0.655000	0.94253	GAG		0.562	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		28	115	0	0	0	0.007291	0	28	115		
PAN2	9924	broad.mit.edu	37	12	56722297	56722297	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56722297G>A	ENST00000425394.2	-	3	787	c.411C>T	c.(409-411)ctC>ctT	p.L137L	PAN2_ENST00000257931.5_Silent_p.L137L|PAN2_ENST00000440411.3_Silent_p.L137L|PAN2_ENST00000548043.1_Silent_p.L137L	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CCATATACTTGAGGTTGTTCT	0.488																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(409-411)CTC>CTT		PAN2 polyA specific ribonuclease subunit homolog							85.0	87.0	87.0					12																	56722297		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56722297G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.411C>T	12.37:g.56722297G>A						PAN2_uc001skz.2_Silent_p.L137L|PAN2_uc001sky.2_Silent_p.L137L	p.L137L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			3	784	-			137						Silent	SNP	ENST00000425394.2	37	c.411C>T	CCDS44922.1																																																																																				0.488	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		54	120	0	0	0	0.01441	0	54	120		
NACA	4666	broad.mit.edu	37	12	57108199	57108199	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57108199C>T	ENST00000454682.1	-	5	6051	c.5770G>A	c.(5770-5772)Gaa>Aaa	p.E1924K	NACA_ENST00000552540.1_Missense_Mutation_p.E61K|NACA_ENST00000393891.4_Missense_Mutation_p.E61K|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000546392.1_Missense_Mutation_p.E61K|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000356769.3_Missense_Mutation_p.E61K|NACA_ENST00000550952.1_Missense_Mutation_p.E771K	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1924					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ACTGGTTCTTCATCAATTTCA	0.398			T	BCL6	NHL																																	uc001slz.2		NaN		Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				ovary(1)	1						c.(181-183)GAA>AAA		nascent polypeptide-associated complex alpha							108.0	97.0	101.0					12																	57108199		2203	4300	6503	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57108199C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5770G>A	12.37:g.57108199C>T	ENSP00000403817:p.Glu1924Lys					NACA_uc001sly.2_Missense_Mutation_p.E61K|NACA_uc009zoy.1_Missense_Mutation_p.E1924K|NACA_uc001smc.2_Missense_Mutation_p.E61K|NACA_uc001sma.2_Missense_Mutation_p.E771K|NACA_uc001smb.2_Missense_Mutation_p.E61K|NACA_uc010squ.1_RNA	p.E61K	NM_001113201	NP_001106672	Q13765	NACA_HUMAN			4	530	-			61						Missense_Mutation	SNP	ENST00000454682.1	37	c.181G>A		.	.	.	.	.	.	.	.	.	.	C	20.3	3.970539	0.74246	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000546392;ENST00000549259;ENST00000552055;ENST00000549855	T;T;T;T;T;T;T;T;T;T	0.54071	0.86;0.68;0.59;0.87;0.87;0.87;0.87;0.86;0.83;0.82	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	M	0.78637	2.42	0.58432	D	0.999991	P;B;B	0.37398	0.593;0.383;0.019	P;B;B	0.50570	0.644;0.437;0.017	T	0.69855	-0.5032	10	0.45353	T	0.12	.	16.4588	0.84030	0.0:1.0:0.0:0.0	.	1924;771;61	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	K	59;1924;771;61;61;61;61;61;57;61	ENSP00000448039:E59K;ENSP00000403817:E1924K;ENSP00000448035:E771K;ENSP00000349212:E61K;ENSP00000447821:E61K;ENSP00000377469:E61K;ENSP00000446801:E61K;ENSP00000447133:E61K;ENSP00000450383:E57K;ENSP00000447764:E61K	ENSP00000349212:E61K	E	-	1	0	NACA	55394466	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.751000	0.85126	2.166000	0.68216	0.460000	0.39030	GAA		0.398	NACA-201	KNOWN	basic	protein_coding	protein_coding			NM_005594		22	78	0	0	0	0.010504	0	22	78		
SDR9C7	121214	broad.mit.edu	37	12	57328012	57328012	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57328012G>A	ENST00000293502.1	-	1	177	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	12					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TTGAACCAGCGATACATAAAT	0.547																																						uc010sqw.1		NaN																	0				central_nervous_system(1)	1						c.(34-36)CGC>TGC		short chain dehydrogenase/reductase family 9C,							59.0	57.0	58.0					12																	57328012		2203	4300	6503	SO:0001583	missense	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57328012G>A	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.34C>T	12.37:g.57328012G>A	ENSP00000293502:p.Arg12Cys						p.R12C	NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN			1	34	-			12					B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	c.34C>T	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300385	0.23650	.	.	ENSG00000170426	ENST00000293502	D	0.89746	-2.56	5.18	4.28	0.50868	.	0.000000	0.56097	D	0.000034	D	0.83963	0.5368	L	0.51422	1.61	0.44402	D	0.99731	B	0.11235	0.004	B	0.04013	0.001	T	0.79529	-0.1766	10	0.45353	T	0.12	.	8.2042	0.31443	0.081:0.0:0.7642:0.1548	.	12	Q8NEX9	DR9C7_HUMAN	C	12	ENSP00000293502:R12C	ENSP00000293502:R12C	R	-	1	0	SDR9C7	55614279	1.000000	0.71417	0.983000	0.44433	0.281000	0.26958	2.330000	0.43885	1.402000	0.46780	0.655000	0.94253	CGC		0.547	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1		NM_148897		10	52	0	0	0	0.006214	0	10	52		
STAT6	6778	broad.mit.edu	37	12	57493598	57493598	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57493598A>T	ENST00000300134.3	-	15	2021	c.1696T>A	c.(1696-1698)Tca>Aca	p.S566T	STAT6_ENST00000556155.1_Missense_Mutation_p.S566T|STAT6_ENST00000543873.2_Missense_Mutation_p.S566T|STAT6_ENST00000537215.2_Missense_Mutation_p.S456T|STAT6_ENST00000454075.3_Missense_Mutation_p.S566T|STAT6_ENST00000538913.2_Missense_Mutation_p.S456T	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	566	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCAATCTCTGAGTCGCTGAAG	0.582																																						uc009zpe.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(1696-1698)TCA>ACA		signal transducer and activator of transcription							59.0	55.0	56.0					12																	57493598		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57493598A>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1696T>A	12.37:g.57493598A>T	ENSP00000300134:p.Ser566Thr					STAT6_uc009zpf.2_Missense_Mutation_p.S566T|STAT6_uc001sna.2_Missense_Mutation_p.S566T|STAT6_uc010srb.1_Missense_Mutation_p.S456T|STAT6_uc010src.1_Missense_Mutation_p.S456T|STAT6_uc010srd.1_Missense_Mutation_p.S456T|STAT6_uc009zpg.2_Missense_Mutation_p.S615T	p.S566T	NM_003153	NP_003144	P42226	STAT6_HUMAN			15	1947	-			566			SH2.		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1696T>A	CCDS8931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.2|27.2	4.811474|4.811474	0.90707|0.90707	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000553533|ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516;ENST00000555375	.|D;D;D;D;D;D;D	.|0.97279	.|-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;-4.32	4.92|4.92	4.92|4.92	0.64577|0.64577	.|SH2 motif (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97857|0.97857	0.9296|0.9296	M|M	0.66560|0.66560	2.04|2.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.83275	.|0.995;0.996	D|D	0.98476|0.98476	1.0603|1.0603	5|10	.|0.87932	.|D	.|0	-7.664|-7.664	12.5465|12.5465	0.56203|0.56203	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|566;566	.|A8K4S9;P42226	.|.;STAT6_HUMAN	H|T	284|566;456;456;566;566;456;566;456;566;132	.|ENSP00000300134:S566T;ENSP00000445409:S456T;ENSP00000438451:S566T;ENSP00000451742:S566T;ENSP00000444530:S456T;ENSP00000401486:S566T;ENSP00000450921:S132T	.|ENSP00000300134:S566T	L|S	-|-	2|1	0|0	STAT6|STAT6	55779865|55779865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.097000|9.097000	0.94193|0.94193	2.062000|2.062000	0.61559|0.61559	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.582	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3		NM_003153		11	23	0	0	0	0.001855	0	11	23		
INHBE	83729	broad.mit.edu	37	12	57850047	57850047	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57850047C>T	ENST00000266646.2	+	2	685	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	157					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GTCCCGCACTCTCCTGGCTGA	0.602											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	uc001snw.2		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(469-471)CTC>TTC		activin beta E precursor							187.0	175.0	179.0					12																	57850047		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57850047C>T		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.469C>T	12.37:g.57850047C>T	ENSP00000266646:p.Leu157Phe		OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1026		p.L157F	NM_031479	NP_113667	P58166	INHBE_HUMAN			2	693	+			157						Missense_Mutation	SNP	ENST00000266646.2	37	c.469C>T	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	C	1.106	-0.659734	0.03454	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.83837	-1.77;-0.85	4.5	0.564	0.17302	Transforming growth factor-beta, N-terminal (1);	0.793410	0.11468	N	0.561075	T	0.69396	0.3106	L	0.27053	0.805	0.21416	N	0.999695	B	0.12013	0.005	B	0.16289	0.015	T	0.52388	-0.8582	10	0.25106	T	0.35	-12.0167	7.3063	0.26449	0.0:0.5008:0.0:0.4992	.	157	P58166	INHBE_HUMAN	F	102;157	ENSP00000450212:L102F;ENSP00000266646:L157F	ENSP00000266646:L157F	L	+	1	0	INHBE	56136314	0.001000	0.12720	0.011000	0.14972	0.095000	0.18619	-0.138000	0.10374	-0.003000	0.14444	-0.140000	0.14226	CTC		0.602	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1		NM_031479		102	177	0	0	0	0.01441	0	102	177		
GLI1	2735	broad.mit.edu	37	12	57858641	57858641	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57858641G>A	ENST00000228682.2	+	4	470	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	GLI1_ENST00000546141.1_Missense_Mutation_p.G86S|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	127					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCTCTCCATTGGCACCATGAG	0.557																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NaN																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(379-381)GGC>AGC		GLI family zinc finger 1 isoform 1							88.0	79.0	82.0					12																	57858641		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57858641G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.379G>A	12.37:g.57858641G>A	ENSP00000228682:p.Gly127Ser					GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA	p.G127S	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		4	457	+			127					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.379G>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	g	6.531	0.466172	0.12402	.	.	ENSG00000111087	ENST00000228682;ENST00000546141;ENST00000528432;ENST00000528467	T;T;T	0.14893	2.47;2.61;2.61	3.62	0.685	0.18009	.	0.558498	0.15984	N	0.235161	T	0.09818	0.0241	N	0.13299	0.325	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.18023	-1.0350	10	0.37606	T	0.19	.	10.5328	0.44986	0.2595:0.0:0.7405:0.0	.	127	P08151	GLI1_HUMAN	S	127;86;127;86	ENSP00000228682:G127S;ENSP00000441006:G86S;ENSP00000434408:G86S	ENSP00000228682:G127S	G	+	1	0	GLI1	56144908	0.881000	0.30235	0.921000	0.36526	0.278000	0.26855	0.689000	0.25437	-0.210000	0.10140	-1.157000	0.01802	GGC		0.557	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1		NM_005269		15	57	0	0	0	0.003163	0	15	57		
DCTN2	10540	broad.mit.edu	37	12	57926780	57926780	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57926780C>T	ENST00000548249.1	-	9	1028	c.761G>A	c.(760-762)gGa>gAa	p.G254E	DCTN2_ENST00000543672.1_Missense_Mutation_p.G259E|DCTN2_ENST00000434715.3_Missense_Mutation_p.G259E|DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000537439.1_Missense_Mutation_p.G231E	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	254					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GAGACAGGCTCCCTGTAGACC	0.458																																						uc001som.1		NaN																	0				ovary(1)	1						c.(760-762)GGA>GAA		dynactin 2							91.0	90.0	90.0					12																	57926780		1879	4102	5981	SO:0001583	missense	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57926780C>T	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.761G>A	12.37:g.57926780C>T	ENSP00000447824:p.Gly254Glu					DCTN2_uc009zpu.1_Missense_Mutation_p.G259E|DCTN2_uc009zpv.1_Missense_Mutation_p.G167E|DCTN2_uc009zpw.1_Missense_Mutation_p.G167E|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_Missense_Mutation_p.G167E|DCTN2_uc001sop.1_Missense_Mutation_p.G167E|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Missense_Mutation_p.G254E	p.G254E	NM_006400	NP_006391	Q13561	DCTN2_HUMAN			9	893	-			254					B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	c.761G>A	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126644	0.77549	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000546758;ENST00000550086;ENST00000550954;ENST00000546670	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	L	0.41079	1.255	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.67900	0.923;0.923;0.954	T	0.54091	-0.8345	9	0.05833	T	0.94	-4.3337	18.01	0.89220	0.0:1.0:0.0:0.0	.	254;259;254	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	E	254;259;259;231;254;167;138;95;268;152	.	ENSP00000346785:G254E	G	-	2	0	DCTN2	56213047	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.065000	0.71176	2.868000	0.98415	0.557000	0.71058	GGA		0.458	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2		NM_006400		8	17	0	0	0	0.00308	0	8	17		
PIP4K2C	79837	broad.mit.edu	37	12	57994197	57994197	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57994197G>C	ENST00000354947.5	+	7	806	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.E216Q|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.E246Q|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.E264Q			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	264	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AATATTTCTGGAGAAGCTGAA	0.403																																						uc001sou.2		NaN																	0				central_nervous_system(2)|lung(1)	3						c.(790-792)GAG>CAG		phosphatidylinositol-5-phosphate 4-kinase, type							90.0	86.0	87.0					12																	57994197		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57994197G>C	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.790G>C	12.37:g.57994197G>C	ENSP00000347032:p.Glu264Gln					PIP4K2C_uc001sot.2_Missense_Mutation_p.E264Q|PIP4K2C_uc010srs.1_Missense_Mutation_p.E246Q|PIP4K2C_uc010srt.1_Missense_Mutation_p.E216Q	p.E264Q	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			7	921	+	Melanoma(17;0.122)		264			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.790G>C	CCDS8946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.349972|4.349972	0.82132|0.82132	.|.	.|.	ENSG00000166908|ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947|ENST00000436866;ENST00000548264	T;T;T;T|.	0.32753|.	1.44;1.44;1.44;1.44|.	4.78|4.78	3.89|3.89	0.44902|0.44902	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66127|0.66127	0.2758|0.2758	L|L	0.61387|0.61387	1.9|1.9	0.80722|0.80722	D|D	1|1	P;P;D|.	0.58970|.	0.645;0.624;0.984|.	P;P;D|.	0.66497|.	0.643;0.542;0.944|.	T|T	0.69343|0.69343	-0.5170|-0.5170	10|6	0.66056|0.87932	D|D	0.02|0	-21.3755|-21.3755	12.0882|12.0882	0.53710|0.53710	0.0861:0.0:0.9139:0.0|0.0861:0.0:0.9139:0.0	.|.	216;246;264|.	B4DM11;B4DY44;Q8TBX8|.	.;.;PI42C_HUMAN|.	Q|C	216;264;246;264|263;71	ENSP00000412035:E216Q;ENSP00000439878:E264Q;ENSP00000447390:E246Q;ENSP00000347032:E264Q|.	ENSP00000347032:E264Q|ENSP00000388853:W263C	E|W	+|+	1|3	0|0	PIP4K2C|PIP4K2C	56280464|56280464	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.985000|0.985000	0.73830|0.73830	9.383000|9.383000	0.97214|0.97214	1.145000|1.145000	0.42336|0.42336	0.555000|0.555000	0.69702|0.69702	GAG|TGG		0.403	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1		NM_024779		13	46	0	0	0	0.013537	0	13	46		
AGAP2	116986	broad.mit.edu	37	12	58127921	58127921	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:58127921G>A	ENST00000547588.1	-	5	1436	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	AGAP2_ENST00000257897.3_Silent_p.F143F	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	479	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCTCCAGGCTGAAGACGAAGA	0.587																																						uc001spq.2		NaN																	0				central_nervous_system(3)|breast(2)	5						c.(1435-1437)TTC>TTT		centaurin, gamma 1 isoform PIKE-L							60.0	52.0	55.0					12																	58127921		2203	4300	6503	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58127921G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1437C>T	12.37:g.58127921G>A						AGAP2_uc001spp.2_Silent_p.F479F|AGAP2_uc001spr.2_Silent_p.F143F	p.F479F	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			5	1437	-			479			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.1437C>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	9.815	1.184233	0.21870	.	.	ENSG00000135439	ENST00000328568	.	.	.	5.16	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9284	0.58272	0.0802:0.0:0.9198:0.0	.	.	.	.	X	343	.	.	Q	-	1	0	AGAP2	56414188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.804000	0.85993	1.320000	0.45209	0.561000	0.74099	CAG		0.587	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1		NM_014770		20	19	0	0	0	0.010504	0	20	19		
MARCH9	92979	broad.mit.edu	37	12	58152013	58152013	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:58152013G>T	ENST00000266643.5	+	3	1067	c.636G>T	c.(634-636)aaG>aaT	p.K212N	MARCH9_ENST00000548358.1_Missense_Mutation_p.K99N	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	212					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTTCAGCCAAGTGGCAACGAC	0.542																																						uc001spx.1		NaN																	0					0						c.(634-636)AAG>AAT		membrane-associated RING-CH protein IX							170.0	131.0	144.0					12																	58152013		2203	4300	6503	SO:0001583	missense	92979					Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding	g.chr12:58152013G>T	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.636G>T	12.37:g.58152013G>T	ENSP00000266643:p.Lys212Asn					MARCH9_uc001spy.2_Missense_Mutation_p.K99N	p.K212N	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	1048	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		212					B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	ENST00000266643.5	37	c.636G>T	CCDS31847.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182046	0.57800	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.58797	0.31;0.31	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.72574	0.3477	M	0.72479	2.2	0.54753	D	0.999988	D;D	0.76494	0.999;0.998	D;D	0.76071	0.987;0.94	T	0.72931	-0.4142	10	0.52906	T	0.07	.	11.5525	0.50729	0.0823:0.0:0.9177:0.0	.	99;212	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	N	212;99	ENSP00000266643:K212N;ENSP00000446758:K99N	ENSP00000266643:K212N	K	+	3	2	MARCH9	56438280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.360000	0.44151	2.822000	0.97130	0.563000	0.77884	AAG		0.542	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1		NM_138396		23	62	1	0	1.96895e-08	0.00278	2.03555e-08	23	62		
MON2	23041	broad.mit.edu	37	12	62861092	62861092	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:62861092C>T	ENST00000393632.2	+	1	496	c.105C>T	c.(103-105)gtC>gtT	p.V35V	MON2_ENST00000552115.1_Silent_p.V35V|MON2_ENST00000546600.1_Silent_p.V35V|MON2_ENST00000552738.1_Silent_p.V35V|MON2_ENST00000393629.2_Silent_p.V35V|MON2_ENST00000393630.3_Silent_p.V35V|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000280379.6_Silent_p.V35V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	35					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TCCCACCTGTCAAAGAGGTAA	0.542																																						uc001sre.2		NaN																	0				central_nervous_system(2)	2						c.(103-105)GTC>GTT		MON2 homolog							64.0	64.0	64.0					12																	62861092		2203	4300	6503	SO:0001819	synonymous_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62861092C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.105C>T	12.37:g.62861092C>T						MON2_uc009zqj.2_Silent_p.V35V|MON2_uc010ssl.1_5'UTR|MON2_uc010ssm.1_Silent_p.V35V|MON2_uc010ssn.1_Silent_p.V35V|MON2_uc001srd.1_Silent_p.V35V	p.V35V	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	1	496	+			35					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	c.105C>T	CCDS31849.1																																																																																				0.542	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3		NM_015026		20	70	0	0	0	0.008871	0	20	70		
LEMD3	23592	broad.mit.edu	37	12	65564632	65564632	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:65564632C>T	ENST00000308330.2	+	1	1282	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	419					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTGGCCGCCTCTAGTTCACTC	0.502																																						uc001ssl.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(1255-1257)TCT>TTT		LEM domain containing 3							73.0	78.0	76.0					12																	65564632		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65564632C>T	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1256C>T	12.37:g.65564632C>T	ENSP00000308369:p.Ser419Phe					LEMD3_uc009zqo.1_Missense_Mutation_p.S419F	p.S419F	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	1	1262	+			419					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1256C>T	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535859	0.27475	.	.	ENSG00000174106	ENST00000308330	T	0.51574	0.7	4.76	4.76	0.60689	.	1.220270	0.05944	N	0.637652	T	0.29652	0.0740	N	0.08118	0	0.09310	N	1	B	0.33448	0.412	B	0.30855	0.121	T	0.06807	-1.0806	9	.	.	.	0.0574	10.8548	0.46792	0.0:0.9105:0.0:0.0895	.	419	Q9Y2U8	MAN1_HUMAN	F	419	ENSP00000308369:S419F	.	S	+	2	0	LEMD3	63850899	0.021000	0.18746	0.015000	0.15790	0.777000	0.43975	2.842000	0.48230	2.587000	0.87381	0.462000	0.41574	TCT		0.502	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2				20	65	0	0	0	0.010504	0	20	65		
KCNMB4	27345	broad.mit.edu	37	12	70760748	70760748	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:70760748C>T	ENST00000258111.4	+	1	693	c.234C>T	c.(232-234)ggC>ggT	p.G78G		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	78					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	ACTGCAGGGGCACCTCGCAGT	0.627																																						uc001svx.2		NaN																	0					0						c.(232-234)GGC>GGT		calcium-activated potassium channel beta 4							64.0	63.0	63.0					12																	70760748		2203	4300	6503	SO:0001819	synonymous_variant	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70760748C>T	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.234C>T	12.37:g.70760748C>T							p.G78G	NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		1	687	+	Renal(347;0.236)		78			Extracellular (Potential).		Q8IVR3|Q9NPA4|Q9P0G5	Silent	SNP	ENST00000258111.4	37	c.234C>T	CCDS8997.1																																																																																				0.627	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1		NM_014505		23	78	0	0	0	0.014323	0	23	78		
OSBPL8	114882	broad.mit.edu	37	12	76788453	76788453	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:76788453C>T	ENST00000261183.3	-	9	1208	c.729G>A	c.(727-729)ttG>ttA	p.L243L	OSBPL8_ENST00000393250.4_Silent_p.L201L|OSBPL8_ENST00000393249.2_Silent_p.L201L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	243	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CTCGGATGATCAAATAACTGC	0.323																																						uc001sye.1		NaN																	0				ovary(1)	1						c.(727-729)TTG>TTA		oxysterol-binding protein-like protein 8 isoform							76.0	74.0	75.0					12																	76788453		2203	4300	6503	SO:0001819	synonymous_variant	114882				lipid transport		lipid binding	g.chr12:76788453C>T	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.729G>A	12.37:g.76788453C>T						OSBPL8_uc001syf.1_Silent_p.L201L|OSBPL8_uc001syg.1_Silent_p.L201L|OSBPL8_uc001syh.1_Silent_p.L218L	p.L243L	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			9	1209	-			243			PH.		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Silent	SNP	ENST00000261183.3	37	c.729G>A	CCDS31862.1																																																																																				0.323	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1		NM_020841		31	39	0	0	0	0.003271	0	31	39		
NAV3	89795	broad.mit.edu	37	12	78513043	78513043	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:78513043G>C	ENST00000397909.2	+	15	3240	c.3067G>C	c.(3067-3069)Gag>Cag	p.E1023Q	NAV3_ENST00000228327.6_Missense_Mutation_p.E1023Q|NAV3_ENST00000266692.7_Missense_Mutation_p.E1023Q|NAV3_ENST00000536525.2_Missense_Mutation_p.E1023Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1023						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAAAGCTTCTGAGAAAGGAAA	0.418										HNSCC(70;0.22)																												uc001syp.2		NaN																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3067-3069)GAG>CAG		neuron navigator 3							124.0	117.0	119.0					12																	78513043		1854	4097	5951	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513043G>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3067G>C	12.37:g.78513043G>C	ENSP00000381007:p.Glu1023Gln	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.E1023Q|NAV3_uc010sub.1_Missense_Mutation_p.E523Q|NAV3_uc009zsf.2_Missense_Mutation_p.E31Q	p.E1023Q	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3240	+			1023					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3067G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.336108|4.336108	0.81801|0.81801	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000552895	T;T;T;T|.	0.32753|.	1.44;1.44;1.44;1.44|.	6.0|6.0	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.40302|.	U|.	0.001135|.	T|.	0.73102|.	0.3544|.	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.971;0.997;0.962;0.997|.	T|.	0.72909|.	-0.4149|.	10|.	0.52906|.	T|.	0.07|.	-23.3851|-23.3851	16.5122|16.5122	0.84288|0.84288	0.0:0.0:0.868:0.132|0.0:0.0:0.868:0.132	.|.	1023;1023;1023;1023|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	Q|S	1023|94	ENSP00000446132:E1023Q;ENSP00000381007:E1023Q;ENSP00000228327:E1023Q;ENSP00000266692:E1023Q|.	ENSP00000228327:E1023Q|.	E|X	+|+	1|2	0|2	NAV3|NAV3	77037174|77037174	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.956000|0.956000	0.61745|0.61745	9.577000|9.577000	0.98196|0.98196	1.499000|1.499000	0.48617|0.48617	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.418	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383		42	211	0	0	0	0.010771	0	42	211		
NAV3	89795	broad.mit.edu	37	12	78513245	78513245	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:78513245C>T	ENST00000397909.2	+	15	3442	c.3269C>T	c.(3268-3270)tCt>tTt	p.S1090F	NAV3_ENST00000228327.6_Missense_Mutation_p.S1090F|NAV3_ENST00000266692.7_Missense_Mutation_p.S1090F|NAV3_ENST00000536525.2_Missense_Mutation_p.S1090F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1090	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAAGTGGCTCTGCAACACTG	0.483										HNSCC(70;0.22)																												uc001syp.2		NaN																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3268-3270)TCT>TTT		neuron navigator 3							68.0	69.0	68.0					12																	78513245		1948	4155	6103	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513245C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3269C>T	12.37:g.78513245C>T	ENSP00000381007:p.Ser1090Phe	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S1090F|NAV3_uc010sub.1_Missense_Mutation_p.S590F|NAV3_uc009zsf.2_Missense_Mutation_p.S98F	p.S1090F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3442	+			1090			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3269C>T		.	.	.	.	.	.	.	.	.	.	C	19.11	3.763710	0.69878	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.64	5.64	0.86602	.	0.000000	0.35124	U	0.003435	T	0.68284	0.2984	M	0.77486	2.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	T	0.71241	-0.4651	10	0.87932	D	0	-11.1501	19.7005	0.96050	0.0:1.0:0.0:0.0	.	1090;1090;1090;1090	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	F	1090	ENSP00000446132:S1090F;ENSP00000381007:S1090F;ENSP00000228327:S1090F;ENSP00000266692:S1090F	ENSP00000228327:S1090F	S	+	2	0	NAV3	77037376	1.000000	0.71417	0.944000	0.38274	0.443000	0.32047	7.590000	0.82653	2.627000	0.88993	0.655000	0.94253	TCT		0.483	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383		13	62	0	0	0	0.004007	0	13	62		
ACSS3	79611	broad.mit.edu	37	12	81536974	81536974	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:81536974C>T	ENST00000548058.1	+	5	1779	c.869C>T	c.(868-870)tCa>tTa	p.S290L	ACSS3_ENST00000261206.3_Missense_Mutation_p.S289L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	290						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCTGTTCTTTCAGAACACCCA	0.453																																						uc001szl.1		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(868-870)TCA>TTA		acyl-CoA synthetase short-chain family member 3							128.0	116.0	120.0					12																	81536974		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81536974C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.869C>T	12.37:g.81536974C>T	ENSP00000449535:p.Ser290Leu					ACSS3_uc001szm.1_Missense_Mutation_p.S289L	p.S290L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			5	960	+			290					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.869C>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	36	5.628977	0.96671	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.41400	1.0;1.0	5.58	5.58	0.84498	AMP-dependent synthetase/ligase (1);	0.054145	0.85682	D	0.000000	T	0.66307	0.2776	M	0.87381	2.88	0.80722	D	1	D	0.56968	0.978	P	0.55545	0.778	T	0.72316	-0.4330	10	0.87932	D	0	-9.7518	19.9439	0.97175	0.0:1.0:0.0:0.0	.	290	Q9H6R3	ACSS3_HUMAN	L	290;289	ENSP00000449535:S290L;ENSP00000261206:S289L	ENSP00000261206:S289L	S	+	2	0	ACSS3	80061105	1.000000	0.71417	0.974000	0.42286	0.845000	0.48019	7.561000	0.82288	2.797000	0.96272	0.561000	0.74099	TCA		0.453	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1		NM_024560		97	20	0	0	0	0.01441	0	97	20		
KERA	11081	broad.mit.edu	37	12	91445283	91445283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:91445283G>A	ENST00000266719.3	-	3	1146	c.899C>T	c.(898-900)tCt>tTt	p.S300F		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	300					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ACATATTACAGAGACATTCAC	0.428																																						uc001tbl.2		NaN																	0				skin(1)	1						c.(898-900)TCT>TTT		keratocan precursor							84.0	70.0	75.0					12																	91445283		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91445283G>A	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.899C>T	12.37:g.91445283G>A	ENSP00000266719:p.Ser300Phe						p.S300F	NM_007035	NP_008966	O60938	KERA_HUMAN			3	1518	-			300			LRR 10.			Missense_Mutation	SNP	ENST00000266719.3	37	c.899C>T	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851703	0.51270	.	.	ENSG00000139330	ENST00000266719	T	0.57273	0.41	5.62	5.62	0.85841	.	0.338913	0.34580	N	0.003857	T	0.57051	0.2027	L	0.45698	1.435	0.48288	D	0.999627	P	0.44429	0.835	P	0.47430	0.547	T	0.52975	-0.8503	10	0.37606	T	0.19	-18.1835	19.2611	0.93968	0.0:0.0:1.0:0.0	.	300	O60938	KERA_HUMAN	F	300	ENSP00000266719:S300F	ENSP00000266719:S300F	S	-	2	0	KERA	89969414	1.000000	0.71417	0.982000	0.44146	0.124000	0.20399	6.071000	0.71229	2.655000	0.90218	0.655000	0.94253	TCT		0.428	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2		NM_007035		31	39	0	0	0	0.009535	0	31	39		
UBE2N	7334	broad.mit.edu	37	12	93804976	93804976	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:93804976C>T	ENST00000318066.2	-	2	507	c.130G>A	c.(130-132)Gat>Aat	p.D44N	UBE2N_ENST00000549833.1_5'UTR|UBE2N_ENST00000550657.1_Missense_Mutation_p.D44N|UBE2N_ENST00000552442.1_Missense_Mutation_p.D44N	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	44					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|DNA double-strand break processing (GO:0000729)|double-strand break repair via homologous recombination (GO:0000724)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone ubiquitination (GO:0016574)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone modification (GO:0031058)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|postreplication repair (GO:0006301)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of DNA repair (GO:0006282)|regulation of histone ubiquitination (GO:0033182)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-MMS2 complex (GO:0031372)|UBC13-UEV1A complex (GO:0035370)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|liver(2)|lung(5)	10						AAGGGGGAATCCTGAGGGCCA	0.478								Direct reversal of damage;Rad6 pathway																													Pancreas(197;738 2228 30225 32034 33454)	uc001tcp.2		NaN																	0					0						c.(130-132)GAT>AAT	Direct_reversal_of_damage|Rad6_pathway	ubiquitin-conjugating enzyme E2N							83.0	83.0	83.0					12																	93804976		2203	4300	6503	SO:0001583	missense	7334				DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity	g.chr12:93804976C>T	D83004	CCDS31875.1	12q22	2011-05-19	2011-05-19			ENSG00000177889		"""Ubiquitin-conjugating enzymes E2"""	12492	protein-coding gene	gene with protein product		603679	"""ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)"", ""ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)"""			8902611	Standard	NM_003348		Approved	UbcH-ben, UBC13, MGC8489	uc001tcp.3	P61088	OTTHUMG00000170156	ENST00000318066.2:c.130G>A	12.37:g.93804976C>T	ENSP00000316176:p.Asp44Asn						p.D44N	NM_003348	NP_003339	P61088	UBE2N_HUMAN			2	496	-			44					Q16781|Q53Y81	Missense_Mutation	SNP	ENST00000318066.2	37	c.130G>A	CCDS31875.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042562	0.93685	.	.	ENSG00000177889	ENST00000318066;ENST00000550657;ENST00000552442	T;T;T	0.73258	-0.73;-0.73;-0.73	5.94	5.94	0.96194	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44285	U	0.000471	T	0.69342	0.3100	L	0.28014	0.82	0.80722	D	1	B	0.31174	0.311	B	0.40982	0.345	T	0.69243	-0.5196	10	0.87932	D	0	-4.3098	20.3736	0.98901	0.0:1.0:0.0:0.0	.	44	P61088	UBE2N_HUMAN	N	44	ENSP00000316176:D44N;ENSP00000449352:D44N;ENSP00000448352:D44N	ENSP00000316176:D44N	D	-	1	0	UBE2N	92329107	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.740000	0.84986	2.820000	0.97059	0.650000	0.86243	GAT		0.478	UBE2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407710.1		NM_003348		51	92	0	0	0	0.01441	0	51	92		
CCDC38	120935	broad.mit.edu	37	12	96284667	96284667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:96284667C>G	ENST00000344280.3	-	9	1371	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	272										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCCCGGACTCCTCAAGGATG	0.443																																						uc001tek.1		NaN																	0				skin(1)	1						c.(814-816)GAG>CAG		coiled-coil domain containing 38							72.0	69.0	70.0					12																	96284667		2203	4300	6503	SO:0001583	missense	120935							g.chr12:96284667C>G	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.814G>C	12.37:g.96284667C>G	ENSP00000345470:p.Glu272Gln						p.E272Q	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			9	1048	-			272					Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.814G>C	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	C	5.440	0.266216	0.10294	.	.	ENSG00000165972	ENST00000344280	T	0.32272	1.46	3.24	1.39	0.22231	.	4.376240	0.00357	N	0.000037	T	0.26810	0.0656	L	0.53249	1.67	0.09310	N	1	P	0.38335	0.627	B	0.34489	0.184	T	0.15607	-1.0431	10	0.14656	T	0.56	7.125	5.1677	0.15094	0.0:0.7254:0.0:0.2746	.	272	Q502W7	CCD38_HUMAN	Q	272	ENSP00000345470:E272Q	ENSP00000345470:E272Q	E	-	1	0	CCDC38	94808798	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.027000	0.13621	0.380000	0.24823	0.313000	0.20887	GAG		0.443	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1		NM_182496		27	45	0	0	0	0.00632	0	27	45		
HAL	3034	broad.mit.edu	37	12	96382019	96382019	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:96382019C>T	ENST00000261208.3	-	11	1224		c.e11-1		HAL_ENST00000551562.1_5'Flank|HAL_ENST00000538703.1_Splice_Site|HAL_ENST00000541929.1_Splice_Site	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase						biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTTCTAGCACCTATAGAATGA	0.308																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1		NaN																	0				ovary(2)|skin(1)	3						c.e11-1		histidine ammonia-lyase	L-Histidine(DB00117)						120.0	132.0	128.0					12																	96382019		2202	4298	6500	SO:0001630	splice_region_variant	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96382019C>T		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.856-1G>A	12.37:g.96382019C>T						HAL_uc009zti.1_Splice_Site|HAL_uc010suw.1_Splice_Site_p.V78_splice|HAL_uc010sux.1_Splice_Site_p.V286_splice	p.V286_splice	NM_002108	NP_002099	P42357	HUTH_HUMAN			11	1153	-								B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Splice_Site	SNP	ENST00000261208.3	37	c.856_splice	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239313	0.58995	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703;ENST00000552509	.	.	.	5.26	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6858	0.62515	0.0:0.9254:0.0:0.0746	.	.	.	.	.	-1	.	.	.	-	.	.	HAL	94906150	1.000000	0.71417	0.970000	0.41538	0.787000	0.44495	7.066000	0.76734	1.224000	0.43551	0.561000	0.74099	.		0.308	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			Intron	105	156	0	0	0	0.01441	0	105	156		
CFAP54	144535	broad.mit.edu	37	12	97051853	97051853	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:97051853C>T	ENST00000524981.4	+	37	5317	c.5294C>T	c.(5293-5295)tCt>tTt	p.S1765F				Q96N23	CL055_HUMAN		0																	ACACTAGTATCTCTTGCCATT	0.313																																						uc001tet.1		NaN																	0				skin(6)|ovary(1)	7						c.(568-570)TCT>TTT		hypothetical protein LOC374467							72.0	77.0	75.0					12																	97051853		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97051853C>T																												ENST00000524981.4:c.5294C>T	12.37:g.97051853C>T	ENSP00000431759:p.Ser1765Phe						p.S190F	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			4	647	+			190						Missense_Mutation	SNP	ENST00000524981.4	37	c.569C>T		.	.	.	.	.	.	.	.	.	.	C	10.45	1.353929	0.24512	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.94	3.91	0.45181	.	0.475155	0.17794	N	0.161794	T	0.30417	0.0764	L	0.44542	1.39	0.28908	N	0.892861	B	0.29432	0.244	B	0.22152	0.038	T	0.22312	-1.0220	9	0.59425	D	0.04	-6.2409	6.0167	0.19607	0.3597:0.5413:0.0:0.0991	.	190	Q6ZTY8	CL063_HUMAN	F	1765;190	.	ENSP00000345466:S190F	S	+	2	0	C12orf63	95575984	0.141000	0.22595	0.930000	0.37139	0.982000	0.71751	2.212000	0.42835	2.457000	0.83068	0.462000	0.41574	TCT		0.313	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4				31	115	0	0	0	0.012213	0	31	115		
UHRF1BP1L	23074	broad.mit.edu	37	12	100489579	100489579	+	Missense_Mutation	SNP	G	G	C	rs12824229		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:100489579G>C	ENST00000279907.7	-	7	918	c.706C>G	c.(706-708)Cta>Gta	p.L236V	UHRF1BP1L_ENST00000545232.2_5'Flank|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.L236V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	236										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCCAATATTAGAACTAACTTT	0.303																																						uc001tgq.2		NaN																	0				ovary(2)	2						c.(706-708)CTA>GTA		UHRF1 (ICBP90) binding protein 1-like isoform a							78.0	74.0	75.0					12																	100489579		2203	4298	6501	SO:0001583	missense	23074							g.chr12:100489579G>C		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.706C>G	12.37:g.100489579G>C	ENSP00000279907:p.Leu236Val					UHRF1BP1L_uc001tgr.2_Missense_Mutation_p.L236V|UHRF1BP1L_uc001tgp.2_5'Flank	p.L236V	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			7	935	-			236					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.706C>G	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072199	0.76415	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	T;T	0.32753	2.75;1.44	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.39937	0.1097	L	0.51422	1.61	0.58432	D	0.999999	P;D	0.55172	0.827;0.97	B;P	0.53102	0.199;0.718	T	0.10109	-1.0644	10	0.45353	T	0.12	-7.5759	12.5429	0.56182	0.0763:0.0:0.9237:0.0	.	236;236	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	V	236	ENSP00000279907:L236V;ENSP00000349285:L236V	ENSP00000279907:L236V	L	-	1	2	UHRF1BP1L	99013710	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.246000	0.51414	2.533000	0.85409	0.467000	0.42956	CTA		0.303	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1		NM_001006947		18	53	0	0	0	0.006122	0	18	53		
SLC5A8	160728	broad.mit.edu	37	12	101584349	101584349	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:101584349T>C	ENST00000536262.2	-	6	1288	c.730A>G	c.(730-732)Aca>Gca	p.T244A		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATAATAATTGTCCAGAAGGTG	0.373																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NaN																	0					0						c.(730-732)ACA>GCA		solute carrier family 5 (iodide transporter),							112.0	110.0	110.0					12																	101584349		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101584349T>C	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.730A>G	12.37:g.101584349T>C	ENSP00000445340:p.Thr244Ala						p.T244A	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			6	1120	-			244			Helical; (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.730A>G	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691717	0.88735	.	.	ENSG00000256870	ENST00000536262	D	0.87179	-2.22	5.86	5.86	0.93980	.	0.132957	0.64402	D	0.000002	D	0.90854	0.7127	L	0.43923	1.385	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.91814	0.5462	10	0.87932	D	0	.	16.2405	0.82405	0.0:0.0:0.0:1.0	.	244	Q8N695	SC5A8_HUMAN	A	244	ENSP00000445340:T244A	ENSP00000445340:T244A	T	-	1	0	SLC5A8	100108480	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.673000	0.83973	2.238000	0.73509	0.477000	0.44152	ACA		0.373	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1		NM_145913		30	96	0	0	0	0.00632	0	30	96		
CHPT1	56994	broad.mit.edu	37	12	102091702	102091702	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:102091702G>A	ENST00000229266.3	+	1	298	c.63G>A	c.(61-63)ctG>ctA	p.L21L	CHPT1_ENST00000549872.1_Silent_p.L21L|CHPT1_ENST00000550385.1_Intron	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	21					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCGAGCCGCTGAGCGCGGCGC	0.791																																						uc001tin.2		NaN																	0					0						c.(61-63)CTG>CTA		choline phosphotransferase 1																																				SO:0001819	synonymous_variant	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102091702G>A		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.63G>A	12.37:g.102091702G>A						CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Silent_p.L21L	p.L21L	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN			1	286	+			21					B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Silent	SNP	ENST00000229266.3	37	c.63G>A	CCDS9086.1																																																																																				0.791	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1		NM_020244		4	1	0	0	0	0.009096	0	4	1		
ALKBH2	121642	broad.mit.edu	37	12	109526080	109526080	+	Silent	SNP	G	G	A	rs182173906	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:109526080G>A	ENST00000429722.2	-	4	1080	c.717C>T	c.(715-717)ccC>ccT	p.P239P	ALKBH2_ENST00000343075.3_Silent_p.P239P|ALKBH2_ENST00000440112.2_3'UTR	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	239	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)	p.P239P(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TCTTTCTCACGGGAAGACTGT	0.483								Direct reversal of damage					G|||	2	0.000399361	0.0015	0.0	5008	,	,		15470	0.0		0.0	False		,,,				2504	0.0					uc001tnx.2		NaN																	1	Substitution - coding silent(1)		kidney(1)		0						c.(715-717)CCC>CCT	Direct_reversal_of_damage	AlkB homolog 2	Vitamin C(DB00126)						115.0	117.0	116.0					12																	109526080		2203	4300	6503	SO:0001819	synonymous_variant	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109526080G>A	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.717C>T	12.37:g.109526080G>A						ALKBH2_uc001tny.2_Silent_p.P239P|ALKBH2_uc010sxj.1_Silent_p.P239P|ALKBH2_uc009zvd.2_3'UTR|ALKBH2_uc010sxk.1_3'UTR	p.P239P	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN			4	1110	-			239			Fe2OG dioxygenase.		A4PET2|Q5XLE3	Silent	SNP	ENST00000429722.2	37	c.717C>T	CCDS31897.1																																																																																				0.483	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2		NM_001001655		49	193	0	0	0	0.01441	0	49	193		
RAD9B	144715	broad.mit.edu	37	12	110956540	110956540	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:110956540C>G	ENST00000409778.3	+	5	472	c.448C>G	c.(448-450)Caa>Gaa	p.Q150E	RAD9B_ENST00000392672.4_Missense_Mutation_p.Q219E|RAD9B_ENST00000409425.1_Missense_Mutation_p.Q147E|RAD9B_ENST00000409300.1_Missense_Mutation_p.Q219E|RAD9B_ENST00000409246.1_Missense_Mutation_p.Q147E			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	170					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGACTTCTTTCAAATTGGAAT	0.279																																						uc001trf.3		NaN																	0				pancreas(1)|skin(1)	2						c.(655-657)CAA>GAA		RAD9 homolog B							80.0	80.0	80.0					12																	110956540		2203	4299	6502	SO:0001583	missense	144715				cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding	g.chr12:110956540C>G		CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.448C>G	12.37:g.110956540C>G	ENSP00000386697:p.Gln150Glu					RAD9B_uc001trg.3_Missense_Mutation_p.Q219E|RAD9B_uc010sya.1_Missense_Mutation_p.Q150E|RAD9B_uc001tre.3_Missense_Mutation_p.Q147E|RAD9B_uc001trd.3_Missense_Mutation_p.Q61E	p.Q219E	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN			7	793	+			216					Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	ENST00000409778.3	37	c.655C>G		.	.	.	.	.	.	.	.	.	.	C	18.79	3.698515	0.68386	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.77	5.77	0.91146	.	0.060205	0.64402	D	0.000002	T	0.44871	0.1314	M	0.70595	2.14	0.36974	D	0.893964	D;P;P	0.63046	0.992;0.883;0.767	P;P;P	0.61328	0.887;0.713;0.603	T	0.43261	-0.9402	9	.	.	.	-15.4664	18.5466	0.91048	0.0:1.0:0.0:0.0	.	150;219;216	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	E	147;219;219;147;150	ENSP00000387329:Q147E;ENSP00000376440:Q219E;ENSP00000386434:Q219E;ENSP00000386629:Q147E;ENSP00000386697:Q150E	.	Q	+	1	0	RAD9B	109440923	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	3.084000	0.50143	2.718000	0.92993	0.460000	0.39030	CAA		0.279	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404634.1		NM_152442		42	57	0	0	0	0.010771	0	42	57		
CCDC63	160762	broad.mit.edu	37	12	111290763	111290763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:111290763C>T	ENST00000308208.5	+	2	247	c.5C>T	c.(4-6)tCt>tTt	p.S2F	CCDC63_ENST00000545036.1_Intron|CCDC63_ENST00000552694.1_Intron|CCDC63_ENST00000550317.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	2										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TTCAAGATGTCTGTGGTAGGT	0.537																																						uc001trv.1		NaN																	0				skin(6)|ovary(1)|pancreas(1)	8						c.(4-6)TCT>TTT		coiled-coil domain containing 63							167.0	123.0	138.0					12																	111290763		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111290763C>T	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.5C>T	12.37:g.111290763C>T	ENSP00000312399:p.Ser2Phe					CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Intron|CCDC63_uc001trw.1_Intron	p.S2F	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			2	200	+			2					B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.5C>T	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	C	5.567	0.289387	0.10513	.	.	ENSG00000173093	ENST00000308208	T	0.33865	1.39	5.33	2.36	0.29203	.	1.022190	0.07820	N	0.959562	T	0.25044	0.0608	N	0.22421	0.69	0.19300	N	0.999978	B	0.29037	0.231	B	0.24269	0.052	T	0.24941	-1.0146	10	0.66056	D	0.02	.	8.0197	0.30402	0.0:0.6054:0.3071:0.0875	.	2	Q8NA47	CCD63_HUMAN	F	2	ENSP00000312399:S2F	ENSP00000312399:S2F	S	+	2	0	CCDC63	109775146	0.054000	0.20591	0.161000	0.22692	0.025000	0.11179	0.791000	0.26915	0.683000	0.31428	0.561000	0.74099	TCT		0.537	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2		NM_152591		27	32	0	0	0	0.004656	0	27	32		
DTX1	1840	broad.mit.edu	37	12	113531504	113531504	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:113531504G>C	ENST00000257600.3	+	4	1667	c.1164G>C	c.(1162-1164)aaG>aaC	p.K388N	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	388					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ACCTTAAAAAGAGTACGCCCT	0.582																																						uc001tuk.1		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1162-1164)AAG>AAC		deltex homolog 1							22.0	27.0	25.0					12																	113531504		2202	4298	6500	SO:0001630	splice_region_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113531504G>C	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1165+1G>C	12.37:g.113531504G>C							p.K388N	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			4	1500	+			388					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1164G>C	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998210	0.35226	.	.	ENSG00000135144	ENST00000257600	T	0.12984	2.63	3.79	1.38	0.22167	.	0.322570	0.30085	N	0.010441	T	0.09423	0.0232	L	0.38175	1.15	0.34937	D	0.749905	B	0.20887	0.049	B	0.17098	0.017	T	0.23368	-1.0190	10	0.25751	T	0.34	-2.9072	7.5267	0.27660	0.3771:0.0:0.6228:0.0	.	388	Q86Y01	DTX1_HUMAN	N	388	ENSP00000257600:K388N	ENSP00000257600:K388N	K	+	3	2	DTX1	112015887	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	1.615000	0.36922	0.156000	0.19299	0.491000	0.48974	AAG		0.582	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			Missense_Mutation	11	17	0	0	0	0.013537	0	11	17		
DTX1	1840	broad.mit.edu	37	12	113532921	113532921	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:113532921G>A	ENST00000257600.3	+	7	1964	c.1461G>A	c.(1459-1461)atG>atA	p.M487I	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	487					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTGGGAAGATGGAGTTCCACC	0.642																																						uc001tuk.1		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1459-1461)ATG>ATA		deltex homolog 1							94.0	89.0	91.0					12																	113532921		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532921G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1461G>A	12.37:g.113532921G>A	ENSP00000257600:p.Met487Ile						p.M487I	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			7	1797	+			487					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1461G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586087	0.86851	.	.	ENSG00000135144	ENST00000257600	T	0.23552	1.9	4.54	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	H	0.95611	3.695	0.58432	D	0.999996	P	0.49090	0.919	P	0.61477	0.889	T	0.68281	-0.5450	10	0.87932	D	0	-13.9418	11.4165	0.49956	0.0918:0.0:0.9081:0.0	.	487	Q86Y01	DTX1_HUMAN	I	487	ENSP00000257600:M487I	ENSP00000257600:M487I	M	+	3	0	DTX1	112017304	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.576000	0.98192	0.884000	0.36064	0.561000	0.74099	ATG		0.642	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2				21	33	0	0	0	0.010504	0	21	33		
SLC8B1	80024	broad.mit.edu	37	12	113737681	113737681	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:113737681G>A	ENST00000552014.1	-	17	2171	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L	SLC8B1_ENST00000202831.3_Silent_p.L552L|SLC8B1_ENST00000546737.1_Silent_p.L496L|SLC8B1_ENST00000549069.1_Silent_p.L111L|SLC8B1_ENST00000550047.1_Silent_p.L67L			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	552					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										AGACTCTGCTGAGCTGGAAGC	0.577																																						uc001tvc.2		NaN																	0				central_nervous_system(1)	1						c.(1654-1656)CTC>CTT		solute carrier family 24 member 6 precursor							88.0	81.0	83.0					12																	113737681		2203	4300	6503	SO:0001819	synonymous_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113737681G>A	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1656C>T	12.37:g.113737681G>A						SLC24A6_uc001tuz.2_Silent_p.L257L|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.L290L	p.L552L	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN			16	1866	-			552			Extracellular (Potential).		A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	c.1656C>T	CCDS31909.1																																																																																				0.577	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3		NM_024959		25	37	0	0	0	0.010818	0	25	37		
TBX3	6926	broad.mit.edu	37	12	115120680	115120680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:115120680G>A	ENST00000257566.3	-	1	715	c.326C>T	c.(325-327)gCt>gTt	p.A109V	TBX3_ENST00000349155.2_Missense_Mutation_p.A109V	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	109					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AAGTTCTTTAGCCTCCAGGTG	0.592																																						uc001tvt.1		NaN																	0				ovary(2)|skin(1)	3						c.(325-327)GCT>GTT		T-box 3 protein isoform 2							50.0	52.0	51.0					12																	115120680		2203	4300	6503	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120680G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.326C>T	12.37:g.115120680G>A	ENSP00000257566:p.Ala109Val					TBX3_uc001tvu.1_Missense_Mutation_p.A109V|TBX3_uc010syw.1_Missense_Mutation_p.A109V	p.A109V	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	1	1290	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		109			T-box; first part.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.326C>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078210	0.76528	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.89875	-2.58;-2.58	5.32	5.32	0.75619	p53-like transcription factor, DNA-binding (1);	0.047542	0.85682	D	0.000000	D	0.91012	0.7173	M	0.63843	1.955	0.80722	D	1	P;D;D	0.64830	0.71;0.994;0.987	B;P;P	0.55161	0.136;0.77;0.63	D	0.89670	0.3883	10	0.33141	T	0.24	.	14.5999	0.68432	0.0:0.1457:0.8543:0.0	.	109;109;109	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	V	109	ENSP00000257567:A109V;ENSP00000257566:A109V	ENSP00000257566:A109V	A	-	2	0	TBX3	113605063	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.215000	0.72206	2.489000	0.83994	0.655000	0.94253	GCT		0.592	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2		NM_016569, NM_005996		31	49	0	0	0	0.013726	0	31	49		
MED13L	23389	broad.mit.edu	37	12	116418744	116418744	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:116418744C>G	ENST00000281928.3	-	23	5382		c.e23-1			NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGGCACAATCTAAAGACACA	0.378																																						uc001tvw.2		NaN																	0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.e23-1		mediator complex subunit 13-like							51.0	45.0	47.0					12																	116418744		2203	4300	6503	SO:0001630	splice_region_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116418744C>G	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5176-1G>C	12.37:g.116418744C>G							p.I1726_splice	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	23	5231	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)							A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Splice_Site	SNP	ENST00000281928.3	37	c.5176_splice	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002944	0.74932	.	.	ENSG00000123066	ENST00000281928;ENST00000552340	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9896	0.92786	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED13L	114903127	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.484000	0.81180	2.476000	0.83614	0.585000	0.79938	.		0.378	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			Intron	20	45	0	0	0	0.007413	0	20	45		
VSIG10	54621	broad.mit.edu	37	12	118511775	118511775	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:118511775C>T	ENST00000359236.5	-	5	1224	c.948G>A	c.(946-948)gaG>gaA	p.E316E		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	316	Ig-like C2-type 4.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TCTTCATGGGCTCAGAGAGAA	0.527																																						uc001tws.2		NaN																	0					0						c.(946-948)GAG>GAA		V-set and immunoglobulin domain containing 10							49.0	50.0	50.0					12																	118511775		1925	4120	6045	SO:0001819	synonymous_variant	54621					integral to membrane		g.chr12:118511775C>T		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.948G>A	12.37:g.118511775C>T							p.E316E	NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN			5	1282	-			316			Ig-like C2-type 4.|Extracellular (Potential).		Q9NWQ7	Silent	SNP	ENST00000359236.5	37	c.948G>A	CCDS44992.1																																																																																				0.527	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2		NM_019086		17	23	0	0	0	0.00499	0	17	23		
CCDC60	160777	broad.mit.edu	37	12	119954484	119954484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:119954484G>A	ENST00000327554.2	+	8	1405	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	314										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTCACAATAGAAAATGGGAT	0.468																																						uc001txe.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(940-942)GAA>AAA		coiled-coil domain containing 60							98.0	95.0	96.0					12																	119954484		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119954484G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.940G>A	12.37:g.119954484G>A	ENSP00000333374:p.Glu314Lys					uc001txf.2_Intron	p.E314K	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	8	1405	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		314						Missense_Mutation	SNP	ENST00000327554.2	37	c.940G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830520	0.50845	.	.	ENSG00000183273	ENST00000327554	T	0.23754	1.89	5.06	4.17	0.49024	.	0.380664	0.22250	N	0.062565	T	0.35624	0.0938	M	0.72479	2.2	0.21445	N	0.999681	P	0.49559	0.925	P	0.49597	0.616	T	0.19192	-1.0313	9	.	.	.	-12.851	9.4621	0.38792	0.096:0.0:0.904:0.0	.	314	Q8IWA6	CCD60_HUMAN	K	314	ENSP00000333374:E314K	.	E	+	1	0	CCDC60	118438867	0.076000	0.21285	0.005000	0.12908	0.003000	0.03518	2.745000	0.47459	1.360000	0.45960	-0.150000	0.13652	GAA		0.468	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1		NM_178499		16	58	0	0	0	0.004007	0	16	58		
COX6A1	1337	broad.mit.edu	37	12	120876184	120876184	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:120876184C>G	ENST00000229379.2	+	2	143	c.106C>G	c.(106-108)Cgc>Ggc	p.R36G	AL021546.6_ENST00000551806.1_Missense_Mutation_p.S12W	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	36					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCGCAGCTCGCATGTGGAA	0.637																																						uc001tyf.1		NaN																	0					0						c.(106-108)CGC>GGC		cytochrome c oxidase subunit VIa polypeptide 1							35.0	35.0	35.0					12																	120876184		2203	4300	6503	SO:0001583	missense	1337				respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity	g.chr12:120876184C>G	X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.106C>G	12.37:g.120876184C>G	ENSP00000229379:p.Arg36Gly						p.R36G	NM_004373	NP_004364	P12074	CX6A1_HUMAN			2	132	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		36					B2R500|O43714|Q32Q37	Missense_Mutation	SNP	ENST00000229379.2	37	c.106C>G	CCDS9197.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.21|18.21	3.573248|3.573248	0.65765|0.65765	.|.	.|.	ENSG00000111775|ENSG00000111780	ENST00000229379|ENST00000551806	.|.	.|.	.|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.109400|.	0.64402|.	D|.	0.000006|.	T|T	0.68869|0.68869	0.3048|0.3048	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.12630|.	0.006|.	B|.	0.18871|.	0.023|.	T|T	0.65224|0.65224	-0.6220|-0.6220	9|5	0.34782|.	T|.	0.22|.	-16.7029|-16.7029	18.9629|18.9629	0.92684|0.92684	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	36|.	P12074|.	CX6A1_HUMAN|.	G|W	36|12	.|.	ENSP00000229379:R36G|.	R|S	+|+	1|2	0|0	COX6A1|GATC	119360567|119360567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.865000|0.865000	0.49528|0.49528	5.013000|5.013000	0.64023|0.64023	2.543000|2.543000	0.85770|0.85770	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.637	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108984.3		NM_004373		8	21	0	0	0	0.008291	0	8	21		
SRSF9	8683	broad.mit.edu	37	12	120903591	120903591	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:120903591C>G	ENST00000229390.3	-	2	372		c.e2-1			NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						CTCTGCATCTCTAAAAAAAAC	0.453																																						uc001tyi.2		NaN																	0					0						c.e2-1		splicing factor, arginine/serine-rich 9							35.0	35.0	35.0					12																	120903591		2203	4300	6503	SO:0001630	splice_region_variant	8683				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding	g.chr12:120903591C>G	U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10791	protein-coding gene	gene with protein product	"""SR splicing factor 9"""	601943	"""splicing factor, arginine/serine-rich 9"""	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790	ENST00000229390.3:c.189-1G>C	12.37:g.120903591C>G						SFRS9_uc009zwy.2_Intron	p.R63_splice	NM_003769	NP_003760	Q13242	SRSF9_HUMAN			2	335	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							Q52LD1	Splice_Site	SNP	ENST00000229390.3	37	c.189_splice	CCDS9199.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582533	0.65992	.	.	ENSG00000111786	ENST00000229390;ENST00000550458	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6232	0.88087	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRSF9	119387974	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.909000	0.75735	2.705000	0.92388	0.650000	0.86243	.		0.453	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108983.2		NM_003769	Intron	20	42	0	0	0	0.012319	0	20	42		
RNF10	9921	broad.mit.edu	37	12	120995412	120995412	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:120995412G>A	ENST00000325954.4	+	6	1355	c.894G>A	c.(892-894)aaG>aaA	p.K298K	RNF10_ENST00000413266.2_Silent_p.K298K	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	298					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTGATGAAGAGGGAGAAAG	0.448																																						uc001typ.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(892-894)AAG>AAA		ring finger protein 10							311.0	254.0	274.0					12																	120995412		2203	4300	6503	SO:0001819	synonymous_variant	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120995412G>A	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.894G>A	12.37:g.120995412G>A						RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.K204K	p.K298K	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			6	1377	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		298					Q92550|Q9NPP8|Q9ULW4	Silent	SNP	ENST00000325954.4	37	c.894G>A	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980800	0.18812	.	.	ENSG00000022840	ENST00000542207;ENST00000541955	.	.	.	5.74	3.89	0.44902	.	.	.	.	.	T	0.59595	0.2205	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57365	-0.7824	4	.	.	.	.	9.3305	0.38018	0.2791:0.0:0.7209:0.0	.	.	.	.	K	96;91	.	.	R	+	2	0	RNF10	119479795	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.856000	0.27818	1.557000	0.49525	0.563000	0.77884	AGA		0.448	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4				37	190	0	0	0	0.004878	0	37	190		
P2RX7	5027	broad.mit.edu	37	12	121615003	121615003	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:121615003C>T	ENST00000546057.1	+	10	1169	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	P2RX7_ENST00000535250.1_Silent_p.S252S|P2RX7_ENST00000328963.5_Silent_p.S172S|P2RX7_ENST00000541446.1_Silent_p.S53S|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000377162.2_Silent_p.S253S	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	342					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAACCCTCTCCTACTTCGGTC	0.468																																						uc001tzm.2		NaN																	0				large_intestine(2)|lung(1)|breast(1)|skin(1)	5						c.(1024-1026)TCC>TCT		purinergic receptor P2X7							179.0	156.0	164.0					12																	121615003		2203	4300	6503	SO:0001819	synonymous_variant	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121615003C>T	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1026C>T	12.37:g.121615003C>T						P2RX7_uc001tzn.2_Silent_p.S252S|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_Silent_p.S53S|P2RX7_uc001tzq.2_Silent_p.S172S	p.S342S	NM_002562	NP_002553	Q99572	P2RX7_HUMAN			10	1122	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		342					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	ENST00000546057.1	37	c.1026C>T	CCDS9213.1																																																																																				0.468	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1		NM_002562		57	76	0	0	0	0.01441	0	57	76		
CLIP1	6249	broad.mit.edu	37	12	122817644	122817644	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:122817644C>G	ENST00000540338.1	-	14	2798	c.2757G>C	c.(2755-2757)ctG>ctC	p.L919L	CLIP1_ENST00000358808.2_Silent_p.L908L|CLIP1_ENST00000537178.1_Silent_p.L873L|CLIP1_ENST00000545889.1_Silent_p.L494L|CLIP1_ENST00000361654.4_Silent_p.L797L|CLIP1_ENST00000302528.7_Silent_p.L908L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	919					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGCCTTTATCAGCTGCTCTT	0.343																																						uc001ucg.1		NaN																	0				ovary(2)|breast(1)	3						c.(2755-2757)CTG>CTC		restin isoform a							188.0	162.0	171.0					12																	122817644		2202	4298	6500	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122817644C>G		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2757G>C	12.37:g.122817644C>G						CLIP1_uc001uch.1_Silent_p.L908L|CLIP1_uc001uci.1_Silent_p.L873L|CLIP1_uc001ucj.1_Silent_p.L494L	p.L919L	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	14	2863	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		919			Potential.		A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.2757G>C	CCDS58285.1																																																																																				0.343	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956		18	36	0	0	0	0.00499	0	18	36		
KNTC1	9735	broad.mit.edu	37	12	123089504	123089504	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:123089504C>G	ENST00000333479.7	+	50	5433	c.5256C>G	c.(5254-5256)ctC>ctG	p.L1752L	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Silent_p.L177L|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1752					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAGCTGTGCTCATAGCCCACA	0.438																																						uc001ucv.2		NaN																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(5254-5256)CTC>CTG		Rough Deal homolog, centromere/kinetochore							52.0	49.0	50.0					12																	123089504		1902	4122	6024	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123089504C>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5256C>G	12.37:g.123089504C>G						KNTC1_uc010taf.1_Intron	p.L1752L	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	50	5419	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1752					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.5256C>G	CCDS45002.1																																																																																				0.438	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2				10	13	0	0	0	0.008291	0	10	13		
HCAR1	27198	broad.mit.edu	37	12	123214722	123214722	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:123214722G>A	ENST00000436083.2	-	1	668	c.165C>T	c.(163-165)ttC>ttT	p.F55F	HCAR1_ENST00000432564.1_Silent_p.F55F|HCAR1_ENST00000356987.2_Silent_p.F55F			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	55					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N56fs*6(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CGGCCAAATTGAAAAGGTAAA	0.527																																						uc001ucz.2		NaN																	1	Insertion - Frameshift(1)	p.N56fs*6(1)	breast(1)		0						c.(163-165)TTC>TTT		G protein-coupled receptor 81							92.0	85.0	87.0					12																	123214722		2203	4300	6503	SO:0001819	synonymous_variant	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214722G>A	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.165C>T	12.37:g.123214722G>A						GPR81_uc001ucw.1_RNA	p.F55F	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)	1	408	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		55			Helical; Name=2; (Potential).		B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Silent	SNP	ENST00000436083.2	37	c.165C>T	CCDS9236.1																																																																																				0.527	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1				16	11	0	0	0	0.004007	0	16	11		
SETD8	387893	broad.mit.edu	37	12	123868753	123868753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:123868753G>A	ENST00000402868.3	+	1	434	c.8G>A	c.(7-9)aGa>aAa	p.R3K	SETD8_ENST00000330479.4_Missense_Mutation_p.R3K			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	46					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		GCCATGGCTAGAGGTATTTGC	0.662																																						uc001uew.2		NaN																	0					0						c.(7-9)AGA>AAA		SET domain-containing 8							36.0	35.0	36.0					12																	123868753		2203	4300	6503	SO:0001583	missense	387893				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	g.chr12:123868753G>A	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.8G>A	12.37:g.123868753G>A	ENSP00000384629:p.Arg3Lys					SETD8_uc001uex.2_5'UTR	p.R3K	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	1	50	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	ENST00000402868.3	37	c.8G>A	CCDS9247.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971355	0.53614	.	.	ENSG00000183955	ENST00000402868;ENST00000330479	D;D	0.98280	-4.84;-4.84	4.88	4.88	0.63580	.	0.556823	0.14709	N	0.303095	D	0.96191	0.8758	N	0.08118	0	0.28150	N	0.929437	P	0.47910	0.902	D	0.63033	0.91	D	0.87947	0.2721	10	0.05620	T	0.96	-0.1535	13.7109	0.62667	0.0:0.0:1.0:0.0	.	3	Q9NQR1-2	.	K	3	ENSP00000384629:R3K;ENSP00000332995:R3K	ENSP00000332995:R3K	R	+	2	0	SETD8	122434706	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	2.973000	0.49264	2.676000	0.91093	0.655000	0.94253	AGA		0.662	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1		NM_020382		5	12	0	0	0	0.000602	0	5	12		
DDX55	57696	broad.mit.edu	37	12	124104609	124104609	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:124104609G>T	ENST00000238146.4	+	14	1775	c.1725G>T	c.(1723-1725)gaG>gaT	p.E575D	DDX55_ENST00000538744.1_Missense_Mutation_p.E544D|DDX55_ENST00000421670.3_Missense_Mutation_p.E182D	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	575						membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AAGAATTTGAGAAGGGCTTGT	0.393																																						uc001ufi.2		NaN																	0				ovary(1)	1						c.(1723-1725)GAG>GAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							100.0	100.0	100.0					12																	124104609		2203	4300	6503	SO:0001583	missense	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124104609G>T	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1725G>T	12.37:g.124104609G>T	ENSP00000238146:p.Glu575Asp					DDX55_uc001ufk.2_Missense_Mutation_p.E428D|DDX55_uc001ufl.2_Missense_Mutation_p.E182D	p.E575D	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	14	1749	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		575					Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	c.1725G>T	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453308	0.26161	.	.	ENSG00000111364	ENST00000238146;ENST00000538744;ENST00000421670	T;T;T	0.38887	4.09;3.85;1.11	5.85	5.85	0.93711	.	1.244050	0.05300	N	0.522892	T	0.39436	0.1078	L	0.33293	1	0.54753	D	0.999986	B	0.13594	0.008	B	0.15052	0.012	T	0.38908	-0.9639	10	0.06494	T	0.89	-22.4961	20.1649	0.98147	0.0:0.0:1.0:0.0	.	575	Q8NHQ9	DDX55_HUMAN	D	575;544;182	ENSP00000238146:E575D;ENSP00000443114:E544D;ENSP00000442332:E182D	ENSP00000238146:E575D	E	+	3	2	DDX55	122670562	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.926000	0.56491	2.753000	0.94483	0.655000	0.94253	GAG		0.393	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2				21	90	1	0	1.40151e-16	0.010504	1.47563e-16	21	90		
NCOR2	9612	broad.mit.edu	37	12	124979754	124979754	+	Missense_Mutation	SNP	G	G	A	rs374998878		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:124979754G>A	ENST00000405201.1	-	1	44	c.44C>T	c.(43-45)aCt>aTt	p.T15I	NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000356219.3_Missense_Mutation_p.T15I|NCOR2_ENST00000397355.1_Missense_Mutation_p.T15I|NCOR2_ENST00000429285.2_Missense_Mutation_p.T15I|NCOR2_ENST00000404621.1_Missense_Mutation_p.T15I			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	15					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGGGCTCAGTGGCCCTCCA	0.642																																						uc010tba.1		NaN																	0				skin(3)|ovary(1)	4						c.(43-45)ACT>ATT		nuclear receptor co-repressor 2 isoform 2		G	ILE/THR,ILE/THR,ILE/THR	0,3986		0,0,1993	37.0	43.0	41.0		44,44,44	5.3	0.1	12		41	1,8299		0,1,4149	no	missense,missense,missense	NCOR2	NM_006312.5,NM_001206654.1,NM_001077261.3	89,89,89	0,1,6142	AA,AG,GG		0.012,0.0,0.0081	benign,benign,benign	15/2515,15/2505,15/2459	124979754	1,12285	1993	4150	6143	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124979754G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.44C>T	12.37:g.124979754G>A	ENSP00000384018:p.Thr15Ile					NCOR2_uc010tay.1_Missense_Mutation_p.T15I|NCOR2_uc010taz.1_Missense_Mutation_p.T15I|NCOR2_uc010tbb.1_Missense_Mutation_p.T15I|NCOR2_uc010tbc.1_Missense_Mutation_p.T15I|NCOR2_uc001ugj.1_Missense_Mutation_p.T15I|NCOR2_uc001ugk.1_Missense_Mutation_p.T15I	p.T15I	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	1	161	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		15					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.44C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446507	0.25987	0.0	1.2E-4	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698	T;T;T;T;T;T	0.33216	2.17;2.44;2.18;2.44;2.44;1.42	5.28	5.28	0.74379	.	0.460180	0.22971	N	0.053425	T	0.23846	0.0577	N	0.22421	0.69	0.39801	D	0.972569	B;B;B	0.25441	0.01;0.077;0.126	B;B;B	0.26864	0.014;0.034;0.074	T	0.09487	-1.0672	10	0.87932	D	0	-0.7963	13.4395	0.61104	0.0:0.1578:0.8422:0.0	.	15;15;15	C9J0Q5;C9J239;C9JFD3	.;.;.	I	15	ENSP00000384018:T15I;ENSP00000384202:T15I;ENSP00000348551:T15I;ENSP00000380513:T15I;ENSP00000400281:T15I;ENSP00000402808:T15I	ENSP00000348551:T15I	T	-	2	0	NCOR2	123545707	0.669000	0.27502	0.103000	0.21229	0.790000	0.44656	3.687000	0.54692	2.451000	0.82905	0.561000	0.74099	ACT		0.642	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312		7	34	0	0	0	0.00308	0	7	34		
UBC	7316	broad.mit.edu	37	12	125398075	125398075	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:125398075C>T	ENST00000538617.1	-	3	559	c.243G>A	c.(241-243)gtG>gtA	p.V81V	UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536769.1_Silent_p.V81V|UBC_ENST00000339647.5_Silent_p.V81V|UBC_ENST00000546120.1_Silent_p.V81V			P0CG48	UBC_HUMAN	ubiquitin C	461	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGTGTCTTCACGAAGATTT	0.542																																						uc001ugs.3		NaN																	0				ovary(2)	2						c.(241-243)GTG>GTA		ubiquitin C							211.0	191.0	198.0					12																	125398075		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125398075C>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.243G>A	12.37:g.125398075C>T						UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.V81V|UBC_uc001ugt.2_Silent_p.V81V|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Intron	p.V81V	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	691	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		81			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.243G>A																																																																																					0.542	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1		NM_021009		110	169	0	0	0	0.01441	0	110	169		
MMP17	4326	broad.mit.edu	37	12	132322757	132322757	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:132322757C>T	ENST00000360564.1	+	2	279	c.177C>T	c.(175-177)ttC>ttT	p.F59F	MMP17_ENST00000535291.1_5'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	59					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	TAAGCAGGTTCGGTTACCTGC	0.642																																						uc001ujc.1		NaN																	0					0						c.(175-177)TTC>TTT		matrix metalloproteinase 17 preproprotein							24.0	27.0	26.0					12																	132322757		2202	4297	6499	SO:0001819	synonymous_variant	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132322757C>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.177C>T	12.37:g.132322757C>T						MMP17_uc001ujd.1_5'UTR	p.F59F	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	2	276	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		59					Q14850	Silent	SNP	ENST00000360564.1	37	c.177C>T	CCDS31927.1																																																																																				0.642	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1		NM_016155		18	19	0	0	0	0.010504	0	18	19		
ULK1	8408	broad.mit.edu	37	12	132380364	132380364	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:132380364T>C	ENST00000321867.4	+	3	592	c.241T>C	c.(241-243)Ttc>Ctc	p.F81L		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCTGTACGACTTCCAGGTAAG	0.617																																						uc001uje.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(241-243)TTC>CTC		Unc-51-like kinase 1							81.0	67.0	71.0					12																	132380364		2203	4300	6503	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132380364T>C	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.241T>C	12.37:g.132380364T>C	ENSP00000324560:p.Phe81Leu						p.F81L	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	3	509	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		81			Protein kinase.		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.241T>C	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504345	0.64410	.	.	ENSG00000177169	ENST00000321867	T	0.63913	-0.07	4.73	3.55	0.40652	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44159	0.1280	N	0.11154	0.105	0.80722	D	1	P	0.41420	0.749	B	0.44044	0.439	T	0.19484	-1.0304	10	0.17832	T	0.49	-31.4091	11.4265	0.50014	0.0:0.0:0.1517:0.8483	.	81	O75385	ULK1_HUMAN	L	81	ENSP00000324560:F81L	ENSP00000324560:F81L	F	+	1	0	ULK1	130946317	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	2.934000	0.48956	0.747000	0.32809	0.445000	0.29226	TTC		0.617	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3				7	57	0	0	0	0.004482	0	7	57		
POLE	5426	broad.mit.edu	37	12	133226443	133226443	+	Silent	SNP	C	C	T	rs560825851		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:133226443C>T	ENST00000320574.5	-	30	3658	c.3615G>A	c.(3613-3615)ccG>ccA	p.P1205P	POLE_ENST00000535270.1_Silent_p.P1178P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1205					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CACTTGGCCTCGGACTGTCTT	0.587								DNA polymerases (catalytic subunits)					c|||	1	0.000199681	0.0	0.0	5008	,	,		20109	0.001		0.0	False		,,,				2504	0.0					uc001uks.1		NaN																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(3613-3615)CCG>CCA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							47.0	44.0	45.0					12																	133226443		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133226443C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3615G>A	12.37:g.133226443C>T						POLE_uc001ukr.1_Silent_p.P9P|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.P1178P	p.P1205P	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	30	3659	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1205					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.3615G>A	CCDS9278.1																																																																																				0.587	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2		NM_006231		11	34	0	0	0	0.008291	0	11	34		
PGAM5	192111	broad.mit.edu	37	12	133294683	133294683	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:133294683C>T	ENST00000498926.2	+	5	754	c.696C>T	c.(694-696)aaC>aaT	p.N232N	PGAM5_ENST00000454808.2_Silent_p.N83N|PGAM5_ENST00000541034.1_3'UTR|PGAM5_ENST00000317555.2_Silent_p.N232N|PGAM5_ENST00000543955.1_Silent_p.N83N|PXMP2_ENST00000545677.1_3'UTR	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	232					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GTCACGCCAACGTCATCCGCT	0.562																																						uc009zyv.2		NaN																	0					0						c.(694-696)AAC>AAT		phosphoglycerate mutase family member 5							89.0	73.0	78.0					12																	133294683		2203	4298	6501	SO:0001819	synonymous_variant	192111					integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity	g.chr12:133294683C>T	BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.696C>T	12.37:g.133294683C>T						PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Silent_p.N232N	p.N232N	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)	5	723	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		232					A9LN06|C9IZY7|Q96JB0	Silent	SNP	ENST00000498926.2	37	c.696C>T	CCDS53845.1																																																																																				0.562	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1		NM_138575		10	53	0	0	0	0.008291	0	10	53		
MPHOSPH8	54737	broad.mit.edu	37	13	20208066	20208066	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:20208066G>C	ENST00000361479.5	+	1	246	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E60Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	60	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GGATGTGTTCGAGGTGGAGAA	0.657																																						uc001umh.2		NaN																	0					0						c.(178-180)GAG>CAG		M-phase phosphoprotein 8							46.0	39.0	41.0					13																	20208066		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20208066G>C	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.178G>C	13.37:g.20208066G>C	ENSP00000355388:p.Glu60Gln					MPHOSPH8_uc001umf.1_Missense_Mutation_p.E60Q|MPHOSPH8_uc001umg.2_Missense_Mutation_p.E60Q	p.E60Q	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	1	187	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	60			Chromo.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.178G>C	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285218	0.95517	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.74421	-0.84;-0.84	4.59	4.59	0.56863	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.279255	0.39083	N	0.001478	D	0.87321	0.6148	M	0.83953	2.67	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89367	0.3672	10	0.87932	D	0	.	17.943	0.89031	0.0:0.0:1.0:0.0	.	60;60;60	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	Q	60	ENSP00000414663:E60Q;ENSP00000355388:E60Q	ENSP00000355388:E60Q	E	+	1	0	MPHOSPH8	19106066	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.665000	0.74442	2.543000	0.85770	0.561000	0.74099	GAG		0.657	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2		NM_017520		3	5	0	0	0	0.004672	0	3	5		
ZMYM5	9205	broad.mit.edu	37	13	20425496	20425496	+	Splice_Site	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:20425496A>G	ENST00000337963.4	-	4	849	c.585T>C	c.(583-585)ccT>ccC	p.P195P	ZMYM5_ENST00000382905.4_Splice_Site_p.P195P|ZMYM5_ENST00000382907.4_Splice_Site_p.P195P	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	195						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACTGCTTACCAGGACTATGAT	0.383																																						uc010tcn.1		NaN																	0					0						c.(583-585)CCT>CCC		zinc finger protein 237 isoform 3							122.0	117.0	119.0					13																	20425496		2203	4300	6503	SO:0001630	splice_region_variant	9205					nucleus	zinc ion binding	g.chr13:20425496A>G	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.586+1T>C	13.37:g.20425496A>G						ZMYM5_uc001umm.1_Silent_p.P19P|ZMYM5_uc001umn.2_Silent_p.P195P|ZMYM5_uc001umo.2_Silent_p.P195P	p.P195P	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	4	850	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	195					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Silent	SNP	ENST00000337963.4	37	c.585T>C																																																																																					0.383	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_014242	Silent	20	78	0	0	0	0.007413	0	20	78		
XPO4	64328	broad.mit.edu	37	13	21371070	21371070	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:21371070C>T	ENST00000255305.6	-	17	2520	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	XPO4_ENST00000400602.2_Missense_Mutation_p.E817K			Q9C0E2	XPO4_HUMAN	exportin 4	817					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGGGTAGCCTCAGCAATGCCA	0.428																																						uc001unq.3		NaN																	0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(2449-2451)GAG>AAG		exportin 4							62.0	59.0	60.0					13																	21371070		1880	4117	5997	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21371070C>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2449G>A	13.37:g.21371070C>T	ENSP00000255305:p.Glu817Lys						p.E817K	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	17	2485	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	817					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.2449G>A	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430548	0.62844	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.64085	-0.08;-0.08	5.68	5.68	0.88126	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	N	0.17474	0.49	0.80722	D	1	B	0.22276	0.067	B	0.22601	0.04	T	0.37103	-0.9720	10	0.25751	T	0.34	-7.8895	20.1595	0.98130	0.0:1.0:0.0:0.0	.	817	Q9C0E2	XPO4_HUMAN	K	817;687;817	ENSP00000383444:E817K;ENSP00000255305:E817K	ENSP00000255305:E817K	E	-	1	0	XPO4	20269070	1.000000	0.71417	0.936000	0.37596	0.932000	0.56968	7.401000	0.79962	2.847000	0.97988	0.591000	0.81541	GAG		0.428	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1		NM_022459		18	68	0	0	0	0.007413	0	18	68		
MRPL57	78988	broad.mit.edu	37	13	21751241	21751241	+	Silent	SNP	C	C	T	rs371867311		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:21751241C>T	ENST00000309594.4	+	2	264	c.186C>T	c.(184-186)caC>caT	p.H62H	SKA3_ENST00000400018.3_5'Flank|SKA3_ENST00000314759.5_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		62					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.H62Q(1)		kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		AGCGCGGCCACGCCGCGGTGC	0.642																																						uc001unw.2		NaN																	1	Substitution - Missense(1)		kidney(1)		0						c.(184-186)CAC>CAT		mitochondrial ribosomal protein 63		C		0,4406		0,0,2203	36.0	36.0	36.0		186	2.2	0.0	13		36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MRP63	NM_024026.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		62/103	21751241	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	78988							g.chr13:21751241C>T																												ENST00000309594.4:c.186C>T	13.37:g.21751241C>T						SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank	p.H62H	NM_024026	NP_076931	Q9BQC6	RT63_HUMAN		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)	2	676	+		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	62					A2A332	Silent	SNP	ENST00000309594.4	37	c.186C>T	CCDS9296.1																																																																																				0.642	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044105.2				5	25	0	0	0	0.001168	0	5	25		
UBL3	5412	broad.mit.edu	37	13	30341760	30341760	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:30341760G>C	ENST00000380680.4	-	4	1441	c.296C>G	c.(295-297)tCt>tGt	p.S99C		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	99						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		CTTACCTTGAGAGTTTGGCTC	0.408																																						uc001usp.2		NaN																	0					0						c.(295-297)TCT>TGT		ubiquitin-like 3 precursor							158.0	133.0	142.0					13																	30341760		2203	4300	6503	SO:0001583	missense	5412					intracellular|plasma membrane		g.chr13:30341760G>C	AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.296C>G	13.37:g.30341760G>C	ENSP00000370055:p.Ser99Cys						p.S99C	NM_007106	NP_009037	O95164	UBL3_HUMAN		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)	4	1441	-		Lung SC(185;0.0281)	99					B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	ENST00000380680.4	37	c.296C>G	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722535	0.89298	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.84515	0.0624	9	0.87932	D	0	-13.8037	19.2859	0.94069	0.0:0.0:1.0:0.0	.	99	O95164	UBL3_HUMAN	C	99	.	ENSP00000370055:S99C	S	-	2	0	UBL3	29239760	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.040000	0.93783	2.873000	0.98535	0.563000	0.77884	TCT		0.408	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1		NM_007106		36	39	0	0	0	0.004878	0	36	39		
USPL1	10208	broad.mit.edu	37	13	31211905	31211905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:31211905C>T	ENST00000255304.4	+	5	1235	c.893C>T	c.(892-894)tCa>tTa	p.S298L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	298	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAACTTACCTCAGAAATATTT	0.348																																					Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2		NaN																	0				pancreas(2)|skin(1)	3						c.(892-894)TCA>TTA		ubiquitin specific peptidase like 1							96.0	101.0	100.0					13																	31211905		2203	4299	6502	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31211905C>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.893C>T	13.37:g.31211905C>T	ENSP00000255304:p.Ser298Leu					USPL1_uc001utb.2_Missense_Mutation_p.S117L|USPL1_uc001utd.2_5'UTR|USPL1_uc001ute.1_5'UTR	p.S298L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	5	1325	+		Lung SC(185;0.0257)|Breast(139;0.203)	298					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.893C>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245748	0.39697	.	.	ENSG00000132952	ENST00000255304	T	0.02606	4.23	5.57	4.71	0.59529	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.932727	0.09210	N	0.833438	T	0.05090	0.0136	M	0.69823	2.125	0.09310	N	1	P	0.40431	0.717	B	0.33454	0.164	T	0.38200	-0.9672	10	0.87932	D	0	-7.9637	9.305	0.37870	0.1437:0.7816:0.0:0.0747	.	298	Q5W0Q7	USPL1_HUMAN	L	298	ENSP00000255304:S298L	ENSP00000255304:S298L	S	+	2	0	USPL1	30109905	0.333000	0.24731	0.006000	0.13384	0.333000	0.28666	0.450000	0.21762	1.294000	0.44707	0.655000	0.94253	TCA		0.348	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1		NM_005800		33	85	0	0	0	0.009535	0	33	85		
N4BP2L2	10443	broad.mit.edu	37	13	33018001	33018001	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:33018001T>C	ENST00000504114.1	-	6	719	c.628A>G	c.(628-630)Aaa>Gaa	p.K210E	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.K210E|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.K225E			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTCCATCTTTTTTCTTTATAT	0.343																																						uc010abe.1		NaN																	0					0						c.(673-675)AAA>GAA		phosphonoformate immuno-associated protein 5							61.0	56.0	57.0					13																	33018001		1814	4068	5882	SO:0001583	missense	10443							g.chr13:33018001T>C	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.628A>G	13.37:g.33018001T>C	ENSP00000427477:p.Lys210Glu					N4BP2L2_uc001uug.2_Missense_Mutation_p.K108E|N4BP2L2_uc010abd.1_Missense_Mutation_p.K138E|N4BP2L2_uc001uuh.2_Missense_Mutation_p.K56E|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.K210E	p.K225E	NM_033111	NP_149102	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	695	-		Lung SC(185;0.0262)	Error:Variant_position_missing_in_Q92802_after_alignment					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.673A>G		.	.	.	.	.	.	.	.	.	.	T	4.628	0.116694	0.08881	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000505213	T	0.42131	0.98	5.24	-0.849	0.10723	.	1.373960	0.04586	N	0.395798	T	0.17408	0.0418	N	0.03177	-0.4	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.001;0.001;0.003;0.002	T	0.24297	-1.0164	10	0.02654	T	1	-1.4573	7.8777	0.29603	0.0:0.1436:0.5941:0.2623	.	210;225;108;108	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	E	108;137;210;210;225;654	ENSP00000423362:K654E	ENSP00000350104:K210E	K	-	1	0	N4BP2L2;RP11-298P3.4	31916001	0.000000	0.05858	0.005000	0.12908	0.177000	0.22998	0.023000	0.13533	-0.163000	0.10946	0.533000	0.62120	AAA		0.343	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1		NM_014887		4	8	0	0	0	0.009096	0	4	8		
DCLK1	9201	broad.mit.edu	37	13	36686315	36686315	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:36686315C>G	ENST00000360631.3	-	3	625	c.414G>C	c.(412-414)aaG>aaC	p.K138N	DCLK1_ENST00000379892.4_Missense_Mutation_p.K138N|DCLK1_ENST00000255448.4_Missense_Mutation_p.K138N			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	138	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACTCCAGTTTCTTGAAGGGCT	0.433																																						uc001uvf.2		NaN																	0				stomach(6)|ovary(2)|skin(1)	9						c.(412-414)AAG>AAC		doublecortin-like kinase 1							53.0	54.0	54.0					13																	36686315		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686315C>G	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.414G>C	13.37:g.36686315C>G	ENSP00000353846:p.Lys138Asn						p.K138N	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	3	647	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	138			Doublecortin 1.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.414G>C		.	.	.	.	.	.	.	.	.	.	C	16.84	3.233616	0.58886	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.94650	-3.48;-3.48;-3.48	5.59	2.46	0.29980	.	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	M	0.92026	3.265	0.58432	D	0.99999	P	0.46457	0.878	P	0.56474	0.799	D	0.96047	0.9028	10	0.87932	D	0	.	8.9918	0.36028	0.0:0.663:0.0:0.337	.	138	O15075-2	.	N	138	ENSP00000255448:K138N;ENSP00000353846:K138N;ENSP00000369222:K138N	ENSP00000255448:K138N	K	-	3	2	DCLK1	35584315	0.972000	0.33761	1.000000	0.80357	0.980000	0.70556	0.194000	0.17135	0.847000	0.35167	-0.145000	0.13849	AAG		0.433	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1		NM_004734		26	54	0	0	0	0.005443	0	26	54		
SPG20	23111	broad.mit.edu	37	13	36909157	36909157	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:36909157C>G	ENST00000451493.1	-	2	1028		c.e2+1		SPG20_ENST00000438666.2_Splice_Site|SPG20_ENST00000494062.2_Splice_Site|SPG20_ENST00000355182.4_Splice_Site|SPG20_ENST00000495510.1_Splice_Site	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)						abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTTTCGCTTACCTGAAGAAAC	0.378																																						uc001uvn.2		NaN																	0					0						c.e3+1		spartin							81.0	88.0	86.0					13																	36909157		2203	4299	6502	SO:0001630	splice_region_variant	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909157C>G	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.810+1G>C	13.37:g.36909157C>G						SPG20_uc010ten.1_Intron|SPG20_uc001uvm.2_Splice_Site_p.Q270_splice|SPG20_uc001uvo.2_Splice_Site_p.Q270_splice|SPG20_uc001uvq.2_Splice_Site_p.Q270_splice|SPG20_uc001uvp.2_Splice_Site_p.Q270_splice	p.Q270_splice	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	3	1080	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)						O60349|Q86Y67|Q9H1T2|Q9H1T3	Splice_Site	SNP	ENST00000451493.1	37	c.810_splice	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983823	0.74474	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1064	0.97896	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPG20	35807157	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.123000	0.77176	2.745000	0.94114	0.650000	0.86243	.		0.378	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			Intron	39	65	0	0	0	0.009718	0	39	65		
TSC22D1	8848	broad.mit.edu	37	13	45147906	45147906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:45147906G>A	ENST00000458659.2	-	1	2795	c.2305C>T	c.(2305-2307)Caa>Taa	p.Q769*	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	769	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ATCCCAGTTTGAGCAGGTGGA	0.493																																						uc001uzn.3		NaN																	0					0						c.(2305-2307)CAA>TAA		TSC22 domain family, member 1 isoform 1							88.0	87.0	87.0					13																	45147906		2203	4300	6503	SO:0001587	stop_gained	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45147906G>A	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2305C>T	13.37:g.45147906G>A	ENSP00000397435:p.Gln769*					TSC22D1_uc001uzo.1_Intron	p.Q769*	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2796	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	769			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Nonsense_Mutation	SNP	ENST00000458659.2	37	c.2305C>T	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	44	10.864469	0.99480	.	.	ENSG00000102804	ENST00000458659	.	.	.	4.77	4.77	0.60923	.	0.248100	0.28465	N	0.015247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	16.9514	0.86246	0.0:0.0:1.0:0.0	.	.	.	.	X	769	.	ENSP00000397435:Q769X	Q	-	1	0	TSC22D1	44045906	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	3.238000	0.51352	2.470000	0.83445	0.462000	0.41574	CAA		0.493	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2		NM_006022		19	62	0	0	0	0.006122	0	19	62		
TSC22D1	8848	broad.mit.edu	37	13	45149590	45149590	+	Silent	SNP	C	C	T	rs371261364		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:45149590C>T	ENST00000458659.2	-	1	1111	c.621G>A	c.(619-621)caG>caA	p.Q207Q	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Silent_p.Q207Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	207	His-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCACAACATTCTGTTGTGGAA	0.527																																						uc001uzn.3		NaN																	0					0						c.(619-621)CAG>CAA		TSC22 domain family, member 1 isoform 1							101.0	77.0	85.0					13																	45149590		2203	4300	6503	SO:0001819	synonymous_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149590C>T	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.621G>A	13.37:g.45149590C>T						TSC22D1_uc001uzo.1_Silent_p.Q207Q	p.Q207Q	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1112	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	207			His-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	c.621G>A	CCDS31966.1																																																																																				0.527	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2		NM_006022		22	19	0	0	0	0.014323	0	22	19		
KCTD4	386618	broad.mit.edu	37	13	45768414	45768414	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:45768414C>T	ENST00000379108.1	-	1	438	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	KCTD4_ENST00000405872.1_Missense_Mutation_p.E97K|GTF2F2_ENST00000340473.6_Intron			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	97	BTB.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		AATAGAAGTTCTCCATTTCGT	0.443																																						uc001uzx.3		NaN																	0					0						c.(289-291)GAA>AAA		potassium channel tetramerisation domain							117.0	114.0	115.0					13																	45768414		2203	4300	6503	SO:0001583	missense	386618					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr13:45768414C>T	BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 4"""				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.289G>A	13.37:g.45768414C>T	ENSP00000368402:p.Glu97Lys					GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	p.E97K	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)	2	693	-		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	97			BTB.		Q5W0P9	Missense_Mutation	SNP	ENST00000379108.1	37	c.289G>A	CCDS9396.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970459	0.53614	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.75154	-0.91;-0.91	5.96	5.96	0.96718	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	N	0.03194	-0.395	0.80722	D	1	P	0.42123	0.771	P	0.51657	0.676	T	0.65319	-0.6197	10	0.18276	T	0.48	.	19.3895	0.94574	0.0:1.0:0.0:0.0	.	97	Q8WVF5	KCTD4_HUMAN	K	97	ENSP00000368402:E97K;ENSP00000385144:E97K	ENSP00000368402:E97K	E	-	1	0	KCTD4	44666414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.798000	0.85924	2.833000	0.97629	0.591000	0.81541	GAA		0.443	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1				86	127	0	0	0	0.01441	0	86	127		
LCP1	3936	broad.mit.edu	37	13	46701847	46701847	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:46701847G>C	ENST00000398576.2	-	19	2151	c.1763C>G	c.(1762-1764)tCt>tGt	p.S588C	LCP1_ENST00000323076.2_Missense_Mutation_p.S588C|LCP1_ENST00000435666.2_Missense_Mutation_p.S157C			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	588	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)	p.S588F(1)		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)		TCGGGCCATAGAGATGGCATA	0.493			T	BCL6	NHL																																	uc001vaz.3		NaN		Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		1	Substitution - Missense(1)		breast(1)	lung(4)|ovary(3)	7						c.(1762-1764)TCT>TGT		L-plastin							143.0	138.0	139.0					13																	46701847		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.chr13:46701847G>C	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.1763C>G	13.37:g.46701847G>C	ENSP00000381581:p.Ser588Cys					LCP1_uc010ack.2_Missense_Mutation_p.S157C|LCP1_uc001vay.3_Missense_Mutation_p.S185C|LCP1_uc001vba.3_Missense_Mutation_p.S588C	p.S588C	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	16	1889	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	588			Actin-binding 2.|CH 4.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1763C>G	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789668	0.90367	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.95377	-3.69;-3.69;-3.69	5.54	5.54	0.83059	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.974;0.999	D	0.99289	1.0898	10	0.87932	D	0	-14.243	18.8301	0.92135	0.0:0.0:1.0:0.0	.	157;588	B4DUA0;P13796	.;PLSL_HUMAN	C	588;588;157	ENSP00000315757:S588C;ENSP00000381581:S588C;ENSP00000405134:S157C	ENSP00000315757:S588C	S	-	2	0	LCP1	45599848	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.813000	0.99286	2.764000	0.94973	0.655000	0.94253	TCT		0.493	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3		NM_002298		59	36	0	0	0	0.01441	0	59	36		
LPAR6	10161	broad.mit.edu	37	13	48985612	48985612	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:48985612G>A	ENST00000378434.4	-	7	2572	c.948C>T	c.(946-948)ttC>ttT	p.F316F	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Silent_p.F316F	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GAACTTCAGAGAATCTGAAGT	0.338																																						uc010acu.2		NaN																	19	Whole gene deletion(15)|Unknown(4)	p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	ovary(4)	4						c.(946-948)TTC>TTT		G-protein coupled purinergic receptor P2Y5							77.0	82.0	80.0					13																	48985612		2203	4300	6503	SO:0001819	synonymous_variant	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48985612G>A	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.948C>T	13.37:g.48985612G>A						RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Silent_p.F316F|LPAR6_uc001vcf.2_Silent_p.F316F	p.F316F	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN			1	2042	-			316			Cytoplasmic (Potential).		A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Silent	SNP	ENST00000378434.4	37	c.948C>T	CCDS9410.1																																																																																				0.338	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2		NM_005767		46	61	0	0	0	0.011902	0	46	61		
RCBTB2	1102	broad.mit.edu	37	13	49085972	49085972	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:49085972G>A	ENST00000344532.3	-	9	1140	c.717C>T	c.(715-717)ctC>ctT	p.L239L	RCBTB2_ENST00000481144.1_5'Flank|RCBTB2_ENST00000430805.2_Silent_p.L244L|RCBTB2_ENST00000544904.1_Silent_p.L215L|RCBTB2_ENST00000544492.1_Missense_Mutation_p.S13L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	239					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACTGTTGCCGAGTCCAAGCT	0.527																																						uc001vch.2		NaN																	0				ovary(2)|lung(2)|skin(1)	5						c.(715-717)CTC>CTT		regulator of chromosome condensation and BTB							91.0	81.0	84.0					13																	49085972		2203	4300	6503	SO:0001819	synonymous_variant	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49085972G>A	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.717C>T	13.37:g.49085972G>A						RCBTB2_uc010tgg.1_Silent_p.L244L|RCBTB2_uc001vci.2_Silent_p.L215L|RCBTB2_uc010tgh.1_Missense_Mutation_p.S13L|RCBTB2_uc001vcj.2_Silent_p.L243L|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Silent_p.L215L	p.L239L	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	9	1088	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	239			RCC1 4.		B2RDW8	Silent	SNP	ENST00000344532.3	37	c.717C>T	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	G	7.174	0.588251	0.13812	.	.	ENSG00000136161	ENST00000544492	T	0.76448	-1.02	5.98	-8.64	0.00874	.	.	.	.	.	T	0.53029	0.1771	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07849	-1.0751	7	.	.	.	.	5.8987	0.18953	0.1636:0.472:0.2859:0.0786	.	13	B4E372	.	L	13	ENSP00000443862:S13L	.	S	-	2	0	RCBTB2	47983973	0.979000	0.34478	0.944000	0.38274	0.404000	0.30871	0.293000	0.19029	-1.082000	0.03101	-0.383000	0.06682	TCG		0.527	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2		NM_001268		12	31	0	0	0	0.013537	0	12	31		
ATP7B	540	broad.mit.edu	37	13	52548420	52548420	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:52548420C>T	ENST00000242839.4	-	2	1092	c.936G>A	c.(934-936)caG>caA	p.Q312Q	ATP7B_ENST00000542656.1_Silent_p.Q280Q|ATP7B_ENST00000344297.5_Silent_p.Q312Q|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.Q312Q|ATP7B_ENST00000400370.3_Silent_p.Q312Q|ATP7B_ENST00000448424.2_Silent_p.Q312Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	312	HMA 3. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CGATAGCCCTCTGCAGAGCCA	0.502									Wilson disease																													uc001vfw.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(934-936)CAG>CAA		ATPase, Cu++ transporting, beta polypeptide							87.0	89.0	88.0					13																	52548420		1896	4098	5994	SO:0001819	synonymous_variant	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548420C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.936G>A	13.37:g.52548420C>T						ATP7B_uc010adv.2_Silent_p.Q312Q|ATP7B_uc001vfx.2_Silent_p.Q312Q|ATP7B_uc001vfy.2_Intron|ATP7B_uc010tgt.1_Silent_p.Q312Q|ATP7B_uc010tgu.1_Silent_p.Q312Q|ATP7B_uc010tgv.1_Silent_p.Q312Q|ATP7B_uc010tgw.1_Silent_p.Q280Q	p.Q312Q	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	1093	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	312			HMA 3.|Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.936G>A	CCDS41892.1																																																																																				0.502	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1		NM_000053		29	65	0	0	0	0.008361	0	29	65		
OLFM4	10562	broad.mit.edu	37	13	53624514	53624514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:53624514C>G	ENST00000219022.2	+	5	1219	c.1141C>G	c.(1141-1143)Caa>Gaa	p.Q381E		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	381	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TGTTGCTTGGCAAGATATTGA	0.413																																						uc001vhl.2		NaN																	0				skin(1)	1						c.(1141-1143)CAA>GAA		olfactomedin 4 precursor							217.0	215.0	216.0					13																	53624514		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624514C>G	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1141C>G	13.37:g.53624514C>G	ENSP00000219022:p.Gln381Glu					OLFM4_uc001vhk.1_3'UTR	p.Q381E	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1141	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	381			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.1141C>G	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738334	0.69304	.	.	ENSG00000102837	ENST00000219022	D	0.89123	-2.47	5.92	5.03	0.67393	Olfactomedin-like (3);	0.167878	0.56097	D	0.000030	D	0.90580	0.7047	M	0.70595	2.14	0.43207	D	0.995063	P	0.41041	0.736	P	0.46026	0.501	D	0.90724	0.4637	10	0.51188	T	0.08	.	16.5936	0.84789	0.0:0.87:0.13:0.0	.	381	Q6UX06	OLFM4_HUMAN	E	381	ENSP00000219022:Q381E	ENSP00000219022:Q381E	Q	+	1	0	OLFM4	52522515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.092000	0.50207	2.801000	0.96364	0.650000	0.86243	CAA		0.413	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2		NM_006418		57	149	0	0	0	0.01441	0	57	149		
PCDH17	27253	broad.mit.edu	37	13	58208221	58208221	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:58208221C>T	ENST00000377918.3	+	1	1567	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S514L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCCTGCCCTCGCACATCGGC	0.592																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1540-1542)TCG>TTG		protocadherin 17 precursor							47.0	46.0	46.0					13																	58208221		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208221C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1541C>T	13.37:g.58208221C>T	ENSP00000367151:p.Ser514Leu					PCDH17_uc010aec.1_Missense_Mutation_p.S514L	p.S514L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2433	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	514			Extracellular (Potential).|Cadherin 5.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1541C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553128	0.65425	.	.	ENSG00000118946	ENST00000377918	T	0.52526	0.66	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.105411	0.64402	D	0.000002	T	0.65893	0.2735	M	0.73430	2.235	0.58432	D	0.999991	D;D	0.69078	0.996;0.997	P;P	0.61397	0.883;0.888	T	0.65768	-0.6088	9	.	.	.	.	15.7959	0.78409	0.0:0.8265:0.1735:0.0	.	514;514	O14917-2;O14917	.;PCD17_HUMAN	L	514	ENSP00000367151:S514L	.	S	+	2	0	PCDH17	57106222	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	5.162000	0.64942	2.740000	0.93945	0.561000	0.74099	TCG		0.592	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1		NM_001040429		23	19	0	0	0	0.00333	0	23	19		
PCDH20	64881	broad.mit.edu	37	13	61985735	61985735	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:61985735G>A	ENST00000409186.1	-	5	4602	c.2497C>T	c.(2497-2499)Ctc>Ttc	p.L833F	PCDH20_ENST00000409204.4_Missense_Mutation_p.L833F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	833	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTGGAGTGGAGAGGCTCGGGA	0.413																																						uc001vid.3		NaN																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(2497-2499)CTC>TTC		protocadherin 20							121.0	115.0	117.0					13																	61985735		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985735G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2497C>T	13.37:g.61985735G>A	ENSP00000386653:p.Leu833Phe					PCDH20_uc010thj.1_Missense_Mutation_p.L833F	p.L833F	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2861	-		Breast(118;0.195)|Prostate(109;0.229)	806			Cadherin 6.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2497C>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672211	0.67928	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.55760	0.5;0.5	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000035	T	0.78916	0.4359	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81409	-0.0946	10	0.66056	D	0.02	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	833	A8K1K9	.	F	833;833;579	ENSP00000387250:L833F;ENSP00000386653:L833F	ENSP00000351500:L579F	L	-	1	0	PCDH20	60883736	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.497000	0.97970	2.770000	0.95276	0.655000	0.94253	CTC		0.413	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2		NM_022843		33	50	0	0	0	0.010818	0	33	50		
DACH1	1602	broad.mit.edu	37	13	72134058	72134058	+	Silent	SNP	G	G	T	rs534663252		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:72134058G>T	ENST00000359684.2	-	6	1490	c.1491C>A	c.(1489-1491)gcC>gcA	p.A497A	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000305425.4_Silent_p.A445A|DACH1_ENST00000354591.4_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	497					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCAGAGAGGGGGCAGGTGAGG	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16899	0.0		0.0	False		,,,				2504	0.0					uc010thn.1		NaN																	0				breast(1)	1						c.(1327-1329)GCC>GCA		dachshund homolog 1 isoform a							28.0	31.0	30.0					13																	72134058		1990	4162	6152	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72134058G>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1491C>A	13.37:g.72134058G>T						DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	p.A443A	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	6	1752	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	495					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1329C>A																																																																																					0.542	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1		NM_004392		5	13	1	0	0.00116845	0.001168	0.00118816	5	13		
KCTD12	115207	broad.mit.edu	37	13	77459558	77459558	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:77459558C>T	ENST00000377474.2	-	1	967	c.726G>A	c.(724-726)acG>acA	p.T242T	KCTD12_ENST00000317765.2_Silent_p.T242T|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	242					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		TGGCCAGCGACGTCTTTCCGC	0.647											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010aeu.1		NaN																	0				ovary(1)	1						c.(724-726)ACG>ACA		potassium channel tetramerisation domain							32.0	28.0	29.0					13																	77459558		2203	4300	6503	SO:0001819	synonymous_variant	115207					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr13:77459558C>T	AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"""predominantly fetal expressed T1 domain"""	610521	"""chromosome 13 open reading frame 2"", ""potassium channel tetramerisation domain containing 12"""	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.726G>A	13.37:g.77459558C>T			OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1175	KCTD12_uc001vka.1_Silent_p.T242T	p.T242T	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN		GBM - Glioblastoma multiforme(99;0.0499)	1	983	-		Breast(118;0.212)	242						Silent	SNP	ENST00000377474.2	37	c.726G>A	CCDS9455.1																																																																																				0.647	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2		NM_138444		8	2	0	0	0	0.004482	0	8	2		
MYCBP2	23077	broad.mit.edu	37	13	77651516	77651516	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:77651516G>A	ENST00000544440.2	-	67	11394	c.11377C>T	c.(11377-11379)Ctg>Ttg	p.L3793L	MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2_ENST00000407578.2_Silent_p.L3831L|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Silent_p.L3793L|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGGAATCCAGATCAACCTGG	0.423																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(11377-11379)CTG>TTG		MYC binding protein 2							77.0	77.0	77.0					13																	77651516		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77651516G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11377C>T	13.37:g.77651516G>A						MYCBP2_uc010aev.2_Silent_p.L3197L|MYCBP2_uc001vke.2_Silent_p.L413L	p.L3793L	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	68	11468	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3793			DOC.			Silent	SNP	ENST00000544440.2	37	c.11377C>T		.	.	.	.	.	.	.	.	.	.	G	7.537	0.659974	0.14645	.	.	ENSG00000005810	ENST00000429715	.	.	.	4.91	2.1	0.27182	.	.	.	.	.	T	0.53334	0.1790	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40496	-0.9560	4	.	.	.	.	5.4828	0.16733	0.3723:0.1371:0.4906:0.0	.	.	.	.	F	216	.	.	S	-	2	0	MYCBP2	76549517	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	2.245000	0.43133	0.167000	0.19631	0.460000	0.39030	TCT		0.423	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		21	25	0	0	0	0.010504	0	21	25		
GPC6	10082	broad.mit.edu	37	13	93879803	93879803	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:93879803G>A	ENST00000377047.4	+	1	709	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	32					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GAGCTGCGGAGAGGTCCGCCA	0.672											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001vlt.2		NaN																	0					0						c.(94-96)GAG>AAG		glypican 6 precursor							71.0	70.0	70.0					13																	93879803		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93879803G>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.94G>A	13.37:g.93879803G>A	ENSP00000366246:p.Glu32Lys		OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1301	GPC6_uc010tig.1_Missense_Mutation_p.E32K	p.E32K	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			1	726	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	32					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.94G>A	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262739	0.95399	.	.	ENSG00000183098	ENST00000377047	T	0.56444	0.46	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000024	T	0.70736	0.3258	M	0.75615	2.305	0.41886	D	0.990342	D;P	0.54964	0.969;0.884	P;P	0.60345	0.873;0.643	T	0.69522	-0.5123	10	0.39692	T	0.17	.	19.2868	0.94082	0.0:0.0:1.0:0.0	.	32;32	B4E2M1;Q9Y625	.;GPC6_HUMAN	K	32	ENSP00000366246:E32K	ENSP00000366246:E32K	E	+	1	0	GPC6	92677804	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.165000	0.77544	2.660000	0.90430	0.655000	0.94253	GAG		0.672	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4		NM_005708		8	15	0	0	0	0.004482	0	8	15		
ATP11A	23250	broad.mit.edu	37	13	113508799	113508799	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:113508799C>T	ENST00000487903.1	+	19	2286	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	ATP11A_ENST00000375630.2_Missense_Mutation_p.T733M|ATP11A_ENST00000283558.8_Missense_Mutation_p.T733M|ATP11A_ENST00000375645.3_Missense_Mutation_p.T733M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	733					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGAGCAAGACGGTCCTGCGC	0.657																																						uc001vsi.3		NaN																	0				large_intestine(2)|ovary(2)	4						c.(2197-2199)ACG>ATG		ATPase, class VI, type 11A isoform a							53.0	50.0	51.0					13																	113508799		2199	4299	6498	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113508799C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2198C>T	13.37:g.113508799C>T	ENSP00000420387:p.Thr733Met					ATP11A_uc001vsj.3_Missense_Mutation_p.T733M|ATP11A_uc001vsm.1_Missense_Mutation_p.T609M|ATP11A_uc010ago.2_RNA	p.T733M	NM_015205	NP_056020	P98196	AT11A_HUMAN			19	2286	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	733			Cytoplasmic (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.2198C>T	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.41|19.41	3.822990|3.822990	0.71028|0.71028	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	.|T;T;T;T	.|0.81247	.|-1.47;-1.47;-1.47;-1.47	4.7|4.7	4.7|4.7	0.59300|0.59300	.|HAD-like domain (1);	.|0.093386	.|0.64402	.|D	.|0.000001	D|D	0.83968|0.83968	0.5369|0.5369	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.998;0.997	.|D;D;P	.|0.71414	.|0.973;0.946;0.879	D|D	0.85068|0.85068	0.0938|0.0938	5|10	.|0.46703	.|T	.|0.11	.|.	17.6532|17.6532	0.88170|0.88170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|733;733;733	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	W|M	708|733;733;733;733;174	.|ENSP00000420387:T733M;ENSP00000364781:T733M;ENSP00000364796:T733M;ENSP00000283558:T733M	.|ENSP00000283558:T733M	R|T	+|+	1|2	2|0	ATP11A|ATP11A	112556800|112556800	0.998000|0.998000	0.40836|0.40836	0.902000|0.902000	0.35471|0.35471	0.361000|0.361000	0.29550|0.29550	3.544000|3.544000	0.53640|0.53640	2.152000|2.152000	0.67230|0.67230	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.657	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3		NM_015205		13	11	0	0	0	0.001855	0	13	11		
LAMP1	3916	broad.mit.edu	37	13	113976673	113976673	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:113976673C>T	ENST00000332556.4	+	9	1385	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	LAMP1_ENST00000471046.1_3'UTR|LAMP1_ENST00000397181.3_Silent_p.L344L	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	397					autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GGCTGGTCCTCATCGTCCTCA	0.627																																						uc001vtm.1		NaN																	0				central_nervous_system(2)	2						c.(1189-1191)CTC>CTT		lysosomal-associated membrane protein 1							67.0	81.0	77.0					13																	113976673		2155	4253	6408	SO:0001819	synonymous_variant	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113976673C>T	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.1191C>T	13.37:g.113976673C>T						LAMP1_uc010tka.1_Silent_p.L344L	p.L397L	NM_005561	NP_005552	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		9	1472	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	397			Helical; (Potential).		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Silent	SNP	ENST00000332556.4	37	c.1191C>T	CCDS41909.1																																																																																				0.627	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2				30	15	0	0	0	0.013726	0	30	15		
CCNB1IP1	57820	broad.mit.edu	37	14	20781943	20781943	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:20781943G>C	ENST00000398169.3	-	6	931	c.315C>G	c.(313-315)ctC>ctG	p.L105L	CCNB1IP1_ENST00000398163.2_Silent_p.L105L|CCNB1IP1_ENST00000398160.2_Silent_p.L105L|CCNB1IP1_ENST00000358932.4_Silent_p.L105L|CCNB1IP1_ENST00000353689.4_Silent_p.L105L|CCNB1IP1_ENST00000437553.2_Silent_p.L105L			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	105					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		ATTCTTGATAGAGACGTTCCT	0.338			T	HMGA2	leiomyoma																																	uc001vwv.2		NaN		Dom	yes		14	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				soft_tissue(2)|ovary(1)	3						c.(313-315)CTC>CTG		cyclin B1 interacting protein 1 isoform 3							40.0	38.0	39.0					14																	20781943		2203	4298	6501	SO:0001819	synonymous_variant	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20781943G>C	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.315C>G	14.37:g.20781943G>C						CCNB1IP1_uc001vww.2_Silent_p.L105L|CCNB1IP1_uc001vwx.2_Silent_p.L105L|CCNB1IP1_uc001vwy.2_Silent_p.L105L|CCNB1IP1_uc001vwz.2_Silent_p.L105L	p.L105L	NM_182851	NP_878271	Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	6	964	-	all_cancers(95;0.00092)	all_lung(585;0.235)	105						Silent	SNP	ENST00000398169.3	37	c.315C>G	CCDS9547.1																																																																																				0.338	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3		NM_021178, NM_182849, NM_182851, NM_182852		11	37	0	0	0	0.010729	0	11	37		
OSGEP	55644	broad.mit.edu	37	14	20916914	20916914	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:20916914G>A	ENST00000206542.4	-	6	1035	c.614C>T	c.(613-615)tCa>tTa	p.S205L	OSGEP_ENST00000554249.1_Missense_Mutation_p.S23L|RP11-203M5.7_ENST00000555435.1_RNA|OSGEP_ENST00000555656.1_Missense_Mutation_p.S6L	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase											endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		CAGGATCCCTGAGAATGAGAC	0.438																																						uc001vxf.2		NaN																	0					0						c.(613-615)TCA>TTA		O-sialoglycoprotein endopeptidase							145.0	113.0	124.0					14																	20916914		2203	4300	6503	SO:0001583	missense	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20916914G>A	AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.614C>T	14.37:g.20916914G>A	ENSP00000206542:p.Ser205Leu						p.S205L	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	6	970	-	all_cancers(95;0.00123)	all_lung(585;0.235)	205						Missense_Mutation	SNP	ENST00000206542.4	37	c.614C>T	CCDS9549.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663251	0.96745	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249;ENST00000555223;ENST00000555785	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.93	5.93	0.95920	Peptidase M22, glycoprotease (1);	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	H	0.98577	4.27	0.80722	D	1	P	0.47350	0.894	P	0.51974	0.686	D	0.85797	0.1371	10	0.87932	D	0	-14.4349	19.1113	0.93317	0.0:0.0:1.0:0.0	.	205	Q9NPF4	OSGEP_HUMAN	L	6;205;23;23;6	ENSP00000451784:S6L;ENSP00000206542:S205L;ENSP00000451548:S23L;ENSP00000450464:S23L;ENSP00000451787:S6L	ENSP00000206542:S205L	S	-	2	0	OSGEP	19986754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.950000	0.93019	2.811000	0.96726	0.557000	0.71058	TCA		0.438	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3		NM_017807		16	42	0	0	0	0.007413	0	16	42		
ARHGEF40	55701	broad.mit.edu	37	14	21549964	21549964	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:21549964G>T	ENST00000298694.4	+	14	3064	c.2937G>T	c.(2935-2937)caG>caT	p.Q979H	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.Q979H			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	979						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GAGGGGCCCAGTGGGGGCCCC	0.711																																						uc001vzp.2		NaN																	0					0						c.(2935-2937)CAG>CAT		hypothetical protein LOC55701							7.0	10.0	9.0					14																	21549964		2169	4205	6374	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21549964G>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2937G>T	14.37:g.21549964G>T	ENSP00000298694:p.Gln979His					FLJ10357_uc001vzo.1_Missense_Mutation_p.Q58H|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.Q265H	p.Q979H	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	14	2966	+	all_cancers(95;0.00185)		979					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.2937G>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	4.104	0.017334	0.07959	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02525	4.33;4.26	5.84	-6.26	0.02033	.	1.176840	0.06200	N	0.683119	T	0.01421	0.0046	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.49072	-0.8977	10	0.13853	T	0.58	.	2.4189	0.04443	0.2164:0.4254:0.1548:0.2034	.	979;979;265	Q8TER5-4;Q8TER5;Q8TER5-2	.;ARH40_HUMAN;.	H	979	ENSP00000298694:Q979H;ENSP00000298693:Q979H	ENSP00000298693:Q979H	Q	+	3	2	ARHGEF40	20619804	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.147000	0.16202	-0.748000	0.04753	-0.181000	0.13052	CAG		0.711	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1				5	1	1	0	0.000602214	0.000602	0.000613236	5	1		
HNRNPC	3183	broad.mit.edu	37	14	21699232	21699232	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:21699232C>T	ENST00000320084.7	-	3	481		c.e3-1		HNRNPC_ENST00000556897.1_Splice_Site|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000556142.1_Splice_Site|HNRNPC_ENST00000420743.2_Splice_Site|HNRNPC_ENST00000556513.1_Splice_Site|HNRNPC_ENST00000555883.1_Splice_Site|HNRNPC_ENST00000553300.1_Splice_Site|HNRNPC_ENST00000555914.1_Splice_Site|HNRNPC_ENST00000430246.2_Splice_Site|HNRNPC_ENST00000557201.1_Splice_Site|HNRNPC_ENST00000449098.1_Splice_Site|HNRNPC_ENST00000554455.1_Splice_Site|HNRNPC_ENST00000336053.6_Splice_Site|HNRNPC_ENST00000553753.1_Splice_Site|HNRNPC_ENST00000555309.1_Splice_Site|HNRNPC_ENST00000554969.1_Splice_Site	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)						3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		AGGTTAATATCTGAAAAACAA	0.383																																					NSCLC(108;607 2244 12726 38757)	uc001vzy.2		NaN																	0					0						c.e4-1		heterogeneous nuclear ribonucleoprotein C							58.0	61.0	60.0					14																	21699232		2194	4286	6480	SO:0001630	splice_region_variant	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21699232C>T		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.242-1G>A	14.37:g.21699232C>T						HNRNPC_uc001vzw.2_Splice_Site_p.D81_splice|HNRNPC_uc001wad.2_Intron|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Splice_Site_p.D81_splice|HNRNPC_uc001waa.2_Splice_Site_p.D81_splice|HNRNPC_uc010ail.2_Splice_Site_p.D81_splice|HNRNPC_uc010tlq.1_Splice_Site|HNRNPC_uc001wab.2_Splice_Site_p.D81_splice|HNRNPC_uc001wac.2_Splice_Site_p.D81_splice|HNRNPC_uc010tlr.1_5'Flank|HNRNPC_uc001waf.2_Splice_Site_p.D81_splice|HNRNPC_uc001wae.2_Splice_Site_p.D81_splice	p.D81_splice	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	4	486	-	all_cancers(95;0.00176)							D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Splice_Site	SNP	ENST00000320084.7	37	c.242_splice	CCDS41915.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247840	0.80024	.	.	ENSG00000092199	ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000556142;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000452166;ENST00000555883;ENST00000556513;ENST00000557201;ENST00000553300;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554383;ENST00000555215;ENST00000555137;ENST00000554891;ENST00000556226;ENST00000555176	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6804	0.91545	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HNRNPC	20769072	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.586000	0.74067	2.709000	0.92574	0.591000	0.81541	.		0.383	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			Intron	19	39	0	0	0	0.007413	0	19	39		
CHD8	57680	broad.mit.edu	37	14	21862166	21862166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:21862166C>T	ENST00000557364.1	-	32	6051	c.5788G>A	c.(5788-5790)Gat>Aat	p.D1930N	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.D1651N|CHD8_ENST00000399982.2_Missense_Mutation_p.D1930N			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1930					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGCTCCCCATCATGCCGAACA	0.552																																						uc001was.1		NaN																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(4951-4953)GAT>AAT		chromodomain helicase DNA binding protein 8							47.0	48.0	48.0					14																	21862166		1923	4130	6053	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21862166C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5788G>A	14.37:g.21862166C>T	ENSP00000451601:p.Asp1930Asn					CHD8_uc001war.1_Missense_Mutation_p.D1547N|SNORD9_uc001wat.1_5'Flank	p.D1651N	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	32	5045	-	all_cancers(95;0.00121)		1930					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4951G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479823	0.84747	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.90788	-2.73;-2.73;-2.73	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.95639	0.8582	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95899	0.8913	10	0.87932	D	0	-21.5181	17.7958	0.88570	0.0:1.0:0.0:0.0	.	1651	Q9HCK8-2	.	N	1651;1930;1650;1930	ENSP00000406288:D1651N;ENSP00000382863:D1930N;ENSP00000451601:D1930N	ENSP00000262707:D1650N	D	-	1	0	CHD8	20932006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.739000	0.93911	0.563000	0.77884	GAT		0.552	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1		NM_020920		14	20	0	0	0	0.001855	0	14	20		
METTL3	56339	broad.mit.edu	37	14	21967731	21967731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:21967731C>T	ENST00000298717.4	-	8	1508	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	453					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ATAATTTCATCTACCCGTTCA	0.423																																						uc001wbc.2		NaN																	0				pancreas(1)|skin(1)	2						c.(1357-1359)GAT>AAT		methyltransferase like 3							116.0	110.0	112.0					14																	21967731		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21967731C>T	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1357G>A	14.37:g.21967731C>T	ENSP00000298717:p.Asp453Asn					METTL3_uc001wbb.2_Missense_Mutation_p.D298N	p.D453N	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	8	1449	-	all_cancers(95;0.000628)		453					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.1357G>A	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161967	0.94727	.	.	ENSG00000165819	ENST00000298717	T	0.39787	1.06	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	L	0.46157	1.445	0.80722	D	1	P	0.49696	0.927	P	0.51777	0.679	T	0.46527	-0.9185	10	0.46703	T	0.11	-5.6705	17.016	0.86419	0.0:1.0:0.0:0.0	.	453	Q86U44	MTA70_HUMAN	N	453	ENSP00000298717:D453N	ENSP00000298717:D453N	D	-	1	0	METTL3	21037571	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.024000	0.76443	2.559000	0.86315	0.460000	0.39030	GAT		0.423	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1		NM_019852		31	76	0	0	0	0.008361	0	31	76		
MYH7	4625	broad.mit.edu	37	14	23887435	23887435	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:23887435C>T	ENST00000355349.3	-	30	4315	c.4153G>A	c.(4153-4155)Gag>Aag	p.E1385K	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1385					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCGAGCTCCTCAGTCCGC	0.637																																						uc001wjx.2		NaN																	0				ovary(3)|skin(1)	4						c.(4153-4155)GAG>AAG		myosin, heavy chain 7, cardiac muscle, beta							87.0	86.0	87.0					14																	23887435		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887435C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4153G>A	14.37:g.23887435C>T	ENSP00000347507:p.Glu1385Lys					MIR208B_hsa-mir-208b|MI0005570_5'Flank	p.E1385K	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4259	-	all_cancers(95;2.54e-05)		1385			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4153G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196547	0.94960	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83591	-1.74	4.83	4.83	0.62350	Myosin tail (1);	.	.	.	.	D	0.93035	0.7783	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.94505	0.7713	9	0.87932	D	0	.	18.1069	0.89523	0.0:1.0:0.0:0.0	.	1385	P12883	MYH7_HUMAN	K	1385;1390	ENSP00000347507:E1385K	ENSP00000347507:E1385K	E	-	1	0	MYH7	22957275	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.364000	0.79526	2.520000	0.84964	0.655000	0.94253	GAG		0.637	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257		18	46	0	0	0	0.006122	0	18	46		
AP1G2	8906	broad.mit.edu	37	14	24036487	24036487	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24036487C>T	ENST00000308724.5	-	1	792	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	AP1G2_ENST00000397120.3_Missense_Mutation_p.E13K|AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	13					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGAATCTCTTCGATGAGGTCC	0.637											OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wkl.2		NaN																	0				ovary(1)	1						c.(37-39)GAA>AAA		adaptor-related protein complex 1, gamma 2							47.0	39.0	41.0					14																	24036487		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24036487C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.37G>A	14.37:g.24036487C>T	ENSP00000312442:p.Glu13Lys		OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_5'UTR|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_RNA|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.E13K|AP1G2_uc010aks.2_5'UTR|AP1G2_uc010akt.2_5'UTR|AP1G2_uc010tnq.1_RNA	p.E13K	NM_003917	NP_003908	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	2	374	-	all_cancers(95;0.000251)		13					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.37G>A	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744659	0.49151	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189;ENST00000556843	T;T;T	0.26518	2.53;2.53;1.73	4.09	2.06	0.26882	Armadillo-like helical (1);	0.212089	0.42053	D	0.000763	T	0.09202	0.0227	N	0.01705	-0.755	0.80722	D	1	B	0.22746	0.074	B	0.17979	0.02	T	0.15093	-1.0449	10	0.24483	T	0.36	-10.984	11.2828	0.49206	0.0:0.463:0.537:0.0	.	13	O75843	AP1G2_HUMAN	K	13	ENSP00000312442:E13K;ENSP00000380309:E13K;ENSP00000452153:E13K	ENSP00000312442:E13K	E	-	1	0	AP1G2	23106327	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.380000	0.52448	1.053000	0.40415	0.436000	0.28706	GAA		0.637	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4		NM_003917		5	14	0	0	0	0.001168	0	5	14		
LRRC16B	90668	broad.mit.edu	37	14	24528595	24528595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24528595G>A	ENST00000342740.5	+	21	1897	c.1743G>A	c.(1741-1743)atG>atA	p.M581I	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	581						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCAATGGCATGGAGGACATCG	0.642																																						uc001wlj.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1741-1743)ATG>ATA		leucine rich repeat containing 16B							67.0	53.0	58.0					14																	24528595		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24528595G>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1743G>A	14.37:g.24528595G>A	ENSP00000340467:p.Met581Ile					LRRC16B_uc001wlk.2_5'Flank	p.M581I	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	21	1900	+			581					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.1743G>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940418	0.52972	.	.	ENSG00000186648	ENST00000342740	T	0.39229	1.09	5.04	5.04	0.67666	.	0.102221	0.64402	D	0.000006	T	0.27594	0.0678	N	0.16903	0.455	0.80722	D	1	P	0.38504	0.634	B	0.36134	0.218	T	0.05683	-1.0870	10	0.19590	T	0.45	-9.7608	15.9259	0.79615	0.0:0.0:1.0:0.0	.	581	Q8ND23	LR16B_HUMAN	I	581	ENSP00000340467:M581I	ENSP00000340467:M581I	M	+	3	0	LRRC16B	23598435	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	6.321000	0.72881	2.616000	0.88540	0.555000	0.69702	ATG		0.642	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1		NM_138360		7	10	0	0	0	0.00308	0	7	10		
LRRC16B	90668	broad.mit.edu	37	14	24532014	24532014	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24532014G>A	ENST00000342740.5	+	29	2819	c.2665G>A	c.(2665-2667)Gac>Aac	p.D889N	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	889						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCGGAACCATGACCATGAGGA	0.627																																						uc001wlj.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2665-2667)GAC>AAC		leucine rich repeat containing 16B							113.0	123.0	120.0					14																	24532014		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24532014G>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2665G>A	14.37:g.24532014G>A	ENSP00000340467:p.Asp889Asn					LRRC16B_uc001wlk.2_5'UTR	p.D889N	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	29	2822	+			889					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2665G>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166367	0.57476	.	.	ENSG00000186648	ENST00000342740	T	0.14766	2.48	5.37	5.37	0.77165	.	0.135740	0.34178	N	0.004189	T	0.08358	0.0208	N	0.16478	0.41	0.80722	D	1	P	0.40000	0.698	B	0.34138	0.176	T	0.39210	-0.9625	10	0.20519	T	0.43	-6.2153	14.6064	0.68481	0.0:0.0:1.0:0.0	.	889	Q8ND23	LR16B_HUMAN	N	889	ENSP00000340467:D889N	ENSP00000340467:D889N	D	+	1	0	LRRC16B	23601854	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.066000	0.64351	2.513000	0.84729	0.561000	0.74099	GAC		0.627	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1		NM_138360		7	39	0	0	0	0.004482	0	7	39		
RNF31	55072	broad.mit.edu	37	14	24617580	24617580	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24617580G>A	ENST00000324103.6	+	3	773	c.453G>A	c.(451-453)ctG>ctA	p.L151L	RNF31_ENST00000382687.3_5'Flank|PSME2_ENST00000560410.1_5'Flank|PSME2_ENST00000216802.5_5'Flank|RNF31_ENST00000559275.1_5'UTR|PSME2_ENST00000471700.2_5'Flank|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000557878.1_3'UTR	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	151	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CAGTCACACTGGAAGTACTGC	0.557																																						uc001wmn.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(451-453)CTG>CTA		ring finger protein 31							61.0	65.0	64.0					14																	24617580		2096	4212	6308	SO:0001819	synonymous_variant	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24617580G>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.453G>A	14.37:g.24617580G>A						PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_5'UTR|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	p.L151L	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	3	702	+			151			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	c.453G>A	CCDS41931.1																																																																																				0.557	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3		NM_017999		14	16	0	0	0	0.004007	0	14	16		
REC8	9985	broad.mit.edu	37	14	24641766	24641766	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24641766T>A	ENST00000311457.3	+	2	604	c.5T>A	c.(4-6)tTc>tAc	p.F2Y	REC8_ENST00000559919.1_Missense_Mutation_p.F2Y			O95072	REC8_HUMAN	REC8 meiotic recombination protein	2					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GGGACAATGTTCTACTATCCC	0.592																																					NSCLC(139;1764 2537 12868 49041)	uc001wmr.2		NaN																	0					0						c.(4-6)TTC>TAC		REC8 homolog							41.0	44.0	43.0					14																	24641766		2023	4173	6196	SO:0001583	missense	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24641766T>A	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.5T>A	14.37:g.24641766T>A	ENSP00000308699:p.Phe2Tyr					REC8_uc001wms.2_Missense_Mutation_p.F2Y	p.F2Y	NM_005132	NP_005123	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	2	432	+			2					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Missense_Mutation	SNP	ENST00000311457.3	37	c.5T>A	CCDS41932.1	.	.	.	.	.	.	.	.	.	.	T	34	5.298836	0.95574	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.38887	1.11	5.01	5.01	0.66863	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.91717	3.235	0.45439	D	0.998414	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.995	T	0.77210	-0.2671	10	0.87932	D	0	-21.3171	12.3334	0.55051	0.0:0.0:0.0:1.0	.	2;2	O95072-2;O95072	.;REC8_HUMAN	Y	2	ENSP00000308699:F2Y	ENSP00000308699:F2Y	F	+	2	0	REC8	23711606	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.533000	0.67160	2.099000	0.63709	0.459000	0.35465	TTC		0.592	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3		NM_005132		9	7	0	0	0	0.010729	0	9	7		
IPO4	79711	broad.mit.edu	37	14	24656644	24656644	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24656644G>C	ENST00000354464.6	-	6	726	c.550C>G	c.(550-552)Ctg>Gtg	p.L184V	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	184					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ATGGTGGTCAGAGTGCGCAGG	0.577																																						uc001wmv.1		NaN																	0				kidney(1)	1						c.(550-552)CTG>GTG		importin 4							70.0	82.0	78.0					14																	24656644		2114	4240	6354	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24656644G>C	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.550C>G	14.37:g.24656644G>C	ENSP00000346453:p.Leu184Val					IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Missense_Mutation_p.L48V|IPO4_uc001wmy.1_Missense_Mutation_p.L48V|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.L184V	p.L184V	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	6	681	-			184					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.550C>G	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624887	0.46840	.	.	ENSG00000196497	ENST00000354464	T	0.10668	2.85	5.23	4.35	0.52113	Armadillo-like helical (1);Armadillo-type fold (1);	0.076253	0.53938	D	0.000048	T	0.11196	0.0273	L	0.54323	1.7	0.53688	D	0.999977	B	0.12630	0.006	B	0.17433	0.018	T	0.08106	-1.0738	10	0.14656	T	0.56	-11.1365	11.5912	0.50947	0.0855:0.0:0.9145:0.0	.	184	Q8TEX9	IPO4_HUMAN	V	184	ENSP00000346453:L184V	ENSP00000346453:L184V	L	-	1	2	IPO4	23726484	1.000000	0.71417	0.833000	0.33012	0.959000	0.62525	4.574000	0.60900	1.437000	0.47472	0.655000	0.94253	CTG		0.577	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4		NM_024658		16	64	0	0	0	0.006122	0	16	64		
IPO4	79711	broad.mit.edu	37	14	24656660	24656660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24656660G>C	ENST00000354464.6	-	6	710	c.534C>G	c.(532-534)ttC>ttG	p.F178L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	178					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCAGGGAGTAGAAGAGCAGCC	0.592																																						uc001wmv.1		NaN																	0				kidney(1)	1						c.(532-534)TTC>TTG		importin 4							71.0	84.0	80.0					14																	24656660		2101	4229	6330	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24656660G>C	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.534C>G	14.37:g.24656660G>C	ENSP00000346453:p.Phe178Leu					IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Missense_Mutation_p.F42L|IPO4_uc001wmy.1_Missense_Mutation_p.F42L|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.F178L	p.F178L	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	6	665	-			178					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.534C>G	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946073	0.53079	.	.	ENSG00000196497	ENST00000354464	T	0.03831	3.79	5.23	3.42	0.39159	Armadillo-like helical (1);Armadillo-type fold (1);	0.127462	0.56097	D	0.000038	T	0.04363	0.0120	L	0.29908	0.895	0.40987	D	0.984828	B	0.21753	0.06	B	0.23150	0.044	T	0.44097	-0.9350	10	0.34782	T	0.22	-20.7369	9.8441	0.41017	0.1655:0.0:0.8345:0.0	.	178	Q8TEX9	IPO4_HUMAN	L	178	ENSP00000346453:F178L	ENSP00000346453:F178L	F	-	3	2	IPO4	23726500	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.918000	0.40006	0.789000	0.33779	0.655000	0.94253	TTC		0.592	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4		NM_024658		16	64	0	0	0	0.004007	0	16	64		
IPO4	79711	broad.mit.edu	37	14	24656970	24656970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24656970G>T	ENST00000354464.6	-	5	487	c.311C>A	c.(310-312)tCa>tAa	p.S104*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	104					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AATGGTGGCTGAGAGCTGGGC	0.572																																						uc001wmv.1		NaN																	0				kidney(1)	1						c.(310-312)TCA>TAA		importin 4							39.0	45.0	43.0					14																	24656970		2036	4194	6230	SO:0001587	stop_gained	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24656970G>T	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.311C>A	14.37:g.24656970G>T	ENSP00000346453:p.Ser104*					IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Nonsense_Mutation_p.S104*	p.S104*	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	5	442	-			104					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Nonsense_Mutation	SNP	ENST00000354464.6	37	c.311C>A	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827949	0.90955	.	.	ENSG00000196497	ENST00000354464	.	.	.	5.38	4.49	0.54785	.	0.585221	0.17542	N	0.170489	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.116	9.8098	0.40815	0.0917:0.0:0.9083:0.0	.	.	.	.	X	104	.	ENSP00000346453:S104X	S	-	2	0	IPO4	23726810	0.782000	0.28689	0.924000	0.36721	0.773000	0.43773	1.803000	0.38863	1.494000	0.48533	0.655000	0.94253	TCA		0.572	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4		NM_024658		14	27	1	0	3.27435e-08	0.00245	3.38028e-08	14	27		
TGM1	7051	broad.mit.edu	37	14	24731453	24731453	+	Missense_Mutation	SNP	G	G	A	rs145197904	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24731453G>A	ENST00000206765.6	-	2	229	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	36	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCTCCTCTGCGAGAGCGTCCG	0.647																																						uc001wod.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(106-108)CGC>TGC		transglutaminase 1	L-Glutamine(DB00130)						64.0	58.0	60.0					14																	24731453		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24731453G>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.106C>T	14.37:g.24731453G>A	ENSP00000206765:p.Arg36Cys					TGM1_uc010tog.1_5'UTR	p.R36C	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	2	230	-			36			Membrane anchorage region.		B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.106C>T	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	9.339	1.062514	0.19987	.	.	ENSG00000092295	ENST00000206765	T	0.80994	-1.44	4.76	2.86	0.33363	.	2.375590	0.01635	N	0.023742	T	0.71609	0.3360	N	0.24115	0.695	0.20638	N	0.999874	D	0.53312	0.959	B	0.39258	0.295	T	0.64032	-0.6502	10	0.87932	D	0	-15.0925	9.7427	0.40429	0.0:0.0:0.624:0.376	.	36	P22735	TGM1_HUMAN	C	36	ENSP00000206765:R36C	ENSP00000206765:R36C	R	-	1	0	TGM1	23801293	0.016000	0.18221	0.008000	0.14137	0.311000	0.27955	0.475000	0.22164	0.569000	0.29329	0.561000	0.74099	CGC		0.647	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6		NM_000359		9	32	0	0	0	0.008291	0	9	32		
NOP9	161424	broad.mit.edu	37	14	24772312	24772312	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24772312C>T	ENST00000267425.3	+	6	1269	c.1176C>T	c.(1174-1176)gtC>gtT	p.V392V	NOP9_ENST00000396802.3_Silent_p.V392V	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	392							poly(A) RNA binding (GO:0044822)										TGAGCCCTGTCTTGGAAGCTG	0.552																																						uc001wol.1		NaN																	0				breast(2)|central_nervous_system(1)|skin(1)	4						c.(1174-1176)GTC>GTT		hypothetical protein LOC161424							89.0	82.0	84.0					14																	24772312		2203	4300	6503	SO:0001819	synonymous_variant	161424						RNA binding	g.chr14:24772312C>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1176C>T	14.37:g.24772312C>T						C14orf21_uc001wom.1_5'UTR	p.V392V	NM_174913	NP_777573	Q86U38	CN021_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	6	1239	+			392					A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	c.1176C>T	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	1.254	-0.617680	0.03663	.	.	ENSG00000196943	ENST00000557362	.	.	.	5.16	3.34	0.38264	.	.	.	.	.	T	0.45696	0.1355	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36720	-0.9736	4	.	.	.	-2.6169	2.2342	0.04004	0.1559:0.5236:0.1512:0.1694	.	.	.	.	F	18	.	.	S	+	2	0	C14orf21	23842152	0.923000	0.31300	0.996000	0.52242	0.076000	0.17211	0.329000	0.19698	0.760000	0.33108	-0.251000	0.11542	TCT		0.552	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2				21	51	0	0	0	0.012319	0	21	51		
NYNRIN	57523	broad.mit.edu	37	14	24883866	24883866	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24883866G>A	ENST00000382554.3	+	9	3229	c.2911G>A	c.(2911-2913)Gtc>Atc	p.V971I	NYNRIN_ENST00000554505.1_3'UTR	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	971					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTCAGCCAGTGTCACTGAGCT	0.557																																						uc001wpf.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2911-2913)GTC>ATC		hypothetical protein LOC57523							50.0	55.0	53.0					14																	24883866		2200	4279	6479	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24883866G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2911G>A	14.37:g.24883866G>A	ENSP00000371994:p.Val971Ile						p.V971I	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	3229	+			971					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.2911G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	6.424	0.446370	0.12223	.	.	ENSG00000205978	ENST00000382554	T	0.08193	3.12	4.27	-8.05	0.01106	.	.	.	.	.	T	0.01592	0.0051	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47898	-0.9081	9	0.02654	T	1	.	10.6395	0.45584	0.2027:0.0:0.6643:0.133	.	971	Q9P2P1	NYNRI_HUMAN	I	971	ENSP00000371994:V971I	ENSP00000371994:V971I	V	+	1	0	NYNRIN	23953706	0.000000	0.05858	0.000000	0.03702	0.729000	0.41735	-1.941000	0.01542	-1.167000	0.02779	0.313000	0.20887	GTC		0.557	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1				9	16	0	0	0	0.013537	0	9	16		
NYNRIN	57523	broad.mit.edu	37	14	24884334	24884334	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24884334G>A	ENST00000382554.3	+	9	3697	c.3379G>A	c.(3379-3381)Gac>Aac	p.D1127N		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1127					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCAGAAGCCTGACTGGCAGTG	0.622																																						uc001wpf.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3379-3381)GAC>AAC		hypothetical protein LOC57523							31.0	35.0	34.0					14																	24884334		2000	4162	6162	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884334G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3379G>A	14.37:g.24884334G>A	ENSP00000371994:p.Asp1127Asn						p.D1127N	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	3697	+			1127					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3379G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.293954	0.60086	.	.	ENSG00000205978	ENST00000382554	T	0.41758	0.99	3.76	3.76	0.43208	.	.	.	.	.	T	0.42562	0.1208	L	0.39633	1.23	0.26569	N	0.973597	D	0.58268	0.982	P	0.49637	0.617	T	0.24012	-1.0172	9	0.52906	T	0.07	.	11.3715	0.49702	0.0:0.0:1.0:0.0	.	1127	Q9P2P1	NYNRI_HUMAN	N	1127	ENSP00000371994:D1127N	ENSP00000371994:D1127N	D	+	1	0	NYNRIN	23954174	0.531000	0.26338	0.993000	0.49108	0.958000	0.62258	0.878000	0.28126	2.379000	0.81126	0.561000	0.74099	GAC		0.622	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1				12	14	0	0	0	0.010729	0	12	14		
NOVA1	4857	broad.mit.edu	37	14	27064680	27064680	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:27064680A>G	ENST00000344429.5	-	2	219	c.216T>C	c.(214-216)atT>atC	p.I72I	NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000547619.1_Silent_p.I72I|NOVA1_ENST00000465357.2_Silent_p.I72I|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000539517.2_Silent_p.I72I|NOVA1_ENST00000551754.1_5'Flank|NOVA1-AS1_ENST00000547786.1_RNA|NOVA1_ENST00000574031.1_Silent_p.I72I	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	72	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCAACTGAACAATTGTCTGTC	0.403																																						uc001wpy.2		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(214-216)ATT>ATC		neuro-oncological ventral antigen 1 isoform 1							157.0	146.0	150.0					14																	27064680		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:27064680A>G	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.216T>C	14.37:g.27064680A>G						NOVA1_uc001wpz.2_Silent_p.I72I|NOVA1_uc001wqa.2_5'UTR|NOVA1_uc001wqb.2_Silent_p.I72I	p.I72I	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	2	534	-			72			KH 1.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000344429.5	37	c.216T>C	CCDS9635.1																																																																																				0.403	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1		NM_006491		22	103	0	0	0	0.012319	0	22	103		
HECTD1	25831	broad.mit.edu	37	14	31602842	31602842	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:31602842C>G	ENST00000399332.1	-	23	4106	c.3618G>C	c.(3616-3618)gaG>gaC	p.E1206D	HECTD1_ENST00000553700.1_Missense_Mutation_p.E1206D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1206					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACCCTTGTTTCTCATCCTTTG	0.363																																						uc001wrc.1		NaN																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(3616-3618)GAG>GAC		HECT domain containing 1							166.0	145.0	152.0					14																	31602842		1861	4093	5954	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31602842C>G	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.3618G>C	14.37:g.31602842C>G	ENSP00000382269:p.Glu1206Asp					HECTD1_uc001wrd.1_Missense_Mutation_p.E721D	p.E1206D	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	23	4107	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1206					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.3618G>C	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.29|13.29	2.192682|2.192682	0.38707|0.38707	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957|ENST00000557369	T;T;T|T	0.29655|0.44881	1.56;1.56;1.56|0.91	5.45|5.45	4.5|4.5	0.54988|0.54988	Galactose-binding domain-like (1);Sad1/UNC-like, C-terminal (1);|.	0.000000|0.000000	0.64402|0.64402	U|U	0.000001|0.000001	T|T	0.28632|0.28632	0.0709|0.0709	N|N	0.16790|0.16790	0.44|0.44	0.58432|0.58432	D|D	0.999998|0.999998	B;D|.	0.57257|.	0.116;0.979|.	B;D|.	0.71414|.	0.095;0.973|.	T|T	0.07751|0.07751	-1.0756|-1.0756	10|7	0.23302|.	T|.	0.38|.	-10.743|-10.743	7.4982|7.4982	0.27503|0.27503	0.0:0.788:0.0:0.212|0.0:0.788:0.0:0.212	.|.	1206;1206|.	D3DS86;Q9ULT8|.	.;HECD1_HUMAN|.	D|Q	1206;1208;1206;680|37	ENSP00000450697:E1206D;ENSP00000382269:E1206D;ENSP00000451860:E680D|ENSP00000452233:E37Q	ENSP00000261312:E1208D|.	E|E	-|-	3|1	2|0	HECTD1|HECTD1	30672593|30672593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.743000|2.743000	0.47442|0.47442	1.155000|1.155000	0.42497|0.42497	0.650000|0.650000	0.86243|0.86243	GAG|GAA		0.363	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				15	51	0	0	0	0.00245	0	15	51		
FOXA1	3169	broad.mit.edu	37	14	38060825	38060825	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:38060825C>T	ENST00000250448.2	-	2	1225	c.1164G>A	c.(1162-1164)ctG>ctA	p.L388L	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Silent_p.L355L	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	388					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GGTCCCCTTTCAGGTGCAGCT	0.637																																						uc001wuf.2		NaN																	0					0						c.(1162-1164)CTG>CTA		forkhead box A1							62.0	45.0	51.0					14																	38060825		2203	4300	6503	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060825C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1164G>A	14.37:g.38060825C>T						FOXA1_uc010tpz.1_Silent_p.L355L	p.L388L	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1476	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		388					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.1164G>A	CCDS9665.1																																																																																				0.637	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1				3	9	0	0	0	0.004672	0	3	9		
LRFN5	145581	broad.mit.edu	37	14	42356993	42356993	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:42356993G>C	ENST00000298119.4	+	3	2354	c.1165G>C	c.(1165-1167)Gag>Cag	p.E389Q	LRFN5_ENST00000554120.1_Missense_Mutation_p.E389Q|LRFN5_ENST00000554171.1_Missense_Mutation_p.E389Q	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	389						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCATATCCATGAGCCTGATCC	0.378										HNSCC(30;0.082)																												uc001wvm.2		NaN																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1165-1167)GAG>CAG		leucine rich repeat and fibronectin type III							82.0	84.0	83.0					14																	42356993		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356993G>C	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1165G>C	14.37:g.42356993G>C	ENSP00000298119:p.Glu389Gln	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.E389Q	p.E389Q	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2363	+			389			Extracellular (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1165G>C	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669836	0.29693	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.52295	0.79;0.67;0.67	5.4	5.4	0.78164	.	0.000000	0.56097	D	0.000023	T	0.40196	0.1107	L	0.39245	1.2	0.80722	D	1	B;B	0.28208	0.203;0.125	B;B	0.29176	0.099;0.082	T	0.17899	-1.0354	10	0.12766	T	0.61	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	389;389	G3V364;Q96NI6	.;LRFN5_HUMAN	Q	389	ENSP00000298119:E389Q;ENSP00000451897:E389Q;ENSP00000451067:E389Q	ENSP00000298119:E389Q	E	+	1	0	LRFN5	41426743	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.785000	0.99042	2.680000	0.91292	0.563000	0.77884	GAG		0.378	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1		NM_152447		21	53	0	0	0	0.008871	0	21	53		
FAM179B	23116	broad.mit.edu	37	14	45468596	45468596	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:45468596C>G	ENST00000361577.3	+	3	2448	c.2234C>G	c.(2233-2235)tCt>tGt	p.S745C	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.S745C|FAM179B_ENST00000361462.2_Missense_Mutation_p.S745C	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	745										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACAAATCTTTCTGGGAAATGT	0.353																																						uc001wvv.2		NaN																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(2233-2235)TCT>TGT		hypothetical protein LOC23116							103.0	105.0	104.0					14																	45468596		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45468596C>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2234C>G	14.37:g.45468596C>G	ENSP00000355045:p.Ser745Cys					FAM179B_uc001wvw.2_Missense_Mutation_p.S745C|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Missense_Mutation_p.S745C	p.S745C	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			3	2443	+			745					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.2234C>G	CCDS9681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.71|18.71	3.682860|3.682860	0.68157|0.68157	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000557250|ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	.|T;T;T	.|0.34667	.|2.57;2.57;1.35	5.32|5.32	4.42|4.42	0.53409|0.53409	.|Armadillo-type fold (1);	.|0.536053	.|0.18088	.|N	.|0.152067	T|T	0.37019|0.37019	0.0988|0.0988	N|N	0.24115|0.24115	0.695|0.695	0.30716|0.30716	N|N	0.748795|0.748795	.|D;D;D	.|0.60575	.|0.988;0.988;0.988	.|P;P;P	.|0.55161	.|0.708;0.77;0.708	T|T	0.28038|0.28038	-1.0056|-1.0056	5|10	.|0.56958	.|D	.|0.05	-0.6886|-0.6886	11.3608|11.3608	0.49642|0.49642	0.0:0.9148:0.0:0.0852|0.0:0.9148:0.0:0.0852	.|.	.|745;745;745	.|G3XAE9;Q9Y4F4;Q9Y4F4-2	.|.;F179B_HUMAN;.	V|C	39|745;745;745;745;64	.|ENSP00000355045:S745C;ENSP00000354917:S745C;ENSP00000371668:S745C	.|ENSP00000354917:S745C	L|S	+|+	1|2	2|0	FAM179B|FAM179B	44538346|44538346	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.973000|0.973000	0.67179|0.67179	3.137000|3.137000	0.50562|0.50562	2.483000|2.483000	0.83821|0.83821	0.563000|0.563000	0.77884|0.77884	CTG|TCT		0.353	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781		13	102	0	0	0	0.00245	0	13	102		
FANCM	57697	broad.mit.edu	37	14	45605471	45605471	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:45605471G>A	ENST00000267430.5	+	1	322	c.237G>A	c.(235-237)gcG>gcA	p.A79A	FKBP3_ENST00000396062.3_5'Flank|FANCM_ENST00000556036.1_Silent_p.A79A|FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000542564.2_Silent_p.A79A	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	79					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GCACCTCCGCGGGCGCCCTGT	0.597								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3		NaN																	0				ovary(3)|lung(2)|breast(2)	7						c.(235-237)GCG>GCA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							68.0	71.0	70.0					14																	45605471		2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605471G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.237G>A	14.37:g.45605471G>A						FANCM_uc001wwc.2_Silent_p.A79A|FANCM_uc010anf.2_Silent_p.A79A|FKBP3_uc010tqf.1_5'Flank	p.A79A	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			1	336	+			79					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.237G>A	CCDS32070.1																																																																																				0.597	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1		XM_048128		9	37	0	0	0	0.006214	0	9	37		
KLHDC2	23588	broad.mit.edu	37	14	50238388	50238388	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:50238388G>A	ENST00000298307.5	+	2	1091	c.230G>A	c.(229-231)aGa>aAa	p.R77K	KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.R77K|KLHDC2_ENST00000557247.1_Missense_Mutation_p.R77K	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	77						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GAGACTGGAAGATGGTAAATG	0.393																																						uc001wwx.2		NaN																	0				ovary(1)	1						c.(229-231)AGA>AAA		kelch domain containing 2							54.0	60.0	58.0					14																	50238388		2203	4300	6503	SO:0001583	missense	23588					nucleus	protein binding	g.chr14:50238388G>A	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.230G>A	14.37:g.50238388G>A	ENSP00000298307:p.Arg77Lys					SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Missense_Mutation_p.R77K|KLHDC2_uc010anp.2_Missense_Mutation_p.R77K	p.R77K	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN			2	630	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		77			Kelch 1.		B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	c.230G>A	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980469	0.18812	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.61510	0.1;0.1;0.1	5.83	4.93	0.64822	Kelch-type beta propeller (1);	0.161807	0.56097	D	0.000030	T	0.43942	0.1270	L	0.28274	0.84	0.34167	D	0.669321	B;B;B	0.24721	0.02;0.11;0.08	B;B;B	0.26202	0.03;0.056;0.067	T	0.48234	-0.9053	10	0.07325	T	0.83	-21.0654	16.8187	0.85740	0.0:0.1288:0.8712:0.0	.	77;77;77	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	K	77	ENSP00000298307:R77K;ENSP00000451439:R77K;ENSP00000450658:R77K	ENSP00000298307:R77K	R	+	2	0	KLHDC2	49308138	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.545000	0.60698	1.423000	0.47198	0.591000	0.81541	AGA		0.393	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1				19	54	0	0	0	0.006122	0	19	54		
TXNDC16	57544	broad.mit.edu	37	14	52936858	52936858	+	Silent	SNP	C	C	T	rs576864053		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:52936858C>T	ENST00000281741.4	-	16	1886	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	505					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTTCTTGGATCGATGTTATAT	0.289													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12488	0.0		0.0	False		,,,				2504	0.0					uc001wzs.2		NaN																	0					0						c.(1513-1515)TCG>TCA		thioredoxin domain containing 16 isoform 1							82.0	81.0	81.0					14																	52936858		2203	4298	6501	SO:0001819	synonymous_variant	57544				cell redox homeostasis	extracellular region		g.chr14:52936858C>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1515G>A	14.37:g.52936858C>T						TXNDC16_uc010tqu.1_Silent_p.S500S|TXNDC16_uc010aoe.2_RNA	p.S505S	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN			16	1964	-	Breast(41;0.0716)		505					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Silent	SNP	ENST00000281741.4	37	c.1515G>A	CCDS32083.1																																																																																				0.289	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1		XM_051699		13	83	0	0	0	0.013537	0	13	83		
DLGAP5	9787	broad.mit.edu	37	14	55642735	55642735	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:55642735C>T	ENST00000247191.2	-	9	1267	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	DLGAP5_ENST00000395425.2_Splice_Site_p.D351N	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	351					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGAGACTCATCACTAAAAACA	0.313																																						uc001xbs.2		NaN																	0				ovary(1)|skin(1)	2						c.(1051-1053)GAT>AAT		discs large homolog 7 isoform a							120.0	113.0	115.0					14																	55642735		2203	4297	6500	SO:0001630	splice_region_variant	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55642735C>T	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1050-1G>A	14.37:g.55642735C>T						DLGAP5_uc001xbt.2_Missense_Mutation_p.D351N	p.D351N	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			9	1268	-			351					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.1051G>A	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254621	0.22965	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.15952	2.38;2.38	4.56	2.66	0.31614	.	2.697580	0.01136	N	0.006085	T	0.20495	0.0493	M	0.63428	1.95	0.30678	N	0.752615	P;B	0.35944	0.529;0.357	B;B	0.35039	0.194;0.114	T	0.27054	-1.0085	10	0.22109	T	0.4	.	6.6485	0.22949	0.0:0.7236:0.1791:0.0974	.	351;351	A8MTM6;Q15398	.;DLGP5_HUMAN	N	351	ENSP00000378815:D351N;ENSP00000247191:D351N	ENSP00000247191:D351N	D	-	1	0	DLGAP5	54712488	0.826000	0.29277	0.995000	0.50966	0.936000	0.57629	0.182000	0.16900	0.791000	0.33826	0.650000	0.86243	GAT		0.313	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2		NM_014750	Missense_Mutation	19	60	0	0	0	0.006122	0	19	60		
SLC35F4	341880	broad.mit.edu	37	14	58047974	58047974	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:58047974C>A	ENST00000339762.6	-	4	872	c.873G>T	c.(871-873)ttG>ttT	p.L291F	SLC35F4_ENST00000554729.1_Missense_Mutation_p.L132F|SLC35F4_ENST00000556826.1_Missense_Mutation_p.L255F|RP11-409I10.2_ENST00000555600.1_RNA			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	291	EamA.				transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCATGACAGCAAGAAGACAA	0.443																																						uc001xdb.1		NaN																	0				ovary(2)	2						c.(871-873)TTG>TTT		solute carrier family 35, member F4							64.0	63.0	63.0					14																	58047974		2045	4184	6229	SO:0001583	missense	341880							g.chr14:58047974C>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.873G>T	14.37:g.58047974C>A	ENSP00000342518:p.Leu291Phe					SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.L132F	p.L291F	NM_001080455	NP_001073924					4	873	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.873G>T		.	.	.	.	.	.	.	.	.	.	C	14.89	2.669960	0.47677	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.74526	-0.85;-0.85;-0.85	6.08	3.97	0.46021	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82208	-0.0571	10	0.41790	T	0.15	-16.1407	7.7709	0.29008	0.0:0.6642:0.1274:0.2083	.	291	A4IF30	S35F4_HUMAN	F	255;291;132	ENSP00000452086:L255F;ENSP00000342518:L291F;ENSP00000451990:L132F	ENSP00000342518:L291F	L	-	3	2	SLC35F4	57117727	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	1.681000	0.37618	1.595000	0.50050	0.591000	0.81541	TTG		0.443	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding			XM_292260		8	20	1	0	0.000274275	0.004482	0.000279426	8	20		
MNAT1	4331	broad.mit.edu	37	14	61285476	61285476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:61285476C>T	ENST00000261245.4	+	6	699	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	MNAT1_ENST00000539616.2_Intron	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	200					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GCTTTTGGCTCAGCATAAAGA	0.368								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														uc001xfd.2		NaN																	0				ovary(1)|lung(1)	2						c.(598-600)CAG>TAG	Direct_reversal_of_damage|NER	menage a trois 1 (CAK assembly factor)							73.0	74.0	74.0					14																	61285476		2203	4300	6503	SO:0001587	stop_gained	4331				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	g.chr14:61285476C>T	X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.598C>T	14.37:g.61285476C>T	ENSP00000261245:p.Gln200*					MNAT1_uc001xfe.2_Intron	p.Q200*	NM_002431	NP_002422	P51948	MAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0174)	6	709	+			200	Missing (in Ref. 3; AAB05248).				G3V1U8|Q15817|Q6ICQ7	Nonsense_Mutation	SNP	ENST00000261245.4	37	c.598C>T	CCDS9750.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231347	0.79688	.	.	ENSG00000020426	ENST00000261245;ENST00000554002;ENST00000557134	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-4.8818	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	200;95;60	.	ENSP00000261245:Q200X	Q	+	1	0	MNAT1	60355229	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	5.827000	0.69300	2.941000	0.99782	0.655000	0.94253	CAG		0.368	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1		NM_002431		21	66	0	0	0	0.010504	0	21	66		
SYNE2	23224	broad.mit.edu	37	14	64608747	64608747	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64608747G>A	ENST00000344113.4	+	82	15459	c.15247G>A	c.(15247-15249)Gac>Aac	p.D5083N	SYNE2_ENST00000555002.1_Missense_Mutation_p.D1717N|SYNE2_ENST00000394768.2_Missense_Mutation_p.D1468N|SYNE2_ENST00000554584.1_Missense_Mutation_p.D5000N|SYNE2_ENST00000357395.3_Missense_Mutation_p.D1468N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D5083N|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5083					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCAGATGAAGACTCCGTGCA	0.383																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(15247-15249)GAC>AAC		spectrin repeat containing, nuclear envelope 2							94.0	87.0	89.0					14																	64608747		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64608747G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15247G>A	14.37:g.64608747G>A	ENSP00000341781:p.Asp5083Asn					SYNE2_uc001xgl.2_Missense_Mutation_p.D5083N|SYNE2_uc010apy.2_Missense_Mutation_p.D1468N|SYNE2_uc001xgn.2_Missense_Mutation_p.D45N|SYNE2_uc001xgo.2_RNA	p.D5083N	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	82	15477	+			5083			Spectrin 2.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.15247G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472693	0.26423	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.55930	0.55;0.49;0.55;0.55;0.55;0.49	5.93	5.04	0.67666	.	0.340768	0.24722	N	0.036134	T	0.55114	0.1900	M	0.62723	1.935	0.80722	D	1	P;B;B;P	0.39940	0.696;0.053;0.094;0.646	B;B;B;B	0.43838	0.433;0.019;0.027;0.29	T	0.51309	-0.8722	10	0.30854	T	0.27	.	14.5456	0.68027	0.0698:0.0:0.9302:0.0	.	1468;5000;5083;5083	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	N	5083;1468;5083;5000;5006;1717;1468	ENSP00000350719:D5083N;ENSP00000349969:D1468N;ENSP00000341781:D5083N;ENSP00000452570:D5000N;ENSP00000450831:D1717N;ENSP00000378249:D1468N	ENSP00000261678:D5006N	D	+	1	0	SYNE2	63678500	0.988000	0.35896	0.124000	0.21820	0.038000	0.13279	4.072000	0.57563	2.810000	0.96702	0.655000	0.94253	GAC		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		12	41	0	0	0	0.010729	0	12	41		
SYNE2	23224	broad.mit.edu	37	14	64680937	64680937	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64680937C>T	ENST00000344113.4	+	106	19294	c.19082C>T	c.(19081-19083)tCt>tTt	p.S6361F	SYNE2_ENST00000555002.1_Missense_Mutation_p.S2995F|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2746F|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6303F|SYNE2_ENST00000357395.3_Missense_Mutation_p.S2746F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6361F|SYNE2_ENST00000554805.1_Missense_Mutation_p.S144F|SYNE2_ENST00000441438.2_5'Flank|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_5'UTR|SYNE2_ENST00000555022.1_Missense_Mutation_p.S239F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6361					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGGAGGCCTCTGAGAATGAA	0.468																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(19081-19083)TCT>TTT		spectrin repeat containing, nuclear envelope 2							96.0	99.0	98.0					14																	64680937		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64680937C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19082C>T	14.37:g.64680937C>T	ENSP00000341781:p.Ser6361Phe					SYNE2_uc001xgl.2_Missense_Mutation_p.S6361F|SYNE2_uc010apy.2_Missense_Mutation_p.S2746F|SYNE2_uc001xgn.2_Missense_Mutation_p.S1323F|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.S331F|SYNE2_uc001xgq.2_Missense_Mutation_p.S726F|SYNE2_uc001xgr.2_Missense_Mutation_p.S144F|SYNE2_uc010tsi.1_5'UTR|SYNE2_uc001xgs.2_5'UTR|SYNE2_uc001xgt.2_5'Flank	p.S6361F	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	106	19312	+			6361			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.19082C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916619	0.52546	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.61158	0.32;3.66;0.28;0.13;3.67;3.66;3.34;2.74	5.38	5.38	0.77491	.	0.000000	0.49305	D	0.000156	T	0.76702	0.4024	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.993;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.994;0.962;0.999;0.993;0.999	T	0.78239	-0.2281	10	0.87932	D	0	.	19.3333	0.94303	0.0:1.0:0.0:0.0	.	2746;749;6303;6361;6361	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	F	6361;2746;6361;6303;6309;2995;2746;239;144	ENSP00000350719:S6361F;ENSP00000349969:S2746F;ENSP00000341781:S6361F;ENSP00000452570:S6303F;ENSP00000450831:S2995F;ENSP00000378249:S2746F;ENSP00000451009:S239F;ENSP00000450605:S144F	ENSP00000261678:S6309F	S	+	2	0	SYNE2	63750690	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.773000	0.75006	2.793000	0.96121	0.655000	0.94253	TCT		0.468	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		48	51	0	0	0	0.013114	0	48	51		
SYNE2	23224	broad.mit.edu	37	14	64685228	64685228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64685228C>T	ENST00000344113.4	+	108	19798	c.19586C>T	c.(19585-19587)tCa>tTa	p.S6529L	SYNE2_ENST00000555002.1_Missense_Mutation_p.S3186L|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2914L|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.S2914L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6552L|SYNE2_ENST00000554805.1_Missense_Mutation_p.S312L|SYNE2_ENST00000441438.2_Missense_Mutation_p.S60L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_Missense_Mutation_p.S186L|SYNE2_ENST00000555022.1_Missense_Mutation_p.S407L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6529					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGCAGCAGTCAGGTACTGCC	0.512																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(19585-19587)TCA>TTA		spectrin repeat containing, nuclear envelope 2							52.0	53.0	53.0					14																	64685228		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64685228C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19586C>T	14.37:g.64685228C>T	ENSP00000341781:p.Ser6529Leu					SYNE2_uc001xgl.2_Missense_Mutation_p.S6552L|SYNE2_uc010apy.2_Missense_Mutation_p.S2914L|SYNE2_uc001xgn.2_Missense_Mutation_p.S1491L|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.S499L|SYNE2_uc001xgq.2_Missense_Mutation_p.S894L|SYNE2_uc001xgr.2_Missense_Mutation_p.S312L|SYNE2_uc010tsi.1_Missense_Mutation_p.S186L|SYNE2_uc001xgs.2_Missense_Mutation_p.S186L|SYNE2_uc001xgt.2_Missense_Mutation_p.S60L	p.S6529L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	108	19816	+			6529			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.19586C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390462	0.42410	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.54071	0.61;3.91;0.59;3.99;3.91;3.55;3.06;2.57;2.27	5.03	5.03	0.67393	.	0.899723	0.09280	N	0.823901	T	0.52853	0.1760	L	0.59436	1.845	0.80722	D	1	B;P;B;B;B;P;P	0.44429	0.204;0.835;0.317;0.317;0.178;0.57;0.835	B;B;B;B;B;B;B	0.39840	0.033;0.311;0.228;0.106;0.211;0.206;0.311	T	0.55792	-0.8085	10	0.56958	D	0.05	.	13.7253	0.62754	0.0:1.0:0.0:0.0	.	186;2914;60;186;917;6529;6552	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	L	6552;2914;6529;3186;2914;407;312;186;60	ENSP00000350719:S6552L;ENSP00000349969:S2914L;ENSP00000341781:S6529L;ENSP00000450831:S3186L;ENSP00000378249:S2914L;ENSP00000451009:S407L;ENSP00000450605:S312L;ENSP00000391937:S186L;ENSP00000396794:S60L	ENSP00000341781:S6529L	S	+	2	0	SYNE2	63754981	0.995000	0.38212	0.993000	0.49108	0.094000	0.18550	4.391000	0.59652	2.595000	0.87683	0.561000	0.74099	TCA		0.512	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		5	19	0	0	0	0.000602	0	5	19		
MTHFD1	4522	broad.mit.edu	37	14	64909033	64909033	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64909033C>G	ENST00000545908.1	+	21	2446	c.2217C>G	c.(2215-2217)atC>atG	p.I739M	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.I683M|CTD-2555O16.4_ENST00000609125.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	683	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	TTTTTAACATCAAATGCCGGT	0.527																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2		NaN																	0				ovary(2)	2						c.(2047-2049)ATC>ATG		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						96.0	94.0	94.0					14																	64909033		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64909033C>G	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2217C>G	14.37:g.64909033C>G	ENSP00000438588:p.Ile739Met					MTHFD1_uc010aqf.2_Missense_Mutation_p.I739M	p.I683M	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	21	2436	+			683			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.2049C>G		.	.	.	.	.	.	.	.	.	.	C	18.18	3.567046	0.65651	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.35048	1.33;1.33;1.33	5.87	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.78081	-0.2343	10	0.87932	D	0	-20.6654	8.2988	0.32001	0.0:0.7151:0.0:0.2849	.	739;683	F5H2F4;G3V2B8	.;.	M	739;683;739	ENSP00000438588:I739M;ENSP00000450560:I683M;ENSP00000216605:I739M	ENSP00000216605:I683M	I	+	3	3	MTHFD1	63978786	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.094000	0.41719	1.632000	0.50472	-0.140000	0.14226	ATC		0.527	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1				45	74	0	0	0	0.010771	0	45	74		
ZBTB1	22890	broad.mit.edu	37	14	64989728	64989728	+	Missense_Mutation	SNP	T	T	G	rs142978553	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64989728T>G	ENST00000554015.1	+	4	1937	c.1506T>G	c.(1504-1506)gaT>gaG	p.D502E	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000358738.3_Missense_Mutation_p.D502E|ZBTB1_ENST00000394712.2_Missense_Mutation_p.D502E			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	502					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AAATAAGAGATATGTTTGTTG	0.398																																						uc001xhh.3		NaN																	0				skin(1)	1						c.(1504-1506)GAT>GAG		zinc finger and BTB domain containing 1 isoform		T	GLU/ASP,GLU/ASP	1,4405	2.1+/-5.4	0,1,2202	118.0	118.0	118.0		1506,1506	-2.5	1.0	14	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ZBTB1	NM_001123329.1,NM_014950.2	45,45	0,3,6500	GG,GT,TT		0.0233,0.0227,0.0231	benign,benign	502/714,502/645	64989728	3,13003	2203	4300	6503	SO:0001583	missense	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64989728T>G	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1506T>G	14.37:g.64989728T>G	ENSP00000451000:p.Asp502Glu					ZBTB1_uc010aqg.2_Missense_Mutation_p.D502E|ZBTB1_uc001xhi.2_Missense_Mutation_p.D502E	p.D502E	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	4	1937	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	502					A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	c.1506T>G	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	T	8.684	0.905762	0.17760	2.27E-4	2.33E-4	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10192	2.9;3.46;2.9	6.03	-2.53	0.06326	.	1.262490	0.05035	N	0.475322	T	0.06781	0.0173	N	0.14661	0.345	0.29421	N	0.860531	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.42207	-0.9465	10	0.54805	T	0.06	-22.4399	7.3473	0.26670	0.0:0.3599:0.3125:0.3275	.	502;502	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	E	502	ENSP00000451000:D502E;ENSP00000351587:D502E;ENSP00000378201:D502E	ENSP00000351587:D502E	D	+	3	2	ZBTB1	64059481	0.449000	0.25689	0.965000	0.40720	0.991000	0.79684	-0.079000	0.11357	-0.070000	0.12908	0.533000	0.62120	GAT		0.398	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1				38	97	0	0	0	0.004289	0	38	97		
ZBTB1	22890	broad.mit.edu	37	14	64990098	64990098	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64990098G>C	ENST00000554015.1	+	4	2307	c.1876G>C	c.(1876-1878)Gat>Cat	p.D626H	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000358738.3_Missense_Mutation_p.D626H|ZBTB1_ENST00000394712.2_Missense_Mutation_p.D626H			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	626					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		ACTGCACAATGATATGCACAA	0.388																																						uc001xhh.3		NaN																	0				skin(1)	1						c.(1876-1878)GAT>CAT		zinc finger and BTB domain containing 1 isoform							125.0	118.0	121.0					14																	64990098		2203	4300	6503	SO:0001583	missense	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64990098G>C	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1876G>C	14.37:g.64990098G>C	ENSP00000451000:p.Asp626His					ZBTB1_uc010aqg.2_Missense_Mutation_p.D626H|ZBTB1_uc001xhi.2_Missense_Mutation_p.D626H	p.D626H	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	4	2307	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	626			C2H2-type 5.		A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	c.1876G>C	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195673	0.58126	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10099	2.91;3.48;2.91	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.163511	0.42294	D	0.000727	T	0.21062	0.0507	N	0.21282	0.65	0.80722	D	1	D;D	0.65815	0.995;0.991	D;P	0.64144	0.922;0.689	T	0.02208	-1.1195	10	0.72032	D	0.01	-25.4518	19.0812	0.93182	0.0:0.0:1.0:0.0	.	626;626	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	H	626	ENSP00000451000:D626H;ENSP00000351587:D626H;ENSP00000378201:D626H	ENSP00000351587:D626H	D	+	1	0	ZBTB1	64059851	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.430000	0.97488	2.505000	0.84491	0.650000	0.86243	GAT		0.388	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1				48	54	0	0	0	0.01441	0	48	54		
HSPA2	3306	broad.mit.edu	37	14	65009223	65009223	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:65009223C>T	ENST00000394709.1	+	2	1732	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Silent_p.I552I			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	552					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCTACAACATCAAGCAGACGG	0.552																																					Pancreas(136;1211 1835 24894 31984 38227)	uc001xhj.2		NaN																	0				skin(1)	1						c.(1654-1656)ATC>ATT		heat shock 70kDa protein 2							93.0	94.0	93.0					14																	65009223		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65009223C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1656C>T	14.37:g.65009223C>T						HSPA2_uc001xhk.3_Silent_p.I552I	p.I552I	NM_021979	NP_068814	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	2	1732	+			552					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.1656C>T	CCDS9766.1																																																																																				0.552	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1				25	51	0	0	0	0.00333	0	25	51		
ARG2	384	broad.mit.edu	37	14	68114822	68114822	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:68114822C>T	ENST00000261783.3	+	7	961	c.781C>T	c.(781-783)Cca>Tca	p.P261S	VTI1B_ENST00000554659.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	261					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TACACTGGCTCCAGCCACAGG	0.398																																						uc001xjs.2		NaN																	0					0						c.(781-783)CCA>TCA		arginase 2 precursor	L-Arginine(DB00125)|L-Ornithine(DB00129)						74.0	69.0	71.0					14																	68114822		2203	4300	6503	SO:0001583	missense	384				arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	g.chr14:68114822C>T	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.781C>T	14.37:g.68114822C>T	ENSP00000261783:p.Pro261Ser						p.P261S	NM_001172	NP_001163	P78540	ARGI2_HUMAN		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	7	897	+			261					B2R690|Q6FHY8	Missense_Mutation	SNP	ENST00000261783.3	37	c.781C>T	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281215	0.95489	.	.	ENSG00000081181	ENST00000261783	T	0.75050	-0.9	5.92	5.92	0.95590	Ureohydrolase domain (1);	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.91720	0.5388	10	0.72032	D	0.01	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	261	P78540	ARGI2_HUMAN	S	261	ENSP00000261783:P261S	ENSP00000261783:P261S	P	+	1	0	ARG2	67184575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.979000	0.63806	2.822000	0.97130	0.650000	0.86243	CCA		0.398	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2		NM_001172		14	37	0	0	0	0.00245	0	14	37		
PCNX	22990	broad.mit.edu	37	14	71575342	71575342	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:71575342C>T	ENST00000304743.2	+	34	6769	c.6323C>T	c.(6322-6324)tCt>tTt	p.S2108F	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.S2036F|PCNX_ENST00000439984.3_Missense_Mutation_p.S1997F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2108	Ser-rich.					integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGCTCTCACTCTGTGCAGTCG	0.532																																						uc001xmo.2		NaN																	0				ovary(1)	1						c.(6322-6324)TCT>TTT		pecanex-like 1							47.0	46.0	46.0					14																	71575342		2203	4299	6502	SO:0001583	missense	22990					integral to membrane		g.chr14:71575342C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6323C>T	14.37:g.71575342C>T	ENSP00000304192:p.Ser2108Phe					PCNX_uc010are.1_Missense_Mutation_p.S1997F|PCNX_uc010arf.1_Missense_Mutation_p.S896F|PCNX_uc001xmp.2_Missense_Mutation_p.S192F	p.S2108F	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	34	6769	+			2108			Ser-rich.		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.6323C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948295	0.53186	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.13538	2.96;2.96;2.58	5.54	5.54	0.83059	.	0.052059	0.85682	D	0.000000	T	0.26159	0.0638	L	0.60455	1.87	0.39307	D	0.965008	P;P;P	0.50710	0.693;0.938;0.938	P;P;P	0.49226	0.588;0.603;0.603	T	0.00759	-1.1578	10	0.87932	D	0	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	2036;1997;2108	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	F	2108;2036;1997	ENSP00000304192:S2108F;ENSP00000238570:S2036F;ENSP00000396617:S1997F	ENSP00000238570:S2036F	S	+	2	0	PCNX	70645095	1.000000	0.71417	0.641000	0.29422	0.002000	0.02628	7.168000	0.77570	2.890000	0.99128	0.650000	0.86243	TCT		0.532	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1		NM_014982		21	30	0	0	0	0.012319	0	21	30		
SIPA1L1	26037	broad.mit.edu	37	14	72196839	72196839	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:72196839G>A	ENST00000555818.1	+	18	5093	c.4745G>A	c.(4744-4746)aGa>aAa	p.R1582K	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1561K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R1036K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1561K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1582					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCCTTGCACAGAACACTGTCG	0.547																																						uc001xms.2		NaN																	0				ovary(3)|breast(1)	4						c.(4744-4746)AGA>AAA		signal-induced proliferation-associated 1 like							90.0	81.0	84.0					14																	72196839		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72196839G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4745G>A	14.37:g.72196839G>A	ENSP00000450832:p.Arg1582Lys					SIPA1L1_uc001xmt.2_Missense_Mutation_p.R1561K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R1561K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R1582K|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R1036K|SIPA1L1_uc001xmw.2_Missense_Mutation_p.R347K	p.R1582K	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	18	5093	+			1582					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.4745G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375514	0.95923	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.979;0.998;0.998;0.997	D;D;D;D;D	0.77557	0.99;0.973;0.987;0.99;0.976	T	0.78183	-0.2303	10	0.54805	T	0.06	-23.0441	19.0376	0.92985	0.0:0.0:1.0:0.0	.	1036;1582;1036;1561;1582	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	K	1561;1582;1561;1036	ENSP00000370630:R1561K;ENSP00000450832:R1582K;ENSP00000351352:R1561K;ENSP00000440682:R1036K	ENSP00000351352:R1582K	R	+	2	0	SIPA1L1	71266592	1.000000	0.71417	0.962000	0.40283	0.933000	0.57130	9.300000	0.96151	2.491000	0.84063	0.462000	0.41574	AGA		0.547	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1		NM_015556		19	44	0	0	0	0.010504	0	19	44		
RBM25	58517	broad.mit.edu	37	14	73577788	73577788	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:73577788A>T	ENST00000261973.7	+	15	2227	c.1942A>T	c.(1942-1944)Att>Ttt	p.I648F	RBM25_ENST00000527432.1_Missense_Mutation_p.I648F|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	648					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TGGTATTATTATTCCTCATGA	0.468																																						uc001xno.2		NaN																	0				central_nervous_system(2)|ovary(1)|breast(1)	4						c.(1942-1944)ATT>TTT		RNA binding motif protein 25							98.0	87.0	91.0					14																	73577788		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73577788A>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1942A>T	14.37:g.73577788A>T	ENSP00000261973:p.Ile648Phe					RBM25_uc010ttu.1_Missense_Mutation_p.I648F|RBM25_uc001xnp.2_Missense_Mutation_p.I443F	p.I648F	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	15	2150	+			648					A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.1942A>T	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050823	0.55218	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.12465	2.68;2.68	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	L	0.43152	1.355	0.80722	D	1	B	0.18741	0.03	B	0.20767	0.031	T	0.08868	-1.0701	10	0.12766	T	0.61	.	15.8195	0.78628	1.0:0.0:0.0:0.0	.	648	P49756	RBM25_HUMAN	F	648	ENSP00000261973:I648F;ENSP00000431150:I648F	ENSP00000261973:I648F	I	+	1	0	RBM25	72647541	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.146000	0.66826	0.383000	0.25322	ATT		0.468	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1		XM_027330		11	42	0	0	0	0.013537	0	11	42		
TTLL5	23093	broad.mit.edu	37	14	76238194	76238194	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:76238194G>C	ENST00000298832.9	+	21	2338	c.2133G>C	c.(2131-2133)caG>caC	p.Q711H	TTLL5_ENST00000554510.1_Missense_Mutation_p.Q220H|TTLL5_ENST00000557636.1_Missense_Mutation_p.Q725H|TTLL5_ENST00000556893.1_Missense_Mutation_p.Q262H|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	711					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGGATGAACAGATGGTAAGGC	0.393																																						uc001xrx.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2131-2133)CAG>CAC		tubulin tyrosine ligase-like family, member 5							113.0	108.0	110.0					14																	76238194		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76238194G>C	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2133G>C	14.37:g.76238194G>C	ENSP00000298832:p.Gln711His					TTLL5_uc010ask.1_Missense_Mutation_p.Q725H|TTLL5_uc001xrz.2_Missense_Mutation_p.Q286H|TTLL5_uc001xry.1_RNA	p.Q711H	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	21	2338	+			711					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.2133G>C	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732760	0.69189	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.29655	3.75;3.84;1.64;1.56	5.28	4.38	0.52667	.	0.111824	0.64402	D	0.000008	T	0.48822	0.1521	M	0.69823	2.125	0.45035	D	0.998051	D;D;D	0.76494	0.999;0.986;0.998	D;D;D	0.87578	0.998;0.949;0.993	T	0.51236	-0.8731	10	0.87932	D	0	.	5.8236	0.18540	0.2113:0.0:0.7887:0.0	.	725;262;711	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	H	398;725;711;262;262;220	ENSP00000450713:Q725H;ENSP00000298832:Q711H;ENSP00000452524:Q262H;ENSP00000451946:Q220H	ENSP00000298832:Q711H	Q	+	3	2	TTLL5	75307947	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.858000	0.62947	2.456000	0.83038	0.650000	0.86243	CAG		0.393	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1		NM_015072		37	53	0	0	0	0.005524	0	37	53		
ZC3H14	79882	broad.mit.edu	37	14	89039256	89039256	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:89039256G>C	ENST00000251038.5	+	6	991	c.766G>C	c.(766-768)Gaa>Caa	p.E256Q	ZC3H14_ENST00000555755.1_Missense_Mutation_p.E256Q|ZC3H14_ENST00000359301.3_Missense_Mutation_p.E222Q|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E256Q|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E256Q|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E256Q|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E101Q|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E222Q	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	256						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTGGGTATATGAAACAGGACG	0.408																																						uc001xww.2		NaN																	0				ovary(2)|skin(1)	3						c.(766-768)GAA>CAA		zinc finger CCCH-type containing 14 isoform 1							112.0	110.0	111.0					14																	89039256		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89039256G>C	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.766G>C	14.37:g.89039256G>C	ENSP00000251038:p.Glu256Gln					ZC3H14_uc010twd.1_Missense_Mutation_p.E256Q|ZC3H14_uc010twe.1_Missense_Mutation_p.E256Q|ZC3H14_uc001xwx.2_Missense_Mutation_p.E256Q|ZC3H14_uc010twf.1_Missense_Mutation_p.E101Q|ZC3H14_uc001xwy.2_Missense_Mutation_p.E222Q|ZC3H14_uc010twg.1_Missense_Mutation_p.E101Q|ZC3H14_uc001xxa.2_5'Flank	p.E256Q	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			6	991	+			256					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.766G>C	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.91|11.91	1.778740|1.778740	0.31502|0.31502	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693|ENST00000556000	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.306920|.	0.40818|.	N|.	0.001013|.	T|T	0.61664|0.61664	0.2365|0.2365	M|M	0.62723|0.62723	1.935|1.935	0.31733|0.31733	N|N	0.636804|0.636804	P;B;P;B;B;B|.	0.37731|.	0.607;0.241;0.592;0.328;0.449;0.328|.	B;B;P;B;B;B|.	0.45406|.	0.28;0.165;0.479;0.188;0.329;0.188|.	T|T	0.66384|0.66384	-0.5937|-0.5937	9|5	0.25106|.	T|.	0.35|.	-8.5732|-8.5732	13.5106|13.5106	0.61511|0.61511	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	256;237;256;256;256;256|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;ZC3HE_HUMAN|.	Q|I	256;256;256;222;256;237;256;101;256;256;222|171	.|.	ENSP00000251038:E256Q|.	E|M	+|+	1|3	0|0	ZC3H14|ZC3H14	88109009|88109009	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.274000|0.274000	0.26718|0.26718	6.554000|6.554000	0.73923|0.73923	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.408	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1		NM_024824		39	102	0	0	0	0.004289	0	39	102		
TTC7B	145567	broad.mit.edu	37	14	91196427	91196427	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:91196427G>A	ENST00000328459.6	-	5	811	c.690C>T	c.(688-690)ttC>ttT	p.F230F	TTC7B_ENST00000357056.2_Silent_p.F230F	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	230										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACCCATTTTTGAAATAGAGGA	0.388																																						uc001xyp.2		NaN																	0				ovary(2)	2						c.(688-690)TTC>TTT		tetratricopeptide repeat domain 7B							88.0	100.0	96.0					14																	91196427		2203	4300	6503	SO:0001819	synonymous_variant	145567						binding	g.chr14:91196427G>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.690C>T	14.37:g.91196427G>A							p.F230F	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			5	812	-		Melanoma(154;0.222)	230			TPR 2.		Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	c.690C>T	CCDS32140.1																																																																																				0.388	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2				51	127	0	0	0	0.01441	0	51	127		
CCDC88C	440193	broad.mit.edu	37	14	91791126	91791126	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:91791126C>T	ENST00000389857.6	-	12	1425	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	447					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TACCTACCGTCTGACAAGTCT	0.602																																						uc010aty.2		NaN																	0				ovary(3)	3						c.(1339-1341)GAC>AAC		DVL-binding protein DAPLE							83.0	91.0	88.0					14																	91791126		2135	4243	6378	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91791126C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1339G>A	14.37:g.91791126C>T	ENSP00000374507:p.Asp447Asn						p.D447N	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			12	1438	-		all_cancers(154;0.0468)	447					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.1339G>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437883	0.83885	.	.	ENSG00000015133	ENST00000389857	T	0.16597	2.33	5.76	5.76	0.90799	.	0.000000	0.50627	U	0.000114	T	0.19167	0.0460	L	0.31664	0.95	0.80722	D	1	B	0.32968	0.392	B	0.37943	0.261	T	0.02378	-1.1168	10	0.37606	T	0.19	.	19.9592	0.97233	0.0:1.0:0.0:0.0	.	447	Q9P219	DAPLE_HUMAN	N	447	ENSP00000374507:D447N	ENSP00000374507:D447N	D	-	1	0	CCDC88C	90860879	1.000000	0.71417	0.744000	0.31058	0.968000	0.65278	5.077000	0.64419	2.728000	0.93425	0.555000	0.69702	GAC		0.602	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1		XM_029353		9	20	0	0	0	0.004482	0	9	20		
CCDC88C	440193	broad.mit.edu	37	14	91791156	91791156	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:91791156C>G	ENST00000389857.6	-	12	1395	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	437					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GACAGCTGCTCCAGCTCCCAG	0.587																																						uc010aty.2		NaN																	0				ovary(3)	3						c.(1309-1311)GAG>CAG		DVL-binding protein DAPLE							105.0	115.0	112.0					14																	91791156		2150	4255	6405	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91791156C>G		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1309G>C	14.37:g.91791156C>G	ENSP00000374507:p.Glu437Gln						p.E437Q	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			12	1408	-		all_cancers(154;0.0468)	437					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.1309G>C	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301697	0.95601	.	.	ENSG00000015133	ENST00000389857	T	0.17528	2.27	5.76	5.76	0.90799	.	0.000000	0.49305	U	0.000152	T	0.45836	0.1362	M	0.76170	2.325	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.34502	-0.9826	10	0.66056	D	0.02	-27.0503	19.9592	0.97233	0.0:1.0:0.0:0.0	.	437	Q9P219	DAPLE_HUMAN	Q	437	ENSP00000374507:E437Q	ENSP00000374507:E437Q	E	-	1	0	CCDC88C	90860909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.431000	0.80335	2.728000	0.93425	0.555000	0.69702	GAG		0.587	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1		XM_029353		11	36	0	0	0	0.013537	0	11	36		
CATSPERB	79820	broad.mit.edu	37	14	92084066	92084066	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:92084066C>T	ENST00000256343.3	-	20	2431	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	759					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGTGGTATTTCAAGCATTCGA	0.313																																						uc001xzs.1		NaN																	0				breast(2)|skin(2)|ovary(1)	5						c.(2275-2277)GAA>AAA		cation channel, sperm-associated, beta							102.0	94.0	97.0					14																	92084066		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92084066C>T	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2275G>A	14.37:g.92084066C>T	ENSP00000256343:p.Glu759Lys					CATSPERB_uc010aub.1_Missense_Mutation_p.E281K	p.E759K	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			20	2415	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	759					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2275G>A	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762918	0.31228	.	.	ENSG00000133962	ENST00000256343	T	0.43688	0.94	5.76	-0.0376	0.13883	.	1.137630	0.06697	N	0.770701	T	0.32071	0.0817	L	0.44542	1.39	0.09310	N	1	B	0.21225	0.053	B	0.17722	0.019	T	0.27434	-1.0074	10	0.18276	T	0.48	-7.2695	7.5421	0.27744	0.0:0.2711:0.5482:0.1807	.	759	Q9H7T0	CTSRB_HUMAN	K	759	ENSP00000256343:E759K	ENSP00000256343:E759K	E	-	1	0	CATSPERB	91153819	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.344000	0.07780	0.320000	0.23234	0.467000	0.42956	GAA		0.313	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1		NM_024764		28	33	0	0	0	0.009535	0	28	33		
OTUB2	78990	broad.mit.edu	37	14	94512231	94512231	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:94512231C>T	ENST00000203664.5	+	6	877	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2	223	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		TATAAAACATCCCACTACAAC	0.498																																						uc001yci.2		NaN																	0					0						c.(667-669)TCC>TTC		OTU domain, ubiquitin aldehyde binding 2							100.0	77.0	85.0					14																	94512231		2203	4300	6503	SO:0001583	missense	78990				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity	g.chr14:94512231C>T	AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"""OTU domain containing"""	20351	protein-coding gene	gene with protein product		608338	"""chromosome 14 open reading frame 137"", ""OTU domain, ubiquitin aldehyde binding 2"""	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.668C>T	14.37:g.94512231C>T	ENSP00000203664:p.Ser223Phe						p.S223F	NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)	6	828	+		all_cancers(154;0.12)	223			OTU.		Q6IA10|Q9H6T1	Missense_Mutation	SNP	ENST00000203664.5	37	c.668C>T	CCDS9917.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170781	0.78452	.	.	ENSG00000089723	ENST00000203664	T	0.44881	0.91	5.45	5.45	0.79879	Ovarian tumour, otubain (1);	0.138996	0.49916	D	0.000126	T	0.52289	0.1725	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	T	0.54063	-0.8349	10	0.87932	D	0	-1.6266	14.7856	0.69800	0.0:1.0:0.0:0.0	.	223	Q96DC9	OTUB2_HUMAN	F	223	ENSP00000203664:S223F	ENSP00000203664:S223F	S	+	2	0	OTUB2	93581984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.231000	0.51294	2.560000	0.86352	0.561000	0.74099	TCC		0.498	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412855.1				8	19	0	0	0	0.004482	0	8	19		
VRK1	7443	broad.mit.edu	37	14	97313665	97313665	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:97313665G>A	ENST00000216639.3	+	5	507	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TGGTCTACATGACAAAAATGG	0.348																																						uc001yft.2		NaN																	0				large_intestine(1)|stomach(1)	2						c.(358-360)GAC>AAC		vaccinia related kinase 1							94.0	95.0	95.0					14																	97313665		2203	4300	6503	SO:0001583	missense	7443					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:97313665G>A	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.358G>A	14.37:g.97313665G>A	ENSP00000216639:p.Asp120Asn						p.D120N	NM_003384	NP_003375	Q99986	VRK1_HUMAN		COAD - Colon adenocarcinoma(157;0.234)	5	464	+		Melanoma(154;0.155)	120			Protein kinase.		Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	37	c.358G>A	CCDS9947.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420929	0.62622	.	.	ENSG00000100749	ENST00000216639	T	0.20069	2.1	6.03	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.261903	0.46758	N	0.000274	T	0.14098	0.0341	N	0.20483	0.58	0.42590	D	0.993244	P	0.38582	0.638	B	0.38655	0.278	T	0.05954	-1.0854	10	0.72032	D	0.01	-17.2032	7.7312	0.28788	0.1418:0.1351:0.7231:0.0	.	120	Q99986	VRK1_HUMAN	N	120	ENSP00000216639:D120N	ENSP00000216639:D120N	D	+	1	0	VRK1	96383418	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	2.727000	0.47311	1.577000	0.49804	0.650000	0.86243	GAC		0.348	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1		NM_003384		13	36	0	0	0	0.001855	0	13	36		
CYP46A1	10858	broad.mit.edu	37	14	100192565	100192565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:100192565G>A	ENST00000261835.3	+	14	1408	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R338H|CYP46A1_ENST00000554176.1_Missense_Mutation_p.R272H	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	435					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CTGGGCCACCGCTCCTGCATC	0.642																																						uc001ygo.2		NaN																	0					0						c.(1303-1305)CGC>CAC		cytochrome P450, family 46							64.0	61.0	62.0					14																	100192565		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100192565G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1304G>A	14.37:g.100192565G>A	ENSP00000261835:p.Arg435His					CYP46A1_uc001ygp.2_Missense_Mutation_p.R272H	p.R435H	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			14	1304	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	435					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.1304G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064986	0.76187	.	.	ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000554176	D;D;D	0.92805	-1.81;-3.11;-3.11	3.67	3.67	0.42095	Cytochrome P450, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94483	0.8224	M	0.64630	1.985	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94582	0.7780	10	0.87932	D	0	.	11.6049	0.51026	0.0:0.0:1.0:0.0	.	272;435	Q8N2B0;Q9Y6A2	.;CP46A_HUMAN	H	435;338;272	ENSP00000261835:R435H;ENSP00000405779:R338H;ENSP00000450553:R272H	ENSP00000261835:R435H	R	+	2	0	CYP46A1	99262318	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.052000	0.71080	1.990000	0.58119	0.555000	0.69702	CGC		0.642	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1				15	31	0	0	0	0.00245	0	15	31		
BEGAIN	57596	broad.mit.edu	37	14	101012852	101012852	+	Silent	SNP	C	C	G	rs150444261		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:101012852C>G	ENST00000355173.2	-	3	233	c.162G>C	c.(160-162)acG>acC	p.T54T	BEGAIN_ENST00000556751.1_5'UTR|BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000443071.2_Silent_p.T54T	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	54						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCAGCTTCTCCGTGACCTTCT	0.756																																					NSCLC(159;1889 2010 9965 27479 40101)	uc010txa.1		NaN																	0					0						c.(160-162)ACG>ACC		brain-enriched guanylate kinase-associated							36.0	35.0	35.0					14																	101012852		2203	4300	6503	SO:0001819	synonymous_variant	57596					cytoplasm|membrane	protein binding	g.chr14:101012852C>G	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.162G>C	14.37:g.101012852C>G						BEGAIN_uc001yhp.2_5'UTR|BEGAIN_uc001yhq.2_Silent_p.T54T	p.T54T	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN			2	308	-		Melanoma(154;0.212)	54					Q9NPU3|Q9P282	Silent	SNP	ENST00000355173.2	37	c.162G>C	CCDS9962.1																																																																																				0.756	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1		NM_020836		4	7	0	0	0	0.001168	0	4	7		
DYNC1H1	1778	broad.mit.edu	37	14	102510791	102510791	+	Missense_Mutation	SNP	G	G	A	rs368476290		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:102510791G>A	ENST00000360184.4	+	71	13029	c.12865G>A	c.(12865-12867)Gac>Aac	p.D4289N	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4289					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGCAAGGTCGACGGACATAA	0.527																																						uc001yks.2		NaN																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(12865-12867)GAC>AAC		cytoplasmic dynein 1 heavy chain 1		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	71.0	68.0	69.0		12865	4.5	0.1	14		69	0,8600		0,0,4300	no	missense	DYNC1H1	NM_001376.4	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	4289/4647	102510791	1,13005	2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102510791G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12865G>A	14.37:g.102510791G>A	ENSP00000348965:p.Asp4289Asn						p.D4289N	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			71	13029	+			4289					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.12865G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279303	0.40294	2.27E-4	0.0	ENSG00000197102	ENST00000360184	T	0.29655	1.56	5.37	4.48	0.54585	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	M	0.75447	2.3	0.80722	D	1	P	0.41784	0.762	B	0.40677	0.337	T	0.19192	-1.0313	10	0.27785	T	0.31	.	14.2368	0.65932	0.0719:0.0:0.9281:0.0	.	4289	Q14204	DYHC1_HUMAN	N	4289	ENSP00000348965:D4289N	ENSP00000348965:D4289N	D	+	1	0	DYNC1H1	101580544	1.000000	0.71417	0.100000	0.21137	0.177000	0.22998	9.869000	0.99810	1.263000	0.44181	0.650000	0.86243	GAC		0.527	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376		11	28	0	0	0	0.008291	0	11	28		
TECPR2	9895	broad.mit.edu	37	14	102898163	102898163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:102898163C>T	ENST00000359520.7	+	8	1341	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L	TECPR2_ENST00000558678.1_Missense_Mutation_p.S372L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	372					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCTGGATGCTCAGAGCGTGTC	0.552																																						uc001ylw.1		NaN																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(1114-1116)TCA>TTA		tectonin beta-propeller repeat containing 2							87.0	89.0	88.0					14																	102898163		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102898163C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1115C>T	14.37:g.102898163C>T	ENSP00000352510:p.Ser372Leu					TECPR2_uc010awl.2_Missense_Mutation_p.S372L|TECPR2_uc010txx.1_Intron	p.S372L	NM_014844	NP_055659	O15040	TCPR2_HUMAN			8	1263	+			372					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.1115C>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668471	0.29604	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.14640	2.49	5.23	4.35	0.52113	.	1.193560	0.05603	N	0.576699	T	0.09949	0.0244	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28902	-1.0029	10	0.30854	T	0.27	.	10.1505	0.42791	0.0:0.8379:0.0:0.1621	.	372;372	A5PKY3;O15040	.;TCPR2_HUMAN	L	372	ENSP00000352510:S372L	ENSP00000352510:S372L	S	+	2	0	TECPR2	101967916	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	0.429000	0.21412	1.342000	0.45619	0.650000	0.86243	TCA		0.552	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2		NM_014844		29	87	0	0	0	0.00632	0	29	87		
TNFAIP2	7127	broad.mit.edu	37	14	103593907	103593907	+	Silent	SNP	C	C	T	rs370609704		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:103593907C>T	ENST00000560869.1	+	3	1440	c.801C>T	c.(799-801)ttC>ttT	p.F267F	TNFAIP2_ENST00000333007.1_Silent_p.F267F|TNFAIP2_ENST00000451723.2_5'Flank			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	267					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TGGCGCAGTTCGAGCTGTGCG	0.701																																						uc001ymm.1		NaN																	0				central_nervous_system(1)	1						c.(799-801)TTC>TTT		tumor necrosis factor, alpha-induced protein 2		C		1,4315		0,1,2157	9.0	8.0	8.0		801	1.1	1.0	14		8	0,8346		0,0,4173	no	coding-synonymous	TNFAIP2	NM_006291.2		0,1,6330	TT,TC,CC		0.0,0.0232,0.0079		267/655	103593907	1,12661	2158	4173	6331	SO:0001819	synonymous_variant	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103593907C>T		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.801C>T	14.37:g.103593907C>T						TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_5'UTR	p.F267F	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		2	932	+		Melanoma(154;0.155)	267					Q86VI0	Silent	SNP	ENST00000560869.1	37	c.801C>T	CCDS9979.1																																																																																				0.701	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1		NM_006291		3	3	0	0	0	0.004672	0	3	3		
MARK3	4140	broad.mit.edu	37	14	103969477	103969477	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:103969477G>T	ENST00000429436.2	+	18	2685	c.2175G>T	c.(2173-2175)ctG>ctT	p.L725L	MARK3_ENST00000553942.1_Silent_p.L716L|MARK3_ENST00000303622.9_Silent_p.L701L|MARK3_ENST00000335102.5_Silent_p.L748L|MARK3_ENST00000216288.7_Silent_p.L685L|MARK3_ENST00000440884.3_Silent_p.L631L|MARK3_ENST00000416682.2_Silent_p.L724L	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	725	KA1. {ECO:0000255|PROSITE- ProRule:PRU00565}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GACTGTCTCTGAACGGGGTCC	0.512																																						uc001ymz.3		NaN																	0				central_nervous_system(2)|ovary(1)|stomach(1)	4						c.(2173-2175)CTG>CTT		MAP/microtubule affinity-regulating kinase 3							64.0	66.0	66.0					14																	103969477		2011	4212	6223	SO:0001819	synonymous_variant	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103969477G>T	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2175G>T	14.37:g.103969477G>T						MARK3_uc001ymx.3_Silent_p.L716L|MARK3_uc001ymw.3_Silent_p.L701L|MARK3_uc001yna.3_Silent_p.L685L|MARK3_uc001ymy.3_Silent_p.L631L|MARK3_uc010awp.2_Silent_p.L724L|MARK3_uc010tyb.1_Silent_p.L520L|MARK3_uc010awq.2_Silent_p.L298L|MARK3_uc001ynd.2_Silent_p.L133L	p.L725L	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Epithelial(46;0.241)		18	2841	+		Melanoma(154;0.155)	725			KA1.		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Silent	SNP	ENST00000429436.2	37	c.2175G>T	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	G	0.881	-0.728759	0.03135	.	.	ENSG00000075413	ENST00000554627	.	.	.	5.93	2.02	0.26589	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6708	0.23068	0.1862:0.2395:0.5743:0.0	.	.	.	.	L	477	.	.	X	+	2	2	MARK3	103039230	1.000000	0.71417	0.968000	0.41197	0.257000	0.26127	2.871000	0.48459	0.113000	0.18004	0.655000	0.94253	TGA		0.512	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1		NM_001128918		15	36	1	0	3.52763e-06	0.00499	3.61253e-06	15	36		
ASPG	374569	broad.mit.edu	37	14	104571063	104571063	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:104571063C>T	ENST00000551177.1	+	9	1133	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	ASPG_ENST00000455920.2_Silent_p.V347V|ASPG_ENST00000546892.2_Silent_p.V347V	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	347	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GCCTGGATGTCAGGAAGGAGG	0.657																																						uc001yoq.1		NaN																	0					0						c.(1039-1041)GTC>GTT		60 kDa lysophospholipase							26.0	31.0	29.0					14																	104571063		2045	4196	6241	SO:0001819	synonymous_variant	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104571063C>T		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.1041C>T	14.37:g.104571063C>T						ASPG_uc001yoo.1_Silent_p.V375V|ASPG_uc001yop.1_Silent_p.V347V|ASPG_uc001yor.1_Silent_p.V347V	p.V347V	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN			9	1101	+			347			Asparaginase.		B9EGQ2|Q8IV80	Silent	SNP	ENST00000551177.1	37	c.1041C>T	CCDS45170.2																																																																																				0.657	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1		NM_001080464		10	6	0	0	0	0.013537	0	10	6		
AHNAK2	113146	broad.mit.edu	37	14	105408667	105408667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:105408667C>T	ENST00000333244.5	-	7	13240	c.13121G>A	c.(13120-13122)gGa>gAa	p.G4374E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4374						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGCCGGCTCCCTCATGCAC	0.587																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(13120-13122)GGA>GAA		AHNAK nucleoprotein 2							80.0	86.0	84.0					14																	105408667		1903	4132	6035	SO:0001583	missense	113146					nucleus		g.chr14:105408667C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13121G>A	14.37:g.105408667C>T	ENSP00000353114:p.Gly4374Glu					AHNAK2_uc001ypx.2_Missense_Mutation_p.G4274E	p.G4374E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13241	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4374					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13121G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	12.97	2.097883	0.37048	.	.	ENSG00000185567	ENST00000333244	T	0.03301	3.98	2.59	-2.2	0.06994	.	1.312600	0.06215	U	0.685753	T	0.11410	0.0278	M	0.72353	2.195	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.20371	-1.0277	10	0.29301	T	0.29	.	1.6085	0.02689	0.1413:0.4483:0.1382:0.2722	.	4374	Q8IVF2	AHNK2_HUMAN	E	4374	ENSP00000353114:G4374E	ENSP00000353114:G4374E	G	-	2	0	AHNAK2	104479712	0.003000	0.15002	0.000000	0.03702	0.092000	0.18411	1.067000	0.30616	-1.062000	0.03181	-0.673000	0.03796	GGA		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		87	63	0	0	0	0.01441	0	87	63		
JAG2	3714	broad.mit.edu	37	14	105618508	105618508	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:105618508G>A	ENST00000331782.3	-	6	1312	c.909C>T	c.(907-909)ctC>ctT	p.L303L	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.L303L	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	303	EGF-like 2; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CTTTGTCACAGAGCAGGCCGC	0.637																																						uc001yqg.2		NaN																	0				lung(3)|breast(2)	5						c.(907-909)CTC>CTT		jagged 2 isoform a precursor							84.0	76.0	78.0					14																	105618508		2203	4300	6503	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105618508G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.909C>T	14.37:g.105618508G>A						JAG2_uc001yqf.2_5'Flank|JAG2_uc001yqh.2_Silent_p.L303L	p.L303L	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	6	1313	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	303			Extracellular (Potential).|EGF-like 2; atypical.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.909C>T	CCDS9998.1																																																																																				0.637	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2				33	34	0	0	0	0.004289	0	33	34		
NIPA2	81614	broad.mit.edu	37	15	23012428	23012428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:23012428G>A	ENST00000337451.3	-	7	911	c.299C>T	c.(298-300)tCt>tTt	p.S100F	NIPA2_ENST00000398014.2_Missense_Mutation_p.S100F|NIPA2_ENST00000359727.4_Missense_Mutation_p.S81F|NIPA2_ENST00000398013.3_Missense_Mutation_p.S100F|NIPA2_ENST00000539711.2_Missense_Mutation_p.S81F	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	100						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AAAGTATGAAGAAAGAATGGC	0.318																																						uc001yux.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(298-300)TCT>TTT		non imprinted in Prader-Willi/Angelman syndrome							70.0	75.0	73.0					15																	23012428		2203	4300	6503	SO:0001583	missense	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23012428G>A	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.299C>T	15.37:g.23012428G>A	ENSP00000337618:p.Ser100Phe					NIPA2_uc001yuy.2_Missense_Mutation_p.S100F|NIPA2_uc001yuz.2_Missense_Mutation_p.S100F|NIPA2_uc001yva.2_Missense_Mutation_p.S81F|NIPA2_uc001yvb.2_Missense_Mutation_p.S100F|NIPA2_uc010ayb.2_Missense_Mutation_p.S81F	p.S100F	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	7	912	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	100			Cytoplasmic (Potential).		F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	c.299C>T	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599737	0.87055	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.42	5.27	5.27	0.74061	.	0.101956	0.64402	D	0.000001	D	0.87382	0.6163	M	0.91768	3.24	0.80722	D	1	D;P	0.60160	0.987;0.911	P;D	0.65773	0.897;0.938	D	0.89992	0.4108	10	0.87932	D	0	-7.2931	19.2455	0.93901	0.0:0.0:1.0:0.0	.	81;100	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	F	100;100;81;100;81	ENSP00000337618:S100F;ENSP00000381096:S100F;ENSP00000352762:S81F;ENSP00000437746:S100F	ENSP00000337618:S100F	S	-	2	0	NIPA2	20563869	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.536000	0.98067	2.612000	0.88384	0.460000	0.39030	TCT		0.318	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1		NM_030922		59	101	0	0	0	0.01441	0	59	101		
UBE3A	7337	broad.mit.edu	37	15	25584354	25584354	+	Missense_Mutation	SNP	G	G	A	rs587781228		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:25584354G>A	ENST00000397954.2	-	11	2557	c.2558C>T	c.(2557-2559)tCa>tTa	p.S853L	UBE3A_ENST00000232165.3_Missense_Mutation_p.S850L|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.S830L|SNHG14_ENST00000452731.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.S830L|UBE3A_ENST00000566215.1_Missense_Mutation_p.S830L			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	853	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTCTTTGCTTGAGTATTCCGG	0.333																																						uc001zaq.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(2557-2559)TCA>TTA		ubiquitin protein ligase E3A isoform 2							93.0	88.0	89.0					15																	25584354		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25584354G>A	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2558C>T	15.37:g.25584354G>A	ENSP00000381045:p.Ser853Leu					uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.S830L|UBE3A_uc001zas.2_Missense_Mutation_p.S850L|UBE3A_uc001zat.2_Missense_Mutation_p.S830L	p.S853L	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	11	2558	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	853			HECT.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.2558C>T	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789799	0.90367	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.38	5.38	0.77491	HECT (4);	0.194160	0.45126	D	0.000400	D	0.91720	0.7382	M	0.83312	2.635	0.80722	D	1	B;P	0.52061	0.424;0.95	B;P	0.56514	0.15;0.8	D	0.92360	0.5896	10	0.59425	D	0.04	.	19.1347	0.93422	0.0:0.0:1.0:0.0	.	850;853	Q05086-3;Q05086	.;UBE3A_HUMAN	L	850;850;853;830;830	ENSP00000232165:S850L;ENSP00000381045:S853L;ENSP00000411258:S830L;ENSP00000401265:S830L	ENSP00000232165:S850L	S	-	2	0	UBE3A	23135447	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.550000	0.73905	2.522000	0.85027	0.460000	0.39030	TCA		0.333	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1		NM_000462		22	63	0	0	0	0.00278	0	22	63		
GABRA5	2558	broad.mit.edu	37	15	27188493	27188493	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:27188493G>C	ENST00000335625.5	+	10	1897	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	GABRA5_ENST00000355395.5_Missense_Mutation_p.E337Q|GABRA5_ENST00000400081.3_Missense_Mutation_p.E337Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	337					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GGCGCTGATAGAGTTTGCCAC	0.542																																						uc001zbd.1		NaN																	0				ovary(1)	1						c.(1009-1011)GAG>CAG		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						35.0	39.0	38.0					15																	27188493		2053	4236	6289	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27188493G>C		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1009G>C	15.37:g.27188493G>C	ENSP00000335592:p.Glu337Gln					GABRA5_uc001zbe.1_5'Flank	p.E337Q	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	11	1348	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	337			Helical; (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.1009G>C	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	-	26.9	4.780451	0.90195	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.87571	-2.27;-2.27;-2.27	5.27	5.27	0.74061	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.098394	0.64402	D	0.000002	D	0.93569	0.7947	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94089	0.7351	10	0.87932	D	0	.	18.2599	0.90031	0.0:0.0:1.0:0.0	.	337	P31644	GBRA5_HUMAN	Q	337	ENSP00000335592:E337Q;ENSP00000347557:E337Q;ENSP00000382953:E337Q	ENSP00000335592:E337Q	E	+	1	0	GABRA5	24771239	1.000000	0.71417	0.961000	0.40146	0.966000	0.64601	9.592000	0.98245	2.626000	0.88956	0.651000	0.88453	GAG		0.542	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1				6	9	0	0	0	0.001168	0	6	9		
RYR3	6263	broad.mit.edu	37	15	33941338	33941338	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:33941338G>T	ENST00000389232.4	+	31	4114	c.4044G>T	c.(4042-4044)gtG>gtT	p.V1348V	RYR3_ENST00000415757.3_Silent_p.V1348V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1348	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGGATGGGTGACTCCAGACT	0.532																																						uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(4042-4044)GTG>GTT		ryanodine receptor 3							120.0	123.0	122.0					15																	33941338		1968	4157	6125	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33941338G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4044G>T	15.37:g.33941338G>T						RYR3_uc010bar.2_Silent_p.V1348V	p.V1348V	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	31	4114	+		all_lung(180;7.18e-09)	1348			4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.4044G>T	CCDS45210.1																																																																																				0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				29	118	1	0	3.73988e-18	0.00632	3.95109e-18	29	118		
PGBD4	161779	broad.mit.edu	37	15	34395021	34395021	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:34395021G>A	ENST00000397766.2	+	1	748	c.289G>A	c.(289-291)Gat>Aat	p.D97N	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	97										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CAGAAAAGTCGATGTCAGTGA	0.433																																						uc001zho.2		NaN																	0					0						c.(289-291)GAT>AAT		piggyBac transposable element derived 4							53.0	50.0	51.0					15																	34395021		2201	4298	6499	SO:0001583	missense	161779							g.chr15:34395021G>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.289G>A	15.37:g.34395021G>A	ENSP00000380872:p.Asp97Asn					C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	p.D97N	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	748	+		all_lung(180;1.76e-08)	97					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.289G>A	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	g	12.54	1.970022	0.34754	.	.	ENSG00000182405	ENST00000397766	T	0.18174	2.23	1.09	1.09	0.20402	.	2.153300	0.03819	U	0.267201	T	0.07728	0.0194	N	0.08118	0	0.09310	N	0.999994	P	0.36412	0.552	B	0.26202	0.067	T	0.23904	-1.0175	10	0.17369	T	0.5	.	8.0467	0.30553	0.0:0.0:1.0:0.0	.	97	Q96DM1	PGBD4_HUMAN	N	97	ENSP00000380872:D97N	ENSP00000380872:D97N	D	+	1	0	PGBD4	32182313	0.858000	0.29795	0.090000	0.20809	0.925000	0.55904	0.020000	0.13466	0.900000	0.36469	0.298000	0.19748	GAT		0.433	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1				36	33	0	0	0	0.013726	0	36	33		
AQR	9716	broad.mit.edu	37	15	35189812	35189812	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:35189812C>T	ENST00000156471.5	-	21	2563	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	780					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACATGGGGCTCAACAATTAAG	0.368																																						uc001ziv.2		NaN																	0				large_intestine(1)	1						c.(2338-2340)GAG>AAG		aquarius							110.0	105.0	107.0					15																	35189812		1850	4092	5942	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35189812C>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2338G>A	15.37:g.35189812C>T	ENSP00000156471:p.Glu780Lys						p.E780K	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	21	2519	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	780					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.2338G>A	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548689	0.65311	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93906	-3.31	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.91818	0.7411	L	0.54965	1.715	0.58432	D	0.999992	B	0.14805	0.011	B	0.17098	0.017	D	0.87524	0.2448	10	0.29301	T	0.29	-20.6841	19.5396	0.95268	0.0:1.0:0.0:0.0	.	780	O60306	AQR_HUMAN	K	780	ENSP00000156471:E780K	ENSP00000156471:E780K	E	-	1	0	AQR	32977104	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.452000	0.80683	2.611000	0.88343	0.591000	0.81541	GAG		0.368	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2		NM_014691		22	91	0	0	0	0.012319	0	22	91		
AQR	9716	broad.mit.edu	37	15	35230975	35230975	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:35230975C>T	ENST00000156471.5	-	9	906	c.681G>A	c.(679-681)caG>caA	p.Q227Q		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	227					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGATAAACTTCTGGATGAGTT	0.338																																						uc001ziv.2		NaN																	0				large_intestine(1)	1						c.(679-681)CAG>CAA		aquarius							132.0	119.0	123.0					15																	35230975		1808	4082	5890	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35230975C>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.681G>A	15.37:g.35230975C>T							p.Q227Q	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	9	862	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	227					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.681G>A	CCDS42013.1																																																																																				0.338	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2		NM_014691		17	119	0	0	0	0.004007	0	17	119		
C15orf54	400360	broad.mit.edu	37	15	39544580	39544580	+	Missense_Mutation	SNP	C	C	G	rs200026207		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:39544580C>G	ENST00000318578.3	+	2	612	c.244C>G	c.(244-246)Caa>Gaa	p.Q82E	C15orf54_ENST00000561223.1_Missense_Mutation_p.Q82E|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	82										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GACATCACATCAAATCATCCA	0.448																																						uc001zkg.2		NaN																	0					0						c.(244-246)CAA>GAA		hypothetical protein LOC400360							133.0	135.0	134.0					15																	39544580		2200	4297	6497	SO:0001583	missense	400360							g.chr15:39544580C>G		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.244C>G	15.37:g.39544580C>G	ENSP00000323686:p.Gln82Glu						p.Q82E	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	612	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	82					B7ZVZ9	Missense_Mutation	SNP	ENST00000318578.3	37	c.244C>G	CCDS10049.1	.	.	.	.	.	.	.	.	.	.	C	2.159	-0.392741	0.04899	.	.	ENSG00000175746	ENST00000318578	T	0.35789	1.29	5.07	3.13	0.36017	.	.	.	.	.	T	0.19485	0.0468	N	0.08118	0	0.09310	N	0.999997	P	0.36144	0.539	B	0.36134	0.218	T	0.10451	-1.0629	9	0.87932	D	0	.	7.2659	0.26229	0.0:0.7363:0.1711:0.0926	.	82	Q8N8G6	CO054_HUMAN	E	82	ENSP00000323686:Q82E	ENSP00000323686:Q82E	Q	+	1	0	C15orf54	37331872	0.214000	0.23563	0.509000	0.27700	0.064000	0.16182	0.267000	0.18552	1.344000	0.45657	0.655000	0.94253	CAA		0.448	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1		NM_207445		40	150	0	0	0	0.005524	0	40	150		
BMF	90427	broad.mit.edu	37	15	40396422	40396422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:40396422G>A	ENST00000354670.4	-	4	646	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	BMF_ENST00000561282.1_Nonsense_Mutation_p.Q138*|BMF_ENST00000561360.1_Nonsense_Mutation_p.Q138*|BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Intron|BMF_ENST00000559701.1_Intron|BMF_ENST00000397573.1_Nonsense_Mutation_p.Q138*|BMF_ENST00000220446.4_Intron	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	138					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		GCAATGCACTGAAGCTTTCGG	0.612																																						uc001zkv.2		NaN																	0				ovary(1)	1						c.(412-414)CAG>TAG		Bcl2 modifying factor isoform bmf-1							173.0	154.0	161.0					15																	40396422		2203	4300	6503	SO:0001587	stop_gained	90427				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding	g.chr15:40396422G>A	BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.412C>T	15.37:g.40396422G>A	ENSP00000346697:p.Gln138*					BMF_uc001zkt.2_Intron|BMF_uc001zku.2_Intron|BMF_uc001zkw.2_Nonsense_Mutation_p.Q138*	p.Q138*	NM_033503	NP_277038	Q96LC9	BMF_HUMAN		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)	3	498	-		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	138			BH3.		Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Nonsense_Mutation	SNP	ENST00000354670.4	37	c.412C>T	CCDS10052.1	.	.	.	.	.	.	.	.	.	.	G	37	6.249950	0.97412	.	.	ENSG00000104081	ENST00000354670;ENST00000397573	.	.	.	5.91	5.91	0.95273	.	0.099631	0.44902	D	0.000416	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.1227	20.2983	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000346697:Q138X	Q	-	1	0	BMF	38183714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.382000	0.73167	2.802000	0.96397	0.655000	0.94253	CAG		0.612	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252119.1		NM_033503		84	90	0	0	0	0.01441	0	84	90		
BUB1B	701	broad.mit.edu	37	15	40505608	40505608	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:40505608G>A	ENST00000287598.6	+	20	2806	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	BUB1B_ENST00000412359.3_Missense_Mutation_p.E885K	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	871	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GACAATAGTGGAGATGCTACA	0.378			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3		NaN	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				stomach(2)|ovary(1)|kidney(1)	4						c.(2611-2613)GAG>AAG		budding uninhibited by benzimidazoles 1 beta							134.0	135.0	135.0					15																	40505608		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40505608G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2611G>A	15.37:g.40505608G>A	ENSP00000287598:p.Glu871Lys						p.E871K	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	20	2823	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	871			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.2611G>A	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585705	0.86748	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.65549	-0.16;-0.16	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.67748	0.2926	L	0.35414	1.06	0.44366	D	0.997268	D	0.52996	0.957	P	0.56788	0.806	T	0.68808	-0.5311	10	0.49607	T	0.09	-10.6551	18.94	0.92601	0.0:0.0:1.0:0.0	.	871	O60566	BUB1B_HUMAN	K	871;885;754	ENSP00000287598:E871K;ENSP00000398470:E885K	ENSP00000287598:E871K	E	+	1	0	BUB1B	38292900	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	3.956000	0.56722	2.464000	0.83262	0.561000	0.74099	GAG		0.378	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4				28	74	0	0	0	0.005443	0	28	74		
CHST14	113189	broad.mit.edu	37	15	40763862	40763862	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:40763862C>G	ENST00000306243.5	+	1	703	c.450C>G	c.(448-450)ctC>ctG	p.L150L	CHST14_ENST00000559991.1_Intron	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	150					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		ACCGCTTCCTCTACTGCTACG	0.662																																						uc001zlw.2		NaN																	0					0						c.(448-450)CTC>CTG		dermatan 4 sulfotransferase 1							55.0	49.0	51.0					15																	40763862		2203	4300	6503	SO:0001819	synonymous_variant	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40763862C>G	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.450C>G	15.37:g.40763862C>G							p.L150L	NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	650	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	150			Lumenal (Potential).		Q6PJ31|Q6UXA0|Q96P94	Silent	SNP	ENST00000306243.5	37	c.450C>G	CCDS10059.1																																																																																				0.662	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1		NM_130468		17	36	0	0	0	0.00499	0	17	36		
CHST14	113189	broad.mit.edu	37	15	40764104	40764104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:40764104G>A	ENST00000306243.5	+	1	945	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	CHST14_ENST00000559991.1_Missense_Mutation_p.R206Q	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	231					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGCGAGATCCGAGAGTACCAG	0.597																																						uc001zlw.2		NaN																	0					0						c.(691-693)CGA>CAA		dermatan 4 sulfotransferase 1							84.0	93.0	90.0					15																	40764104		2203	4300	6503	SO:0001583	missense	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40764104G>A	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.692G>A	15.37:g.40764104G>A	ENSP00000307297:p.Arg231Gln						p.R231Q	NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	892	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	231			Lumenal (Potential).		Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	ENST00000306243.5	37	c.692G>A	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551089	0.65311	.	.	ENSG00000169105	ENST00000306243	T	0.72942	-0.7	5.01	5.01	0.66863	.	0.401882	0.23718	N	0.045256	T	0.52533	0.1740	N	0.20986	0.625	0.39368	D	0.966032	B	0.24920	0.114	B	0.19391	0.025	T	0.50145	-0.8862	10	0.21540	T	0.41	-17.6039	9.2733	0.37684	0.0954:0.0:0.9046:0.0	.	231	Q8NCH0	CHSTE_HUMAN	Q	231	ENSP00000307297:R231Q	ENSP00000307297:R231Q	R	+	2	0	CHST14	38551396	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.250000	0.65432	2.610000	0.88304	0.655000	0.94253	CGA		0.597	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1		NM_130468		42	95	0	0	0	0.01441	0	42	95		
TYRO3	7301	broad.mit.edu	37	15	41865267	41865267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:41865267C>T	ENST00000263798.3	+	16	2167	c.1943C>T	c.(1942-1944)tCt>tTt	p.S648F	TYRO3_ENST00000559066.1_Missense_Mutation_p.S603F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	648	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TACCTGAGCTCTCGGAACTTC	0.572																																						uc001zof.1		NaN																	0				ovary(3)|lung(2)|central_nervous_system(1)	6						c.(1942-1944)TCT>TTT		TYRO3 protein tyrosine kinase precursor							79.0	72.0	74.0					15																	41865267		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41865267C>T	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1943C>T	15.37:g.41865267C>T	ENSP00000263798:p.Ser648Phe						p.S648F	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	16	2167	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	648			Protein kinase.|Cytoplasmic (Potential).		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.1943C>T	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061143	0.76074	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.66815	-0.23	5.61	4.67	0.58626	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.352847	0.20812	N	0.085225	T	0.82190	0.4983	M	0.83483	2.645	0.48762	D	0.999709	D	0.58970	0.984	D	0.65987	0.94	D	0.84685	0.0719	10	0.62326	D	0.03	-8.959	15.6868	0.77418	0.138:0.862:0.0:0.0	.	648	Q06418	TYRO3_HUMAN	F	580;648	ENSP00000263798:S648F	ENSP00000263798:S648F	S	+	2	0	TYRO3	39652559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.136000	0.64783	1.333000	0.45449	0.650000	0.86243	TCT		0.572	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2				43	37	0	0	0	0.011902	0	43	37		
UBR1	197131	broad.mit.edu	37	15	43307928	43307928	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:43307928G>A	ENST00000290650.4	-	29	3245	c.3167C>T	c.(3166-3168)tCa>tTa	p.S1056L	UBR1_ENST00000568782.1_5'UTR|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1056					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGGCATTTCTGATGTATTGTC	0.353																																						uc001zqq.2		NaN																	0				lung(1)	1						c.(3166-3168)TCA>TTA		ubiquitin protein ligase E3 component n-recognin							182.0	182.0	182.0					15																	43307928		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43307928G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3167C>T	15.37:g.43307928G>A	ENSP00000290650:p.Ser1056Leu					UBR1_uc010udk.1_Missense_Mutation_p.S1056L	p.S1056L	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	29	3233	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1056					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.3167C>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983495	0.35036	.	.	ENSG00000159459	ENST00000290650	T	0.33865	1.39	5.56	4.57	0.56435	.	0.472486	0.23008	N	0.052996	T	0.10294	0.0252	N	0.01109	-1.01	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28004	-1.0057	10	0.25106	T	0.35	-14.5038	3.096	0.06309	0.1871:0.0:0.5606:0.2524	.	1056;1056	B4DYL2;Q8IWV7	.;UBR1_HUMAN	L	1056	ENSP00000290650:S1056L	ENSP00000290650:S1056L	S	-	2	0	UBR1	41095220	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.164000	0.50770	2.890000	0.99128	0.655000	0.94253	TCA		0.353	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1		NM_174916		57	189	0	0	0	0.01441	0	57	189		
TMEM62	80021	broad.mit.edu	37	15	43476562	43476562	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:43476562G>A	ENST00000260403.2	+	14	1989	c.1710G>A	c.(1708-1710)ttG>ttA	p.L570L	CCNDBP1_ENST00000300213.4_5'Flank|RP11-473C18.3_ENST00000565685.1_RNA|CCNDBP1_ENST00000356633.5_5'Flank|EPB42_ENST00000563128.1_Intron|TMEM62_ENST00000569369.1_3'UTR	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	570						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GAAAATACTTGAAAATTATGC	0.418																																						uc001zqr.2		NaN																	0				ovary(1)|breast(1)	2						c.(1708-1710)TTG>TTA		transmembrane protein 62							217.0	208.0	211.0					15																	43476562		2203	4299	6502	SO:0001819	synonymous_variant	80021					integral to membrane		g.chr15:43476562G>A	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1710G>A	15.37:g.43476562G>A						TMEM62_uc010bda.2_Silent_p.L405L|TMEM62_uc001zqt.2_Silent_p.L139L|CCNDBP1_uc001zqu.2_5'Flank|CCNDBP1_uc001zqv.2_5'Flank|CCNDBP1_uc010bdc.2_5'Flank|CCNDBP1_uc010bdb.2_5'Flank|CCNDBP1_uc010udl.1_5'Flank|CCNDBP1_uc001zqw.2_5'Flank|CCNDBP1_uc001zqx.2_5'Flank|CCNDBP1_uc010bdd.2_5'Flank|CCNDBP1_uc001zqy.2_5'Flank	p.L570L	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	14	1989	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	570					Q6I9Y5|Q9H5J6	Silent	SNP	ENST00000260403.2	37	c.1710G>A	CCDS32210.1																																																																																				0.418	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1		NM_024956		146	156	0	0	0	0.01441	0	146	156		
EPB42	2038	broad.mit.edu	37	15	43489643	43489643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:43489643C>T	ENST00000441366.2	-	13	2158	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	EPB42_ENST00000300215.3_Missense_Mutation_p.E675K|EPB42_ENST00000563128.1_Intron|EPB42_ENST00000540029.1_Missense_Mutation_p.E567K	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	645					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATGGTGTTTTCAGGCCACACT	0.498																																						uc001zra.3		NaN																	0				ovary(2)	2						c.(1933-1935)GAA>AAA		erythrocyte membrane protein band 4.2 isoform 2							106.0	92.0	97.0					15																	43489643		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43489643C>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1933G>A	15.37:g.43489643C>T	ENSP00000396616:p.Glu645Lys					EPB42_uc001zqz.3_Missense_Mutation_p.E312K|EPB42_uc010bde.2_Silent_p.*436*|EPB42_uc001zrb.3_Missense_Mutation_p.E675K|EPB42_uc010udm.1_Missense_Mutation_p.E567K	p.E645K	NM_001114134	NP_001107606	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	13	2233	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	645					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.1933G>A	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404864	0.25378	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.28255	1.62;1.62;1.62	5.16	3.29	0.37713	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.360668	0.30528	N	0.009424	T	0.11024	0.0269	N	0.03608	-0.345	0.18873	N	0.999988	B;B;B	0.17465	0.022;0.006;0.004	B;B;B	0.18871	0.023;0.003;0.002	T	0.34725	-0.9817	10	0.02654	T	1	-3.3109	9.6839	0.40087	0.0:0.8314:0.0:0.1686	.	567;675;645	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	K	675;567;645;573	ENSP00000300215:E675K;ENSP00000444699:E567K;ENSP00000396616:E645K	ENSP00000300215:E675K	E	-	1	0	EPB42	41276935	0.000000	0.05858	0.267000	0.24556	0.051000	0.14879	0.144000	0.16135	0.762000	0.33152	0.655000	0.94253	GAA		0.498	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1		NM_000119		32	41	0	0	0	0.013726	0	32	41		
DUOX2	50506	broad.mit.edu	37	15	45386349	45386349	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:45386349C>T	ENST00000603300.1	-	34	4848	c.4646G>A	c.(4645-4647)tGa>tAa	p.*1549*	DUOX2_ENST00000389039.6_Silent_p.*1549*	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	0					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGGACAGGCTCAGAAGTTCTC	0.557																																						uc010bea.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(4645-4647)TGA>TAA		dual oxidase 2 precursor							140.0	122.0	128.0					15																	45386349		2198	4298	6496	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45386349C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4646G>A	15.37:g.45386349C>T						DUOX2_uc001zun.2_Silent_p.*1549*	p.*1549*	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	34	4849	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1549					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.4646G>A	CCDS10117.1																																																																																				0.557	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_014080		10	43	0	0	0	0.010729	0	10	43		
DUOX1	53905	broad.mit.edu	37	15	45445633	45445633	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:45445633C>T	ENST00000321429.4	+	27	3887	c.3480C>T	c.(3478-3480)ctC>ctT	p.L1160L	DUOX1_ENST00000561166.1_Silent_p.L806L|DUOX1_ENST00000559221.1_3'UTR|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.L1160L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1160	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCAGCCCCCTCAGCGTCCTCT	0.537																																						uc001zus.1		NaN																	0				ovary(5)|skin(2)|breast(1)	8						c.(3478-3480)CTC>CTT		dual oxidase 1 precursor							305.0	233.0	258.0					15																	45445633		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45445633C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3480C>T	15.37:g.45445633C>T						DUOX1_uc001zut.1_Silent_p.L1160L|DUOX1_uc010bee.1_Silent_p.L540L	p.L1160L	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	27	3826	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1160			Helical; (Potential).|Interaction with TXNDC11 (By similarity).|Ferric oxidoreductase.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.3480C>T	CCDS32221.1																																																																																				0.537	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1		NM_017434		29	101	0	0	0	0.009535	0	29	101		
DUOX1	53905	broad.mit.edu	37	15	45460156	45460156	+	IGR	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:45460156G>C	ENST00000321429.4	+	0	5738				SHF_ENST00000560540.1_3'UTR|SHF_ENST00000560734.1_3'UTR|SHF_ENST00000458022.2_Missense_Mutation_p.R237G|SHF_ENST00000318390.6_Missense_Mutation_p.R431G|SHF_ENST00000290894.8_Missense_Mutation_p.R421G|RP11-519G16.2_ENST00000560034.1_RNA|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1						cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TAAAGAGTCCGGATGGCCACA	0.587											OREG0023104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zuy.2		NaN																	0				ovary(1)	1						c.(1261-1263)CGG>GGG		Src homology 2 domain containing F							81.0	85.0	84.0					15																	45460156		2019	4180	6199	SO:0001628	intergenic_variant	90525							g.chr15:45460156G>C	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9			15.37:g.45460156G>C			OREG0023104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	SHF_uc010uen.1_Missense_Mutation_p.R237G|SHF_uc010ueo.1_Missense_Mutation_p.R237G|SHF_uc010uep.1_3'UTR|SHF_uc010ueq.1_Missense_Mutation_p.R197G|SHF_uc010uer.1_3'UTR	p.R421G	NM_138356	NP_612365	Q7M4L6	SHF_HUMAN		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)	8	1756	-		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	Error:Variant_position_missing_in_B3KTY1_after_alignment					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.1261C>G	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522999	0.85600	.	.	ENSG00000138606	ENST00000290894;ENST00000318390;ENST00000458022;ENST00000413198	T;T;T	0.61510	0.1;0.1;0.1	5.64	5.64	0.86602	.	0.051988	0.85682	D	0.000000	T	0.69415	0.3108	L	0.60455	1.87	0.80722	D	1	D;D	0.56287	0.975;0.975	P;P	0.56916	0.809;0.647	T	0.71862	-0.4464	10	0.87932	D	0	-18.8301	17.181	0.86855	0.0:0.0:1.0:0.0	.	364;421	E7EWB7;Q7M4L6	.;SHF_HUMAN	G	421;431;237;364	ENSP00000290894:R421G;ENSP00000315978:R431G;ENSP00000411530:R237G	ENSP00000290894:R421G	R	-	1	2	SHF	43247448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.767000	0.62286	2.663000	0.90544	0.561000	0.74099	CGG		0.587	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1		NM_017434		12	29	0	0	0	0.001855	0	12	29		
SHC4	399694	broad.mit.edu	37	15	49176534	49176534	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:49176534C>A	ENST00000332408.4	-	4	1179	c.751G>T	c.(751-753)Ggc>Tgc	p.G251C		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	251	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TTACTTTTGCCAAGGACTGTT	0.318																																						uc001zxb.1		NaN																	0				ovary(3)|pancreas(2)	5						c.(751-753)GGC>TGC		rai-like protein							102.0	101.0	101.0					15																	49176534		2196	4295	6491	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49176534C>A	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.751G>T	15.37:g.49176534C>A	ENSP00000329668:p.Gly251Cys						p.G251C	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	4	1180	-		all_lung(180;0.00466)	251			PID.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.751G>T	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188554	0.78789	.	.	ENSG00000185634	ENST00000332408	T	0.15834	2.39	5.14	5.14	0.70334	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.49712	0.1573	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57266	-0.7841	10	0.87932	D	0	-37.8302	18.3887	0.90474	0.0:1.0:0.0:0.0	.	251	Q6S5L8	SHC4_HUMAN	C	251	ENSP00000329668:G251C	ENSP00000329668:G251C	G	-	1	0	SHC4	46963826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.790000	0.69038	2.670000	0.90874	0.655000	0.94253	GGC		0.318	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1		NM_203349		15	50	1	0	6.72482e-11	0.003163	7.01243e-11	15	50		
LEO1	123169	broad.mit.edu	37	15	52250986	52250986	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:52250986C>G	ENST00000299601.5	-	6	1258	c.1198G>C	c.(1198-1200)Gat>Cat	p.D400H	LEO1_ENST00000315141.5_Intron	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	400					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		ATTTCTTCATCTTCAAATTCA	0.274																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	uc002abo.2		NaN																	0					0						c.(1198-1200)GAT>CAT		Leo1, Paf1/RNA polymerase II complex component,							83.0	83.0	83.0					15																	52250986		2194	4287	6481	SO:0001583	missense	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52250986C>G	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1198G>C	15.37:g.52250986C>G	ENSP00000299601:p.Asp400His					LEO1_uc010bfd.2_Intron	p.D400H	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	6	1214	-			400					Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	c.1198G>C	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595557	0.86953	.	.	ENSG00000166477	ENST00000299601;ENST00000538386	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.80074	-0.1534	9	0.72032	D	0.01	.	19.1407	0.93445	0.0:1.0:0.0:0.0	.	400	Q8WVC0	LEO1_HUMAN	H	400;378	.	ENSP00000299601:D400H	D	-	1	0	LEO1	50038278	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.613000	0.82986	2.619000	0.88677	0.557000	0.71058	GAT		0.274	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2		NM_138792		22	65	0	0	0	0.014323	0	22	65		
GNB5	10681	broad.mit.edu	37	15	52416747	52416747	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:52416747C>T	ENST00000261837.7	-	12	1164	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	GNB5_ENST00000358784.7_Missense_Mutation_p.E325K|GNB5_ENST00000396335.4_Missense_Mutation_p.E255K|GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000557898.1_RNA|CTD-2184D3.6_ENST00000559825.1_lincRNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	367					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		ACGCGGTTTTCATGTCCAAAC	0.498																																						uc002abt.1		NaN																	0				lung(1)	1						c.(1099-1101)GAA>AAA		guanine nucleotide-binding protein, beta-5							119.0	115.0	116.0					15																	52416747		2195	4293	6488	SO:0001583	missense	10681					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52416747C>T	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.1099G>A	15.37:g.52416747C>T	ENSP00000261837:p.Glu367Lys					GNB5_uc002abr.1_Missense_Mutation_p.E325K|GNB5_uc002abs.1_Missense_Mutation_p.E255K	p.E367K	NM_016194	NP_057278	O14775	GBB5_HUMAN		all cancers(107;0.0163)	12	1164	-			367			WD 7.		B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.1099G>A	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	C	37	5.988693	0.97179	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.62364	0.03	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72676	0.3490	L	0.34521	1.04	0.80722	D	1	P;D	0.63046	0.613;0.992	B;D	0.69824	0.16;0.966	T	0.73736	-0.3889	10	0.72032	D	0.01	-37.4548	20.3018	0.98617	0.0:1.0:0.0:0.0	.	367;255	O14775;O14775-3	GBB5_HUMAN;.	K	367;325;165;255	ENSP00000261837:E367K	ENSP00000261837:E367K	E	-	1	0	GNB5	50204039	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.647000	0.83462	2.806000	0.96561	0.644000	0.83932	GAA		0.498	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1				18	56	0	0	0	0.006122	0	18	56		
TEX9	374618	broad.mit.edu	37	15	56665652	56665652	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:56665652G>C	ENST00000352903.2	+	3	157	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	TEX9_ENST00000561221.2_Missense_Mutation_p.E45Q|TEX9_ENST00000537232.1_5'UTR|TEX9_ENST00000558083.2_5'UTR|TEX9_ENST00000559142.1_3'UTR	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	45										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TTTAAATGCAGAATTGCAGGC	0.284																																						uc002adp.2		NaN																	0					0						c.(133-135)GAA>CAA		testis expressed 9							41.0	42.0	41.0					15																	56665652		2193	4289	6482	SO:0001583	missense	374618							g.chr15:56665652G>C	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.133G>C	15.37:g.56665652G>C	ENSP00000342169:p.Glu45Gln					TEX9_uc002ado.1_Missense_Mutation_p.E45Q|TEX9_uc010ugl.1_5'UTR|TEX9_uc002adq.1_5'UTR	p.E45Q	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	3	138	+			45					B4DH73	Missense_Mutation	SNP	ENST00000352903.2	37	c.133G>C	CCDS10157.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008793	0.54361	.	.	ENSG00000151575	ENST00000352903	.	.	.	4.55	4.55	0.56014	.	0.059432	0.64402	D	0.000003	T	0.66056	0.2751	M	0.70275	2.135	0.80722	D	1	D	0.52996	0.957	P	0.52793	0.709	T	0.67428	-0.5673	9	0.44086	T	0.13	-27.026	12.9969	0.58652	0.0:0.0:1.0:0.0	.	45	Q8N6V9	TEX9_HUMAN	Q	45	.	ENSP00000342169:E45Q	E	+	1	0	TEX9	54452944	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	4.999000	0.63934	2.517000	0.84864	0.591000	0.81541	GAA		0.284	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2		NM_198524		13	24	0	0	0	0.00245	0	13	24		
TCF12	6938	broad.mit.edu	37	15	57565345	57565345	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:57565345C>T	ENST00000267811.5	+	18	2095	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	TCF12_ENST00000333725.5_Silent_p.F621F|TCF12_ENST00000543579.1_Silent_p.F451F|TCF12_ENST00000452095.2_Silent_p.F617F|TCF12_ENST00000557843.1_Silent_p.F597F|TCF12_ENST00000343827.3_Silent_p.F427F|TCF12_ENST00000438423.2_Silent_p.F621F|TCF12_ENST00000559703.1_Silent_p.F254F|TCF12_ENST00000537840.1_Silent_p.F361F|TCF12_ENST00000559710.1_Silent_p.F231F	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	597	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATGAAGCATTCAAAGAGCTTG	0.458			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.2		NaN		Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma		0				central_nervous_system(5)|ovary(2)|lung(1)	8						c.(1789-1791)TTC>TTT		transcription factor 12 isoform b							99.0	104.0	103.0					15																	57565345		2192	4292	6484	SO:0001819	synonymous_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57565345C>T	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1791C>T	15.37:g.57565345C>T						TCF12_uc010ugm.1_Silent_p.F649F|TCF12_uc010ugn.1_Silent_p.F617F|TCF12_uc002aea.2_Silent_p.F621F|TCF12_uc010bfs.2_Silent_p.F18F|TCF12_uc002aeb.2_Silent_p.F621F|TCF12_uc002aed.2_Silent_p.F597F|TCF12_uc002aee.2_Silent_p.F427F|TCF12_uc010bft.2_Silent_p.F451F|TCF12_uc010ugo.1_Silent_p.F361F|TCF12_uc010ugp.1_Silent_p.F254F|TCF12_uc010ugq.1_Silent_p.F231F|TCF12_uc010ugr.1_Silent_p.F210F	p.F597F	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	18	2075	+		Colorectal(260;0.0907)	597			Helix-loop-helix motif.		Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	ENST00000267811.5	37	c.1791C>T	CCDS10159.1																																																																																				0.458	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3		NM_003205		17	57	0	0	0	0.004007	0	17	57		
ADAM10	102	broad.mit.edu	37	15	58904123	58904123	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:58904123C>T	ENST00000260408.3	-	12	2022	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.D226N|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	527	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CAGTCTGAATCATCCCGACAC	0.428																																						uc002afd.1		NaN																	0				skin(2)	2						c.(1579-1581)GAT>AAT		ADAM metallopeptidase domain 10 precursor							142.0	111.0	121.0					15																	58904123		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58904123C>T	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1579G>A	15.37:g.58904123C>T	ENSP00000260408:p.Asp527Asn					ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.D226N|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.D64N	p.D527N	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	12	2023	-			527			Extracellular (Potential).|Disintegrin.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1579G>A	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946005	0.92593	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.11169	2.8;2.8	5.68	5.68	0.88126	Blood coagulation inhibitor, Disintegrin (5);	0.093379	0.85682	D	0.000000	T	0.11836	0.0288	L	0.33624	1.015	0.80722	D	1	B;B;B	0.13145	0.007;0.003;0.006	B;B;B	0.19946	0.027;0.027;0.018	T	0.15065	-1.0450	10	0.26408	T	0.33	-26.7899	19.8015	0.96509	0.0:1.0:0.0:0.0	.	226;346;527	B4DU28;A8MY20;O14672	.;.;ADA10_HUMAN	N	527;346;226	ENSP00000260408:D527N;ENSP00000379444:D226N	ENSP00000260408:D527N	D	-	1	0	ADAM10	56691415	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.678000	0.91216	0.650000	0.86243	GAT		0.428	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2		NM_001110		23	57	0	0	0	0.00333	0	23	57		
GTF2A2	2958	broad.mit.edu	37	15	59942969	59942969	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:59942969G>A	ENST00000396060.2	-	3	257	c.76C>T	c.(76-78)Caa>Taa	p.Q26*	GTF2A2_ENST00000396061.1_Nonsense_Mutation_p.Q26*|GTF2A2_ENST00000267869.4_Intron|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000484743.1_Intron|GTF2A2_ENST00000396064.3_Nonsense_Mutation_p.Q26*|GTF2A2_ENST00000396063.1_Nonsense_Mutation_p.Q26*	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	26					gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(2)|kidney(2)|lung(1)	5						GTGATCTGTTGAGACTGAGAA	0.368																																						uc002agg.2		NaN																	0				central_nervous_system(2)	2						c.(76-78)CAA>TAA		general transcription factor IIA, 2, 12kDa							68.0	66.0	67.0					15																	59942969		2190	4290	6480	SO:0001587	stop_gained	2958				interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr15:59942969G>A	BC001919	CCDS10173.1	15q21.3	2010-03-23	2002-08-29		ENSG00000140307	ENSG00000140307		"""General transcription factors"""	4647	protein-coding gene	gene with protein product		600519	"""general transcription factor IIA, 2 (12kD subunit)"""			7958899	Standard	NM_004492		Approved	TFIIA, HsT18745	uc002agg.3	P52657	OTTHUMG00000132725	ENST00000396060.2:c.76C>T	15.37:g.59942969G>A	ENSP00000379372:p.Gln26*						p.Q26*	NM_004492	NP_004483	P52657	T2AG_HUMAN			3	258	-			26					A8MYQ7|Q6FGB5	Nonsense_Mutation	SNP	ENST00000396060.2	37	c.76C>T	CCDS10173.1	.	.	.	.	.	.	.	.	.	.	G	39	7.426251	0.98275	.	.	ENSG00000140307	ENST00000396060;ENST00000396064;ENST00000396063;ENST00000396061	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-5.3973	19.3761	0.94510	0.0:0.0:1.0:0.0	.	.	.	.	X	26	.	ENSP00000379372:Q26X	Q	-	1	0	GTF2A2	57730261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.826000	0.92034	2.571000	0.86741	0.555000	0.69702	CAA		0.368	GTF2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256067.2		NM_004492		26	33	0	0	0	0.004656	0	26	33		
USP3	9960	broad.mit.edu	37	15	63850344	63850344	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:63850344T>G	ENST00000380324.3	+	6	619	c.490T>G	c.(490-492)Ttg>Gtg	p.L164V	USP3-AS1_ENST00000560067.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.L75V|USP3_ENST00000558285.1_Missense_Mutation_p.L147V|USP3_ENST00000539772.1_Intron|USP3_ENST00000536001.1_Intron|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.L120V|USP3_ENST00000268049.7_Missense_Mutation_p.L142V|USP3-AS1_ENST00000559357.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	164	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CCTTCGGAATTTGGGGAACAC	0.483																																						uc002amf.2		NaN																	0				lung(1)	1						c.(490-492)TTG>GTG		ubiquitin thiolesterase 3							158.0	130.0	140.0					15																	63850344		2203	4300	6503	SO:0001583	missense	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63850344T>G	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.490T>G	15.37:g.63850344T>G	ENSP00000369681:p.Leu164Val					USP3_uc010uii.1_Intron|USP3_uc002amg.2_Missense_Mutation_p.L79V|USP3_uc002amh.2_Missense_Mutation_p.L142V|USP3_uc010uij.1_Missense_Mutation_p.L120V|USP3_uc010uik.1_Intron|USP3_uc010bgs.2_Missense_Mutation_p.L147V|USP3_uc002ami.2_Translation_Start_Site	p.L164V	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	6	619	+			164					B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	c.490T>G	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517959	0.85495	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000536848	T;T;T	0.03860	3.78;3.78;3.78	5.79	-0.825	0.10809	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.11707	0.0285	M	0.82716	2.605	0.80722	D	1	P;P;P;P	0.46578	0.855;0.88;0.88;0.805	P;P;P;P	0.52031	0.561;0.688;0.688;0.688	T	0.02829	-1.1105	10	0.87932	D	0	.	5.6885	0.17817	0.0:0.4697:0.165:0.3652	.	120;120;142;164	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	V	120;164;142;79	ENSP00000445828:L120V;ENSP00000369681:L164V;ENSP00000268049:L142V	ENSP00000268049:L142V	L	+	1	2	USP3	61637397	0.855000	0.29742	0.996000	0.52242	0.998000	0.95712	0.003000	0.13083	0.051000	0.15978	0.528000	0.53228	TTG		0.483	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1				31	30	0	0	0	0.010818	0	31	30		
HERC1	8925	broad.mit.edu	37	15	64005075	64005075	+	Missense_Mutation	SNP	C	C	G	rs201335263	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64005075C>G	ENST00000443617.2	-	24	4570	c.4483G>C	c.(4483-4485)Gag>Cag	p.E1495Q	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1495					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCCGGCTCTCTGCAGTAAGA	0.398																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(4483-4485)GAG>CAG		hect domain and RCC1-like domain 1							70.0	62.0	65.0					15																	64005075		1873	4103	5976	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64005075C>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4483G>C	15.37:g.64005075C>G	ENSP00000390158:p.Glu1495Gln					HERC1_uc010uil.1_Missense_Mutation_p.E479Q	p.E1495Q	NM_003922	NP_003913	Q15751	HERC1_HUMAN			24	4631	-			1495					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.4483G>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469007	0.84533	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.25912	1.77	5.55	5.55	0.83447	.	0.000000	0.64402	U	0.000001	T	0.40473	0.1118	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.996;0.981	D;D	0.75484	0.986;0.954	T	0.28554	-1.0040	10	0.62326	D	0.03	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	479;1495	B4DKS2;Q15751	.;HERC1_HUMAN	Q	1495;479	ENSP00000390158:E1495Q	ENSP00000389613:E479Q	E	-	1	0	HERC1	61792128	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.304000	0.78882	2.768000	0.95171	0.655000	0.94253	GAG		0.398	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		8	19	0	0	0	0.00308	0	8	19		
HERC1	8925	broad.mit.edu	37	15	64005081	64005081	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64005081T>G	ENST00000443617.2	-	24	4564	c.4477A>C	c.(4477-4479)Act>Cct	p.T1493P	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1493					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCTCTGCAGTAAGACTTTCA	0.383																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(4477-4479)ACT>CCT		hect domain and RCC1-like domain 1							67.0	60.0	62.0					15																	64005081		1874	4103	5977	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64005081T>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4477A>C	15.37:g.64005081T>G	ENSP00000390158:p.Thr1493Pro					HERC1_uc010uil.1_Missense_Mutation_p.T477P	p.T1493P	NM_003922	NP_003913	Q15751	HERC1_HUMAN			24	4625	-			1493					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.4477A>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.221795	0.39300	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.25912	1.77	5.55	4.41	0.53225	.	0.068717	0.56097	U	0.000034	T	0.20659	0.0497	N	0.14661	0.345	0.45129	D	0.998142	P;P	0.47677	0.899;0.736	P;B	0.47573	0.55;0.282	T	0.02457	-1.1156	10	0.44086	T	0.13	.	12.1293	0.53934	0.1287:0.0:0.0:0.8713	.	477;1493	B4DKS2;Q15751	.;HERC1_HUMAN	P	1493;477	ENSP00000390158:T1493P	ENSP00000389613:T477P	T	-	1	0	HERC1	61792134	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.377000	0.59562	1.013000	0.39391	0.533000	0.62120	ACT		0.383	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		10	13	0	0	0	0.008291	0	10	13		
HERC1	8925	broad.mit.edu	37	15	64017671	64017671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64017671G>A	ENST00000443617.2	-	18	3475	c.3388C>T	c.(3388-3390)Cag>Tag	p.Q1130*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1130					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAGCTGGCTGAGGTAATGGC	0.448																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(3388-3390)CAG>TAG		hect domain and RCC1-like domain 1							118.0	116.0	117.0					15																	64017671		1970	4145	6115	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64017671G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3388C>T	15.37:g.64017671G>A	ENSP00000390158:p.Gln1130*					HERC1_uc010uil.1_Intron	p.Q1130*	NM_003922	NP_003913	Q15751	HERC1_HUMAN			18	3536	-			1130					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.3388C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	42	9.440565	0.99172	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.44	5.44	0.79542	.	0.261873	0.31772	N	0.007099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.1667	0.72833	0.0:0.1406:0.8594:0.0	.	.	.	.	X	1130	.	ENSP00000390158:Q1130X	Q	-	1	0	HERC1	61804724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.034000	0.64152	2.724000	0.93272	0.650000	0.86243	CAG		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		14	58	0	0	0	0.006122	0	14	58		
DAPK2	23604	broad.mit.edu	37	15	64332447	64332447	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64332447G>C	ENST00000457488.1	-	2	44	c.14C>G	c.(13-15)tCa>tGa	p.S5*	DAPK2_ENST00000261891.3_Nonsense_Mutation_p.S5*|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Nonsense_Mutation_p.S5*	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	5					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		ACTCCTCATTGAGGCCTGGAA	0.488																																						uc002amr.2		NaN																	0				stomach(1)|central_nervous_system(1)	2						c.(13-15)TCA>TGA		death-associated kinase 2							163.0	135.0	145.0					15																	64332447		2203	4300	6503	SO:0001587	stop_gained	23604				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding	g.chr15:64332447G>C	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.14C>G	15.37:g.64332447G>C	ENSP00000408277:p.Ser5*					DAPK2_uc010uim.1_RNA|DAPK2_uc010bgu.1_5'UTR	p.S5*	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN		LUAD - Lung adenocarcinoma(2;0.215)	2	45	-			5					E9JGM7|O75892|Q24JS1	Nonsense_Mutation	SNP	ENST00000457488.1	37	c.14C>G	CCDS10188.1	.	.	.	.	.	.	.	.	.	.	G	40	8.000548	0.98602	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	.	.	.	5.38	5.38	0.77491	.	0.239569	0.27841	N	0.017633	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	14.9767	0.71281	0.0:0.0:1.0:0.0	.	.	.	.	X	5	.	ENSP00000261891:S5X	S	-	2	0	DAPK2	62119500	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	2.805000	0.47939	2.696000	0.92011	0.561000	0.74099	TCA		0.488	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1		NM_014326		20	95	0	0	0	0.007413	0	20	95		
SNX22	79856	broad.mit.edu	37	15	64445458	64445458	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64445458G>A	ENST00000325881.4	+	4	338	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	93	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			large_intestine(3)|lung(1)|urinary_tract(2)	6						TCCTGTACCTGAACCAGGAGG	0.567																																						uc002anc.1		NaN																	0					0						c.(277-279)CTG>CTA		sorting nexin 22							59.0	58.0	58.0					15																	64445458		2203	4300	6503	SO:0001819	synonymous_variant	79856				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr15:64445458G>A	AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"""Sorting nexins"""	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.279G>A	15.37:g.64445458G>A						SNX22_uc002amz.1_Silent_p.L65L|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	p.L93L	NM_024798	NP_079074	Q96L94	SNX22_HUMAN			4	338	+			93			PX.		Q8WUS9|Q9H844	Silent	SNP	ENST00000325881.4	37	c.279G>A	CCDS10190.1																																																																																				0.567	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2		NM_024798		43	29	0	0	0	0.011902	0	43	29		
IGDCC3	9543	broad.mit.edu	37	15	65622908	65622908	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:65622908G>A	ENST00000327987.4	-	10	1984	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	578	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAGGTTGTAGGAGGAGACGGT	0.667																																						uc002aos.2		NaN																	0				ovary(3)	3						c.(1732-1734)TCC>TTC		putative neuronal cell adhesion molecule							92.0	92.0	92.0					15																	65622908		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65622908G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1733C>T	15.37:g.65622908G>A	ENSP00000332773:p.Ser578Phe					IGDCC3_uc002aor.1_5'Flank	p.S578F	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			10	1985	-			578			Extracellular (Potential).|Fibronectin type-III 2.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.1733C>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984595	0.74474	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.60299	0.2	5.26	5.26	0.73747	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.809494	0.11897	N	0.519053	T	0.71719	0.3373	L	0.52573	1.65	0.40845	D	0.983701	D	0.56968	0.978	P	0.60682	0.878	T	0.72626	-0.4236	10	0.87932	D	0	-37.1504	18.893	0.92412	0.0:0.0:1.0:0.0	.	578	Q8IVU1	IGDC3_HUMAN	F	578;441	ENSP00000332773:S578F	ENSP00000332773:S578F	S	-	2	0	IGDCC3	63409961	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	4.742000	0.62103	2.454000	0.82982	0.655000	0.94253	TCC		0.667	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1		NM_004884		25	36	0	0	0	0.003954	0	25	36		
VWA9	81556	broad.mit.edu	37	15	65890802	65890802	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:65890802C>T	ENST00000395644.4	-	6	941		c.e6-1		VWA9_ENST00000567744.1_Splice_Site|VWA9_ENST00000431261.2_Splice_Site|VWA9_ENST00000420799.2_Splice_Site|VWA9_ENST00000442903.3_Splice_Site|VWA9_ENST00000569491.1_Splice_Site|VWA9_ENST00000313182.2_Splice_Site			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9																		TATCAGTTTTCTAGAATATGA	0.378																																						uc002apd.2		NaN																	0				ovary(1)	1						c.e6-1		hypothetical protein LOC81556 isoform 2							57.0	57.0	57.0					15																	65890802		2201	4299	6500	SO:0001630	splice_region_variant	81556							g.chr15:65890802C>T	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.606-1G>A	15.37:g.65890802C>T						C15orf44_uc010uix.1_Splice_Site_p.G238_splice|C15orf44_uc010uiz.1_Splice_Site_p.G166_splice|C15orf44_uc010uja.1_Splice_Site_p.G153_splice|C15orf44_uc010ujb.1_Splice_Site_p.G123_splice|C15orf44_uc002ape.3_Splice_Site_p.G202_splice|C15orf44_uc010uiy.1_Splice_Site_p.G123_splice	p.G202_splice	NM_030800	NP_110427	Q96SY0	CO044_HUMAN			6	942	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Splice_Site	SNP	ENST00000395644.4	37	c.606_splice		.	.	.	.	.	.	.	.	.	.	C	19.60	3.858612	0.71834	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C15orf44	63677855	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.475000	0.81041	2.783000	0.95769	0.655000	0.94253	.		0.378	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3		NM_030800	Intron	10	35	0	0	0	0.006214	0	10	35		
SMAD3	4088	broad.mit.edu	37	15	67473685	67473685	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:67473685G>A	ENST00000327367.4	+	6	1075	c.765G>A	c.(763-765)atG>atA	p.M255I	SMAD3_ENST00000439724.3_Missense_Mutation_p.M211I|SMAD3_ENST00000540846.2_Missense_Mutation_p.M150I|SMAD3_ENST00000537194.2_Missense_Mutation_p.M60I	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	255	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		AGCCATCCATGACTGTGGATG	0.597																																						uc002aqj.2		NaN																	0				large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(763-765)ATG>ATA		mothers against decapentaplegic homolog 3							75.0	66.0	69.0					15																	67473685		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67473685G>A	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.765G>A	15.37:g.67473685G>A	ENSP00000332973:p.Met255Ile					SMAD3_uc010ujr.1_Missense_Mutation_p.M150I|SMAD3_uc010ujs.1_Missense_Mutation_p.M211I|SMAD3_uc010ujt.1_Missense_Mutation_p.M60I	p.M255I	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	6	1063	+			255			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.765G>A	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	9.869	1.198498	0.22037	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83	5.1	5.1	0.69264	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.045390	0.85682	D	0.000000	D	0.82995	0.5158	N	0.00268	-1.735	0.58432	D	0.999994	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.79279	-0.1869	10	0.18276	T	0.48	.	18.8753	0.92332	0.0:0.0:1.0:0.0	.	211;255	B7Z4Z5;P84022	.;SMAD3_HUMAN	I	255;255;150;211;60	ENSP00000332973:M255I;ENSP00000437757:M150I;ENSP00000401133:M211I;ENSP00000445348:M60I	ENSP00000332973:M255I	M	+	3	0	SMAD3	65260739	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.735000	0.47377	2.515000	0.84797	0.555000	0.69702	ATG		0.597	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2		NM_005902		7	22	0	0	0	0.004482	0	7	22		
AAGAB	79719	broad.mit.edu	37	15	67495178	67495178	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:67495178G>A	ENST00000261880.5	-	10	1033	c.929C>T	c.(928-930)tCa>tTa	p.S310L	AAGAB_ENST00000561452.1_Missense_Mutation_p.S201L|AAGAB_ENST00000538028.1_5'UTR|AAGAB_ENST00000542650.1_Missense_Mutation_p.S201L	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	310					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TTCATCAGATGAAAGGCCTTC	0.448																																						uc002aqk.3		NaN																	0					0						c.(928-930)TCA>TTA		alpha- and gamma-adaptin-binding protein p34							128.0	128.0	128.0					15																	67495178		1880	4106	5986	SO:0001583	missense	79719				protein transport	cytoplasm		g.chr15:67495178G>A	AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.929C>T	15.37:g.67495178G>A	ENSP00000261880:p.Ser310Leu					AAGAB_uc002aql.2_Missense_Mutation_p.S201L|AAGAB_uc010uju.1_Missense_Mutation_p.S201L	p.S310L	NM_024666	NP_078942	Q6PD74	AAGAB_HUMAN			10	1034	-			310					B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	c.929C>T	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574238	0.86542	.	.	ENSG00000103591	ENST00000261880;ENST00000538028;ENST00000542650	T;T	0.52526	0.66;0.67	4.9	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.62296	-0.6884	10	0.87932	D	0	-13.0723	11.9771	0.53098	0.0:0.0:0.8262:0.1738	.	310	Q6PD74	AAGAB_HUMAN	L	310;70;201	ENSP00000261880:S310L;ENSP00000440735:S201L	ENSP00000261880:S310L	S	-	2	0	AAGAB	65282232	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	8.290000	0.89925	1.158000	0.42547	0.561000	0.74099	TCA		0.448	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1		NM_024666		13	46	0	0	0	0.004007	0	13	46		
ANP32A	8125	broad.mit.edu	37	15	69080226	69080226	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:69080226C>T	ENST00000465139.2	-	2	230	c.87G>A	c.(85-87)tcG>tcA	p.S29S	ANP32A_ENST00000560303.1_Silent_p.S29S|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	29					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TGCCTTCATTCGACCGACTGT	0.502																																						uc002arl.2		NaN																	0					0						c.(85-87)TCG>TCA		acidic (leucine-rich) nuclear phosphoprotein 32							141.0	144.0	143.0					15																	69080226		2200	4298	6498	SO:0001819	synonymous_variant	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69080226C>T	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.87G>A	15.37:g.69080226C>T							p.S29S	NM_006305	NP_006296	P39687	AN32A_HUMAN			2	258	-			29			LRR 1.		B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Silent	SNP	ENST00000465139.2	37	c.87G>A	CCDS45292.1																																																																																				0.502	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2				37	112	0	0	0	0.007835	0	37	112		
NOX5	79400	broad.mit.edu	37	15	69327705	69327705	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:69327705C>T	ENST00000388866.3	+	6	908	c.867C>T	c.(865-867)ctC>ctT	p.L289L	NOX5_ENST00000455873.3_Silent_p.L254L|NOX5_ENST00000448182.3_Silent_p.L243L|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000260364.5_Silent_p.L271L|NOX5_ENST00000530406.2_Silent_p.L261L	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	289					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCTGATGCTCAGACGCTGCC	0.612																																						uc002ars.1		NaN																	0				breast(1)|pancreas(1)	2						c.(865-867)CTC>CTT		NADPH oxidase, EF-hand calcium binding domain 5							47.0	36.0	40.0					15																	69327705		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69327705C>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.867C>T	15.37:g.69327705C>T						NOX5_uc002arp.1_Silent_p.L271L|NOX5_uc002arq.1_Silent_p.L243L|NOX5_uc010bid.1_Silent_p.L254L|NOX5_uc002arr.1_Silent_p.L261L|NOX5_uc010bie.1_Silent_p.L89L|NOX5_uc010bif.1_RNA	p.L289L	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			6	887	+			289			Helical; (Potential).		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.867C>T	CCDS32276.2																																																																																				0.612	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2		NM_024505		5	16	0	0	0	0.001984	0	5	16		
KIF23	9493	broad.mit.edu	37	15	69721528	69721528	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:69721528G>A	ENST00000260363.4	+	10	1165	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	KIF23_ENST00000352331.4_Missense_Mutation_p.E350K|KIF23_ENST00000559279.1_Missense_Mutation_p.E350K|KIF23_ENST00000558585.1_Missense_Mutation_p.E167K|KIF23_ENST00000537891.1_Missense_Mutation_p.E167K|KIF23_ENST00000395392.2_Missense_Mutation_p.E350K	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	350	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GACCAGAGCAGAAGGGAACAG	0.368																																						uc002asb.2		NaN																	0					0						c.(1048-1050)GAA>AAA		kinesin family member 23 isoform 1							105.0	93.0	97.0					15																	69721528		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69721528G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1048G>A	15.37:g.69721528G>A	ENSP00000260363:p.Glu350Lys					KIF23_uc002asc.2_Missense_Mutation_p.E350K|KIF23_uc010bii.2_Missense_Mutation_p.E240K|KIF23_uc010ukc.1_Missense_Mutation_p.E167K|KIF23_uc010bih.1_RNA	p.E350K	NM_138555	NP_612565	Q02241	KIF23_HUMAN			10	1165	+			350			Kinesin-motor.		Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.1048G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865265	0.71949	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	4.73	4.73	0.59995	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	T	0.78477	0.4289	L	0.31120	0.905	0.58432	D	0.999991	B;D;P	0.71674	0.425;0.998;0.89	B;D;P	0.78314	0.324;0.991;0.625	T	0.75929	-0.3144	10	0.25751	T	0.34	.	16.6739	0.85273	0.0:0.0:1.0:0.0	.	167;350;350	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	K	350;350;350;167	ENSP00000260363:E350K;ENSP00000304978:E350K;ENSP00000378790:E350K;ENSP00000442969:E167K	ENSP00000260363:E350K	E	+	1	0	KIF23	67508582	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	6.960000	0.76036	2.158000	0.67659	0.579000	0.79373	GAA		0.368	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding					11	4	0	0	0	0.008291	0	11	4		
MYO9A	4649	broad.mit.edu	37	15	72338155	72338155	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:72338155G>C	ENST00000356056.5	-	2	1222	c.750C>G	c.(748-750)aaC>aaG	p.N250K	MYO9A_ENST00000564571.1_Missense_Mutation_p.N250K|MYO9A_ENST00000424560.1_Missense_Mutation_p.N250K|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.N250K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	250	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAATAAGAAAGTTTGTGCTTT	0.433																																						uc002atl.3		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(748-750)AAC>AAG		myosin IXA							97.0	93.0	94.0					15																	72338155		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338155G>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.750C>G	15.37:g.72338155G>C	ENSP00000348349:p.Asn250Lys					MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Missense_Mutation_p.N250K|MYO9A_uc002atn.1_Missense_Mutation_p.N250K	p.N250K	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			2	1223	-			250			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.750C>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435430	0.62955	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.82619	-1.63;-1.63;-1.63	5.92	4.05	0.47172	Myosin head, motor domain (3);	.	.	.	.	T	0.73148	0.3550	N	0.01874	-0.695	0.80722	D	1	P;D;P	0.59357	0.911;0.985;0.841	P;D;P	0.63793	0.55;0.918;0.883	T	0.70439	-0.4871	9	0.21540	T	0.41	.	9.4254	0.38576	0.2118:0.0:0.7882:0.0	.	250;250;250	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	K	250	ENSP00000348349:N250K;ENSP00000399162:N250K;ENSP00000398250:N250K	ENSP00000261864:N250K	N	-	3	2	MYO9A	70125209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.902000	0.63266	0.858000	0.35431	0.650000	0.86243	AAC		0.433	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1		NM_006901		21	71	0	0	0	0.012319	0	21	71		
PKM	5315	broad.mit.edu	37	15	72492911	72492911	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:72492911G>T	ENST00000335181.5	-	10	1496	c.1393C>A	c.(1393-1395)Ctg>Atg	p.L465M	GRAMD2_ENST00000309731.7_5'Flank|PKM_ENST00000565154.1_Missense_Mutation_p.L465M|PKM_ENST00000389093.3_Missense_Mutation_p.L465M|PKM_ENST00000449901.2_Missense_Mutation_p.L450M|PKM_ENST00000319622.6_Missense_Mutation_p.L465M|PKM_ENST00000568883.1_Missense_Mutation_p.L300M|PKM_ENST00000568459.1_Missense_Mutation_p.L465M|PKM_ENST00000565184.1_Missense_Mutation_p.L465M	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	465	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CCACGGTACAGGTGGGCCTGA	0.617																																						uc002atx.1		NaN																	0				breast(1)	1						c.(1393-1395)CTG>ATG		pyruvate kinase, muscle isoform M1	Pyruvic acid(DB00119)						71.0	68.0	69.0					15																	72492911		2199	4297	6496	SO:0001583	missense	5315				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity	g.chr15:72492911G>T	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1393C>A	15.37:g.72492911G>T	ENSP00000334983:p.Leu465Met					GRAMD2_uc002atq.2_5'Flank|GRAMD2_uc010bis.2_5'Flank|PKM2_uc002atr.1_Translation_Start_Site|PKM2_uc002ats.1_Missense_Mutation_p.L132M|PKM2_uc002att.1_Missense_Mutation_p.L231M|PKM2_uc002atu.1_Missense_Mutation_p.L231M|PKM2_uc010bit.1_Missense_Mutation_p.L470M|PKM2_uc010uki.1_Missense_Mutation_p.L539M|PKM2_uc002atv.1_Missense_Mutation_p.L500M|PKM2_uc002atw.1_Missense_Mutation_p.L465M|PKM2_uc002aty.1_Missense_Mutation_p.L465M|PKM2_uc010ukj.1_Missense_Mutation_p.L450M|PKM2_uc010ukk.1_Missense_Mutation_p.L391M|PKM2_uc010biu.1_Missense_Mutation_p.L486M	p.L465M	NM_182471	NP_872271	P14618	KPYM_HUMAN			10	1634	-			465			Interaction with POU5F1.		A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.1393C>A	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049954	0.93740	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95	5.03	5.03	0.67393	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.000000	0.64402	D	0.000001	D	0.99557	0.9841	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999;0.999	D	0.98290	1.0513	10	0.87932	D	0	-12.5557	18.7419	0.91777	0.0:0.0:1.0:0.0	.	391;450;445;445;465;465;300;392;300	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2;Q504U3;E9PF79;E7EUJ4	.;.;.;.;KPYM_HUMAN;.;.;.;.	M	465;465;392;300;465;450	ENSP00000320171:L465M;ENSP00000334983:L465M;ENSP00000373745:L465M;ENSP00000403365:L450M	ENSP00000320171:L465M	L	-	1	2	PKM2	70279965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.784000	0.62411	2.483000	0.83821	0.561000	0.74099	CTG		0.617	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1				14	51	1	0	1.5842e-08	0.001855	1.63935e-08	14	51		
PKM	5315	broad.mit.edu	37	15	72499149	72499149	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:72499149C>T	ENST00000335181.5	-	8	1163	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	PKM_ENST00000565154.1_Missense_Mutation_p.D354N|PKM_ENST00000389093.3_Missense_Mutation_p.D354N|PKM_ENST00000449901.2_Missense_Mutation_p.D339N|PKM_ENST00000319622.6_Missense_Mutation_p.D354N|PKM_ENST00000568883.1_Missense_Mutation_p.D189N|PKM_ENST00000568459.1_Missense_Mutation_p.D354N|PKM_ENST00000565184.1_Missense_Mutation_p.D354N	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	354	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	TCGGCTCCATCCAGGACTGCA	0.592																																						uc002atx.1		NaN																	0				breast(1)	1						c.(1060-1062)GAT>AAT		pyruvate kinase, muscle isoform M1	Pyruvic acid(DB00119)						52.0	46.0	48.0					15																	72499149		2199	4297	6496	SO:0001583	missense	5315				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity	g.chr15:72499149C>T	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1060G>A	15.37:g.72499149C>T	ENSP00000334983:p.Asp354Asn					PKM2_uc002ats.1_Missense_Mutation_p.D21N|PKM2_uc002att.1_Missense_Mutation_p.D120N|PKM2_uc002atu.1_Missense_Mutation_p.D120N|PKM2_uc010bit.1_Missense_Mutation_p.D359N|PKM2_uc010uki.1_Missense_Mutation_p.D428N|PKM2_uc002atv.1_Missense_Mutation_p.D389N|PKM2_uc002atw.1_Missense_Mutation_p.D354N|PKM2_uc002aty.1_Missense_Mutation_p.D354N|PKM2_uc010ukj.1_Missense_Mutation_p.D339N|PKM2_uc010ukk.1_Missense_Mutation_p.D280N|PKM2_uc010biu.1_Missense_Mutation_p.D375N|PKM2_uc002atz.1_RNA	p.D354N	NM_182471	NP_872271	P14618	KPYM_HUMAN			8	1301	-			354			Interaction with POU5F1.		A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.1060G>A	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029411	0.93518	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	D;D;D;D	0.99656	-6.31;-6.31;-6.31;-6.31	5.23	5.23	0.72850	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.99638	0.9867	H	0.95294	3.65	0.80722	D	1	P;B;P;D;B;B;P;P;P	0.55605	0.742;0.195;0.473;0.972;0.452;0.418;0.906;0.742;0.696	P;B;P;P;P;B;P;P;P	0.53146	0.618;0.38;0.479;0.719;0.523;0.265;0.682;0.618;0.688	D	0.98188	1.0461	10	0.56958	D	0.05	-18.3806	19.1591	0.93524	0.0:1.0:0.0:0.0	.	280;339;334;334;354;354;189;281;189	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2;Q504U3;E9PF79;E7EUJ4	.;.;.;.;KPYM_HUMAN;.;.;.;.	N	354;354;281;189;354;339	ENSP00000320171:D354N;ENSP00000334983:D354N;ENSP00000373745:D354N;ENSP00000403365:D339N	ENSP00000320171:D354N	D	-	1	0	PKM2	70286203	1.000000	0.71417	0.978000	0.43139	0.874000	0.50279	7.818000	0.86416	2.596000	0.87737	0.561000	0.74099	GAT		0.592	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1				27	21	0	0	0	0.007291	0	27	21		
HEXA	3073	broad.mit.edu	37	15	72668266	72668266	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:72668266G>A	ENST00000268097.5	-	1	551	c.48C>T	c.(46-48)ttC>ttT	p.F16F	HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000457859.2_5'Flank|HEXA-AS1_ENST00000567598.1_RNA|HEXA_ENST00000567159.1_Silent_p.F16F|HEXA_ENST00000566304.1_Silent_p.F16F|HEXA_ENST00000567213.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	16					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCCGTCCTGCGAACGCTGCCG	0.627																																						uc002aun.3		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(46-48)TTC>TTT		hexosaminidase A preproprotein							54.0	62.0	59.0					15																	72668266		2199	4297	6496	SO:0001819	synonymous_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72668266G>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.48C>T	15.37:g.72668266G>A						CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Silent_p.F16F|HEXA_uc002auo.3_5'UTR|HEXA_uc010bix.2_Silent_p.F16F|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|HEXA_uc010biz.1_RNA|C15orf34_uc010ukp.1_5'Flank	p.F16F	NM_000520	NP_000511	P06865	HEXA_HUMAN			1	255	-			16					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Silent	SNP	ENST00000268097.5	37	c.48C>T	CCDS10243.1																																																																																				0.627	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2		NM_000520		28	18	0	0	0	0.009535	0	28	18		
ISLR	3671	broad.mit.edu	37	15	74468086	74468086	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:74468086C>T	ENST00000249842.3	+	2	1244	c.887C>T	c.(886-888)cCt>cTt	p.P296L	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.P296L	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	296	Ig-like.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CCTGGCACCCCTGTGGCCAGC	0.647																																						uc002axg.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(886-888)CCT>CTT		immunoglobulin superfamily containing							64.0	67.0	66.0					15																	74468086		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74468086C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.887C>T	15.37:g.74468086C>T	ENSP00000249842:p.Pro296Leu					ISLR_uc002axh.1_Missense_Mutation_p.P296L	p.P296L	NM_005545	NP_005536	O14498	ISLR_HUMAN			2	1169	+			296			Ig-like.			Missense_Mutation	SNP	ENST00000249842.3	37	c.887C>T	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	2.350	-0.349145	0.05173	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.36340	1.26;1.26	3.96	-6.48	0.01896	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.771446	0.10373	N	0.682590	T	0.27524	0.0676	M	0.74546	2.27	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.24905	-1.0147	10	0.24483	T	0.36	.	2.7815	0.05362	0.1199:0.2543:0.1187:0.5071	.	296	O14498	ISLR_HUMAN	L	296	ENSP00000249842:P296L;ENSP00000378550:P296L	ENSP00000249842:P296L	P	+	2	0	ISLR	72255139	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.737000	0.04877	-2.117000	0.00829	0.313000	0.20887	CCT		0.647	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1		NM_005545		22	74	0	0	0	0.004656	0	22	74		
EDC3	80153	broad.mit.edu	37	15	74927761	74927761	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:74927761G>A	ENST00000315127.4	-	6	1362	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	EDC3_ENST00000568176.1_Missense_Mutation_p.S394F|EDC3_ENST00000426797.3_Missense_Mutation_p.S394F	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	394	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTTGAGGCTAGACACTTGTTG	0.532											OREG0023287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ayn.2		NaN																	0				ovary(1)	1						c.(1180-1182)TCT>TTT		enhancer of mRNA decapping 3							134.0	108.0	116.0					15																	74927761		2197	4296	6493	SO:0001583	missense	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74927761G>A	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.1181C>T	15.37:g.74927761G>A	ENSP00000320503:p.Ser394Phe		OREG0023287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156	EDC3_uc002ayo.2_Missense_Mutation_p.S394F|EDC3_uc002aym.2_Missense_Mutation_p.S394F	p.S394F	NM_001142443	NP_001135915	Q96F86	EDC3_HUMAN			9	1669	-			394			YjeF N-terminal.		B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	ENST00000315127.4	37	c.1181C>T	CCDS10267.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.195804	0.78902	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	T;T	0.46063	0.88;0.88	5.05	5.05	0.67936	YjeF-related protein, N-terminal (4);	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	L	0.31664	0.95	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.51926	-0.8643	10	0.41790	T	0.15	-9.0067	17.4176	0.87505	0.0:0.0:1.0:0.0	.	394	Q96F86	EDC3_HUMAN	F	394	ENSP00000320503:S394F;ENSP00000401343:S394F	ENSP00000320503:S394F	S	-	2	0	EDC3	72714814	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.354000	0.97083	2.370000	0.80446	0.298000	0.19748	TCT		0.532	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1		NM_025083		34	29	0	0	0	0.003755	0	34	29		
FAM219B	57184	broad.mit.edu	37	15	75198699	75198699	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:75198699G>A	ENST00000357635.5	-	2	542	c.222C>T	c.(220-222)caC>caT	p.H74H	FAM219B_ENST00000457294.2_Silent_p.H74H|FAM219B_ENST00000565772.1_5'UTR|FAM219B_ENST00000563119.1_Silent_p.H74H|FAM219B_ENST00000563706.1_5'Flank	NM_020447.3	NP_065180.1	Q5XKK7	F219B_HUMAN	family with sequence similarity 219, member B	74																	CCAGGTCCCGGTGCTTCTCTG	0.642																																						uc002azh.3		NaN																	0					0						c.(220-222)CAC>CAT		hypothetical protein LOC57184							17.0	17.0	17.0					15																	75198699		2196	4295	6491	SO:0001819	synonymous_variant	57184						cytochrome-c oxidase activity	g.chr15:75198699G>A	AK000005	CCDS32295.1	15q23	2012-03-06	2012-03-06	2012-03-06	ENSG00000178761	ENSG00000178761			24695	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 17"""	C15orf17		11214971	Standard	NM_020447		Approved	FLJ00005	uc002azh.4	Q5XKK7	OTTHUMG00000172715	ENST00000357635.5:c.222C>T	15.37:g.75198699G>A						C15orf17_uc010bkh.2_5'UTR|C15orf17_uc002azg.2_Silent_p.H74H|C15orf17_uc002azf.2_Silent_p.H74H	p.H74H	NM_020447	NP_065180	Q5XKK7	CO017_HUMAN			2	543	-			74					A8K4Q5|B4DK57|Q9NXY0	Silent	SNP	ENST00000357635.5	37	c.222C>T	CCDS32295.1																																																																																				0.642	FAM219B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420165.1		NM_020447		4	14	0	0	0	0.009096	0	4	14		
PPCDC	60490	broad.mit.edu	37	15	75335823	75335823	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:75335823C>T	ENST00000342932.3	+	3	321	c.177C>T	c.(175-177)ttC>ttT	p.F59F	PPCDC_ENST00000568649.1_Silent_p.F59F|PPCDC_ENST00000567336.1_Intron|PPCDC_ENST00000564923.1_Intron|PPCDC_ENST00000563393.1_5'UTR	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	59					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	phosphopantothenoylcysteine decarboxylase activity (GO:0004633)			breast(1)|cervix(1)	2						CCAAACATTTCTACAGCCCCC	0.562											OREG0023296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002azo.2		NaN																	0					0						c.(175-177)TTC>TTT		phosphopantothenoylcysteine decarboxylase							114.0	85.0	95.0					15																	75335823		2197	4295	6492	SO:0001819	synonymous_variant	60490				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity	g.chr15:75335823C>T	AK027491	CCDS10275.1, CCDS73761.1, CCDS73759.1, CCDS73760.1	15q24.2	2005-08-16			ENSG00000138621	ENSG00000138621	4.1.1.36		28107	protein-coding gene	gene with protein product		609854				12975309, 11923312	Standard	XM_005254579		Approved	MDS018, FLJ14585	uc002azo.3	Q96CD2	OTTHUMG00000142824	ENST00000342932.3:c.177C>T	15.37:g.75335823C>T			OREG0023296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1159		p.F59F	NM_021823	NP_068595	Q96CD2	COAC_HUMAN			3	290	+			59				FMN.	Q96SX0|Q9HC17	Silent	SNP	ENST00000342932.3	37	c.177C>T	CCDS10275.1																																																																																				0.562	PPCDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286416.1		NM_021823		4	12	0	0	0	0.000602	0	4	12		
C15orf39	56905	broad.mit.edu	37	15	75499996	75499996	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:75499996C>G	ENST00000360639.2	+	2	1927	c.1607C>G	c.(1606-1608)tCa>tGa	p.S536*	C15orf39_ENST00000394987.4_Nonsense_Mutation_p.S536*|C15orf39_ENST00000567617.1_Nonsense_Mutation_p.S536*			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	536			S -> A (in dbSNP:rs28509789). {ECO:0000269|PubMed:15498874}.			cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GAGCCTGACTCAGCCCCAGCC	0.617																																						uc002azp.3		NaN																	0					0						c.(1606-1608)TCA>TGA		hypothetical protein LOC56905							25.0	26.0	26.0					15																	75499996		2196	4292	6488	SO:0001587	stop_gained	56905							g.chr15:75499996C>G	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1607C>G	15.37:g.75499996C>G	ENSP00000353854:p.Ser536*					C15orf39_uc002azq.3_Nonsense_Mutation_p.S536*|C15orf39_uc002azr.3_5'Flank	p.S536*	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			2	1927	+			536					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Nonsense_Mutation	SNP	ENST00000360639.2	37	c.1607C>G	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	37	6.158069	0.97334	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	.	.	.	4.84	-1.82	0.07857	.	1.653880	0.03470	N	0.213444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	3.2791	0.06908	0.2917:0.3778:0.0:0.3305	.	.	.	.	X	536	.	ENSP00000353854:S536X	S	+	2	0	C15orf39	73287049	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.096000	0.15147	-0.645000	0.05458	-0.253000	0.11424	TCA		0.617	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1		NM_015492		6	10	0	0	0	0.004482	0	6	10		
SIN3A	25942	broad.mit.edu	37	15	75668090	75668090	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:75668090G>T	ENST00000394947.3	-	20	3821	c.3507C>A	c.(3505-3507)ttC>ttA	p.F1169L	SIN3A_ENST00000360439.4_Missense_Mutation_p.F1169L|SIN3A_ENST00000394949.4_Missense_Mutation_p.F1169L	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AATTCAGCTTGAATCTACACT	0.483																																						uc002bai.2		NaN																	0				skin(3)|ovary(1)|lung(1)	5						c.(3505-3507)TTC>TTA		transcriptional co-repressor Sin3A							254.0	204.0	221.0					15																	75668090		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75668090G>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3507C>A	15.37:g.75668090G>T	ENSP00000378402:p.Phe1169Leu					SIN3A_uc002baj.2_Missense_Mutation_p.F1169L|SIN3A_uc010uml.1_Missense_Mutation_p.F1169L	p.F1169L	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			20	3766	-			1169						Missense_Mutation	SNP	ENST00000394947.3	37	c.3507C>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132355	0.56828	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47528	0.84;0.84;0.84	5.21	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	L	0.59912	1.85	0.80722	D	1	P	0.41475	0.751	P	0.45639	0.488	T	0.30765	-0.9967	10	0.36615	T	0.2	-14.4766	8.123	0.30982	0.2446:0.0:0.7554:0.0	.	1169	Q96ST3	SIN3A_HUMAN	L	1169	ENSP00000378402:F1169L;ENSP00000378403:F1169L;ENSP00000353622:F1169L	ENSP00000353622:F1169L	F	-	3	2	SIN3A	73455143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.578000	0.53892	0.607000	0.29982	0.655000	0.94253	TTC		0.483	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1		NM_015477		39	102	1	0	2.05212e-20	0.005524	2.17013e-20	39	102		
SH2D7	646892	broad.mit.edu	37	15	78393321	78393321	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:78393321C>T	ENST00000328828.5	+	5	726	c.726C>T	c.(724-726)atC>atT	p.I242I	SH2D7_ENST00000409568.2_Silent_p.I106I	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	242										endometrium(2)|kidney(2)|lung(3)	7						GTGACATCATCTATGCAGACC	0.612																																						uc010blb.1		NaN																	0					0						c.(724-726)ATC>ATT		SH2 domain containing 7							41.0	45.0	44.0					15																	78393321		1960	4148	6108	SO:0001819	synonymous_variant	646892							g.chr15:78393321C>T		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.726C>T	15.37:g.78393321C>T							p.I242I	NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN			5	726	+			242						Silent	SNP	ENST00000328828.5	37	c.726C>T	CCDS45315.1																																																																																				0.612	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2		NM_001101404		18	33	0	0	0	0.007413	0	18	33		
ARNT2	9915	broad.mit.edu	37	15	80883951	80883951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:80883951C>T	ENST00000303329.4	+	18	2126	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	ARNT2_ENST00000533983.1_Missense_Mutation_p.S643L|ARNT2_ENST00000527771.1_Missense_Mutation_p.S643L	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	654					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGGCGGCCCTCGGAAGTCTGG	0.562																																						uc002bfr.2		NaN																	0				central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(1960-1962)TCG>TTG		aryl hydrocarbon receptor nuclear translocator							101.0	102.0	102.0					15																	80883951		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80883951C>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1961C>T	15.37:g.80883951C>T	ENSP00000307479:p.Ser654Leu					ARNT2_uc010unm.1_Missense_Mutation_p.S643L|ARNT2_uc002bfs.2_Missense_Mutation_p.S643L	p.S654L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		18	2127	+			654					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.1961C>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294342	0.60086	.	.	ENSG00000172379	ENST00000360062;ENST00000303329	T	0.57436	0.4	5.2	5.2	0.72013	.	0.135774	0.49305	D	0.000155	T	0.46210	0.1381	L	0.36672	1.1	0.58432	D	0.999999	D	0.57571	0.98	B	0.40329	0.326	T	0.54529	-0.8280	10	0.66056	D	0.02	.	18.7216	0.91697	0.0:1.0:0.0:0.0	.	654	Q9HBZ2	ARNT2_HUMAN	L	643;654	ENSP00000307479:S654L	ENSP00000307479:S654L	S	+	2	0	ARNT2	78671006	1.000000	0.71417	0.997000	0.53966	0.494000	0.33585	5.412000	0.66392	2.414000	0.81942	0.462000	0.41574	TCG		0.562	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2				19	44	0	0	0	0.007413	0	19	44		
MEX3B	84206	broad.mit.edu	37	15	82336488	82336488	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:82336488G>A	ENST00000329713.4	-	2	1158	c.723C>T	c.(721-723)ttC>ttT	p.F241F	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	241					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGTTGGCGTGGAAGTCGTTCT	0.642																																						uc002bgq.1		NaN																	0				breast(1)|kidney(1)	2						c.(721-723)TTC>TTT		mex-3 homolog B							133.0	119.0	124.0					15																	82336488		2203	4300	6503	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336488G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.723C>T	15.37:g.82336488G>A							p.F241F	NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN			2	1038	-			241					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.723C>T	CCDS10319.1																																																																																				0.642	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1		XM_290645		31	83	0	0	0	0.013726	0	31	83		
WDR73	84942	broad.mit.edu	37	15	85186742	85186742	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:85186742G>A	ENST00000434634.2	-	8	1156	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	WDR73_ENST00000398528.3_5'UTR|SCAND2P_ENST00000348993.5_RNA	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	366										cervix(1)|large_intestine(1)|lung(1)	3						CACACATGCAGAGAGGCATCA	0.552																																						uc002bkw.2		NaN																	0					0						c.(1096-1098)CTG>TTG		WD repeat domain 73							89.0	98.0	95.0					15																	85186742		2170	4288	6458	SO:0001819	synonymous_variant	84942							g.chr15:85186742G>A	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.1096C>T	15.37:g.85186742G>A						WDR73_uc002bkv.2_RNA|WDR73_uc002bkx.2_RNA|uc002bky.1_5'Flank	p.L366L	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN			8	1112	-			366			WD 3.		Q96JZ1|Q9P0B7	Silent	SNP	ENST00000434634.2	37	c.1096C>T	CCDS45339.1																																																																																				0.552	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1		NM_032856		9	13	0	0	0	0.004482	0	9	13		
WDR73	84942	broad.mit.edu	37	15	85188819	85188819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:85188819G>A	ENST00000434634.2	-	7	826	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	256										cervix(1)|large_intestine(1)|lung(1)	3						CAGAGATCCCGGGGGTCAAGA	0.617																																						uc002bkw.2		NaN																	0					0						c.(766-768)CGG>TGG		WD repeat domain 73							27.0	31.0	30.0					15																	85188819		1961	4148	6109	SO:0001583	missense	84942							g.chr15:85188819G>A	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.766C>T	15.37:g.85188819G>A	ENSP00000387982:p.Arg256Trp					WDR73_uc002bkv.2_RNA|WDR73_uc002bkx.2_RNA|WDR73_uc010upa.1_3'UTR|uc002bky.1_Missense_Mutation_p.R104Q	p.R256W	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN			7	782	-			256					Q96JZ1|Q9P0B7	Missense_Mutation	SNP	ENST00000434634.2	37	c.766C>T	CCDS45339.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401962	0.62288	.	.	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.36520	1.25	5.79	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048763	0.85682	D	0.000000	T	0.59582	0.2204	M	0.76838	2.35	0.43084	D	0.994745	D	0.89917	1.0	D	0.91635	0.999	T	0.63523	-0.6618	10	0.87932	D	0	-0.891	12.3645	0.55221	0.0:0.0:0.833:0.167	.	256	Q6P4I2	WDR73_HUMAN	W	264;256	ENSP00000387982:R256W	ENSP00000381539:R264W	R	-	1	2	WDR73	82989823	0.919000	0.31177	0.720000	0.30636	0.508000	0.34012	2.363000	0.44178	2.731000	0.93534	0.650000	0.86243	CGG		0.617	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1		NM_032856		7	9	0	0	0	0.001984	0	7	9		
AKAP13	11214	broad.mit.edu	37	15	86076934	86076934	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:86076934C>G	ENST00000394518.2	+	4	396	c.301C>G	c.(301-303)Caa>Gaa	p.Q101E	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q101E|AKAP13_ENST00000560302.1_Missense_Mutation_p.Q101E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	101					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGATGCAGCTCAATTCCTAGC	0.493																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NaN																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(301-303)CAA>GAA		A-kinase anchor protein 13 isoform 2							147.0	136.0	139.0					15																	86076934		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86076934C>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.301C>G	15.37:g.86076934C>G	ENSP00000378026:p.Gln101Glu					AKAP13_uc002bls.2_Missense_Mutation_p.Q101E|AKAP13_uc002blt.1_Missense_Mutation_p.Q101E|AKAP13_uc002blu.1_Missense_Mutation_p.Q101E	p.Q101E	NM_007200	NP_009131	Q12802	AKP13_HUMAN			4	471	+			101					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.301C>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905370	0.72868	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.62498	0.02;0.02	5.67	5.67	0.87782	.	.	.	.	.	T	0.72407	0.3456	L	0.34521	1.04	0.80722	D	1	P;D;D	0.67145	0.952;0.971;0.996	B;P;D	0.77557	0.265;0.453;0.99	T	0.74169	-0.3752	9	0.87932	D	0	.	19.115	0.93334	0.0:1.0:0.0:0.0	.	101;101;101	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	E	101;101;100;100	ENSP00000354718:Q101E;ENSP00000378026:Q101E	ENSP00000354718:Q101E	Q	+	1	0	AKAP13	83877938	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	5.317000	0.65822	2.828000	0.97474	0.655000	0.94253	CAA		0.493	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1		NM_007200		20	57	0	0	0	0.010504	0	20	57		
AKAP13	11214	broad.mit.edu	37	15	86087153	86087153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:86087153G>A	ENST00000394518.2	+	5	724	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	AKAP13_ENST00000361243.2_Missense_Mutation_p.R210Q	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	210					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCCTTGGAGCGAGGCTATCAC	0.582																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NaN																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(628-630)CGA>CAA		A-kinase anchor protein 13 isoform 2							88.0	79.0	82.0					15																	86087153		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86087153G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.629G>A	15.37:g.86087153G>A	ENSP00000378026:p.Arg210Gln					AKAP13_uc002blt.1_Missense_Mutation_p.R210Q|AKAP13_uc002blu.1_Missense_Mutation_p.R210Q	p.R210Q	NM_007200	NP_009131	Q12802	AKP13_HUMAN			5	799	+			210					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.629G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515432	0.96402	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.60548	0.18;0.18	5.62	5.62	0.85841	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.69387	0.3105	L	0.38838	1.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.69785	-0.5051	9	0.54805	T	0.06	.	18.6634	0.91479	0.0:0.0:1.0:0.0	.	210;210	Q12802;Q12802-2	AKP13_HUMAN;.	Q	210;210;209;209	ENSP00000354718:R210Q;ENSP00000378026:R210Q	ENSP00000354718:R210Q	R	+	2	0	AKAP13	83888157	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	8.413000	0.90235	2.648000	0.89879	0.563000	0.77884	CGA		0.582	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1		NM_007200		9	45	0	0	0	0.004482	0	9	45		
ISG20	3669	broad.mit.edu	37	15	89182687	89182687	+	Silent	SNP	C	C	T	rs144037981		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:89182687C>T	ENST00000306072.5	+	2	448	c.90C>T	c.(88-90)ctC>ctT	p.L30L	ISG20_ENST00000379224.5_Silent_p.L30L|ISG20_ENST00000560741.1_Silent_p.L30L	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	30					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511)			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			GTTGCAGCCTCGTGAACGTCC	0.647											OREG0023441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002bmv.1		NaN																	0					0						c.(88-90)CTC>CTT		interferon stimulated exonuclease		C		0,4400		0,0,2200	52.0	51.0	52.0		90	-10.2	0.7	15	dbSNP_134	52	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ISG20	NM_002201.4		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		30/182	89182687	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	3669				cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity	g.chr15:89182687C>T	X89773	CCDS10345.1	15q26	2006-02-22	2002-08-29		ENSG00000172183	ENSG00000172183			6130	protein-coding gene	gene with protein product		604533	"""interferon stimulated gene (20kD)"""			9235947, 9605874	Standard	NM_002201		Approved	HEM45, CD25	uc002bmv.1	Q96AZ6	OTTHUMG00000148679	ENST00000306072.5:c.90C>T	15.37:g.89182687C>T			OREG0023441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1265	ISG20_uc002bmu.1_Intron|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	p.L30L	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.12)		2	383	+	Lung NSC(78;0.0554)|all_lung(78;0.103)		30					O00441|O00586	Silent	SNP	ENST00000306072.5	37	c.90C>T	CCDS10345.1																																																																																				0.647	ISG20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309069.2		NM_002201		12	18	0	0	0	0.010729	0	12	18		
ACAN	176	broad.mit.edu	37	15	89401276	89401276	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:89401276G>A	ENST00000561243.1	+	11	5460	c.5460G>A	c.(5458-5460)acG>acA	p.T1820T	ACAN_ENST00000439576.2_Silent_p.T1820T|ACAN_ENST00000559004.1_Silent_p.T1820T|ACAN_ENST00000352105.7_Silent_p.T1820T			P16112	PGCA_HUMAN	aggrecan	1859	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGTACCACGAGTGGCAGCG	0.522																																						uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(5458-5460)ACG>ACA		aggrecan isoform 2 precursor							45.0	45.0	45.0					15																	89401276		1899	4101	6000	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401276G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5460G>A	15.37:g.89401276G>A						ACAN_uc010upp.1_Silent_p.T1820T|ACAN_uc002bna.2_RNA	p.T1820T	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5834	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1820					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.5460G>A	CCDS53970.1																																																																																				0.522	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		5	26	0	0	0	0.001168	0	5	26		
ACAN	176	broad.mit.edu	37	15	89402471	89402471	+	Missense_Mutation	SNP	G	G	A	rs371239048		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:89402471G>A	ENST00000561243.1	+	11	6655	c.6655G>A	c.(6655-6657)Gag>Aag	p.E2219K	ACAN_ENST00000439576.2_Missense_Mutation_p.E2219K|ACAN_ENST00000559004.1_Missense_Mutation_p.E2219K|ACAN_ENST00000352105.7_Missense_Mutation_p.E2219K			P16112	PGCA_HUMAN	aggrecan	2104	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCATCCCAGAGTCTGAGTG	0.572																																						uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(6655-6657)GAG>AAG		aggrecan isoform 2 precursor							39.0	44.0	43.0					15																	89402471		2116	4240	6356	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402471G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6655G>A	15.37:g.89402471G>A	ENSP00000453342:p.Glu2219Lys					ACAN_uc010upp.1_Missense_Mutation_p.E2219K|ACAN_uc002bna.2_RNA	p.E2219K	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	7029	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2219					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6655G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096381	0.56075	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02345	4.44;4.33	5.12	5.12	0.69794	.	0.317683	0.17981	N	0.155529	T	0.13756	0.0333	M	0.69823	2.125	0.27425	N	0.954175	D;D	0.76494	0.999;0.991	D;P	0.85130	0.997;0.815	T	0.21381	-1.0247	10	0.17369	T	0.5	-9.4604	17.6375	0.88127	0.0:0.0:1.0:0.0	.	2219;2219	E7ENV9;E7EX88	.;.	K	2219;2219;2105	ENSP00000387356:E2219K;ENSP00000341615:E2219K	ENSP00000268134:E2105K	E	+	1	0	ACAN	87203475	1.000000	0.71417	0.093000	0.20910	0.613000	0.37349	4.694000	0.61760	2.399000	0.81585	0.555000	0.69702	GAG		0.572	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		16	27	0	0	0	0.00499	0	16	27		
CRTC3	64784	broad.mit.edu	37	15	91172546	91172546	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:91172546C>T	ENST00000268184.6	+	11	1052	c.1048C>T	c.(1048-1050)Cca>Tca	p.P350S	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Missense_Mutation_p.P350S			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	350					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAATAACCACCCACAGACATC	0.512			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2		NaN		Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				salivary_gland(26)|ovary(1)	27						c.(1048-1050)CCA>TCA		transducer of regulated CREB protein 3 isoform							212.0	206.0	208.0					15																	91172546		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91172546C>T		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1048C>T	15.37:g.91172546C>T	ENSP00000268184:p.Pro350Ser					CRTC3_uc002bpo.2_Missense_Mutation_p.P350S	p.P350S	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		11	1154	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		350					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.1048C>T	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	7.402	0.632922	0.14322	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.13778	2.56;2.6	5.18	3.22	0.36961	.	0.845825	0.10892	N	0.622603	T	0.17619	0.0423	L	0.29908	0.895	0.28932	N	0.891517	D;D	0.57257	0.964;0.979	P;P	0.55455	0.601;0.776	T	0.10989	-1.0606	10	0.35671	T	0.21	-3.2838	7.8145	0.29252	0.3318:0.5073:0.1608:0.0	.	350;350	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	S	314;350;350	ENSP00000268184:P350S;ENSP00000416573:P350S	ENSP00000268184:P350S	P	+	1	0	CRTC3	88973550	0.962000	0.33011	0.919000	0.36401	0.056000	0.15407	0.992000	0.29667	0.697000	0.31718	0.655000	0.94253	CCA		0.512	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2		NM_022769		42	148	0	0	0	0.00874	0	42	148		
UNC45A	55898	broad.mit.edu	37	15	91488214	91488214	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:91488214C>G	ENST00000418476.2	+	9	1160	c.1120C>G	c.(1120-1122)Ctc>Gtc	p.L374V	UNC45A_ENST00000394275.2_Missense_Mutation_p.L359V	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	374					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CGCCTCTATTCTCCTCAGCAA	0.498																																						uc002bqg.2		NaN																	0				ovary(2)	2						c.(1120-1122)CTC>GTC		smooth muscle cell associated protein-1 isoform							77.0	79.0	78.0					15																	91488214		2198	4298	6496	SO:0001583	missense	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91488214C>G		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1120C>G	15.37:g.91488214C>G	ENSP00000407487:p.Leu374Val					UNC45A_uc002bqd.2_Missense_Mutation_p.L359V	p.L374V	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		9	1460	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		374					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.1120C>G	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384487	0.82792	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.46451	0.87;0.87	5.71	5.71	0.89125	.	0.067881	0.64402	D	0.000012	T	0.58004	0.2092	L	0.55834	1.745	0.51767	D	0.999934	D;D	0.76494	0.999;0.997	D;D	0.87578	0.998;0.997	T	0.48151	-0.9060	10	0.06891	T	0.86	-18.7281	19.513	0.95151	0.0:1.0:0.0:0.0	.	374;359	Q9H3U1;A8K6F7	UN45A_HUMAN;.	V	359;374	ENSP00000377816:L359V;ENSP00000407487:L374V	ENSP00000377816:L359V	L	+	1	0	UNC45A	89289218	0.999000	0.42202	0.993000	0.49108	0.974000	0.67602	3.978000	0.56881	2.706000	0.92434	0.650000	0.86243	CTC		0.498	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2		NM_018671		12	66	0	0	0	0.010729	0	12	66		
PRC1	9055	broad.mit.edu	37	15	91517833	91517833	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:91517833C>G	ENST00000361188.5	-	10	2543	c.1332G>C	c.(1330-1332)gaG>gaC	p.E444D	PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.E444D|Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.E444D|PRC1_ENST00000442656.2_Missense_Mutation_p.E403D|PRC1-AS1_ENST00000554388.1_RNA					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCTTGGCTCTCTCTTTCTCCA	0.463																																						uc002bqm.2		NaN																	0				ovary(1)|skin(1)	2						c.(1330-1332)GAG>GAC		protein regulator of cytokinesis 1 isoform 1							356.0	323.0	334.0					15																	91517833		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91517833C>G	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1332G>C	15.37:g.91517833C>G	ENSP00000354679:p.Glu444Asp					PRC1_uc002bqn.2_Missense_Mutation_p.E444D|PRC1_uc002bqo.2_Missense_Mutation_p.E444D|PRC1_uc010uqs.1_Missense_Mutation_p.E403D	p.E444D	NM_003981	NP_003972	O43663	PRC1_HUMAN			10	1489	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		444			Potential.|Spectrin-fold.			Missense_Mutation	SNP	ENST00000361188.5	37	c.1332G>C	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578199	0.65878	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	T;T;T;T;T	0.38240	1.46;1.46;1.46;1.15;1.46	5.64	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	M	0.78456	2.415	0.58432	D	0.999996	P;P;P;P	0.44627	0.699;0.699;0.839;0.744	P;P;P;P	0.54270	0.557;0.557;0.747;0.685	T	0.50717	-0.8795	10	0.33940	T	0.23	.	12.2642	0.54668	0.0:0.8625:0.0:0.1375	.	403;444;414;444	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	D	444;444;444;47;403	ENSP00000377793:E444D;ENSP00000354618:E444D;ENSP00000354679:E444D;ENSP00000451344:E47D;ENSP00000409549:E403D	ENSP00000354679:E444D	E	-	3	2	PRC1	89318837	0.999000	0.42202	0.983000	0.44433	0.988000	0.76386	1.681000	0.37618	0.938000	0.37419	0.650000	0.86243	GAG		0.463	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1		NM_003981		140	127	0	0	0	0.01441	0	140	127		
LINS	55180	broad.mit.edu	37	15	101115276	101115276	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:101115276C>T	ENST00000314742.8	-	4	769	c.547G>A	c.(547-549)Gag>Aag	p.E183K	LINS_ENST00000561308.1_Missense_Mutation_p.E183K|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000560133.1_Missense_Mutation_p.E64K	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	183										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTATTACTCTCAGAGTATTCA	0.313																																						uc002bwe.2		NaN																	0					0						c.(547-549)GAG>AAG		lines homolog 1							59.0	59.0	59.0					15																	101115276		2203	4298	6501	SO:0001583	missense	55180							g.chr15:101115276C>T	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.547G>A	15.37:g.101115276C>T	ENSP00000318423:p.Glu183Lys					LINS1_uc002bwd.2_5'Flank|LINS1_uc002bwf.2_Missense_Mutation_p.E183K|LINS1_uc002bwg.2_Missense_Mutation_p.E183K|LINS1_uc002bwh.2_Missense_Mutation_p.E183K|LINS1_uc010usa.1_Missense_Mutation_p.E64K|LINS1_uc002bwi.2_Missense_Mutation_p.E183K	p.E183K	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		5	838	-	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		183					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.547G>A	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289007	0.40494	.	.	ENSG00000140471	ENST00000314742	T	0.09817	2.94	5.85	3.97	0.46021	.	0.702006	0.14845	N	0.295027	T	0.18964	0.0455	L	0.40543	1.245	0.09310	N	1	P;D;B	0.89917	0.886;1.0;0.424	B;D;B	0.85130	0.417;0.997;0.187	T	0.13202	-1.0518	10	0.21014	T	0.42	-6.5195	6.303	0.21123	0.0:0.7148:0.0:0.2852	.	64;183;183	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	K	183	ENSP00000318423:E183K	ENSP00000318423:E183K	E	-	1	0	LINS	98932799	0.164000	0.22935	0.021000	0.16686	0.876000	0.50452	0.311000	0.19380	1.459000	0.47892	0.655000	0.94253	GAG		0.313	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1		NM_018148		31	88	0	0	0	0.008361	0	31	88		
CHSY1	22856	broad.mit.edu	37	15	101718244	101718244	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:101718244C>T	ENST00000254190.3	-	3	2233	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	586					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATCTCTCATCAGTTCAACTT	0.478																																						uc002bwt.1		NaN																	0					0						c.(1756-1758)CTG>CTA		chondroitin sulfate synthase 1							66.0	60.0	62.0					15																	101718244		2203	4300	6503	SO:0001819	synonymous_variant	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101718244C>T	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1758G>A	15.37:g.101718244C>T						CHSY1_uc010usd.1_Silent_p.L314L	p.L586L	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	2241	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		586			Lumenal (Potential).		Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	ENST00000254190.3	37	c.1758G>A	CCDS10390.1																																																																																				0.478	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1		NM_014918		16	45	0	0	0	0.003163	0	16	45		
PRR25	388199	broad.mit.edu	37	16	863601	863601	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:863601C>G	ENST00000301698.1	+	3	949	c.949C>G	c.(949-951)Ctg>Gtg	p.L317V		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	317										large_intestine(1)|lung(1)|skin(1)	3						TGGCCGGCATCTGGAGACGTC	0.721																																						uc010uut.1		NaN																	0				large_intestine(1)	1						c.(949-951)CTG>GTG		proline rich 25							14.0	16.0	15.0					16																	863601		2052	4191	6243	SO:0001583	missense	388199							g.chr16:863601C>G	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.949C>G	16.37:g.863601C>G	ENSP00000301698:p.Leu317Val						p.L317V	NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN			3	949	+			317						Missense_Mutation	SNP	ENST00000301698.1	37	c.949C>G	CCDS45372.1	.	.	.	.	.	.	.	.	.	.	C	1.358	-0.589555	0.03799	.	.	ENSG00000167945	ENST00000301698	T	0.39406	1.08	0.657	-0.558	0.11796	.	.	.	.	.	T	0.18173	0.0436	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19095	-1.0316	8	0.87932	D	0	.	.	.	.	.	317	Q96S07	PRR25_HUMAN	V	317	ENSP00000301698:L317V	ENSP00000301698:L317V	L	+	1	2	PRR25	803602	0.014000	0.17966	0.001000	0.08648	0.001000	0.01503	-0.306000	0.08178	-1.682000	0.01446	-1.972000	0.00464	CTG		0.721	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1		NM_001013638		3	4	0	0	0	0.004672	0	3	4		
TRAF7	84231	broad.mit.edu	37	16	2215900	2215900	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:2215900C>T	ENST00000326181.6	+	3	234	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	34					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AAACGACCTTCGGACCCGCCT	0.607																																						uc002cow.2		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(100-102)TTC>TTT		TNF receptor-associated factor 7							148.0	112.0	124.0					16																	2215900		2198	4300	6498	SO:0001819	synonymous_variant	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2215900C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.102C>T	16.37:g.2215900C>T							p.F34F	NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN			3	201	+			34					Q9H073	Silent	SNP	ENST00000326181.6	37	c.102C>T	CCDS10461.1																																																																																				0.607	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1		NM_032271		6	21	0	0	0	0.001984	0	6	21		
SRRM2	23524	broad.mit.edu	37	16	2812535	2812535	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:2812535C>T	ENST00000301740.8	+	11	2555	c.2006C>T	c.(2005-2007)tCa>tTa	p.S669L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	669	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGTGGCCGCTCACGCTCTAGA	0.617																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2005-2007)TCA>TTA		splicing coactivator subunit SRm300							96.0	99.0	98.0					16																	2812535		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812535C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2006C>T	16.37:g.2812535C>T	ENSP00000301740:p.Ser669Leu					SRRM2_uc002crj.1_Missense_Mutation_p.S573L|SRRM2_uc002crl.1_Missense_Mutation_p.S669L|SRRM2_uc010bsu.1_Missense_Mutation_p.S573L	p.S669L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	2555	+			669			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2006C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754666	0.31046	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.27256	1.68	5.91	5.91	0.95273	.	0.000000	0.52532	D	0.000077	T	0.40546	0.1121	L	0.27053	0.805	0.48236	D	0.999612	D	0.71674	0.998	D	0.76071	0.987	T	0.19224	-1.0312	10	0.72032	D	0.01	-10.0492	17.7728	0.88497	0.0:1.0:0.0:0.0	.	669	Q9UQ35	SRRM2_HUMAN	L	669;669;634	ENSP00000301740:S669L	ENSP00000301740:S669L	S	+	2	0	SRRM2	2752536	0.908000	0.30866	0.107000	0.21349	0.284000	0.27059	3.638000	0.54332	2.801000	0.96364	0.655000	0.94253	TCA		0.617	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				28	52	0	0	0	0.010818	0	28	52		
SRRM2	23524	broad.mit.edu	37	16	2818133	2818133	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:2818133C>G	ENST00000301740.8	+	11	8153	c.7604C>G	c.(7603-7605)tCg>tGg	p.S2535W	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2535	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTtcctcctcgtcgtcgtcg	0.617																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(7603-7605)TCG>TGG		splicing coactivator subunit SRm300							60.0	53.0	55.0					16																	2818133		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2818133C>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7604C>G	16.37:g.2818133C>G	ENSP00000301740:p.Ser2535Trp					SRRM2_uc002crj.1_Missense_Mutation_p.S2439W|SRRM2_uc002crl.1_Missense_Mutation_p.S2535W|SRRM2_uc010bsu.1_Missense_Mutation_p.S2439W	p.S2535W	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	8153	+			2535			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7604C>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283681	0.40394	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.79033	-1.23	5.91	4.94	0.65067	.	0.127901	0.36628	N	0.002489	T	0.68915	0.3053	L	0.32530	0.975	0.47737	D	0.999503	B	0.15141	0.012	B	0.15052	0.012	T	0.66654	-0.5869	10	0.87932	D	0	-7.8561	12.9093	0.58171	0.0:0.8371:0.1629:0.0	.	2535	Q9UQ35	SRRM2_HUMAN	W	2535;2117;1787	ENSP00000301740:S2535W	ENSP00000301740:S2535W	S	+	2	0	SRRM2	2758134	0.881000	0.30235	0.868000	0.34077	0.476000	0.33039	4.305000	0.59110	1.469000	0.48083	0.655000	0.94253	TCG		0.617	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				6	9	0	0	0	0.006214	0	6	9		
SRRM2	23524	broad.mit.edu	37	16	2819183	2819183	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:2819183C>G	ENST00000301740.8	+	12	8468	c.7919C>G	c.(7918-7920)tCt>tGt	p.S2640C	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2640	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						tcctcctcatcttcctcctcc	0.592																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(7918-7920)TCT>TGT		splicing coactivator subunit SRm300							125.0	118.0	121.0					16																	2819183		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2819183C>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7919C>G	16.37:g.2819183C>G	ENSP00000301740:p.Ser2640Cys						p.S2640C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			12	8468	+			2640			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7919C>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	9.201	1.028459	0.19512	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.35789	1.29	4.94	4.94	0.65067	.	0.332987	0.22586	N	0.058150	T	0.48169	0.1485	L	0.34521	1.04	0.31369	N	0.680394	D	0.76494	0.999	D	0.74674	0.984	T	0.54410	-0.8298	10	0.72032	D	0.01	-1.5524	13.6447	0.62275	0.0:1.0:0.0:0.0	.	2640	Q9UQ35	SRRM2_HUMAN	C	2640;2222;1892	ENSP00000301740:S2640C	ENSP00000301740:S2640C	S	+	2	0	SRRM2	2759184	0.772000	0.28567	0.936000	0.37596	0.396000	0.30629	3.863000	0.56016	2.301000	0.77427	0.561000	0.74099	TCT		0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				41	41	0	0	0	0.00623	0	41	41		
MEFV	4210	broad.mit.edu	37	16	3293307	3293307	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:3293307C>G	ENST00000219596.1	-	10	2219	c.2180G>C	c.(2179-2181)gGa>gCa	p.G727A	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.G516A|MEFV_ENST00000339854.4_Missense_Mutation_p.G547A	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	727	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGAGATGCTTCCAACTCTGTA	0.532																																						uc002cun.1		NaN																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(2179-2181)GGA>GCA		Mediterranean fever protein	Colchicine(DB01394)						117.0	111.0	113.0					16																	3293307		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293307C>G	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2180G>C	16.37:g.3293307C>G	ENSP00000219596:p.Gly727Ala						p.G727A	NM_000243	NP_000234	O15553	MEFV_HUMAN			10	2220	-			727			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.2180G>C	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859633	0.51376	.	.	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.71579	-0.58;-0.58;-0.58	5.3	5.3	0.74995	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.293439	0.24623	N	0.036945	D	0.88032	0.6328	M	0.93375	3.41	0.28232	N	0.926082	D	0.89917	1.0	D	0.72982	0.979	D	0.84381	0.0549	10	0.87932	D	0	-15.6408	16.8111	0.85720	0.0:1.0:0.0:0.0	.	727	O15553	MEFV_HUMAN	A	727;547;516	ENSP00000219596:G727A;ENSP00000339639:G547A;ENSP00000445079:G516A	ENSP00000219596:G727A	G	-	2	0	MEFV	3233308	0.986000	0.35501	0.043000	0.18650	0.030000	0.12068	4.790000	0.62453	2.627000	0.88993	0.650000	0.86243	GGA		0.532	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1		NM_000243		20	55	0	0	0	0.007413	0	20	55		
SLX4	84464	broad.mit.edu	37	16	3640211	3640211	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:3640211G>A	ENST00000294008.3	-	12	4068	c.3428C>T	c.(3427-3429)tCc>tTc	p.S1143F		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1143	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GTTCAGTTTGGATGAAGATTT	0.448								Direct reversal of damage																														uc002cvp.2		NaN																	0					0						c.(3427-3429)TCC>TTC	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							105.0	98.0	101.0					16																	3640211		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640211G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3428C>T	16.37:g.3640211G>A	ENSP00000294008:p.Ser1143Phe						p.S1143F	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			12	4055	-			1143			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.3428C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084923	0.55861	.	.	ENSG00000188827	ENST00000294008	T	0.20598	2.06	5.95	-1.03	0.10102	.	1.423320	0.04121	N	0.316388	T	0.22627	0.0546	L	0.39898	1.24	0.09310	N	1	D	0.56035	0.974	P	0.46479	0.518	T	0.32903	-0.9889	10	0.66056	D	0.02	.	7.5059	0.27545	0.0665:0.469:0.3436:0.1208	.	1143	Q8IY92	SLX4_HUMAN	F	1143	ENSP00000294008:S1143F	ENSP00000294008:S1143F	S	-	2	0	SLX4	3580212	0.001000	0.12720	0.000000	0.03702	0.080000	0.17528	1.054000	0.30455	-0.368000	0.08040	0.655000	0.94253	TCC		0.448	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3		NM_032444		65	24	0	0	0	0.01441	0	65	24		
SLX4	84464	broad.mit.edu	37	16	3641190	3641190	+	Missense_Mutation	SNP	C	C	T	rs143730668		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:3641190C>T	ENST00000294008.3	-	12	3089	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	817	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTCAAGAGTTCCTGGAAATTC	0.498								Direct reversal of damage			OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										uc002cvp.2		NaN																	0					0						c.(2449-2451)GAA>AAA	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							156.0	167.0	164.0					16																	3641190		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3641190C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2449G>A	16.37:g.3641190C>T	ENSP00000294008:p.Glu817Lys		OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	612		p.E817K	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			12	3076	-			817			Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.2449G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485789	0.84854	.	.	ENSG00000188827	ENST00000294008	T	0.01438	4.89	5.57	5.57	0.84162	.	0.230183	0.37393	N	0.002120	T	0.05640	0.0148	L	0.55990	1.75	0.33170	D	0.548102	D	0.71674	0.998	P	0.57425	0.82	T	0.02661	-1.1127	10	0.66056	D	0.02	.	18.5351	0.91008	0.0:1.0:0.0:0.0	.	817	Q8IY92	SLX4_HUMAN	K	817	ENSP00000294008:E817K	ENSP00000294008:E817K	E	-	1	0	SLX4	3581191	1.000000	0.71417	0.898000	0.35279	0.886000	0.51366	4.158000	0.58150	2.619000	0.88677	0.561000	0.74099	GAA		0.498	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3		NM_032444		29	82	0	0	0	0.008361	0	29	82		
PMM2	5373	broad.mit.edu	37	16	8941604	8941604	+	Silent	SNP	C	C	T	rs199927358		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:8941604C>T	ENST00000268261.4	+	8	729	c.663C>T	c.(661-663)ttC>ttT	p.F221F	PMM2_ENST00000537352.1_Silent_p.F96F|PMM2_ENST00000566983.1_Silent_p.F194F|RP11-152P23.2_ENST00000567942.1_RNA|PMM2_ENST00000569958.1_Silent_p.F130F|PMM2_ENST00000539622.1_Silent_p.F138F|RP11-77H9.2_ENST00000565934.1_RNA	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	221					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATGAGATCTTCACAGACCCCA	0.597																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	uc002czf.3		NaN																	0				ovary(1)	1						c.(661-663)TTC>TTT		phosphomannomutase 2							95.0	81.0	85.0					16																	8941604		2197	4300	6497	SO:0001819	synonymous_variant	5373				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	g.chr16:8941604C>T	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"""phosphomannose isomerase 1"""	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.663C>T	16.37:g.8941604C>T						PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_Silent_p.F138F|PMM2_uc010uyh.1_Silent_p.F96F|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_Silent_p.F74F|PMM2_uc002czg.1_5'Flank	p.F221F	NM_000303	NP_000294	O15305	PMM2_HUMAN			8	733	+			221					A8K672|B7Z6R0|D3DUF3	Silent	SNP	ENST00000268261.4	37	c.663C>T	CCDS10536.1																																																																																				0.597	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1		NM_000303		36	17	0	0	0	0.004289	0	36	17		
USP7	7874	broad.mit.edu	37	16	9009183	9009183	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:9009183C>T	ENST00000344836.4	-	10	1204	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	USP7_ENST00000381886.4_Missense_Mutation_p.E320K|USP7_ENST00000535863.1_Missense_Mutation_p.E237K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	336	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TAGTCTACTTCTTTACACTGG	0.299																																						uc002czl.2		NaN																	0				ovary(3)	3						c.(1006-1008)GAA>AAA		ubiquitin specific peptidase 7							131.0	128.0	129.0					16																	9009183		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9009183C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1006G>A	16.37:g.9009183C>T	ENSP00000343535:p.Glu336Lys					USP7_uc010uyk.1_Missense_Mutation_p.E237K|USP7_uc010uyj.1_Missense_Mutation_p.E237K|USP7_uc002czk.2_Missense_Mutation_p.E320K|USP7_uc010uyl.1_RNA	p.E336K	NM_003470	NP_003461	Q93009	UBP7_HUMAN			10	1205	-			336					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1006G>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.742936	0.69418	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.05580	3.42;3.42;3.42	5.49	5.49	0.81192	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.131467	0.64402	D	0.000002	T	0.03959	0.0111	N	0.04132	-0.27	0.45704	D	0.998611	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.49560	-0.8927	10	0.48119	T	0.1	.	14.2763	0.66181	0.0:0.7363:0.2637:0.0	.	336;320	Q93009;B7Z815	UBP7_HUMAN;.	K	336;344;237;237;278	ENSP00000343535:E336K;ENSP00000443646:E237K;ENSP00000439272:E278K	ENSP00000343535:E336K	E	-	1	0	USP7	8916684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.936000	0.75892	2.736000	0.93811	0.655000	0.94253	GAA		0.299	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2				45	32	0	0	0	0.01441	0	45	32		
TXNDC11	51061	broad.mit.edu	37	16	11792135	11792135	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:11792135T>G	ENST00000356957.3	-	8	1141	c.1034A>C	c.(1033-1035)aAg>aCg	p.K345T	TXNDC11_ENST00000283033.5_Missense_Mutation_p.K318T			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	345					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TAAGGCCCACTTACAGATGTT	0.557																																						uc010buu.1		NaN																	0					0						c.(1033-1035)AAG>ACG		thioredoxin domain containing 11							89.0	90.0	90.0					16																	11792135		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11792135T>G	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1034A>C	16.37:g.11792135T>G	ENSP00000349439:p.Lys345Thr					TXNDC11_uc002dbg.1_Missense_Mutation_p.K318T	p.K345T	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN			8	1096	-			345					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.1034A>C		.	.	.	.	.	.	.	.	.	.	T	14.19	2.460484	0.43736	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.28895	1.59;1.59	5.87	3.55	0.40652	.	0.278041	0.42420	N	0.000714	T	0.42245	0.1194	L	0.48362	1.52	0.39403	D	0.966618	P;D	0.61697	0.575;0.99	B;P	0.61003	0.205;0.882	T	0.15492	-1.0435	10	0.36615	T	0.2	-18.1766	12.1846	0.54231	0.0:0.0:0.2705:0.7295	.	345;318	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	T	345;318	ENSP00000349439:K345T;ENSP00000283033:K318T	ENSP00000283033:K318T	K	-	2	0	TXNDC11	11699636	0.998000	0.40836	0.440000	0.26846	0.954000	0.61252	2.200000	0.42724	0.434000	0.26340	-0.313000	0.08912	AAG		0.557	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1		NM_015914		36	16	0	0	0	0.004878	0	36	16		
RSL1D1	26156	broad.mit.edu	37	16	11933795	11933795	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:11933795C>G	ENST00000571133.1	-	8	975	c.903G>C	c.(901-903)gaG>gaC	p.E301D	RSL1D1_ENST00000542106.1_Missense_Mutation_p.E81D	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	301					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						tcttcttcctctccttttgtt	0.398																																						uc002dbp.1		NaN																	0					0						c.(901-903)GAG>GAC		ribosomal L1 domain containing 1							104.0	94.0	97.0					16																	11933795		2197	4300	6497	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11933795C>G	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.903G>C	16.37:g.11933795C>G	ENSP00000460871:p.Glu301Asp					RSL1D1_uc010buv.1_Missense_Mutation_p.E300D|RSL1D1_uc010uyw.1_Missense_Mutation_p.E81D|RSL1D1_uc010buw.2_RNA	p.E301D	NM_015659	NP_056474	O76021	RL1D1_HUMAN			8	976	-			301			Potential.		B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.903G>C	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	C	7.230	0.599215	0.13939	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	T	0.44881	0.91	4.17	-2.04	0.07343	.	1.114660	0.06883	N	0.802800	T	0.26521	0.0648	L	0.38175	1.15	0.09310	N	1	B;B	0.27068	0.167;0.167	B;B	0.20767	0.031;0.031	T	0.20405	-1.0276	10	0.23302	T	0.38	.	4.3298	0.11057	0.0:0.3874:0.317:0.2957	.	301;301	Q32Q62;O76021	.;RL1D1_HUMAN	D	300;301;81	ENSP00000347897:E300D	ENSP00000347897:E300D	E	-	3	2	RSL1D1	11841296	0.013000	0.17824	0.004000	0.12327	0.071000	0.16799	0.223000	0.17719	-0.095000	0.12351	0.462000	0.41574	GAG		0.398	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2		NM_015659		38	65	0	0	0	0.003755	0	38	65		
MYH11	4629	broad.mit.edu	37	16	15841995	15841995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:15841995C>A	ENST00000300036.5	-	17	2198	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	MYH11_ENST00000396324.3_Nonsense_Mutation_p.E704*|MYH11_ENST00000576790.2_Nonsense_Mutation_p.E697*|MYH11_ENST00000452625.2_Nonsense_Mutation_p.E704*	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	697	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCAGCTGCTCCAGCACCAGG	0.622			T	CBFB	AML																																	uc002ddy.2		NaN		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(2089-2091)GAG>TAG		smooth muscle myosin heavy chain 11 isoform							57.0	49.0	52.0					16																	15841995		2197	4300	6497	SO:0001587	stop_gained	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15841995C>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2089G>T	16.37:g.15841995C>A	ENSP00000300036:p.Glu697*					MYH11_uc002ddv.2_Nonsense_Mutation_p.E704*|MYH11_uc002ddw.2_Nonsense_Mutation_p.E697*|MYH11_uc002ddx.2_Nonsense_Mutation_p.E704*|MYH11_uc010bvg.2_Nonsense_Mutation_p.E529*	p.E697*	NM_002474	NP_002465	P35749	MYH11_HUMAN			17	2196	-			697			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Nonsense_Mutation	SNP	ENST00000300036.5	37	c.2089G>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	41	8.677826	0.98912	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.1766	0.86843	0.0:1.0:0.0:0.0	.	.	.	.	X	697;697;704;704;704	.	ENSP00000300036:E697X	E	-	1	0	MYH11	15749496	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.813000	0.86123	2.285000	0.76669	0.561000	0.74099	GAG		0.622	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2		NM_001040113		20	8	1	0	1.22574e-08	0.014323	1.26901e-08	20	8		
ABCC1	4363	broad.mit.edu	37	16	16215927	16215927	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:16215927C>T	ENST00000399410.3	+	24	3661	c.3486C>T	c.(3484-3486)gtC>gtT	p.V1162V	ABCC1_ENST00000399408.2_Silent_p.V1172V|ABCC1_ENST00000349029.5_Silent_p.V1047V|ABCC1_ENST00000346370.5_Silent_p.V1106V|ABCC1_ENST00000345148.5_Silent_p.V1162V|ABCC1_ENST00000351154.5_Silent_p.V1103V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1162	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TGCTGGGGGTCAGCGTCATTC	0.607																																						uc010bvi.2		NaN																	0				ovary(4)	4						c.(3484-3486)GTC>GTT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						50.0	55.0	54.0					16																	16215927		2181	4293	6474	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16215927C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3486C>T	16.37:g.16215927C>T						ABCC1_uc010bvj.2_Silent_p.V1103V|ABCC1_uc010bvk.2_Silent_p.V1106V|ABCC1_uc010bvl.2_Silent_p.V1162V|ABCC1_uc010bvm.2_Silent_p.V1047V|ABCC1_uc002del.3_Silent_p.V1056V	p.V1162V	NM_004996	NP_004987	P33527	MRP1_HUMAN			24	3661	+			1162			Cytoplasmic.|ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.3486C>T	CCDS42122.1																																																																																				0.607	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996		13	50	0	0	0	0.013537	0	13	50		
TMC7	79905	broad.mit.edu	37	16	19041668	19041668	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:19041668G>A	ENST00000304381.5	+	6	964	c.834G>A	c.(832-834)ctG>ctA	p.L278L	TMC7_ENST00000569532.1_Silent_p.L278L|TMC7_ENST00000421369.3_Silent_p.L168L	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	278					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCCTGGCCCTGAGCCTTCTTT	0.473																																						uc002dfq.2		NaN																	0				skin(2)|ovary(1)	3						c.(832-834)CTG>CTA		transmembrane channel-like 7 isoform a							92.0	82.0	85.0					16																	19041668		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19041668G>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.834G>A	16.37:g.19041668G>A						TMC7_uc010vao.1_Silent_p.L278L|TMC7_uc002dfp.2_Silent_p.L278L|TMC7_uc010vap.1_Silent_p.L168L	p.L278L	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			6	964	+			278			Helical; (Potential).		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.834G>A	CCDS10573.1																																																																																				0.473	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3		NM_024847		53	56	0	0	0	0.01441	0	53	56		
LOC81691	81691	broad.mit.edu	37	16	20835811	20835811	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:20835811G>A	ENST00000261377.6	+	7	876	c.667G>A	c.(667-669)Gca>Aca	p.A223T	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.A223T|AC004381.6_ENST00000567297.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.A223T	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TGGTTCTATAGCAGACAATAG	0.348																																						uc002dhv.2		NaN																	0				ovary(1)|kidney(1)	2						c.(667-669)GCA>ACA		exonuclease NEF-sp isoform 1							111.0	102.0	105.0					16																	20835811		2201	4298	6499	SO:0001583	missense	81691					nucleolus	exonuclease activity|nucleotide binding|RNA binding	g.chr16:20835811G>A																												ENST00000261377.6:c.667G>A	16.37:g.20835811G>A	ENSP00000261377:p.Ala223Thr					ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.A223T|LOC81691_uc002dhw.2_Intron|LOC81691_uc002dhy.3_Missense_Mutation_p.A223T	p.A223T	NM_030941	NP_112203	Q96IC2	REXON_HUMAN			7	930	+			223						Missense_Mutation	SNP	ENST00000261377.6	37	c.667G>A	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	1.809	-0.475071	0.04414	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.26957	1.7;2.14	4.92	2.49	0.30216	.	0.205884	0.49916	N	0.000121	T	0.04272	0.0118	N	0.00175	-1.925	0.24385	N	0.994773	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42515	-0.9447	10	0.02654	T	1	-1.1313	8.7193	0.34430	0.8358:0.0:0.1642:0.0	.	223;223	Q96IC2-2;Q96IC2	.;REXON_HUMAN	T	223	ENSP00000261378:A223T;ENSP00000261377:A223T	ENSP00000261377:A223T	A	+	1	0	AC004381.6	20743312	1.000000	0.71417	0.310000	0.25168	0.655000	0.38815	5.210000	0.65214	0.292000	0.22492	-0.459000	0.05422	GCA		0.348	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2				10	68	0	0	0	0.008291	0	10	68		
DNAH3	55567	broad.mit.edu	37	16	21170741	21170741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:21170741C>T	ENST00000261383.3	-	1	21	c.22G>A	c.(22-24)Gag>Aag	p.E8K	TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000572258.1_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.E8K|TMEM159_ENST00000233047.4_Intron|TMEM159_ENST00000574092.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	8	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTGTGAGCTCGAGGCGCCCT	0.627																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(22-24)GAG>AAG		dynein, axonemal, heavy chain 3							74.0	83.0	80.0					16																	21170741		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21170741C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.22G>A	16.37:g.21170741C>T	ENSP00000261383:p.Glu8Lys					TMEM159_uc002dif.3_Intron|TMEM159_uc002dig.3_Intron|TMEM159_uc010vbf.1_Intron|TMEM159_uc002dih.3_Intron	p.E8K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	1	22	-			8			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.22G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085665	0.36758	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.22134	1.97;2.1	2.68	-0.629	0.11533	.	.	.	.	.	T	0.11281	0.0275	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34576	-0.9823	9	0.24483	T	0.36	.	5.2471	0.15502	0.0:0.5061:0.0:0.4939	.	8	Q8TD57	DYH3_HUMAN	K	8	ENSP00000261383:E8K;ENSP00000394245:E8K	ENSP00000261383:E8K	E	-	1	0	DNAH3	21078242	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.180000	0.09754	-0.112000	0.11979	-0.424000	0.05967	GAG		0.627	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		44	38	0	0	0	0.01441	0	44	38		
ZP2	7783	broad.mit.edu	37	16	21214522	21214522	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:21214522C>T	ENST00000574002.1	-	11	1505	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	ZP2_ENST00000574091.1_Silent_p.L341L|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.L341L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	341					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GGAGAAAGGTCAGCTTGAGTG	0.433																																						uc002dii.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1021-1023)CTG>CTA		zona pellucida glycoprotein 2 preproprotein							112.0	106.0	108.0					16																	21214522		2200	4300	6500	SO:0001819	synonymous_variant	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21214522C>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1023G>A	16.37:g.21214522C>T						ZP2_uc010bwn.1_Silent_p.L380L	p.L341L	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	10	1023	-			341			Extracellular (Potential).		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	c.1023G>A	CCDS10596.1																																																																																				0.433	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2				11	53	0	0	0	0.010729	0	11	53		
COG7	91949	broad.mit.edu	37	16	23436192	23436192	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:23436192G>A	ENST00000307149.5	-	7	1072	c.887C>T	c.(886-888)tCc>tTc	p.S296F		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	296					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GCTGAGGCAGGAGGGCAGCGA	0.642																																						uc002dlo.2		NaN																	0					0						c.(886-888)TCC>TTC		component of oligomeric golgi complex 7							53.0	51.0	52.0					16																	23436192		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23436192G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.887C>T	16.37:g.23436192G>A	ENSP00000305442:p.Ser296Phe						p.S296F	NM_153603	NP_705831	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	7	1075	-			296					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.887C>T	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	6.301	0.423718	0.11928	.	.	ENSG00000168434	ENST00000307149	T	0.49432	0.78	5.31	0.308	0.15815	.	0.894089	0.09861	N	0.746175	T	0.24851	0.0603	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.20405	-1.0276	10	0.52906	T	0.07	2.2951	1.8031	0.03075	0.5763:0.1324:0.1524:0.1388	.	296	P83436	COG7_HUMAN	F	296	ENSP00000305442:S296F	ENSP00000305442:S296F	S	-	2	0	COG7	23343693	0.150000	0.22732	0.012000	0.15200	0.274000	0.26718	1.693000	0.37742	-0.242000	0.09667	-0.469000	0.05056	TCC		0.642	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1				19	47	0	0	0	0.008871	0	19	47		
GGA2	23062	broad.mit.edu	37	16	23492071	23492071	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:23492071C>T	ENST00000309859.4	-	10	983	c.901G>A	c.(901-903)Gac>Aac	p.D301N	GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'Flank	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	301	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GTGAGGAGGTCATTTGCCTGG	0.493																																						uc002dlq.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(901-903)GAC>AAC		ADP-ribosylation factor binding protein 2							100.0	94.0	96.0					16																	23492071		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23492071C>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.901G>A	16.37:g.23492071C>T	ENSP00000311962:p.Asp301Asn					GGA2_uc010bxo.1_RNA	p.D301N	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	10	977	-			301			GAT.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.901G>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752628	0.89753	.	.	ENSG00000103365	ENST00000309859	T	0.65916	-0.18	4.69	4.69	0.59074	GAT (2);	0.000000	0.85682	D	0.000000	T	0.78259	0.4255	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80830	-0.1207	10	0.87932	D	0	-26.8947	13.299	0.60313	0.0:1.0:0.0:0.0	.	301	Q9UJY4	GGA2_HUMAN	N	301	ENSP00000311962:D301N	ENSP00000311962:D301N	D	-	1	0	GGA2	23399572	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.826000	0.62715	2.568000	0.86640	0.655000	0.94253	GAC		0.493	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1				265	46	0	0	0	0.01441	0	265	46		
TNRC6A	27327	broad.mit.edu	37	16	24802299	24802299	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:24802299C>T	ENST00000395799.3	+	6	2465	c.2336C>T	c.(2335-2337)tCt>tTt	p.S779F	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S779F	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	779	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GATACCTCATCTGTATCAGGG	0.517																																						uc002dmm.2		NaN																	0				ovary(2)	2						c.(2335-2337)TCT>TTT		trinucleotide repeat containing 6A							42.0	45.0	44.0					16																	24802299		2194	4299	6493	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802299C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2336C>T	16.37:g.24802299C>T	ENSP00000379144:p.Ser779Phe					TNRC6A_uc010bxs.2_Missense_Mutation_p.S526F|TNRC6A_uc010vcc.1_Missense_Mutation_p.S526F|TNRC6A_uc002dmn.2_Missense_Mutation_p.S526F|TNRC6A_uc002dmo.2_Missense_Mutation_p.S526F	p.S779F	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2450	+			779			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.2336C>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465165	0.26335	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.14022	2.54;2.55	5.85	5.85	0.93711	.	0.219881	0.39407	N	0.001377	T	0.22820	0.0551	L	0.59436	1.845	0.80722	D	1	P;B;P	0.50710	0.725;0.005;0.938	P;B;P	0.49799	0.622;0.008;0.548	T	0.02444	-1.1158	10	0.09843	T	0.71	-4.2219	19.1535	0.93499	0.0:1.0:0.0:0.0	.	526;779;779	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	F	779	ENSP00000326900:S779F;ENSP00000379144:S779F	ENSP00000326900:S779F	S	+	2	0	TNRC6A	24709800	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	5.119000	0.64679	2.768000	0.95171	0.655000	0.94253	TCT		0.517	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		9	121	0	0	0	0.004482	0	9	121		
TNRC6A	27327	broad.mit.edu	37	16	24817006	24817006	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:24817006G>A	ENST00000395799.3	+	15	4332	c.4203G>A	c.(4201-4203)ctG>ctA	p.L1401L	TNRC6A_ENST00000315183.7_Silent_p.L1352L|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1401					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TAGCCATGCTGAACCAGCTAT	0.453																																						uc002dmm.2		NaN																	0				ovary(2)	2						c.(4201-4203)CTG>CTA		trinucleotide repeat containing 6A							204.0	187.0	193.0					16																	24817006		2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24817006G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4203G>A	16.37:g.24817006G>A						TNRC6A_uc010bxs.2_Silent_p.L1148L|TNRC6A_uc002dmn.2_Silent_p.L1099L|TNRC6A_uc002dmo.2_Silent_p.L1040L|TNRC6A_uc002dmp.2_Silent_p.L2L|TNRC6A_uc002dmq.2_Silent_p.L68L	p.L1401L	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	15	4317	+			1401					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.4203G>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	7.703	0.693542	0.15039	.	.	ENSG00000090905	ENST00000450465	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	T	0.77418	0.4127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73503	-0.3962	4	.	.	.	-1.784	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	K	292	.	.	E	+	1	0	TNRC6A	24724507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.743000	0.62110	2.937000	0.99478	0.650000	0.86243	GAA		0.453	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		45	421	0	0	0	0.010771	0	45	421		
XPO6	23214	broad.mit.edu	37	16	28128716	28128716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:28128716G>A	ENST00000304658.5	-	15	2427	c.1927C>T	c.(1927-1929)Cac>Tac	p.H643Y	XPO6_ENST00000565698.1_Missense_Mutation_p.H629Y	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	643					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTCTGCCGGTGAACTTCACTG	0.488																																						uc002dpa.1		NaN																	0				ovary(1)|skin(1)	2						c.(1927-1929)CAC>TAC		exportin 6							192.0	184.0	187.0					16																	28128716		2028	4176	6204	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28128716G>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1927C>T	16.37:g.28128716G>A	ENSP00000302790:p.His643Tyr					XPO6_uc002dpb.1_Missense_Mutation_p.H629Y|XPO6_uc010vcp.1_Missense_Mutation_p.H643Y	p.H643Y	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN			15	2428	-			643					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.1927C>T	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987589	0.74589	.	.	ENSG00000169180	ENST00000304658	T	0.68479	-0.33	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.096709	0.64402	D	0.000001	T	0.52677	0.1749	N	0.22421	0.69	0.80722	D	1	B;B	0.32829	0.238;0.386	B;B	0.23018	0.043;0.029	T	0.55398	-0.8147	10	0.52906	T	0.07	-15.985	17.4695	0.87642	0.0:0.0:1.0:0.0	.	643;643	B7ZM10;Q96QU8	.;XPO6_HUMAN	Y	643	ENSP00000302790:H643Y	ENSP00000302790:H643Y	H	-	1	0	XPO6	28036217	1.000000	0.71417	0.876000	0.34364	0.951000	0.60555	9.571000	0.98176	2.727000	0.93392	0.655000	0.94253	CAC		0.488	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1		XM_055195		28	147	0	0	0	0.00632	0	28	147		
NFATC2IP	84901	broad.mit.edu	37	16	28975091	28975091	+	Silent	SNP	C	C	G	rs374516541		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:28975091C>G	ENST00000320805.4	+	8	1242	c.1167C>G	c.(1165-1167)ctC>ctG	p.L389L	RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000568148.1_Silent_p.L97L|NFATC2IP_ENST00000564978.1_Silent_p.L110L	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	389	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GACGGAAGCTCTCCTTCTTCT	0.547																																						uc002dru.2		NaN																	0				ovary(1)	1						c.(1165-1167)CTC>CTG		nuclear factor of activated T-cells,		C		1,4393	2.1+/-5.4	0,1,2196	86.0	80.0	82.0		1167	0.5	1.0	16		82	0,8600		0,0,4300	no	coding-synonymous	NFATC2IP	NM_032815.3		0,1,6496	GG,GC,CC		0.0,0.0228,0.0077		389/420	28975091	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	84901					cytoplasm|nucleus		g.chr16:28975091C>G	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.1167C>G	16.37:g.28975091C>G						uc010vct.1_Intron|NFATC2IP_uc002drt.2_Silent_p.L110L|NFATC2IP_uc002drv.2_Silent_p.L108L|NFATC2IP_uc010vdh.1_Silent_p.L97L	p.L389L	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN			8	1182	+			389			Ubiquitin-like.		B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Silent	SNP	ENST00000320805.4	37	c.1167C>G	CCDS10645.1																																																																																				0.547	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2		NM_032815		17	59	0	0	0	0.004007	0	17	59		
KIF22	3835	broad.mit.edu	37	16	29814250	29814250	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:29814250G>A	ENST00000160827.4	+	9	1481	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	KIF22_ENST00000400751.5_Missense_Mutation_p.E413K|KIF22_ENST00000561482.1_Missense_Mutation_p.E413K|KIF22_ENST00000569382.2_Missense_Mutation_p.E413K|KIF22_ENST00000400750.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	481					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GAAGGACCTAGAGATTGAGGT	0.552																																						uc002dts.3		NaN																	0					0						c.(1441-1443)GAG>AAG		kinesin family member 22							194.0	186.0	189.0					16																	29814250		2197	4300	6497	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29814250G>A	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1441G>A	16.37:g.29814250G>A	ENSP00000160827:p.Glu481Lys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.E413K|KIF22_uc010vdw.1_Missense_Mutation_p.E413K|KIF22_uc010bzf.2_Missense_Mutation_p.E413K|KIF22_uc002dtt.1_5'Flank|KIF22_uc002frc.1_5'Flank	p.E481K	NM_007317	NP_015556	Q14807	KIF22_HUMAN			9	1465	+			481			Potential.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.1441G>A	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267998	0.59540	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.75367	-0.93;-0.93	5.57	5.57	0.84162	.	.	.	.	.	T	0.79930	0.4531	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.80764	0.994;0.842	T	0.80708	-0.1262	9	0.52906	T	0.07	.	17.0326	0.86465	0.0:0.0:1.0:0.0	.	413;481	B7Z265;Q14807	.;KIF22_HUMAN	K	481;413	ENSP00000160827:E481K;ENSP00000383562:E413K	ENSP00000160827:E481K	E	+	1	0	KIF22	29721751	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	5.196000	0.65136	2.623000	0.88846	0.561000	0.74099	GAG		0.552	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2				24	28	0	0	0	0.004656	0	24	28		
SEPT1	1731	broad.mit.edu	37	16	30390351	30390351	+	Missense_Mutation	SNP	C	C	T	rs532465703		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:30390351C>T	ENST00000571393.1	-	10	1100	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	SEPT1_ENST00000321367.3_Missense_Mutation_p.R352Q|SEPT1_ENST00000605106.1_Missense_Mutation_p.R310Q			Q8WYJ6	SEPT1_HUMAN	septin 1	305					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GCGGCTGGCTCGATCGCGAGC	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		8409	0.0		0.0	False		,,,				2504	0.0					uc002dxy.2		NaN																	0				ovary(1)	1						c.(913-915)CGA>CAA		septin 1							17.0	22.0	20.0					16																	30390351		2140	4217	6357	SO:0001583	missense	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30390351C>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.914G>A	16.37:g.30390351C>T	ENSP00000460441:p.Arg305Gln					SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Missense_Mutation_p.R130Q	p.R305Q	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		10	1101	-			305					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.914G>A		.	.	.	.	.	.	.	.	.	.	C	37	6.039401	0.97226	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.06	5.06	0.68205	.	0.283969	0.25869	N	0.027777	T	0.60011	0.2236	N	0.24115	0.695	0.54753	D	0.999986	D	0.69078	0.997	P	0.57425	0.82	T	0.64045	-0.6499	9	0.54805	T	0.06	.	17.2098	0.86928	0.0:1.0:0.0:0.0	.	305	Q8WYJ6	SEPT1_HUMAN	Q	305	.	ENSP00000324511:R305Q	R	-	2	0	SEPT1	30297852	0.268000	0.24133	0.995000	0.50966	0.993000	0.82548	3.512000	0.53407	2.382000	0.81193	0.555000	0.69702	CGA		0.682	SEPT1-201	KNOWN	basic	protein_coding	protein_coding			NM_052838		8	4	0	0	0	0.00245	0	8	4		
SEPT1	1731	broad.mit.edu	37	16	30390418	30390418	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:30390418C>T	ENST00000571393.1	-	10	1033	c.847G>A	c.(847-849)Gat>Aat	p.D283N	SEPT1_ENST00000321367.3_Missense_Mutation_p.D330N|SEPT1_ENST00000605106.1_Missense_Mutation_p.D288N			Q8WYJ6	SEPT1_HUMAN	septin 1	283	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TAGAGCAGATCGTGCGTCACC	0.667																																						uc002dxy.2		NaN																	0				ovary(1)	1						c.(847-849)GAT>AAT		septin 1							42.0	44.0	44.0					16																	30390418		2197	4300	6497	SO:0001583	missense	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30390418C>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.847G>A	16.37:g.30390418C>T	ENSP00000460441:p.Asp283Asn					SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Missense_Mutation_p.D108N	p.D283N	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		10	1034	-			283					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.847G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.396820	0.96009	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.38	5.38	0.77491	.	0.090925	0.47852	D	0.000214	T	0.63850	0.2546	L	0.28458	0.855	0.80722	D	1	D	0.59357	0.985	D	0.63033	0.91	T	0.59621	-0.7420	9	0.28530	T	0.3	.	17.8967	0.88891	0.0:1.0:0.0:0.0	.	283	Q8WYJ6	SEPT1_HUMAN	N	283	.	ENSP00000324511:D283N	D	-	1	0	SEPT1	30297919	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.806000	0.86020	2.538000	0.85594	0.555000	0.69702	GAT		0.667	SEPT1-201	KNOWN	basic	protein_coding	protein_coding			NM_052838		11	45	0	0	0	0.013537	0	11	45		
SRCAP	10847	broad.mit.edu	37	16	30740403	30740403	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:30740403C>T	ENST00000262518.4	+	26	6160	c.5775C>T	c.(5773-5775)ttC>ttT	p.F1925F	SRCAP_ENST00000395059.2_Silent_p.F1863F|SRCAP_ENST00000344771.4_Silent_p.F1767F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1925					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCTGGATTTCTGTACCCTGC	0.617																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(5773-5775)TTC>TTT		Snf2-related CBP activator protein							62.0	62.0	62.0					16																	30740403		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30740403C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5775C>T	16.37:g.30740403C>T						SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.F1720F	p.F1925F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		26	6160	+			1925					B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.5775C>T	CCDS10689.2																																																																																				0.617	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		12	54	0	0	0	0.001855	0	12	54		
ZNF646	9726	broad.mit.edu	37	16	31088003	31088003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:31088003G>T	ENST00000394979.2	+	1	781	c.358G>T	c.(358-360)Gag>Tag	p.E120*	ZNF646_ENST00000300850.5_Nonsense_Mutation_p.E120*|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCTCCAGGGTGAGACGGTGTC	0.582																																						uc002eap.2		NaN																	0				breast(2)	2						c.(358-360)GAG>TAG		zinc finger protein 646							40.0	45.0	43.0					16																	31088003		2197	4300	6497	SO:0001587	stop_gained	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31088003G>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.358G>T	16.37:g.31088003G>T	ENSP00000378429:p.Glu120*					ZNF668_uc002eao.2_5'Flank	p.E120*	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	647	+			120					Q8IVD8	Nonsense_Mutation	SNP	ENST00000394979.2	37	c.358G>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.961354	0.74016	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	.	.	.	5.79	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-13.0679	10.5429	0.45043	0.0:0.1732:0.7009:0.1258	.	.	.	.	X	120	.	ENSP00000300850:E120X	E	+	1	0	ZNF646	30995504	.	.	0.107000	0.21349	0.351000	0.29236	.	.	2.735000	0.93741	0.563000	0.77884	GAG		0.582	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2		NM_014699		20	17	1	0	1.33834e-09	0.007413	1.38957e-09	20	17		
ZNF646	9726	broad.mit.edu	37	16	31090756	31090756	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:31090756C>T	ENST00000394979.2	+	1	3534	c.3111C>T	c.(3109-3111)tgC>tgT	p.C1037C	ZNF646_ENST00000300850.5_Silent_p.C1037C			O15015	ZN646_HUMAN	zinc finger protein 646	1037					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACAGCCTCTGCATCCAGGGTG	0.597																																						uc002eap.2		NaN																	0				breast(2)	2						c.(3109-3111)TGC>TGT		zinc finger protein 646							103.0	105.0	104.0					16																	31090756		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090756C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3111C>T	16.37:g.31090756C>T							p.C1037C	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	3400	+			1037					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.3111C>T																																																																																					0.597	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2		NM_014699		37	104	0	0	0	0.006999	0	37	104		
SHCBP1	79801	broad.mit.edu	37	16	46649952	46649952	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:46649952G>A	ENST00000303383.3	-	4	768	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	168					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TGCTCCTTCAGATCAAGGAGC	0.517																																						uc002eec.3		NaN																	0				ovary(1)|breast(1)	2						c.(502-504)CTG>TTG		SHC SH2-domain binding protein 1							113.0	108.0	110.0					16																	46649952		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46649952G>A	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.502C>T	16.37:g.46649952G>A							p.L168L	NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN			4	542	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	168					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.502C>T	CCDS10720.1																																																																																				0.517	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1		NM_024745		19	50	0	0	0	0.014323	0	19	50		
NOD2	64127	broad.mit.edu	37	16	50745896	50745896	+	Missense_Mutation	SNP	G	G	A	rs143782684		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:50745896G>A	ENST00000300589.2	+	4	2179	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	692					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCTGCTGGCTGAGTGCCAGAC	0.672																																						uc002egm.1		NaN																	0				ovary(3)|skin(1)	4						c.(2074-2076)GAG>AAG		nucleotide-binding oligomerization domain		G	LYS/GLU	1,4395	2.1+/-5.4	0,1,2197	29.0	32.0	31.0		2074	2.6	0.0	16	dbSNP_134	31	0,8600		0,0,4300	no	missense	NOD2	NM_022162.1	56	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign	692/1041	50745896	1,12995	2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745896G>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2074G>A	16.37:g.50745896G>A	ENSP00000300589:p.Glu692Lys					NOD2_uc010cbk.1_Missense_Mutation_p.E665K|NOD2_uc002egl.1_Missense_Mutation_p.E470K|NOD2_uc010cbl.1_Missense_Mutation_p.E470K|NOD2_uc010cbm.1_Missense_Mutation_p.E470K|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.E692K	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	2179	+		all_cancers(37;0.0156)	692					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2074G>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	8.981	0.975229	0.18736	2.27E-4	0.0	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.70045	-0.45	5.74	2.64	0.31445	.	0.752143	0.12477	N	0.465469	T	0.47619	0.1455	N	0.26130	0.795	0.23210	N	0.998117	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.13407	0.002;0.009;0.004	T	0.27297	-1.0078	10	0.06365	T	0.9	.	9.4507	0.38725	0.0755:0.264:0.6606:0.0	.	476;665;692	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	K	665;692	ENSP00000300589:E692K	ENSP00000300589:E692K	E	+	1	0	NOD2	49303397	0.266000	0.24112	0.033000	0.17914	0.183000	0.23260	0.460000	0.21924	0.326000	0.23384	0.561000	0.74099	GAG		0.672	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2		NM_022162		15	34	0	0	0	0.004007	0	15	34		
RBL2	5934	broad.mit.edu	37	16	53514621	53514621	+	Missense_Mutation	SNP	C	C	G	rs376099593		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:53514621C>G	ENST00000262133.6	+	20	3161	c.3024C>G	c.(3022-3024)ttC>ttG	p.F1008L	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1008	Domain B.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATTCAGTTCTACAACAACA	0.453																																						uc002ehi.3		NaN																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(3022-3024)TTC>TTG		retinoblastoma-like 2 (p130)							143.0	118.0	126.0					16																	53514621		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53514621C>G	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3024C>G	16.37:g.53514621C>G	ENSP00000262133:p.Phe1008Leu					RBL2_uc002ehj.2_Missense_Mutation_p.F718L|RBL2_uc010vgw.1_Intron	p.F1008L	NM_005611	NP_005602	Q08999	RBL2_HUMAN			20	3142	+			1008			Domain B.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.3024C>G	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879351	0.91740	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.93604	-3.25	5.67	4.53	0.55603	Retinoblastoma-associated protein, B-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.96639	0.8903	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.992	D	0.96945	0.9690	10	0.87932	D	0	-18.2381	15.517	0.75833	0.0:0.9229:0.0:0.0771	.	718;1008	E9PG04;Q08999	.;RBL2_HUMAN	L	1008;718	ENSP00000262133:F1008L	ENSP00000262133:F1008L	F	+	3	2	RBL2	52072122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.774000	0.62339	2.669000	0.90835	0.650000	0.86243	TTC		0.453	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3		NM_005611		94	45	0	0	0	0.01441	0	94	45		
CETP	1071	broad.mit.edu	37	16	57016076	57016076	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:57016076G>A	ENST00000566128.1	+	14	1320		c.e14-1		CETP_ENST00000200676.3_Splice_Site|CETP_ENST00000379780.2_Splice_Site					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TTGATTGGCAGAGCAGCTCCG	0.577																																						uc002eki.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.e14-1		cholesteryl ester transfer protein, plasma							111.0	90.0	98.0					16																	57016076		2198	4300	6498	SO:0001630	splice_region_variant	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57016076G>A	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.1054-1G>A	16.37:g.57016076G>A						CETP_uc002ekj.2_Splice_Site_p.S357_splice	p.S417_splice	NM_000078	NP_000069	P11597	CETP_HUMAN			14	1306	+									Splice_Site	SNP	ENST00000566128.1	37	c.1249_splice		.	.	.	.	.	.	.	.	.	.	g	10.62	1.401572	0.25291	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	.	.	.	2.98	0.963	0.19649	.	.	.	.	.	.	.	.	.	.	.	0.21740	N	0.999569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3232	0.11027	0.1389:0.2603:0.6008:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CETP	55573577	0.597000	0.26874	0.060000	0.19600	0.370000	0.29829	1.171000	0.31896	0.289000	0.22422	0.457000	0.33378	.		0.577	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1		NM_000078	Intron	38	28	0	0	0	0.007835	0	38	28		
NLRC5	84166	broad.mit.edu	37	16	57062240	57062240	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:57062240G>A	ENST00000262510.6	+	8	2411	c.2186G>A	c.(2185-2187)cGa>cAa	p.R729Q	NLRC5_ENST00000539144.1_Missense_Mutation_p.R729Q|NLRC5_ENST00000308149.7_Missense_Mutation_p.R729Q|NLRC5_ENST00000436936.1_Missense_Mutation_p.R729Q	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	729					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ATCACTGCCCGAGGCATCAGC	0.552																																						uc002ekk.1		NaN																	0				ovary(4)|skin(2)|breast(1)	7						c.(2185-2187)CGA>CAA		nucleotide-binding oligomerization domains 27							110.0	101.0	104.0					16																	57062240		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57062240G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2186G>A	16.37:g.57062240G>A	ENSP00000262510:p.Arg729Gln					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Missense_Mutation_p.R534Q|NLRC5_uc002ekm.2_Missense_Mutation_p.R534Q|NLRC5_uc010ccr.1_RNA	p.R729Q	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			8	2411	+		all_neural(199;0.225)	729			LRR 2.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.2186G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447151	0.25987	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.46	-6.08	0.02151	.	1.475680	0.05052	N	0.478437	T	0.20292	0.0488	N	0.08118	0	0.09310	N	1	B;B;B	0.17465	0.022;0.014;0.003	B;B;B	0.14578	0.004;0.011;0.003	T	0.23440	-1.0188	10	0.07990	T	0.79	.	6.3251	0.21239	0.6393:0.0991:0.1614:0.1002	.	729;729;729	Q86WI3-4;Q86WI3-6;Q86WI3	.;.;NLRC5_HUMAN	Q	729;729;729;203;729;236	ENSP00000262510:R729Q;ENSP00000308886:R729Q;ENSP00000389739:R729Q;ENSP00000441727:R729Q;ENSP00000441597:R236Q	ENSP00000262510:R729Q	R	+	2	0	NLRC5	55619741	0.004000	0.15560	0.464000	0.27143	0.979000	0.70002	-1.494000	0.02296	-1.148000	0.02847	-0.897000	0.02905	CGA		0.552	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1		NM_032206		43	117	0	0	0	0.010771	0	43	117		
CPNE2	221184	broad.mit.edu	37	16	57181557	57181557	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:57181557C>G	ENST00000535318.2	+	17	1995	c.1634C>G	c.(1633-1635)tCg>tGg	p.S545W	CPNE2_ENST00000537605.1_Missense_Mutation_p.S443W|CPNE2_ENST00000290776.8_Missense_Mutation_p.S545W|CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000565874.1_Missense_Mutation_p.S545W			Q96FN4	CPNE2_HUMAN	copine II	545						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CCCACCAACTCGGAGCCCGCC	0.602																																						uc002eks.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1633-1635)TCG>TGG		copine II							40.0	37.0	38.0					16																	57181557		2198	4300	6498	SO:0001583	missense	221184							g.chr16:57181557C>G		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.1634C>G	16.37:g.57181557C>G	ENSP00000439018:p.Ser545Trp					CPNE2_uc010cct.1_Missense_Mutation_p.S571W|CPNE2_uc010ccu.1_Missense_Mutation_p.S545W|CPNE2_uc002ekt.1_3'UTR	p.S545W	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN			16	1863	+		all_neural(199;0.224)	545					Q68D19|Q719H8|Q86XP9	Missense_Mutation	SNP	ENST00000535318.2	37	c.1634C>G	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942476	0.53079	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.09073	3.43;3.02;3.43	4.61	2.55	0.30701	.	.	.	.	.	T	0.08313	0.0207	L	0.32530	0.975	0.46678	D	0.999157	D;P	0.57257	0.979;0.923	P;B	0.44990	0.466;0.346	T	0.19943	-1.0290	9	0.87932	D	0	-0.8787	9.4032	0.38447	0.0:0.7103:0.1321:0.1576	.	545;545	A8K8A4;Q96FN4	.;CPNE2_HUMAN	W	545;443;545	ENSP00000290776:S545W;ENSP00000445468:S443W;ENSP00000439018:S545W	ENSP00000290776:S545W	S	+	2	0	CPNE2	55739058	0.975000	0.34042	1.000000	0.80357	0.973000	0.67179	2.814000	0.48010	1.164000	0.42652	0.655000	0.94253	TCG		0.602	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2		NM_152727		8	13	0	0	0	0.004482	0	8	13		
CX3CL1	6376	broad.mit.edu	37	16	57416765	57416765	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:57416765C>T	ENST00000006053.6	+	3	1126	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	CX3CL1_ENST00000565912.1_Missense_Mutation_p.R301W|CX3CL1_ENST00000563383.1_Missense_Mutation_p.R345W	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	339	Mucin-like stalk.	Cleavage; to produce soluble form. {ECO:0000255}.			angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCTGCCACCCGGAGGCAGGC	0.657																																						uc002eli.2		NaN																	0					0						c.(1015-1017)CGG>TGG		chemokine (C-X3-C motif) ligand 1 precursor							40.0	42.0	41.0					16																	57416765		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416765C>T	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.1015C>T	16.37:g.57416765C>T	ENSP00000006053:p.Arg339Trp						p.R339W	NM_002996	NP_002987	P78423	X3CL1_HUMAN			3	1082	+			339			Mucin-like stalk.|Extracellular (Potential).	Cleavage; to produce soluble form (Potential).	O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.1015C>T	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713142	0.48517	.	.	ENSG00000006210	ENST00000006053	T	0.15603	2.41	5.0	1.71	0.24356	.	0.609209	0.13541	N	0.380184	T	0.29524	0.0736	L	0.36672	1.1	0.33847	D	0.632132	D	0.89917	1.0	D	0.91635	0.999	T	0.40040	-0.9584	10	0.87932	D	0	-32.9387	10.5464	0.45062	0.5077:0.4923:0.0:0.0	.	339	P78423	X3CL1_HUMAN	W	339	ENSP00000006053:R339W	ENSP00000006053:R339W	R	+	1	2	CX3CL1	55974266	0.995000	0.38212	0.844000	0.33320	0.196000	0.23810	0.370000	0.20433	0.485000	0.27652	-0.269000	0.10298	CGG		0.657	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3		NM_002996		9	26	0	0	0	0.001855	0	9	26		
CDH16	1014	broad.mit.edu	37	16	66945993	66945993	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:66945993C>G	ENST00000299752.4	-	13	1792	c.1599G>C	c.(1597-1599)caG>caC	p.Q533H	CDH16_ENST00000394055.3_Missense_Mutation_p.Q533H|CDH16_ENST00000568632.1_Missense_Mutation_p.Q436H|CDH16_ENST00000565796.1_Missense_Mutation_p.Q533H|CDH16_ENST00000570262.1_Missense_Mutation_p.Q453H	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	533	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCGCCACACTCTGCACCACCA	0.637																																						uc002eql.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1597-1599)CAG>CAC		cadherin 16 precursor							50.0	48.0	48.0					16																	66945993		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66945993C>G	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1599G>C	16.37:g.66945993C>G	ENSP00000299752:p.Gln533His					CDH16_uc010cdy.2_Missense_Mutation_p.Q533H|CDH16_uc002eqm.2_Missense_Mutation_p.Q436H	p.Q533H	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	13	1672	-		Ovarian(137;0.0563)	533			Extracellular (Potential).|Cadherin 5.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1599G>C	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	4.801	0.149018	0.09185	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.53206	0.63;0.63	5.07	-0.914	0.10497	Cadherin (4);Cadherin-like (1);	0.322762	0.28409	N	0.015441	T	0.34019	0.0883	L	0.35341	1.055	0.09310	N	1	B;B;P	0.37612	0.164;0.196;0.602	B;B;P	0.44518	0.063;0.183;0.452	T	0.18808	-1.0325	10	0.54805	T	0.06	-2.4429	1.94	0.03345	0.1495:0.3865:0.2914:0.1726	.	533;533;533	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	H	533;533;497	ENSP00000377619:Q533H;ENSP00000299752:Q533H	ENSP00000299752:Q533H	Q	-	3	2	CDH16	65503494	0.001000	0.12720	0.003000	0.11579	0.008000	0.06430	-0.292000	0.08332	-0.001000	0.14495	-0.502000	0.04539	CAG		0.637	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2		NM_004062		6	22	0	0	0	0.001984	0	6	22		
HSF4	3299	broad.mit.edu	37	16	67203215	67203215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:67203215G>C	ENST00000521374.1	+	12	1288	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q	HSF4_ENST00000264009.8_Missense_Mutation_p.E430Q|HSF4_ENST00000421453.1_Missense_Mutation_p.E400Q|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000584272.1_Missense_Mutation_p.E400Q|NOL3_ENST00000432069.2_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	430					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGGTGAGCCTGAGCTGGCGGT	0.597																																						uc002erl.1		NaN																	0					0						c.(1288-1290)GAG>CAG		heat shock transcription factor 4 isoform b							34.0	38.0	37.0					16																	67203215		2003	4177	6180	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67203215G>C	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1288G>C	16.37:g.67203215G>C	ENSP00000430947:p.Glu430Gln					HSF4_uc002erm.1_Missense_Mutation_p.E400Q|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_Intron|NOL3_uc010vjc.1_5'Flank	p.E430Q	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	14	2253	+		Ovarian(137;0.0563)	430					Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.1288G>C	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.362700|4.362700	0.82353|0.82353	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374|ENST00000519601;ENST00000521916	.|.	.|.	.|.	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	0.292387|.	0.28572|.	N|.	0.014874|.	T|.	0.45034|.	0.1322|.	L|L	0.32530|0.32530	0.975|0.975	0.32887|0.32887	D|D	0.511305|0.511305	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.80764|.	0.994;0.986|.	T|.	0.53556|.	-0.8422|.	9|.	0.31617|.	T|.	0.26|.	-13.9704|-13.9704	13.0653|13.0653	0.59030|0.59030	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	400;430|.	Q9ULV5-2;Q9ULV5|.	.;HSF4_HUMAN|.	Q|S	400;430;354;430|161;21	.|.	ENSP00000264009:E430Q|.	E|X	+|+	1|2	0|2	HSF4|HSF4	65760716|65760716	0.997000|0.997000	0.39634|0.39634	0.841000|0.841000	0.33234|0.33234	0.970000|0.970000	0.65996|0.65996	4.693000|4.693000	0.61753|0.61753	2.419000|2.419000	0.82065|0.82065	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.597	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1		NM_001538		6	13	0	0	0	0.001168	0	6	13		
NOL3	8996	broad.mit.edu	37	16	67208208	67208208	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:67208208G>A	ENST00000568146.1	+	2	189	c.136G>A	c.(136-138)Gag>Aag	p.E46K	KIAA0895L_ENST00000563831.2_5'Flank|NOL3_ENST00000268605.7_Missense_Mutation_p.E46K|NOL3_ENST00000564053.1_Missense_Mutation_p.E108K|NOL3_ENST00000432069.2_Missense_Mutation_p.E46K			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	46	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCCAGAGTACGAGGCATTGGA	0.706																																						uc010vjd.1		NaN																	0					0						c.(322-324)GAG>AAG		RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;							10.0	12.0	11.0					16																	67208208		2069	4180	6249	SO:0001583	missense	8996				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding	g.chr16:67208208G>A	AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		ENST00000568146.1:c.136G>A	16.37:g.67208208G>A	ENSP00000454598:p.Glu46Lys					NOL3_uc010vjc.1_Missense_Mutation_p.E108K|NOL3_uc002erp.2_Missense_Mutation_p.E46K	p.E108K			O60936	NOL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	2	329	+		Ovarian(137;0.192)	46			CARD.		B4DFL0|O60937	Missense_Mutation	SNP	ENST00000568146.1	37	c.322G>A	CCDS58473.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.895989	0.72639	.	.	ENSG00000140939	ENST00000432069;ENST00000268605	T;T	0.34072	1.38;1.38	4.95	4.95	0.65309	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.56097	D	0.000039	T	0.53965	0.1829	L	0.54323	1.7	0.40699	D	0.98246	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.968	T	0.58267	-0.7666	10	0.87932	D	0	-30.6878	13.69	0.62539	0.0:0.0:1.0:0.0	.	46;108	O60936;B4DFL0	NOL3_HUMAN;.	K	46	ENSP00000399831:E46K;ENSP00000268605:E46K	ENSP00000268605:E46K	E	+	1	0	NOL3	65765709	1.000000	0.71417	0.993000	0.49108	0.036000	0.12997	5.356000	0.66052	2.303000	0.77524	0.455000	0.32223	GAG		0.706	NOL3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422746.1				4	8	0	0	0	0.009096	0	4	8		
KCTD19	146212	broad.mit.edu	37	16	67324826	67324826	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:67324826C>G	ENST00000304372.5	-	15	2684	c.2629G>C	c.(2629-2631)Gac>Cac	p.D877H		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	877					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGTGCCGGTCATCCTTGAAG	0.607																																						uc002esu.2		NaN																	0				skin(1)	1						c.(2629-2631)GAC>CAC		potassium channel tetramerisation domain							53.0	60.0	58.0					16																	67324826		2006	4178	6184	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67324826C>G	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2629G>C	16.37:g.67324826C>G	ENSP00000305702:p.Asp877His					KCTD19_uc002est.2_Missense_Mutation_p.D649H|KCTD19_uc010vjj.1_Missense_Mutation_p.D620H	p.D877H	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	15	2680	-		Ovarian(137;0.192)	877					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2629G>C	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131224	0.77549	.	.	ENSG00000168676	ENST00000304372	T	0.66280	-0.2	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000009	T	0.67942	0.2947	N	0.24115	0.695	0.41670	D	0.989232	D	0.89917	1.0	D	0.68192	0.956	T	0.71768	-0.4493	10	0.72032	D	0.01	-21.9252	16.4884	0.84191	0.0:1.0:0.0:0.0	.	877	Q17RG1	KCD19_HUMAN	H	877	ENSP00000305702:D877H	ENSP00000305702:D877H	D	-	1	0	KCTD19	65882327	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.198000	0.51035	2.689000	0.91719	0.462000	0.41574	GAC		0.607	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1		XM_085367		5	10	0	0	0	0.000602	0	5	10		
CENPT	80152	broad.mit.edu	37	16	67865789	67865789	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:67865789C>G	ENST00000562787.1	-	8	939	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	CENPT_ENST00000219172.3_Missense_Mutation_p.E131Q|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Missense_Mutation_p.E131Q|CENPT_ENST00000564817.1_Missense_Mutation_p.E131Q|CENPT_ENST00000445712.2_Missense_Mutation_p.E28Q	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	131	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGTTGCAGCTCCAGGCTATAA	0.557																																						uc002eun.3		NaN																	0					0						c.(391-393)GAG>CAG		centromere protein T							18.0	21.0	20.0					16																	67865789		1925	4117	6042	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865789C>G	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.391G>C	16.37:g.67865789C>G	ENSP00000457810:p.Glu131Gln					CENPT_uc002eum.3_Missense_Mutation_p.E131Q|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_Intron|CENPT_uc010vke.1_Missense_Mutation_p.E28Q	p.E131Q	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	8	940	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	131					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.391G>C	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752383	0.89753	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	T;T;T	0.49720	0.77;0.77;0.77	5.95	5.95	0.96441	.	0.181886	0.38837	N	0.001544	T	0.67739	0.2925	M	0.73598	2.24	0.39360	D	0.965907	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.74023	0.982;0.974;0.952	T	0.66023	-0.6026	10	0.34782	T	0.22	-21.7725	15.8933	0.79318	0.0:1.0:0.0:0.0	.	28;131;131	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	Q	131;131;28	ENSP00000400140:E131Q;ENSP00000219172:E131Q;ENSP00000411594:E28Q	ENSP00000219172:E131Q	E	-	1	0	CENPT	66423290	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.549000	0.53681	2.824000	0.97209	0.655000	0.94253	GAG		0.557	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1		NM_025082		6	13	0	0	0	0.001168	0	6	13		
TMED6	146456	broad.mit.edu	37	16	69385466	69385466	+	Missense_Mutation	SNP	C	C	T	rs375396172		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:69385466C>T	ENST00000288025.3	-	1	246	c.191G>A	c.(190-192)gGa>gAa	p.G64E	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Nonsense_Mutation_p.W56*	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	64	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						ATAGAAGTATCCAGTCTGGTG	0.483																																						uc002exc.1		NaN																	0				ovary(1)	1						c.(190-192)GGA>GAA		transmembrane emp24 protein transport domain							80.0	77.0	78.0					16																	69385466		2198	4300	6498	SO:0001583	missense	146456				transport	endoplasmic reticulum membrane|integral to membrane		g.chr16:69385466C>T	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.191G>A	16.37:g.69385466C>T	ENSP00000288025:p.Gly64Glu						p.G64E	NM_144676	NP_653277	Q8WW62	TMED6_HUMAN			1	224	-			64			Lumenal (Potential).|GOLD.		Q6UXN5	Missense_Mutation	SNP	ENST00000288025.3	37	c.191G>A	CCDS10878.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938916	0.73557	.	.	ENSG00000157315	ENST00000288025	T	0.16196	2.36	5.85	5.85	0.93711	GOLD (2);	0.105320	0.64402	D	0.000004	T	0.30417	0.0764	L	0.50333	1.59	0.58432	D	0.999997	D	0.67145	0.996	P	0.60345	0.873	T	0.02484	-1.1152	10	0.05351	T	0.99	-9.3421	20.1634	0.98142	0.0:1.0:0.0:0.0	.	64	Q8WW62	TMED6_HUMAN	E	64	ENSP00000288025:G64E	ENSP00000288025:G64E	G	-	2	0	TMED6	67942967	0.999000	0.42202	0.996000	0.52242	0.997000	0.91878	4.002000	0.57053	2.773000	0.95371	0.655000	0.94253	GGA		0.483	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1		NM_144676		24	44	0	0	0	0.003954	0	24	44		
NFAT5	10725	broad.mit.edu	37	16	69726682	69726682	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:69726682C>T	ENST00000354436.2	+	12	3218	c.2900C>T	c.(2899-2901)tCt>tTt	p.S967F	NFAT5_ENST00000432919.1_Missense_Mutation_p.S985F|NFAT5_ENST00000567239.1_Missense_Mutation_p.S984F|NFAT5_ENST00000393742.2_Missense_Mutation_p.S891F|NFAT5_ENST00000349945.1_Missense_Mutation_p.S891F|NFAT5_ENST00000566899.1_Missense_Mutation_p.S891F	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	967	Poly-Thr.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AATGAAACTTCTACAACTACC	0.428																																						uc002exm.1		NaN																	0					0						c.(2899-2901)TCT>TTT		nuclear factor of activated T-cells 5 isoform c							116.0	101.0	106.0					16																	69726682		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726682C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2900C>T	16.37:g.69726682C>T	ENSP00000346420:p.Ser967Phe					NFAT5_uc002exi.2_Missense_Mutation_p.S891F|NFAT5_uc002exj.1_Missense_Mutation_p.S891F|NFAT5_uc002exk.1_Missense_Mutation_p.S891F|NFAT5_uc002exl.1_Missense_Mutation_p.S985F|NFAT5_uc002exn.1_Missense_Mutation_p.S984F|NFAT5_uc002exo.1_5'Flank	p.S967F	NM_006599	NP_006590	O94916	NFAT5_HUMAN			12	4108	+			967			Poly-Thr.		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.2900C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	8.795	0.931443	0.18131	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.46	4.5	0.54988	.	0.930736	0.09317	N	0.818771	T	0.46580	0.1400	L	0.59436	1.845	0.09310	N	0.999993	B;B;B	0.31009	0.303;0.07;0.07	B;B;B	0.28991	0.097;0.085;0.046	T	0.43718	-0.9374	10	0.72032	D	0.01	-1.1564	10.6579	0.45686	0.264:0.6084:0.1276:0.0	.	984;967;985	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	F	985;984;891;967;891	ENSP00000396538:S985F;ENSP00000338806:S891F;ENSP00000346420:S967F;ENSP00000377343:S891F	ENSP00000338806:S891F	S	+	2	0	NFAT5	68284183	0.213000	0.23551	0.930000	0.37139	0.985000	0.73830	1.745000	0.38278	1.411000	0.46957	0.655000	0.94253	TCT		0.428	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2		NM_138714		19	58	0	0	0	0.006122	0	19	58		
AARS	16	broad.mit.edu	37	16	70301626	70301626	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:70301626G>A	ENST00000261772.8	-	9	1301	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	AARS_ENST00000564359.1_5'Flank	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		GCCCTCTGCTGAGAGTCTTGA	0.517											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002eyn.1		NaN																	0				pancreas(1)	1						c.(1156-1158)CTC>CTT		alanyl-tRNA synthetase	L-Alanine(DB00160)						137.0	122.0	127.0					16																	70301626		2198	4300	6498	SO:0001819	synonymous_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70301626G>A	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1158C>T	16.37:g.70301626G>A			OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	AARS_uc010vlu.1_Silent_p.L216L	p.L386L	NM_001605	NP_001596	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	9	1268	-		Ovarian(137;0.0365)	386						Silent	SNP	ENST00000261772.8	37	c.1158C>T	CCDS32474.1																																																																																				0.517	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2		NM_001605		19	37	0	0	0	0.006122	0	19	37		
FUK	197258	broad.mit.edu	37	16	70504931	70504931	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:70504931G>A	ENST00000288078.6	+	12	1358	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	FUK_ENST00000378912.2_Missense_Mutation_p.V408I|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	376						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGAGGGCCCTGTCCAGCTGGG	0.682																																						uc002eyy.2		NaN																	0				ovary(1)	1						c.(1126-1128)GTC>ATC		fucokinase							17.0	22.0	20.0					16																	70504931		2091	4232	6323	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70504931G>A		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1126G>A	16.37:g.70504931G>A	ENSP00000288078:p.Val376Ile					FUK_uc010cft.2_Missense_Mutation_p.V408I|FUK_uc002eyz.2_5'UTR	p.V376I	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			12	1184	+		Ovarian(137;0.0694)	376					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.1126G>A	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	G	5.687	0.311297	0.10789	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.36340	1.26;1.26	5.84	1.74	0.24563	L-fucokinase (1);	0.344325	0.30076	N	0.010463	T	0.20251	0.0487	L	0.31845	0.965	0.44201	D	0.997021	B;B	0.33266	0.404;0.37	B;B	0.30316	0.093;0.114	T	0.07966	-1.0745	10	0.07325	T	0.83	-15.1961	8.9324	0.35680	0.2905:0.0:0.7095:0.0	.	408;376	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	I	376;408	ENSP00000288078:V376I;ENSP00000368192:V408I	ENSP00000288078:V376I	V	+	1	0	FUK	69062432	0.936000	0.31750	0.001000	0.08648	0.145000	0.21501	1.919000	0.40015	0.116000	0.18110	-0.140000	0.14226	GTC		0.682	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2		NM_145059		4	3	0	0	0	0.000602	0	4	3		
COG4	25839	broad.mit.edu	37	16	70546183	70546183	+	Missense_Mutation	SNP	C	C	T	rs387907202		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:70546183C>T	ENST00000323786.5	-	5	718	c.697G>A	c.(697-699)Gag>Aag	p.E233K	COG4_ENST00000393612.4_Missense_Mutation_p.E229K|COG4_ENST00000564653.1_Missense_Mutation_p.M190I	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	229					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AATCCCTCCTCATGCAAACCC	0.522																																						uc002ezc.2		NaN																	0					0						c.(697-699)GAG>AAG		component of oligomeric golgi complex 4							94.0	83.0	87.0					16																	70546183		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70546183C>T	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.697G>A	16.37:g.70546183C>T	ENSP00000315775:p.Glu233Lys					COG4_uc002ezb.2_5'Flank|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.E233K|COG4_uc002eze.2_5'UTR	p.E233K	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			5	708	-		Ovarian(137;0.0694)	229					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.697G>A	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861131	0.91433	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	T;T;T	0.47528	0.91;0.91;0.84	5.53	5.53	0.82687	Conserved oligomeric Golgi complex, subunit 4 (2);	0.047078	0.85682	D	0.000000	T	0.47948	0.1473	L	0.53729	1.69	0.29873	N	0.826705	B;B	0.32283	0.202;0.362	B;B	0.32980	0.109;0.156	T	0.47971	-0.9075	10	0.33141	T	0.24	-20.1825	19.466	0.94939	0.0:1.0:0.0:0.0	.	228;229	Q6PIW8;Q9H9E3	.;COG4_HUMAN	K	233;229;229;156	ENSP00000315775:E233K;ENSP00000377236:E229K;ENSP00000461912:E156K	ENSP00000315775:E233K	E	-	1	0	COG4	69103684	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.899000	0.69846	2.607000	0.88179	0.655000	0.94253	GAG		0.522	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3				22	30	0	0	0	0.00278	0	22	30		
CDH13	1012	broad.mit.edu	37	16	83817067	83817067	+	Silent	SNP	C	C	T	rs368686949		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:83817067C>T	ENST00000566620.1	+	13	2414	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	CDH13_ENST00000268613.10_Silent_p.F755F|CDH13_ENST00000428848.3_Silent_p.F669F	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	708					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCAGCCTCTTCAGCTTAGCTT	0.522																																						uc002fgx.2		NaN																	0				large_intestine(1)	1						c.(2122-2124)TTC>TTT		cadherin 13 preproprotein		C	,,,	0,4080		0,0,2040	70.0	69.0	69.0		2265,2007,1362,2124	4.9	1.0	16		69	1,8349		0,1,4174	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CDH13	NM_001220488.1,NM_001220489.1,NM_001220490.1,NM_001257.4	,,,	0,1,6214	TT,TC,CC		0.012,0.0,0.0080	,,,	755/761,669/675,454/460,708/714	83817067	1,12429	2040	4175	6215	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83817067C>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.2124C>T	16.37:g.83817067C>T						CDH13_uc010vns.1_Silent_p.F755F|CDH13_uc010vnt.1_Silent_p.F454F|CDH13_uc010vnu.1_Silent_p.F669F	p.F708F	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	13	2244	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	708					A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.2124C>T	CCDS58486.1																																																																																				0.522	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1		NM_001257		29	41	0	0	0	0.010818	0	29	41		
ZZEF1	23140	broad.mit.edu	37	17	4045890	4045890	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:4045890G>A	ENST00000381638.2	-	1	424	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CYB5D2_ENST00000573984.1_5'Flank|CYB5D2_ENST00000575251.1_5'Flank|CYB5D2_ENST00000301391.3_5'Flank|ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	100							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCAGCTCCCGGAACTGCTCCA	0.716																																						uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(298-300)TTC>TTT		zinc finger, ZZ type with EF hand domain 1							14.0	17.0	16.0					17																	4045890		1981	4022	6003	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:4045890G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.300C>T	17.37:g.4045890G>A						ZZEF1_uc002fxk.1_Silent_p.F100F|CYB5D2_uc002fxm.3_5'Flank|CYB5D2_uc010cko.2_5'Flank|CYB5D2_uc002fxl.3_5'Flank	p.F100F	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			1	364	-			100					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.300C>T	CCDS11043.1																																																																																				0.716	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		8	4	0	0	0	0.013537	0	8	4		
PELP1	27043	broad.mit.edu	37	17	4577935	4577935	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:4577935C>T	ENST00000574876.1	-	13	1469	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Silent_p.G482G|PELP1_ENST00000572293.1_Silent_p.G534G|PELP1_ENST00000436683.2_Silent_p.G337G|PELP1_ENST00000301396.4_Silent_p.G628G			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	484					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCTGCAAACTCCCATCAGGGC	0.577																																						uc002fyi.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1450-1452)GGG>GGA		proline, glutamic acid and leucine rich protein							33.0	35.0	35.0					17																	4577935		1942	4142	6084	SO:0001819	synonymous_variant	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4577935C>T		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1452G>A	17.37:g.4577935C>T						PELP1_uc010vsf.1_Silent_p.G337G	p.G484G	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN			13	1678	-			484					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	c.1452G>A	CCDS58503.1																																																																																				0.577	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2		NM_014389		15	7	0	0	0	0.003163	0	15	7		
USP6	9098	broad.mit.edu	37	17	5058719	5058719	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5058719G>A	ENST00000574788.1	+	31	4876	c.2646G>A	c.(2644-2646)atG>atA	p.M882I	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.M565I|USP6_ENST00000250066.6_Missense_Mutation_p.M882I			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	882	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACATACAGATGAGGACAGAAC	0.453			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1		NaN		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(2644-2646)ATG>ATA		ubiquitin specific protease 6							151.0	135.0	140.0					17																	5058719		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5058719G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2646G>A	17.37:g.5058719G>A	ENSP00000460380:p.Met882Ile					USP6_uc002gav.1_Missense_Mutation_p.M882I|USP6_uc010ckz.1_Missense_Mutation_p.M565I	p.M882I	NM_004505	NP_004496	P35125	UBP6_HUMAN			31	4876	+			882					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.2646G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	2.861	-0.236182	0.05944	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.12984	3.0;2.63	2.91	2.91	0.33838	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.09202	0.0227	L	0.29908	0.895	0.50632	D	0.999889	B;B	0.13594	0.004;0.008	B;B	0.16289	0.004;0.015	T	0.13469	-1.0508	10	0.11794	T	0.64	.	11.6235	0.51132	0.0:0.0:1.0:0.0	.	565;882	P35125-2;P35125	.;UBP6_HUMAN	I	882;565	ENSP00000250066:M882I;ENSP00000305473:M565I	ENSP00000250066:M882I	M	+	3	0	USP6	4999443	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	7.656000	0.83736	1.614000	0.50241	0.398000	0.26397	ATG		0.453	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1		NM_004505		71	30	0	0	0	0.01441	0	71	30		
ZNF594	84622	broad.mit.edu	37	17	5086360	5086360	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5086360G>A	ENST00000399604.4	-	1	1332	c.1192C>T	c.(1192-1194)Cat>Tat	p.H398Y	ZNF594_ENST00000575779.1_Missense_Mutation_p.H398Y			Q96JF6	ZN594_HUMAN	zinc finger protein 594	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTCCTGTATGAGTTACCTGA	0.423																																						uc010cla.1		NaN																	0				ovary(2)|skin(1)	3						c.(1192-1194)CAT>TAT		zinc finger protein 594							171.0	174.0	173.0					17																	5086360		2056	4215	6271	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086360G>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1192C>T	17.37:g.5086360G>A	ENSP00000382513:p.His398Tyr						p.H398Y	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	1348	-			398			C2H2-type 10.		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1192C>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447970	0.43429	.	.	ENSG00000180626	ENST00000399604	T	0.67523	-0.27	0.641	0.641	0.17759	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84061	0.5389	H	0.95114	3.625	0.25043	N	0.991187	D	0.71674	0.998	D	0.85130	0.997	T	0.70528	-0.4847	9	0.87932	D	0	.	7.0739	0.25193	1.0E-4:0.0:0.9999:0.0	.	398	Q96JF6	ZN594_HUMAN	Y	398	ENSP00000382513:H398Y	ENSP00000382513:H398Y	H	-	1	0	ZNF594	5027084	1.000000	0.71417	0.008000	0.14137	0.005000	0.04900	5.173000	0.65010	0.604000	0.29930	0.467000	0.42956	CAT		0.423	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1		XM_290737		263	89	0	0	0	0.01441	0	263	89		
NUP88	4927	broad.mit.edu	37	17	5322700	5322700	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5322700C>T	ENST00000573584.1	-	1	780	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	RPAIN_ENST00000536255.2_5'Flank|RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000327154.6_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	91					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCGGGCTCTTCGCCGCCGCCG	0.602																																						uc002gbo.1		NaN																	0				kidney(1)	1						c.(271-273)GAA>AAA		nucleoporin 88kDa							24.0	29.0	27.0					17																	5322700		2199	4295	6494	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5322700C>T	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.271G>A	17.37:g.5322700C>T	ENSP00000458954:p.Glu91Lys					NUP88_uc010vsx.1_Missense_Mutation_p.E91K|NUP88_uc010cle.1_Missense_Mutation_p.E91K|NUP88_uc010vsy.1_Missense_Mutation_p.E91K|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	p.E91K	NM_002532	NP_002523	Q99567	NUP88_HUMAN			1	297	-			91					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.271G>A	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268279	0.23136	.	.	ENSG00000108559	ENST00000225696	.	.	.	5.19	3.17	0.36434	.	0.594145	0.18875	N	0.128726	T	0.25306	0.0615	L	0.29908	0.895	0.19300	N	0.999974	B;B	0.17268	0.021;0.004	B;B	0.12837	0.008;0.005	T	0.16748	-1.0392	9	0.16896	T	0.51	-0.1342	5.6757	0.17747	0.0:0.524:0.3104:0.1657	.	91;91	B7Z5I6;Q99567	.;NUP88_HUMAN	K	91	.	ENSP00000225696:E91K	E	-	1	0	NUP88	5263424	0.001000	0.12720	0.226000	0.23910	0.020000	0.10135	0.644000	0.24766	0.859000	0.35456	0.655000	0.94253	GAA		0.602	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3		NM_002532		20	27	0	0	0	0.007413	0	20	27		
NUP88	4927	broad.mit.edu	37	17	5322772	5322772	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5322772C>G	ENST00000573584.1	-	1	708	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	RPAIN_ENST00000536255.2_5'Flank|RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000327154.6_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	67					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						AGGAAAAGCTCTCCGCCGAGG	0.632																																						uc002gbo.1		NaN																	0				kidney(1)	1						c.(199-201)GAG>CAG		nucleoporin 88kDa							72.0	75.0	74.0					17																	5322772		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5322772C>G	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.199G>C	17.37:g.5322772C>G	ENSP00000458954:p.Glu67Gln					NUP88_uc010vsx.1_Missense_Mutation_p.E67Q|NUP88_uc010cle.1_Missense_Mutation_p.E67Q|NUP88_uc010vsy.1_Missense_Mutation_p.E67Q|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	p.E67Q	NM_002532	NP_002523	Q99567	NUP88_HUMAN			1	225	-			67					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.199G>C	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	C	35	5.595455	0.96602	.	.	ENSG00000108559	ENST00000225696	.	.	.	5.19	5.19	0.71726	.	0.150589	0.56097	D	0.000026	T	0.50854	0.1640	L	0.29908	0.895	0.43982	D	0.996678	P;P	0.38335	0.627;0.505	B;B	0.40659	0.287;0.336	T	0.46624	-0.9178	9	0.33940	T	0.23	-19.4956	17.8135	0.88624	0.0:1.0:0.0:0.0	.	67;67	B7Z5I6;Q99567	.;NUP88_HUMAN	Q	67	.	ENSP00000225696:E67Q	E	-	1	0	NUP88	5263496	0.992000	0.36948	0.997000	0.53966	0.984000	0.73092	3.309000	0.51903	2.865000	0.98341	0.655000	0.94253	GAG		0.632	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3		NM_002532		37	41	0	0	0	0.006999	0	37	41		
NLRP1	22861	broad.mit.edu	37	17	5418329	5418329	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5418329C>T	ENST00000572272.1	-	17	4166	c.4167G>A	c.(4165-4167)ctG>ctA	p.L1389L	NLRP1_ENST00000262467.5_Intron|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000354411.3_Silent_p.L1359L|NLRP1_ENST00000269280.4_Silent_p.L1345L|NLRP1_ENST00000345221.3_Silent_p.L1345L|NLRP1_ENST00000577119.1_Silent_p.L1315L			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1389	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTCGGGCTATCAGCTGCTCTC	0.577																																						uc002gci.2		NaN																	0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(4165-4167)CTG>CTA		NLR family, pyrin domain containing 1 isoform 1							63.0	67.0	66.0					17																	5418329		2106	4234	6340	SO:0001819	synonymous_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5418329C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4167G>A	17.37:g.5418329C>T						NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Silent_p.L1345L|NLRP1_uc002gcj.2_Silent_p.L1359L|NLRP1_uc002gcl.2_Silent_p.L1315L|NLRP1_uc002gch.3_Silent_p.L1345L	p.L1389L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			17	4722	-		Colorectal(1115;3.48e-05)	1389			CARD.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	c.4167G>A	CCDS42246.1																																																																																				0.577	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1		NM_033004		20	19	0	0	0	0.007413	0	20	19		
PITPNM3	83394	broad.mit.edu	37	17	6358809	6358809	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:6358809C>T	ENST00000262483.8	-	20	2861	c.2774G>A	c.(2773-2775)aGa>aAa	p.R925K	PITPNM3_ENST00000421306.3_Missense_Mutation_p.R889K|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	925					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGACATGGTTCTGCGCAGGTG	0.677																																						uc002gdd.3		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(2773-2775)AGA>AAA		PITPNM family member 3 isoform 1							22.0	28.0	26.0					17																	6358809		2192	4298	6490	SO:0001583	missense	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6358809C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2774G>A	17.37:g.6358809C>T	ENSP00000262483:p.Arg925Lys					PITPNM3_uc010cln.2_Missense_Mutation_p.R889K|PITPNM3_uc010clm.2_Missense_Mutation_p.R408K|PITPNM3_uc002gdc.3_Missense_Mutation_p.R516K	p.R925K	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	20	2925	-			925					A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2774G>A	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	36	5.716020	0.96830	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.52526	0.66;0.67	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	M	0.72353	2.195	0.45580	D	0.99852	D;D	0.76494	0.999;0.994	D;D	0.70716	0.968;0.97	T	0.71163	-0.4673	10	0.72032	D	0.01	.	15.693	0.77469	0.0:1.0:0.0:0.0	.	889;925	F8WEW5;Q9BZ71	.;PITM3_HUMAN	K	925;889	ENSP00000262483:R925K;ENSP00000407882:R889K	ENSP00000262483:R925K	R	-	2	0	PITPNM3	6299533	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.746000	0.85057	2.371000	0.80710	0.505000	0.49811	AGA		0.677	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2		NM_031220		16	5	0	0	0	0.004007	0	16	5		
DVL2	1856	broad.mit.edu	37	17	7129501	7129501	+	Missense_Mutation	SNP	G	G	A	rs200445258	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7129501G>A	ENST00000005340.5	-	15	2176	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.R626W|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	632					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCACCCCGCCGAAGGCTGCCC	0.716													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13492	0.0		0.0	False		,,,				2504	0.0					uc002gez.1		NaN																	0				lung(1)|kidney(1)	2						c.(1894-1896)CGG>TGG		dishevelled 2		G	TRP/ARG	1,4405		0,1,2202	25.0	30.0	28.0		1894	4.7	1.0	17		28	1,8595		0,1,4297	yes	missense	DVL2	NM_004422.2	101	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign	632/737	7129501	2,13000	2203	4298	6501	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7129501G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1894C>T	17.37:g.7129501G>A	ENSP00000005340:p.Arg632Trp					uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank|DVL2_uc010vtr.1_Missense_Mutation_p.R626W	p.R632W	NM_004422	NP_004413	O14641	DVL2_HUMAN			15	2176	-			632					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.1894C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353570	0.24512	2.27E-4	1.16E-4	ENSG00000004975	ENST00000005340	T	0.04706	3.57	5.67	4.71	0.59529	Dishevelled C-terminal (1);	0.364396	0.29987	N	0.010683	T	0.07458	0.0188	M	0.76002	2.32	0.46336	D	0.998995	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.09930	-1.0652	10	0.36615	T	0.2	-8.6619	7.3902	0.26905	0.0846:0.0:0.7491:0.1662	.	626;632	B4DLQ0;O14641	.;DVL2_HUMAN	W	632	ENSP00000005340:R632W	ENSP00000005340:R632W	R	-	1	2	DVL2	7070225	1.000000	0.71417	0.951000	0.38953	0.452000	0.32318	3.633000	0.54295	1.405000	0.46838	0.655000	0.94253	CGG		0.716	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2		NM_004422		6	31	0	0	0	0.004482	0	6	31		
GABARAP	11337	broad.mit.edu	37	17	7145647	7145647	+	Start_Codon_SNP	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7145647C>T	ENST00000302386.5	-	1	442	c.3G>A	c.(1-3)atG>atA	p.M1I	PHF23_ENST00000571362.1_5'Flank|GABARAP_ENST00000571129.1_5'Flank|PHF23_ENST00000320316.3_5'Flank|GABARAP_ENST00000573928.1_Start_Codon_SNP_p.M1I|CTD-2545G14.7_ENST00000570760.2_Intron|GABARAP_ENST00000577035.1_5'Flank|PHF23_ENST00000576955.1_5'Flank|GABARAP_ENST00000571253.1_5'Flank	NM_007278.1	NP_009209.1	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	1	Interaction with beta-tubulin.				autophagy (GO:0006914)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|microtubule cytoskeleton organization (GO:0000226)|protein targeting (GO:0006605)|synaptic transmission (GO:0007268)	actin cytoskeleton (GO:0015629)|autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)			breast(1)|lung(2)	3						ACACGAACTTCATCCTCCCGG	0.672																																						uc002gfb.2		NaN																	0					0						c.(1-3)ATG>ATA		GABA(A) receptor-associated protein							39.0	42.0	41.0					17																	7145647		2203	4300	6503	SO:0001582	initiator_codon_variant	11337				protein targeting|synaptic transmission	autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane	beta-tubulin binding|GABA receptor binding	g.chr17:7145647C>T	AF161586	CCDS11092.1	17p13.1	2014-02-12			ENSG00000170296	ENSG00000170296			4067	protein-coding gene	gene with protein product		605125				9892355	Standard	NM_007278		Approved	MM46, ATG8A	uc002gfb.3	O95166	OTTHUMG00000102156	ENST00000302386.5:c.3G>A	17.37:g.7145647C>T	ENSP00000306866:p.Met1Ile					PHF23_uc002gfa.2_5'Flank|PHF23_uc010vtt.1_5'Flank|PHF23_uc010cma.2_5'Flank	p.M1I	NM_007278	NP_009209	O95166	GBRAP_HUMAN			1	107	-			1			Interaction with beta-tubulin.			Missense_Mutation	SNP	ENST00000302386.5	37	c.3G>A	CCDS11092.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386309	0.82902	.	.	ENSG00000170296	ENST00000302386	T	0.47177	0.85	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.33059	-0.9883	9	0.56958	D	0.05	-3.8297	15.4997	0.75687	0.0:1.0:0.0:0.0	.	1	O95166	GBRAP_HUMAN	I	1	ENSP00000306866:M1I	ENSP00000306866:M1I	M	-	3	0	GABARAP	7086371	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.795000	0.75140	2.502000	0.84385	0.655000	0.94253	ATG		0.672	GABARAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220000.2			Missense_Mutation	32	7	0	0	0	0.008361	0	32	7		
KCTD11	147040	broad.mit.edu	37	17	7256381	7256381	+	Silent	SNP	G	G	A	rs144008002		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7256381G>A	ENST00000333751.3	+	1	1174	c.120G>A	c.(118-120)ctG>ctA	p.L40L	TMEM95_ENST00000389982.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	40	BTB.				cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				TCAATTTCCTGAGGCTGGGCC	0.667																																						uc002gge.3		NaN																	0					0						c.(118-120)CTG>CTA		potassium channel tetramerisation domain		G		0,4406		0,0,2203	26.0	27.0	26.0		120	1.0	1.0	17	dbSNP_134	26	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCTD11	NM_001002914.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		40/233	7256381	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256381G>A	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.120G>A	17.37:g.7256381G>A						TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	p.L40L	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN			1	1174	+		Prostate(122;0.157)	40			BTB.		B3KPE0	Silent	SNP	ENST00000333751.3	37	c.120G>A	CCDS32545.1																																																																																				0.667	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2		NM_001002914		32	6	0	0	0	0.008361	0	32	6		
SOX15	6665	broad.mit.edu	37	17	7492785	7492785	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7492785C>T	ENST00000250055.2	-	1	703	c.210G>A	c.(208-210)caG>caA	p.Q70Q	FXR2_ENST00000573057.1_5'Flank|MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000570788.1_Silent_p.Q70Q|SOX15_ENST00000538513.2_Silent_p.Q70Q	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	70				QQ -> HE (in Ref. 7; CAA51520). {ECO:0000305}.	cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|male gonad development (GO:0008584)|myoblast development (GO:0048627)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue regeneration (GO:0043403)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)	2						TCTTGGGGTTCTGCTGCGCCA	0.682											OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ghy.1		NaN																	0				breast(1)	1						c.(208-210)CAG>CAA		SRY-box 15							32.0	34.0	34.0					17																	7492785		2203	4300	6503	SO:0001819	synonymous_variant	6665				chromatin organization|male gonad development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:7492785C>T	AJ006222	CCDS32549.1	17p13.1	2014-08-12	2002-07-22	2002-07-26	ENSG00000129194	ENSG00000129194		"""SRY (sex determining region Y)-boxes"""	11196	protein-coding gene	gene with protein product		601297	"""SRY (sex determining region Y)-box 20"""	SOX20		8978787, 9730625	Standard	NM_006942		Approved	SOX27, SOX26	uc002ghz.1	O60248	OTTHUMG00000178146	ENST00000250055.2:c.210G>A	17.37:g.7492785C>T			OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	642	MPDU1_uc010vuc.1_Intron|SOX15_uc002ghz.1_Silent_p.Q70Q	p.Q70Q	NM_006942	NP_008873	O60248	SOX15_HUMAN			2	358	-			70	QQ -> HE (in Ref. 5; CAA51520).		HMG box.		B4DWU7|D3DTQ0|P35717|Q9Y6W7	Silent	SNP	ENST00000250055.2	37	c.210G>A	CCDS32549.1																																																																																				0.682	SOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440757.1		NM_006942		12	9	0	0	0	0.001855	0	12	9		
TP53	7157	broad.mit.edu	37	17	7572986	7572986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7572986G>A	ENST00000269305.4	-	11	1312	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q375*	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	375	Basic (repression of DNA-binding).|Interaction with CARM1.				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.?(1)|p.Q375*(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)	GAGGTAGACTGACCCTTTTTG	0.527		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		10	Whole gene deletion(8)|Substitution - Nonsense(1)|Unknown(1)	p.0?(7)|p.?(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|urinary_tract(1)|stomach(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(1123-1125)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							193.0	173.0	180.0					17																	7572986		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7572986G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1123C>T	17.37:g.7572986G>A	ENSP00000269305:p.Gln375*	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_Intron|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.Q243*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.Q375*	p.Q375*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	11	1317	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	375			Basic (repression of DNA-binding).|Interaction with CARM1.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1123C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079412	0.76528	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	5.31	3.18	0.36537	.	0.952987	0.08806	N	0.891079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-7.9939	7.7108	0.28677	0.0:0.1941:0.6294:0.1765	.	.	.	.	X	375;375;364;26	.	ENSP00000269305:Q375X	Q	-	1	0	TP53	7513711	0.963000	0.33076	0.841000	0.33234	0.615000	0.37417	1.786000	0.38694	1.427000	0.47276	0.561000	0.74099	CAG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		68	24	0	0	0	0.01441	0	68	24		
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7577127C>T	ENST00000269305.4	-	8	1000	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K	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	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and 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.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)	ACACGCACCTCAAAGCTGTTC	0.537		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		74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(811-813)GAG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							58.0	51.0	54.0					17																	7577127		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577127C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.811G>A	17.37:g.7577127C>T	ENSP00000269305:p.Glu271Lys	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_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	p.E271K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1005	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.811G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512978	0.96402	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.999;1.0	D	0.96522	0.9386	10	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	271;271;271;271;271;260;139	ENSP00000352610:E271K;ENSP00000269305:E271K;ENSP00000398846:E271K;ENSP00000391127:E271K;ENSP00000391478:E271K;ENSP00000425104:E139K	ENSP00000269305:E271K	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		23	6	0	0	0	0.014323	0	23	6		
DNAH2	146754	broad.mit.edu	37	17	7702525	7702525	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7702525C>T	ENST00000572933.1	+	56	10124	c.8664C>T	c.(8662-8664)atC>atT	p.I2888I	DNAH2_ENST00000389173.2_Silent_p.I2888I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2888	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I2888I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTGCACATCGTGCTCTGCC	0.592																																						uc002giu.1		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(8662-8664)ATC>ATT		dynein heavy chain domain 3							109.0	87.0	95.0					17																	7702525		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7702525C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8664C>T	17.37:g.7702525C>T							p.I2888I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			55	8678	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2888			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.8664C>T	CCDS32551.1																																																																																				0.592	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		30	13	0	0	0	0.007291	0	30	13		
NAA38	84316	broad.mit.edu	37	17	7760451	7760451	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7760451G>A	ENST00000335155.5	-	2	146	c.147C>T	c.(145-147)ctC>ctT	p.L49L	LSMD1_ENST00000575208.1_5'UTR|LSMD1_ENST00000575771.1_5'UTR|LSMD1_ENST00000333775.5_Silent_p.L97L|LSMD1_ENST00000576384.1_5'UTR|LSMD1_ENST00000575071.1_5'UTR|LSMD1_ENST00000570555.1_5'Flank|CYB5D1_ENST00000332439.4_5'Flank|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000576861.1_Silent_p.L23L|CYB5D1_ENST00000570446.1_5'Flank			Q9BRA0	LSMD1_HUMAN		49					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				TAGTCTTGTTGAGCAGCGCCT	0.642											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(66;626 1401 29924 42527)	uc002giz.2		NaN																	0				ovary(1)	1						c.(145-147)CTC>CTT		RecName: Full=LSM domain-containing protein 1; AltName: Full=Phosphonoformate immuno-associated protein 2;							97.0	97.0	97.0					17																	7760451		2203	4300	6503	SO:0001819	synonymous_variant	84316					cytoplasm|nucleus		g.chr17:7760451G>A																												ENST00000335155.5:c.147C>T	17.37:g.7760451G>A			OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	LSMD1_uc002gja.2_Silent_p.L97L|CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank	p.L49L			Q9BRA0	LSMD1_HUMAN			2	246	-		all_cancers(10;0.11)|Prostate(122;0.219)	49			Potential.		Q8N4M0	Silent	SNP	ENST00000335155.5	37	c.147C>T																																																																																					0.642	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding					32	82	0	0	0	0.003755	0	32	82		
CHD3	1107	broad.mit.edu	37	17	7792337	7792337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7792337G>A	ENST00000330494.7	+	1	169	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	CHD3_ENST00000358181.4_Missense_Mutation_p.V7M|CHD3_ENST00000380358.4_Intron	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	7					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)				GGCAGACACTGTGATCCTGTG	0.458																																						uc002gje.2		NaN																	0				breast(1)	1						c.(19-21)GTG>ATG		chromodomain helicase DNA binding protein 3							162.0	165.0	164.0					17																	7792337		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.chr17:7792337G>A	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.19G>A	17.37:g.7792337G>A	ENSP00000332628:p.Val7Met					CHD3_uc002gjd.2_Intron|CHD3_uc002gjf.2_Missense_Mutation_p.V7M|CHD3_uc002gjg.1_5'Flank	p.V7M	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			1	169	+		Prostate(122;0.202)	7					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.19G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	g	12.43	1.936824	0.34189	.	.	ENSG00000170004	ENST00000358181;ENST00000330494	D;D	0.90069	-2.61;-2.61	3.7	-7.4	0.01397	.	.	.	.	.	T	0.73489	0.3593	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.60924	-0.7166	9	0.62326	D	0.03	.	8.6513	0.34035	0.207:0.2492:0.5439:0.0	.	7;7	Q12873-2;Q12873	.;CHD3_HUMAN	M	7	ENSP00000350907:V7M;ENSP00000332628:V7M	ENSP00000332628:V7M	V	+	1	0	CHD3	7733062	0.000000	0.05858	0.000000	0.03702	0.744000	0.42396	-1.265000	0.02844	-2.786000	0.00358	-0.273000	0.10243	GTG		0.458	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1		NM_001005273		50	17	0	0	0	0.01441	0	50	17		
MYH10	4628	broad.mit.edu	37	17	8508259	8508259	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:8508259C>A	ENST00000269243.4	-	3	525	c.387G>T	c.(385-387)aaG>aaT	p.K129N	MYH10_ENST00000360416.3_Missense_Mutation_p.K129N|MYH10_ENST00000396239.1_Missense_Mutation_p.K129N|MYH10_ENST00000379980.4_Missense_Mutation_p.K129N	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	129	Myosin motor.				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						TTGGAAGATTCTTGTAAGGGT	0.328																																						uc002gll.2		NaN																	0				ovary(2)	2						c.(385-387)AAG>AAT		myosin, heavy polypeptide 10, non-muscle							56.0	59.0	58.0					17																	8508259		2203	4297	6500	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.chr17:8508259C>A	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.387G>T	17.37:g.8508259C>A	ENSP00000269243:p.Lys129Asn					MYH10_uc002glm.2_Missense_Mutation_p.K129N|MYH10_uc010cnx.2_Missense_Mutation_p.K129N	p.K129N	NM_005964	NP_005955	P35580	MYH10_HUMAN			3	483	-			129			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.387G>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834383	0.71373	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980;ENST00000411957	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.09	5.09	0.68999	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.96040	0.8710	H	0.94423	3.535	0.58432	D	0.999993	D;P;D	0.63046	0.992;0.922;0.992	D;D;D	0.67900	0.954;0.954;0.954	D	0.97022	0.9744	10	0.87932	D	0	.	18.6797	0.91543	0.0:1.0:0.0:0.0	.	129;129;129	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	N	129	ENSP00000269243:K129N;ENSP00000353590:K129N;ENSP00000379539:K129N;ENSP00000369315:K129N;ENSP00000408220:K129N	ENSP00000269243:K129N	K	-	3	2	MYH10	8448984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.394000	0.44450	2.627000	0.88993	0.563000	0.77884	AAG		0.328	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2				17	65	1	0	9.16793e-09	0.00499	9.49614e-09	17	65		
PIK3R6	146850	broad.mit.edu	37	17	8725949	8725949	+	Silent	SNP	G	G	A	rs368801927		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:8725949G>A	ENST00000311434.9	-	16	1982	c.1743C>T	c.(1741-1743)ggC>ggT	p.G581G	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	581					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCTCAGCCACGCCTCTCCTCC	0.607																																						uc002glq.1		NaN																	0					0						c.(1741-1743)GGC>GGT		phosphoinositide-3-kinase, regulatory subunit 6		G		0,4016		0,0,2008	54.0	56.0	55.0		1743	-8.4	0.0	17		55	2,8350		0,2,4174	no	coding-synonymous	PIK3R6	NM_001010855.2		0,2,6182	AA,AG,GG		0.0239,0.0,0.0162		581/755	8725949	2,12366	2008	4176	6184	SO:0001819	synonymous_variant	146850				platelet activation	cytosol		g.chr17:8725949G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1743C>T	17.37:g.8725949G>A						PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	p.G581G	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN			16	1983	-			581					Q658R3	Silent	SNP	ENST00000311434.9	37	c.1743C>T																																																																																					0.607	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001010855		11	22	0	0	0	0.010729	0	11	22		
NTN1	9423	broad.mit.edu	37	17	9143161	9143161	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:9143161C>T	ENST00000173229.2	+	7	1798	c.1691C>T	c.(1690-1692)tCt>tTt	p.S564F	NTN1_ENST00000546090.1_Missense_Mutation_p.S564F|NTN1_ENST00000538852.1_Missense_Mutation_p.S564F	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	564	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GCGGAGGACTCTCCGGACCAG	0.637																																						uc002glw.3		NaN																	0					0						c.(1690-1692)TCT>TTT		netrin 1 precursor							37.0	34.0	35.0					17																	9143161		2202	4300	6502	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:9143161C>T	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1691C>T	17.37:g.9143161C>T	ENSP00000173229:p.Ser564Phe						p.S564F	NM_004822	NP_004813	O95631	NET1_HUMAN			7	1798	+			564			NTR.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.1691C>T	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633432	0.87660	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.33654	1.4;1.4;1.4	4.13	4.13	0.48395	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	M	0.76002	2.32	0.58432	D	0.999995	D	0.55385	0.971	P	0.62491	0.903	T	0.62840	-0.6769	10	0.51188	T	0.08	.	15.993	0.80220	0.0:1.0:0.0:0.0	.	564	O95631	NET1_HUMAN	F	564	ENSP00000173229:S564F;ENSP00000443259:S564F;ENSP00000441611:S564F	ENSP00000173229:S564F	S	+	2	0	NTN1	9083886	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	7.299000	0.78831	1.840000	0.53500	0.596000	0.82720	TCT		0.637	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1				7	3	0	0	0	0.00308	0	7	3		
NCOR1	9611	broad.mit.edu	37	17	15942956	15942956	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:15942956G>C	ENST00000268712.3	-	44	7003	c.6746C>G	c.(6745-6747)tCt>tGt	p.S2249C	AC002553.1_ENST00000442828.1_5'Flank|NCOR1_ENST00000395851.1_Missense_Mutation_p.S2146C|NCOR1_ENST00000395857.3_Missense_Mutation_p.S833C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2249	ID2. {ECO:0000250}.|Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGGCCTCTAGAGCTAACTGA	0.433																																						uc002gpo.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(6745-6747)TCT>TGT		nuclear receptor co-repressor 1							51.0	46.0	48.0					17																	15942956		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15942956G>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6746C>G	17.37:g.15942956G>C	ENSP00000268712:p.Ser2249Cys					NCOR1_uc002gpn.2_Missense_Mutation_p.S2146C|NCOR1_uc002gpl.2_Missense_Mutation_p.S264C|NCOR1_uc002gpm.2_Missense_Mutation_p.S769C|NCOR1_uc010vwb.1_Missense_Mutation_p.S833C|NCOR1_uc010coy.2_Missense_Mutation_p.S1157C	p.S2249C	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	44	6986	-			2249			Interaction with C1D (By similarity).|ID2 (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.6746C>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689506	0.48097	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.41065	1.04;1.61;1.01	5.69	5.69	0.88448	.	0.047667	0.85682	D	0.000000	T	0.54902	0.1887	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.993;0.998	D;D;D;P;D	0.85130	0.962;0.921;0.997;0.896;0.937	T	0.52049	-0.8627	10	0.44086	T	0.13	-8.7538	18.8093	0.92052	0.0:0.0:1.0:0.0	.	2153;2249;2146;769;263	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	C	2249;2146;2153;833	ENSP00000268712:S2249C;ENSP00000379192:S2146C;ENSP00000379198:S833C	ENSP00000268712:S2249C	S	-	2	0	NCOR1	15883681	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.589000	0.82641	2.687000	0.91594	0.655000	0.94253	TCT		0.433	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		7	12	0	0	0	0.001984	0	7	12		
ULK2	9706	broad.mit.edu	37	17	19708077	19708077	+	Missense_Mutation	SNP	C	C	A	rs138826045	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:19708077C>A	ENST00000395544.4	-	15	1723	c.1224G>T	c.(1222-1224)agG>agT	p.R408S	ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_Missense_Mutation_p.R408S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	408					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GCTGATAATTCCTTATTTGAG	0.408																																						uc002gwm.3		NaN																	0				skin(2)|large_intestine(1)|stomach(1)	4						c.(1222-1224)AGG>AGT		unc-51-like kinase 2							214.0	187.0	196.0					17																	19708077		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19708077C>A	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1224G>T	17.37:g.19708077C>A	ENSP00000378914:p.Arg408Ser					ULK2_uc002gwn.2_Missense_Mutation_p.R408S	p.R408S	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			15	1733	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		408					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.1224G>T	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939138	0.52972	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.67523	-0.27;-0.27	5.04	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	L	0.57536	1.79	0.47153	D	0.99933	P	0.43094	0.799	B	0.35931	0.214	T	0.57602	-0.7783	10	0.49607	T	0.09	-11.9525	10.3762	0.44083	0.0:0.8414:0.0:0.1586	.	408	Q8IYT8	ULK2_HUMAN	S	408	ENSP00000354877:R408S;ENSP00000378914:R408S	ENSP00000354877:R408S	R	-	3	2	ULK2	19648669	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.221000	0.17680	0.654000	0.30846	0.552000	0.68991	AGG		0.408	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2		NM_014683		36	20	1	0	2.91434e-09	0.004878	3.023e-09	36	20		
VTN	7448	broad.mit.edu	37	17	26696647	26696647	+	Nonsense_Mutation	SNP	G	G	C	rs377679842		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26696647G>C	ENST00000226218.4	-	3	1028	c.410C>G	c.(409-411)tCa>tGa	p.S137*	VTN_ENST00000536498.1_5'UTR|SARM1_ENST00000457710.3_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000438614.1_5'Flank|TMEM199_ENST00000509083.1_Intron|CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	137					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CTCAGGCCTTGAGTCTATCCC	0.612																																						uc002hbc.2		NaN																	0				ovary(1)|kidney(1)	2						c.(409-411)TCA>TGA		vitronectin precursor	Urokinase(DB00013)	G	stop/SER	1,4405	2.1+/-5.4	0,1,2202	35.0	35.0	35.0		410	-11.6	0.0	17		35	0,8600		0,0,4300	no	stop-gained	VTN	NM_000638.3		0,1,6502	CC,CG,GG		0.0,0.0227,0.0077		137/479	26696647	1,13005	2203	4300	6503	SO:0001587	stop_gained	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26696647G>C	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.410C>G	17.37:g.26696647G>C	ENSP00000226218:p.Ser137*					SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	p.S137*	NM_000638	NP_000629	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	559	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		137					B2R7G0|P01141|Q9BSH7	Nonsense_Mutation	SNP	ENST00000226218.4	37	c.410C>G	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	G	34	5.366331	0.95900	2.27E-4	0.0	ENSG00000255604	ENST00000226218	.	.	.	5.8	-11.6	0.00059	.	1.743750	0.02873	N	0.131946	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	9.314	4.4583	0.11654	0.1354:0.167:0.5309:0.1667	.	.	.	.	X	137	.	ENSP00000226218:S137X	S	-	2	0	AC002094.1	23720774	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.974000	0.03794	-2.104000	0.00843	-0.140000	0.14226	TCA		0.612	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2		NM_000638		10	37	0	0	0	0.008291	0	10	37		
KIAA0100	9703	broad.mit.edu	37	17	26965042	26965042	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26965042C>G	ENST00000528896.2	-	14	1657	c.1583G>C	c.(1582-1584)cGa>cCa	p.R528P	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R385P|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R385P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	528						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGAAGTCCTCGAATGGTACA	0.502																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(1582-1584)CGA>CCA		hypothetical protein LOC9703 precursor							73.0	68.0	70.0					17																	26965042		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26965042C>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1583G>C	17.37:g.26965042C>G	ENSP00000436773:p.Arg528Pro						p.R528P	NM_014680	NP_055495	Q14667	K0100_HUMAN			14	1682	-	Lung NSC(42;0.00431)		528					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1583G>C	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080365	0.76528	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.23754	1.89;1.89	5.95	5.95	0.96441	FMP27, N-terminal (1);	0.121243	0.56097	D	0.000028	T	0.31638	0.0803	N	0.24115	0.695	0.40626	D	0.981811	D	0.65815	0.995	P	0.60789	0.879	T	0.02184	-1.1199	10	0.26408	T	0.33	.	13.5625	0.61797	0.0:0.9292:0.0:0.0708	.	528	Q14667	K0100_HUMAN	P	528;528;528;385	ENSP00000436773:R528P;ENSP00000446443:R385P	ENSP00000005905:R528P	R	-	2	0	KIAA0100	23989169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.044000	0.49830	2.826000	0.97356	0.563000	0.77884	CGA		0.502	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		22	31	0	0	0	0.014323	0	22	31		
KIAA0100	9703	broad.mit.edu	37	17	26967622	26967622	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26967622C>T	ENST00000528896.2	-	8	920	c.846G>A	c.(844-846)aaG>aaA	p.K282K	KIAA0100_ENST00000389003.3_Silent_p.K139K|KIAA0100_ENST00000544884.1_Silent_p.K139K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	282						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGTTCTCCATCTTAACCTTGA	0.463																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(844-846)AAG>AAA		hypothetical protein LOC9703 precursor							162.0	148.0	153.0					17																	26967622		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26967622C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.846G>A	17.37:g.26967622C>T						KIAA0100_uc002hbv.2_Silent_p.K282K|KIAA0100_uc010crr.1_Silent_p.K139K	p.K282K	NM_014680	NP_055495	Q14667	K0100_HUMAN			8	945	-	Lung NSC(42;0.00431)		282					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.846G>A	CCDS32595.1																																																																																				0.463	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		33	74	0	0	0	0.004878	0	33	74		
KIAA0100	9703	broad.mit.edu	37	17	26967681	26967681	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26967681C>T	ENST00000528896.2	-	8	861	c.787G>A	c.(787-789)Gag>Aag	p.E263K	KIAA0100_ENST00000389003.3_Missense_Mutation_p.E120K|KIAA0100_ENST00000544884.1_Missense_Mutation_p.E120K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	263						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGAGTTGGCTCAACTAAGTTT	0.448																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(787-789)GAG>AAG		hypothetical protein LOC9703 precursor							106.0	103.0	104.0					17																	26967681		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26967681C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.787G>A	17.37:g.26967681C>T	ENSP00000436773:p.Glu263Lys					KIAA0100_uc002hbv.2_Missense_Mutation_p.E263K|KIAA0100_uc010crr.1_Missense_Mutation_p.E120K	p.E263K	NM_014680	NP_055495	Q14667	K0100_HUMAN			8	886	-	Lung NSC(42;0.00431)		263					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.787G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253857	0.59212	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.23552	1.9;1.91	5.84	5.84	0.93424	FMP27, N-terminal (1);	0.385633	0.29321	N	0.012493	T	0.25644	0.0624	N	0.24115	0.695	0.34982	D	0.754195	D;P;B	0.56287	0.975;0.949;0.292	P;P;B	0.52386	0.697;0.51;0.22	T	0.09487	-1.0672	10	0.14656	T	0.56	.	13.8287	0.63366	0.1531:0.8469:0.0:0.0	.	120;263;263	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	K	263;263;263;120	ENSP00000436773:E263K;ENSP00000446443:E120K	ENSP00000005905:E263K	E	-	1	0	KIAA0100	23991808	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.146000	0.64845	2.764000	0.94973	0.655000	0.94253	GAG		0.448	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		25	43	0	0	0	0.00278	0	25	43		
KIAA0100	9703	broad.mit.edu	37	17	26967693	26967693	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26967693C>T	ENST00000528896.2	-	8	849	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	KIAA0100_ENST00000389003.3_Missense_Mutation_p.E116K|KIAA0100_ENST00000544884.1_Missense_Mutation_p.E116K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	259						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACTAAGTTTTCTGTCACCTCT	0.463																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(775-777)GAA>AAA		hypothetical protein LOC9703 precursor							97.0	94.0	95.0					17																	26967693		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26967693C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.775G>A	17.37:g.26967693C>T	ENSP00000436773:p.Glu259Lys					KIAA0100_uc002hbv.2_Missense_Mutation_p.E259K|KIAA0100_uc010crr.1_Missense_Mutation_p.E116K	p.E259K	NM_014680	NP_055495	Q14667	K0100_HUMAN			8	874	-	Lung NSC(42;0.00431)		259					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.775G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366192	0.61513	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.23950	1.93;1.88	5.84	4.87	0.63330	FMP27, N-terminal (1);	0.341559	0.34828	N	0.003648	T	0.21801	0.0525	L	0.32530	0.975	0.36369	D	0.861197	B;B;B	0.24043	0.096;0.004;0.0	B;B;B	0.25614	0.062;0.011;0.002	T	0.12372	-1.0550	10	0.39692	T	0.17	4.7426	13.8828	0.63691	0.0:0.9258:0.0:0.0742	.	116;259;259	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	K	259;259;259;116	ENSP00000436773:E259K;ENSP00000446443:E116K	ENSP00000005905:E259K	E	-	1	0	KIAA0100	23991820	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	2.827000	0.48112	1.475000	0.48197	0.655000	0.94253	GAA		0.463	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		23	36	0	0	0	0.014323	0	23	36		
TRAF4	9618	broad.mit.edu	37	17	27075418	27075418	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:27075418G>A	ENST00000262395.5	+	5	730	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TRAF4_ENST00000262396.6_Intron|AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000444415.3_Missense_Mutation_p.E201K	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	201					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CTGCACTAAGGAGTTCGTCTT	0.572																																						uc002hcs.2		NaN																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(601-603)GAG>AAG		TNF receptor-associated factor 4							77.0	59.0	65.0					17																	27075418		2203	4300	6503	SO:0001583	missense	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27075418G>A	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.601G>A	17.37:g.27075418G>A	ENSP00000262395:p.Glu201Lys					TRAF4_uc002hcq.1_Intron	p.E201K	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		5	709	+	Lung NSC(42;0.01)		201			TRAF-type 2.		O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	c.601G>A	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282822	0.80692	.	.	ENSG00000076604	ENST00000262395;ENST00000444415	T;T	0.23147	1.92;1.92	5.67	4.7	0.59300	Zinc finger, TRAF-type (1);TRAF-like (1);	0.047585	0.85682	N	0.000000	T	0.32224	0.0822	M	0.66506	2.035	0.80722	D	1	P	0.44195	0.828	B	0.43950	0.437	T	0.07065	-1.0792	10	0.35671	T	0.21	.	13.2282	0.59927	0.077:0.0:0.923:0.0	.	201	Q9BUZ4	TRAF4_HUMAN	K	201	ENSP00000262395:E201K;ENSP00000438154:E201K	ENSP00000262395:E201K	E	+	1	0	TRAF4	24099545	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.007000	0.70731	1.398000	0.46701	0.561000	0.74099	GAG		0.572	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2		NM_145751		16	19	0	0	0	0.00499	0	16	19		
TRAF4	9618	broad.mit.edu	37	17	27076569	27076569	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:27076569G>A	ENST00000262395.5	+	7	1516	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	TRAF4_ENST00000262396.6_Missense_Mutation_p.E188K|AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000444415.3_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	463					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TGCTGCTGTTGAACTGCCCCG	0.557																																						uc002hcs.2		NaN																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(1387-1389)GAA>AAA		TNF receptor-associated factor 4							83.0	73.0	76.0					17																	27076569		2203	4300	6503	SO:0001583	missense	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27076569G>A	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1387G>A	17.37:g.27076569G>A	ENSP00000262395:p.Glu463Lys					TRAF4_uc002hcq.1_Missense_Mutation_p.E188K	p.E463K	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		7	1495	+	Lung NSC(42;0.01)		463					O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	c.1387G>A	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026631	0.93518	.	.	ENSG00000076604	ENST00000262395;ENST00000454852;ENST00000262396;ENST00000394924;ENST00000394925	T;T	0.37915	1.17;1.55	6.11	6.11	0.99139	TRAF-type (1);TRAF-like (1);MATH (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	L	0.52126	1.63	0.39388	D	0.966379	D;D	0.69078	0.997;0.996	D;D	0.79108	0.992;0.987	T	0.56475	-0.7973	10	0.72032	D	0.01	.	19.7224	0.96148	0.0:0.0:1.0:0.0	.	463;191	Q9BUZ4;Q9BUZ4-2	TRAF4_HUMAN;.	K	463;191;188;160;137	ENSP00000262395:E463K;ENSP00000262396:E188K	ENSP00000262395:E463K	E	+	1	0	TRAF4	24100696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.204000	0.95041	2.906000	0.99361	0.655000	0.94253	GAA		0.557	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2		NM_145751		22	52	0	0	0	0.00333	0	22	52		
MYO18A	399687	broad.mit.edu	37	17	27438549	27438549	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:27438549G>A	ENST00000527372.1	-	17	2973	c.2793C>T	c.(2791-2793)caC>caT	p.H931H	MYO18A_ENST00000531253.1_Silent_p.H931H|MYO18A_ENST00000533112.1_Silent_p.H931H|MYO18A_ENST00000354329.4_Silent_p.H931H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	931	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGCCATGGCTGTGGCCCAGGA	0.572											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NaN																	0					0						c.(2791-2793)CAC>CAT		myosin 18A isoform a							124.0	130.0	128.0					17																	27438549		2059	4201	6260	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27438549G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2793C>T	17.37:g.27438549G>A			OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	794	MYO18A_uc010wbc.1_Silent_p.H473H|MYO18A_uc002hds.2_Silent_p.H473H|MYO18A_uc010csa.1_Silent_p.H931H|MYO18A_uc002hdu.1_Silent_p.H931H|MYO18A_uc010wbd.1_Silent_p.H600H	p.H931H	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		17	2951	-			931			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.2793C>T	CCDS45642.1																																																																																				0.572	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471		7	29	0	0	0	0.00308	0	7	29		
BLMH	642	broad.mit.edu	37	17	28598396	28598396	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:28598396C>T	ENST00000261714.6	-	10	1213	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	BLMH_ENST00000582669.1_5'Flank|BLMH_ENST00000394819.3_Missense_Mutation_p.E260K	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	347					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	AACACTAACTCATGGTCATAG	0.413																																					Pancreas(127;628 1772 12912 33293 36203)	uc002hez.1		NaN																	0				ovary(1)	1						c.(1039-1041)GAG>AAG		bleomycin hydrolase							102.0	94.0	96.0					17																	28598396		2203	4300	6503	SO:0001583	missense	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28598396C>T	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.1039G>A	17.37:g.28598396C>T	ENSP00000261714:p.Glu347Lys					BLMH_uc010wbn.1_Missense_Mutation_p.E260K	p.E347K	NM_000386	NP_000377	Q13867	BLMH_HUMAN			10	1276	-			347					B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	c.1039G>A	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484327	0.63962	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.41065	1.01;1.01	5.4	5.4	0.78164	.	0.046101	0.85682	D	0.000000	T	0.42877	0.1222	L	0.52364	1.645	0.58432	D	0.999999	B;B	0.18310	0.027;0.027	B;B	0.26416	0.069;0.042	T	0.21724	-1.0237	10	0.33940	T	0.23	-20.2032	18.1777	0.89767	0.0:1.0:0.0:0.0	.	260;347	E7EMN3;Q13867	.;BLMH_HUMAN	K	347;260	ENSP00000261714:E347K;ENSP00000378296:E260K	ENSP00000261714:E347K	E	-	1	0	BLMH	25622522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.517000	0.84864	0.591000	0.81541	GAG		0.413	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1		NM_000386		27	54	0	0	0	0.005443	0	27	54		
BLMH	642	broad.mit.edu	37	17	28601152	28601152	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:28601152C>T	ENST00000261714.6	-	7	883	c.709G>A	c.(709-711)Gac>Aac	p.D237N	BLMH_ENST00000582669.1_5'UTR|BLMH_ENST00000394819.3_Missense_Mutation_p.D150N	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	237					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	TTATCTTTGTCTCGATATTCC	0.438																																					Pancreas(127;628 1772 12912 33293 36203)	uc002hez.1		NaN																	0				ovary(1)	1						c.(709-711)GAC>AAC		bleomycin hydrolase							88.0	85.0	86.0					17																	28601152		2203	4300	6503	SO:0001583	missense	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28601152C>T	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.709G>A	17.37:g.28601152C>T	ENSP00000261714:p.Asp237Asn					BLMH_uc010wbn.1_Missense_Mutation_p.D150N	p.D237N	NM_000386	NP_000377	Q13867	BLMH_HUMAN			7	946	-			237					B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	c.709G>A	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493071	0.96339	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.55760	0.5;0.5	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73125	0.3547	M	0.77313	2.365	0.80722	D	1	D;D	0.63046	0.992;0.959	D;D	0.64321	0.924;0.924	T	0.73272	-0.4035	10	0.52906	T	0.07	-23.0677	19.2865	0.94077	0.0:1.0:0.0:0.0	.	150;237	E7EMN3;Q13867	.;BLMH_HUMAN	N	237;150	ENSP00000261714:D237N;ENSP00000378296:D150N	ENSP00000261714:D237N	D	-	1	0	BLMH	25625278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.469000	0.80959	2.802000	0.96397	0.655000	0.94253	GAC		0.438	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1		NM_000386		23	76	0	0	0	0.00278	0	23	76		
CPD	1362	broad.mit.edu	37	17	28770948	28770948	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:28770948C>T	ENST00000225719.4	+	11	2578	c.2502C>T	c.(2500-2502)ctC>ctT	p.L834L	CPD_ENST00000543464.2_Silent_p.L587L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	834	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ACTGGCGTCTCTTGGTTCCAG	0.448																																						uc002hfb.1		NaN																	0				liver(1)|skin(1)	2						c.(2500-2502)CTC>CTT		carboxypeptidase D precursor							167.0	166.0	167.0					17																	28770948		2203	4300	6503	SO:0001819	synonymous_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28770948C>T	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2502C>T	17.37:g.28770948C>T						CPD_uc010wbo.1_Silent_p.L587L|CPD_uc010wbp.1_RNA	p.L834L	NM_001304	NP_001295	O75976	CBPD_HUMAN			11	2517	+			834			Extracellular (Potential).|Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	c.2502C>T	CCDS11257.1																																																																																				0.448	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3		NM_001304		45	182	0	0	0	0.013114	0	45	182		
SUZ12	23512	broad.mit.edu	37	17	30302704	30302704	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:30302704G>A	ENST00000322652.5	+	7	1024	c.795G>A	c.(793-795)atG>atA	p.M265I	SUZ12_ENST00000580398.1_Missense_Mutation_p.M242I	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	265					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TTAATGGAATGATTAATGGAG	0.333			T	JAZF1	endometrial stromal tumours																																	uc002hgs.2		NaN		Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	JAZF1/SUZ12(131)	0				soft_tissue(98)|endometrium(33)	131						c.(793-795)ATG>ATA		joined to JAZF1							50.0	50.0	50.0					17																	30302704		2203	4300	6503	SO:0001583	missense	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30302704G>A	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.795G>A	17.37:g.30302704G>A	ENSP00000316578:p.Met265Ile					SUZ12_uc002hgt.2_Missense_Mutation_p.M242I	p.M265I	NM_015355	NP_056170	Q15022	SUZ12_HUMAN			7	1017	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	265					Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	c.795G>A	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645456	0.29246	.	.	ENSG00000178691	ENST00000322652	T	0.40756	1.02	5.32	5.32	0.75619	.	0.108387	0.64402	D	0.000005	T	0.28732	0.0712	N	0.22421	0.69	0.31116	N	0.70937	B;B	0.16396	0.017;0.002	B;B	0.12156	0.007;0.001	T	0.17319	-1.0373	10	0.25106	T	0.35	-9.2253	12.3665	0.55232	0.0776:0.0:0.9224:0.0	.	265;265	A8K1U9;Q15022	.;SUZ12_HUMAN	I	265	ENSP00000316578:M265I	ENSP00000316578:M265I	M	+	3	0	SUZ12	27326817	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.895000	0.48648	2.465000	0.83290	0.508000	0.49915	ATG		0.333	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2		NM_015355		15	68	0	0	0	0.00499	0	15	68		
ZNF830	91603	broad.mit.edu	37	17	33288630	33288630	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:33288630G>A	ENST00000361952.3	+	1	82	c.45G>A	c.(43-45)gtG>gtA	p.V15V	CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000421975.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	15					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GGAAGCGAGTGATAAATCAGG	0.557																																						uc002hih.3		NaN																	0				breast(1)	1						c.(43-45)GTG>GTA		coiled-coil domain containing 16							81.0	88.0	85.0					17																	33288630		2203	4300	6503	SO:0001819	synonymous_variant	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33288630G>A	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.45G>A	17.37:g.33288630G>A						CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	p.V15V	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN			1	82	+		Ovarian(249;0.17)	15					Q96F60|Q96GZ5|Q9BU38	Silent	SNP	ENST00000361952.3	37	c.45G>A	CCDS32618.1																																																																																				0.557	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1		NM_052857		26	64	0	0	0	0.003271	0	26	64		
SLFN11	91607	broad.mit.edu	37	17	33690544	33690544	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:33690544C>T	ENST00000394566.1	-	4	555	c.283G>A	c.(283-285)Gag>Aag	p.E95K	SLFN11_ENST00000308377.4_Missense_Mutation_p.E95K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	95					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCTTGGTCTCAAAGAAAGCC	0.473																																						uc010ctp.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(283-285)GAG>AAG		schlafen family member 11							96.0	91.0	93.0					17																	33690544		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33690544C>T	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.283G>A	17.37:g.33690544C>T	ENSP00000378067:p.Glu95Lys					SLFN11_uc010ctq.2_Missense_Mutation_p.E95K|SLFN11_uc002hjh.3_Missense_Mutation_p.E95K|SLFN11_uc002hjg.3_Missense_Mutation_p.E95K|SLFN11_uc010ctr.2_Missense_Mutation_p.E95K	p.E95K	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	725	-		Ovarian(249;0.17)	95					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.283G>A	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791639	0.31685	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.02280	4.36;4.36	4.0	0.79	0.18613	.	0.000000	0.37178	N	0.002204	T	0.02193	0.0068	L	0.46157	1.445	0.09310	N	1	B	0.25850	0.136	B	0.21708	0.036	T	0.42015	-0.9476	10	0.62326	D	0.03	.	4.0633	0.09849	0.0:0.5838:0.1944:0.2218	.	95	Q7Z7L1	SLN11_HUMAN	K	95	ENSP00000312402:E95K;ENSP00000378067:E95K	ENSP00000312402:E95K	E	-	1	0	SLFN11	30714657	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	1.208000	0.32345	0.032000	0.15435	-0.136000	0.14681	GAG		0.473	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1		NM_152270		56	60	0	0	0	0.01441	0	56	60		
LYZL6	57151	broad.mit.edu	37	17	34264799	34264799	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:34264799C>G	ENST00000585556.1	-	3	595	c.261G>C	c.(259-261)aaG>aaC	p.K87N	LYZL6_ENST00000293274.4_Missense_Mutation_p.K87N|LYZL6_ENST00000394523.3_Missense_Mutation_p.K87N|LYZL6_ENST00000492340.2_5'UTR			O75951	LYZL6_HUMAN	lysozyme-like 6	87					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGAGTAACTCTTATAATCGT	0.473																																						uc002hkj.1		NaN																	0					0						c.(259-261)AAG>AAC		lysozyme-like 6 precursor							113.0	106.0	108.0					17																	34264799		2203	4300	6503	SO:0001583	missense	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34264799C>G	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.261G>C	17.37:g.34264799C>G	ENSP00000468094:p.Lys87Asn					LYZL6_uc002hkk.1_Missense_Mutation_p.K87N	p.K87N	NM_020426	NP_065159	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	411	-			87					Q6UW30	Missense_Mutation	SNP	ENST00000585556.1	37	c.261G>C	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	C	4.858	0.159515	0.09236	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.42131	0.98;0.98	4.8	-1.48	0.08745	Lysozyme-like domain (1);	2.470240	0.01420	N	0.014336	T	0.34279	0.0892	L	0.38733	1.17	0.09310	N	1	B	0.14012	0.009	B	0.20384	0.029	T	0.30880	-0.9963	10	0.48119	T	0.1	-3.3914	6.3558	0.21400	0.0:0.3069:0.5028:0.1903	.	87	O75951	LYZL6_HUMAN	N	87	ENSP00000293274:K87N;ENSP00000378031:K87N	ENSP00000293274:K87N	K	-	3	2	LYZL6	31288912	0.237000	0.23815	0.000000	0.03702	0.017000	0.09413	0.361000	0.20267	0.003000	0.14656	0.655000	0.94253	AAG		0.473	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2		NM_020426		23	40	0	0	0	0.003755	0	23	40		
LHX1	3975	broad.mit.edu	37	17	35297719	35297719	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:35297719C>T	ENST00000254457.5	+	2	1714	c.303C>T	c.(301-303)ggC>ggT	p.G101G	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	101	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TCTCCACTGGCGAGGAACTCT	0.522																																						uc002hnh.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(301-303)GGC>GGT		LIM homeobox protein 1							90.0	76.0	81.0					17																	35297719		2203	4300	6503	SO:0001819	synonymous_variant	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35297719C>T	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.303C>T	17.37:g.35297719C>T						LHX1_uc010cux.1_Silent_p.G9G	p.G101G	NM_005568	NP_005559	P48742	LHX1_HUMAN			2	1299	+		Breast(25;0.00607)	101			LIM zinc-binding 2.		Q3MIW0	Silent	SNP	ENST00000254457.5	37	c.303C>T	CCDS11316.1																																																																																				0.522	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3		NM_005568		6	18	0	0	0	0.001984	0	6	18		
ACACA	31	broad.mit.edu	37	17	35545234	35545234	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:35545234C>T	ENST00000394406.2	-	39	4838	c.4648G>A	c.(4648-4650)Gac>Aac	p.D1550N	ACACA_ENST00000353139.5_Missense_Mutation_p.D1587N|ACACA_ENST00000335166.5_Missense_Mutation_p.D1472N|ACACA_ENST00000360679.3_Missense_Mutation_p.D1492N	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1550					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTCCTGGAGTCAGTCACTTCC	0.468																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(4648-4650)GAC>AAC		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						144.0	127.0	133.0					17																	35545234		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35545234C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4648G>A	17.37:g.35545234C>T	ENSP00000377928:p.Asp1550Asn					ACACA_uc002hnk.2_Missense_Mutation_p.D1472N|ACACA_uc002hnl.2_Missense_Mutation_p.D1492N|ACACA_uc002hnn.2_Missense_Mutation_p.D1550N|ACACA_uc002hno.2_Missense_Mutation_p.D1587N|ACACA_uc010cuy.2_Missense_Mutation_p.D244N	p.D1550N	NM_198836	NP_942133	Q13085	ACACA_HUMAN			39	4839	-		Breast(25;0.00157)|Ovarian(249;0.15)	1550					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4648G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493756	0.44352	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.49	5.49	0.81192	Acetyl-CoA carboxylase, central domain (1);	0.047508	0.85682	D	0.000000	T	0.43456	0.1248	L	0.53561	1.675	0.80722	D	1	B;B;B;B	0.19073	0.033;0.023;0.006;0.005	B;B;B;B	0.26770	0.072;0.073;0.019;0.007	T	0.25222	-1.0138	10	0.22706	T	0.39	-20.6569	18.9743	0.92730	0.0:1.0:0.0:0.0	.	298;1587;1550;1492	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	N	1587;1492;1550;1574;1472;298	ENSP00000344789:D1587N;ENSP00000353898:D1492N;ENSP00000377928:D1550N;ENSP00000335323:D1472N	ENSP00000335323:D1472N	D	-	1	0	ACACA	32619347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.036000	0.70948	2.559000	0.86315	0.655000	0.94253	GAC		0.468	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		26	29	0	0	0	0.005443	0	26	29		
MRPL45	84311	broad.mit.edu	37	17	36476600	36476600	+	Missense_Mutation	SNP	G	G	A	rs549274705		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:36476600G>A	ENST00000312513.5	+	6	770	c.609G>A	c.(607-609)atG>atA	p.M203I		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	203						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAAGTATGATGAACCAGGGCA	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21739	0.0		0.0	False		,,,				2504	0.0					uc002hpy.2		NaN																	0					0						c.(607-609)ATG>ATA		mitochondrial ribosomal protein L45 precursor							212.0	189.0	197.0					17																	36476600		2203	4300	6503	SO:0001583	missense	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36476600G>A	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.609G>A	17.37:g.36476600G>A	ENSP00000308901:p.Met203Ile						p.M203I	NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN			6	761	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	203					A1L436|Q6ZMJ5	Missense_Mutation	SNP	ENST00000312513.5	37	c.609G>A	CCDS11326.1	.	.	.	.	.	.	.	.	.	.	G	9.973	1.225905	0.22542	.	.	ENSG00000174100	ENST00000312513	T	0.75938	-0.98	5.53	3.43	0.39272	.	0.399505	0.27198	N	0.020479	T	0.32704	0.0838	N	0.00321	-1.65	0.29308	N	0.868219	B	0.02656	0.0	B	0.06405	0.002	T	0.41034	-0.9531	10	0.02654	T	1	-0.059	8.9761	0.35937	0.0764:0.2714:0.6523:0.0	.	203	Q9BRJ2	RM45_HUMAN	I	203	ENSP00000308901:M203I	ENSP00000308901:M203I	M	+	3	0	MRPL45	33730127	1.000000	0.71417	0.913000	0.36048	0.365000	0.29674	2.331000	0.43894	1.333000	0.45449	0.455000	0.32223	ATG		0.507	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3		NM_032351		110	114	0	0	0	0.01441	0	110	114		
GPR179	440435	broad.mit.edu	37	17	36486038	36486038	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:36486038C>T	ENST00000342292.4	-	11	3434	c.3414G>A	c.(3412-3414)gtG>gtA	p.V1138V	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1138					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGCTTACTCACCGCCTTGG	0.632																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(3412-3414)GTG>GTA		GPR158-like 1 precursor							98.0	102.0	101.0					17																	36486038		2048	4197	6245	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486038C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3414G>A	17.37:g.36486038C>T							p.V1138V	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	3435	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1138			Cytoplasmic (Potential).			Silent	SNP	ENST00000342292.4	37	c.3414G>A	CCDS42308.1																																																																																				0.632	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				35	42	0	0	0	0.003271	0	35	42		
MED1	5469	broad.mit.edu	37	17	37576107	37576107	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:37576107C>G	ENST00000394287.3	-	14	1365	c.1160G>C	c.(1159-1161)aGt>aCt	p.S387T	MED1_ENST00000300651.6_Missense_Mutation_p.S387T			O95243	MBD4_HUMAN	mediator complex subunit 1	0				S -> L (in Ref. 6; BAG64144). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCCCTGTAGACTTCGGCCATC	0.483										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NaN																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(1159-1161)AGT>ACT		mediator complex subunit 1							117.0	112.0	114.0					17																	37576107		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37576107C>G	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1160G>C	17.37:g.37576107C>G	ENSP00000377828:p.Ser387Thr	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.S215T|MED1_uc002hru.2_Missense_Mutation_p.S387T	p.S387T	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	14	1372	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	387			Interaction with ESR1.|Interaction with the Mediator complex.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000394287.3	37	c.1160G>C		.	.	.	.	.	.	.	.	.	.	C	22.9	4.349754	0.82132	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.33865	1.39	5.78	5.78	0.91487	Mediator complex, subunit Med1, metazoa/fungi (1);	.	.	.	.	T	0.50650	0.1628	M	0.61703	1.905	0.44728	D	0.997721	P;P	0.52170	0.951;0.729	P;B	0.54759	0.76;0.288	T	0.42344	-0.9457	9	0.42905	T	0.14	-7.6623	15.4918	0.75611	0.0:0.8622:0.1378:0.0	.	387;387	Q15648;Q15648-3	MED1_HUMAN;.	T	387	ENSP00000300651:S387T	ENSP00000300651:S387T	S	-	2	0	MED1	34829633	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.818000	0.55678	2.731000	0.93534	0.585000	0.79938	AGT		0.483	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1		NM_004774		23	68	0	0	0	0.012319	0	23	68		
WIPF2	147179	broad.mit.edu	37	17	38421182	38421182	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:38421182C>A	ENST00000323571.4	+	5	994	c.754C>A	c.(754-756)Cct>Act	p.P252T	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P252T|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.P252T|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	252	Poly-Pro.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GGCTCCTCCTCCTCCGCCTTA	0.597										HNSCC(43;0.11)																												uc002hug.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(754-756)CCT>ACT		WIRE protein							157.0	147.0	150.0					17																	38421182		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38421182C>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.754C>A	17.37:g.38421182C>A	ENSP00000320924:p.Pro252Thr	HNSCC(43;0.11)				WIPF2_uc002huh.1_Missense_Mutation_p.P102T|WIPF2_uc010cww.1_Missense_Mutation_p.P102T|WIPF2_uc002hui.1_Missense_Mutation_p.P252T|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.P252T	p.P252T	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN			5	994	+			252			Poly-Pro.		A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.754C>A	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511695	0.85389	.	.	ENSG00000171475	ENST00000323571	T	0.38887	1.11	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67803	-0.5576	10	0.72032	D	0.01	-7.1757	19.4683	0.94952	0.0:1.0:0.0:0.0	.	252	Q8TF74	WIPF2_HUMAN	T	252	ENSP00000320924:P252T	ENSP00000320924:P252T	P	+	1	0	WIPF2	35674708	1.000000	0.71417	0.948000	0.38648	0.981000	0.71138	6.772000	0.75001	2.698000	0.92095	0.456000	0.33151	CCT		0.597	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2		NM_133264		44	112	1	0	5.34276e-22	0.01441	5.6555e-22	44	112		
KRT25	147183	broad.mit.edu	37	17	38910644	38910644	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:38910644C>G	ENST00000312150.4	-	2	566	c.506G>C	c.(505-507)aGa>aCa	p.R169T		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTACTTGAGTCTGAAATCATC	0.378																																						uc002hve.2		NaN																	0				ovary(2)	2						c.(505-507)AGA>ACA		keratin 25							114.0	108.0	110.0					17																	38910644		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910644C>G	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.506G>C	17.37:g.38910644C>G	ENSP00000310573:p.Arg169Thr						p.R169T	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			2	567	-		Breast(137;0.00526)	169			Rod.|Coil 1B.			Missense_Mutation	SNP	ENST00000312150.4	37	c.506G>C	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731694	0.69189	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.91068	-2.78	5.73	5.73	0.89815	Filament (1);	0.082993	0.52532	D	0.000074	D	0.95947	0.8680	M	0.93763	3.455	0.31913	N	0.614403	D	0.76494	0.999	D	0.76071	0.987	D	0.96083	0.9055	10	0.87932	D	0	.	9.6786	0.40056	0.0:0.8078:0.0:0.1922	.	169	Q7Z3Z0	K1C25_HUMAN	T	169	ENSP00000310573:R169T	ENSP00000310573:R169T	R	-	2	0	KRT25	36164170	0.011000	0.17503	1.000000	0.80357	0.990000	0.78478	0.133000	0.15912	2.702000	0.92279	0.655000	0.94253	AGA		0.378	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1		NM_181534		23	54	0	0	0	0.003954	0	23	54		
KRT39	390792	broad.mit.edu	37	17	39116576	39116576	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39116576C>G	ENST00000355612.2	-	6	1209	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	392	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GTGGTAATCTCACATTCCAGC	0.468																																						uc002hvo.1		NaN																	0					0						c.(1174-1176)GAG>CAG		type I hair keratin KA35							138.0	120.0	126.0					17																	39116576		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39116576C>G	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1174G>C	17.37:g.39116576C>G	ENSP00000347823:p.Glu392Gln					KRT39_uc010wfm.1_Missense_Mutation_p.E125Q	p.E392Q	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			6	1210	-		Breast(137;0.00043)|Ovarian(249;0.15)	392			Coil 2.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.1174G>C	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	32	5.131796	0.94473	.	.	ENSG00000196859	ENST00000355612	D	0.96774	-4.12	5.7	5.7	0.88788	Filament (1);	0.000000	0.43579	D	0.000553	D	0.99099	0.9690	H	0.98721	4.31	0.50171	D	0.999855	D	0.89917	1.0	D	0.97110	1.0	D	0.98917	1.0782	10	0.87932	D	0	.	19.8361	0.96658	0.0:1.0:0.0:0.0	.	392	Q6A163	K1C39_HUMAN	Q	392	ENSP00000347823:E392Q	ENSP00000347823:E392Q	E	-	1	0	KRT39	36370102	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.434000	0.80377	2.692000	0.91855	0.655000	0.94253	GAG		0.468	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1		NM_213656		37	90	0	0	0	0.005524	0	37	90		
KRT40	125115	broad.mit.edu	37	17	39137159	39137159	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39137159C>G	ENST00000398486.2	-	7	1013	c.853G>C	c.(853-855)Gaa>Caa	p.E285Q	KRT40_ENST00000377755.4_Missense_Mutation_p.E285Q	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	285	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TTCAGCTCTTCTGTCTGAAAC	0.483																																						uc010cxh.1		NaN																	0					0						c.(853-855)GAA>CAA		type I hair keratin KA36							97.0	99.0	99.0					17																	39137159		1952	4171	6123	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39137159C>G	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.853G>C	17.37:g.39137159C>G	ENSP00000381500:p.Glu285Gln					KRT40_uc002hvq.1_RNA	p.E285Q	NM_182497	NP_872303	Q6A162	K1C40_HUMAN			7	1014	-		Breast(137;0.00043)	285			Rod.|Coil 2.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.853G>C	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119043	0.77323	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.90069	-2.61;-2.61	5.4	5.4	0.78164	Filament (1);	0.000000	0.34362	N	0.004026	D	0.94298	0.8168	M	0.81682	2.555	0.39461	D	0.96756	D	0.60575	0.988	D	0.63877	0.919	D	0.95051	0.8187	10	0.72032	D	0.01	.	18.5374	0.91015	0.0:1.0:0.0:0.0	.	285	Q6A162	K1C40_HUMAN	Q	285	ENSP00000366984:E285Q;ENSP00000381500:E285Q	ENSP00000366984:E285Q	E	-	1	0	KRT40	36390685	0.921000	0.31238	0.999000	0.59377	0.946000	0.59487	4.463000	0.60128	2.688000	0.91661	0.655000	0.94253	GAA		0.483	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3		NM_182497		69	98	0	0	0	0.01441	0	69	98		
KRTAP1-5	83895	broad.mit.edu	37	17	39183285	39183285	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39183285C>T	ENST00000361883.5	-	1	169	c.123G>A	c.(121-123)caG>caA	p.Q41Q		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	41	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			AGAAGCTAGTCTGGCAGCTGC	0.607																																						uc002hvu.2		NaN																	0					0						c.(121-123)CAG>CAA		keratin associated protein 1.5							46.0	52.0	50.0					17																	39183285		1993	4194	6187	SO:0001819	synonymous_variant	83895					keratin filament		g.chr17:39183285C>T	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.123G>A	17.37:g.39183285C>T							p.Q41Q	NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	170	-		Breast(137;0.00043)	41			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Silent	SNP	ENST00000361883.5	37	c.123G>A	CCDS42321.1																																																																																				0.607	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1				9	23	0	0	0	0.008291	0	9	23		
KRTAP1-5	83895	broad.mit.edu	37	17	39183317	39183317	+	Missense_Mutation	SNP	C	C	G	rs549554201	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39183317C>G	ENST00000361883.5	-	1	137	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	31	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGTCTCACAGCAGCTT	0.597													c|||	2	0.000399361	0.0	0.0	5008	,	,		17479	0.0		0.0	False		,,,				2504	0.002					uc002hvu.2		NaN																	0					0						c.(91-93)GAG>CAG		keratin associated protein 1.5							32.0	40.0	37.0					17																	39183317		1987	4167	6154	SO:0001583	missense	83895					keratin filament		g.chr17:39183317C>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.91G>C	17.37:g.39183317C>G	ENSP00000355302:p.Glu31Gln						p.E31Q	NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	138	-		Breast(137;0.00043)	31			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.91G>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	C	0.150	-1.092702	0.01858	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.29397	1.57	2.53	1.52	0.23074	.	.	.	.	.	T	0.08133	0.0203	N	0.00750	-1.22	0.19775	N	0.99996	B	0.11235	0.004	B	0.12837	0.008	T	0.35822	-0.9773	9	0.05620	T	0.96	.	8.3782	0.32455	0.0:0.68:0.32:0.0	.	31	Q9BYS1	KRA15_HUMAN	Q	31	ENSP00000355302:E31Q	ENSP00000355302:E31Q	E	-	1	0	KRTAP1-5	36436843	0.000000	0.05858	0.946000	0.38457	0.942000	0.58702	-1.048000	0.03517	0.405000	0.25532	0.205000	0.17691	GAG		0.597	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1				4	14	0	0	0	0.00308	0	4	14		
KRTAP1-3	81850	broad.mit.edu	37	17	39190696	39190696	+	Silent	SNP	C	C	T	rs577484817		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39190696C>T	ENST00000344363.5	-	1	411	c.378G>A	c.(376-378)gtG>gtA	p.V126V		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	136						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GTGTGCAGCTCACCACACAGC	0.677													c|||	1	0.000199681	0.0	0.0014	5008	,	,		15314	0.0		0.0	False		,,,				2504	0.0					uc002hvv.2		NaN																	0					0						c.(376-378)GTG>GTA		keratin associated protein 1-3							27.0	33.0	31.0					17																	39190696		2110	4194	6304	SO:0001819	synonymous_variant	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190696C>T	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.378G>A	17.37:g.39190696C>T							p.V126V	NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	412	-		Breast(137;0.000496)	136					Q07628|Q8IUG0|Q9BYS2	Silent	SNP	ENST00000344363.5	37	c.378G>A	CCDS42323.1																																																																																				0.677	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1				16	16	0	0	0	0.004007	0	16	16		
KRT31	3881	broad.mit.edu	37	17	39551521	39551521	+	Silent	SNP	G	G	A	rs189521593	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39551521G>A	ENST00000251645.2	-	5	904	c.852C>T	c.(850-852)atC>atT	p.I284I		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	284	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CCTGCAGCTCGATCTCCAGGG	0.607													G|||	3	0.000599042	0.0	0.0	5008	,	,		20825	0.003		0.0	False		,,,				2504	0.0					uc002hwn.2		NaN																	0					0						c.(850-852)ATC>ATT		keratin 31		G		0,4406		0,0,2203	78.0	73.0	75.0		852	-0.6	1.0	17		75	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	KRT31	NM_002277.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		284/417	39551521	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551521G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.852C>T	17.37:g.39551521G>A						KRT31_uc010cxn.2_Silent_p.I284I	p.I284I	NM_002277	NP_002268	Q15323	K1H1_HUMAN			5	905	-		Breast(137;0.000496)	284			Coil 2.|Rod.		Q9UE12	Silent	SNP	ENST00000251645.2	37	c.852C>T	CCDS11391.1																																																																																				0.607	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1		NM_002277		24	80	0	0	0	0.003954	0	24	80		
NT5C3B	115024	broad.mit.edu	37	17	39981850	39981850	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39981850C>G	ENST00000435506.2	-	9	897	c.828G>C	c.(826-828)gaG>gaC	p.E276D	NT5C3B_ENST00000269534.8_Missense_Mutation_p.E268D|NT5C3B_ENST00000521789.1_Missense_Mutation_p.E176D			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	276					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										CATCCAGAGTCTCGTCCTTCT	0.637																																						uc002hyc.3		NaN																	0					0						c.(928-930)GAG>GAC		5'-nucleotidase, cytosolic III-like							111.0	101.0	104.0					17																	39981850		2203	4300	6503	SO:0001583	missense	115024					cytoplasm	5'-nucleotidase activity|magnesium ion binding	g.chr17:39981850C>G		CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.828G>C	17.37:g.39981850C>G	ENSP00000389948:p.Glu276Asp					NT5C3L_uc002hxx.3_Missense_Mutation_p.E175D|NT5C3L_uc010wfu.1_Missense_Mutation_p.E175D|NT5C3L_uc002hyb.3_Missense_Mutation_p.E233D|NT5C3L_uc002hyd.3_Missense_Mutation_p.E233D|NT5C3L_uc002hxy.3_Missense_Mutation_p.E268D|NT5C3L_uc002hxz.3_Missense_Mutation_p.E233D|NT5C3L_uc002hya.3_3'UTR	p.E310D	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.15)	9	939	-		Breast(137;0.000162)	276					A8MWB9|C9JKC4|Q7L3B7	Missense_Mutation	SNP	ENST00000435506.2	37	c.930G>C	CCDS11410.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001163	0.74818	.	.	ENSG00000141698	ENST00000269534;ENST00000521789;ENST00000393911;ENST00000435506	D;D;D	0.83914	-1.78;-1.78;-1.78	5.81	4.84	0.62591	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87509	0.6195	L	0.58428	1.81	0.52099	D	0.999948	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.84873	0.0826	10	0.23302	T	0.38	-3.6798	11.5751	0.50856	0.0:0.8548:0.0:0.1452	.	276;268	C9JKC4;Q969T7	.;5NT3L_HUMAN	D	268;176;310;276	ENSP00000269534:E268D;ENSP00000429878:E176D;ENSP00000389948:E276D	ENSP00000269534:E268D	E	-	3	2	NT5C3L	37235376	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	1.878000	0.39608	1.454000	0.47793	0.650000	0.86243	GAG		0.637	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2		NM_052935		51	42	0	0	0	0.01441	0	51	42		
KLHL10	317719	broad.mit.edu	37	17	40001428	40001428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40001428G>A	ENST00000293303.4	+	3	888	c.735G>A	c.(733-735)atG>atA	p.M245I		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	245					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				ATGTTAAGATGAATGACTATG	0.433																																						uc010cxr.2		NaN																	0				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(733-735)ATG>ATA		kelch-like 10							109.0	100.0	103.0					17																	40001428		2049	4195	6244	SO:0001583	missense	317719					cytoplasm		g.chr17:40001428G>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.735G>A	17.37:g.40001428G>A	ENSP00000293303:p.Met245Ile					KLHL10_uc010wfv.1_Missense_Mutation_p.M239I|KLHL10_uc010wfw.1_Missense_Mutation_p.M157I	p.M245I	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN			3	877	+		Breast(137;0.000162)	245					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.735G>A	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910411	0.33721	.	.	ENSG00000161594	ENST00000293303	T	0.68903	-0.36	5.51	5.51	0.81932	.	0.316914	0.40908	D	0.000999	T	0.51312	0.1667	L	0.36672	1.1	0.29261	N	0.871338	B;B	0.16166	0.016;0.016	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	.	.	.	.	7.1736	0.25732	0.083:0.0:0.7462:0.1708	.	239;245	B4DXV2;Q6JEL2	.;KLH10_HUMAN	I	245	ENSP00000293303:M245I	.	M	+	3	0	KLHL10	37254954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.983000	0.29552	2.873000	0.98535	0.561000	0.74099	ATG		0.433	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1		NM_152467		13	42	0	0	0	0.013537	0	13	42		
ACLY	47	broad.mit.edu	37	17	40069977	40069977	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40069977C>T	ENST00000352035.2	-	2	280	c.150G>A	c.(148-150)ctG>ctA	p.L50L	ACLY_ENST00000353196.1_Silent_p.L50L|ACLY_ENST00000537919.1_Silent_p.L50L|ACLY_ENST00000393896.2_Silent_p.L50L|ACLY_ENST00000590151.1_Silent_p.L50L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	50	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCTGGCTGAGCAGCCAGGGGT	0.582																																					Colon(64;807 1396 15971 30971)	uc002hyg.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(148-150)CTG>CTA		ATP citrate lyase isoform 1							74.0	67.0	69.0					17																	40069977		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40069977C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.150G>A	17.37:g.40069977C>T						ACLY_uc002hyh.2_Silent_p.L50L|ACLY_uc002hyi.2_Silent_p.L104L|ACLY_uc010wfx.1_Silent_p.L104L|ACLY_uc010wfy.1_Silent_p.L50L	p.L50L	NM_001096	NP_001087	P53396	ACLY_HUMAN			2	313	-		Breast(137;0.000143)	50					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.150G>A	CCDS11412.1																																																																																				0.582	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1		NM_001096		17	51	0	0	0	0.00499	0	17	51		
ACLY	47	broad.mit.edu	37	17	40070105	40070105	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40070105C>T	ENST00000352035.2	-	2	152	c.22G>A	c.(22-24)Gag>Aag	p.E8K	ACLY_ENST00000353196.1_Missense_Mutation_p.E8K|ACLY_ENST00000537919.1_Missense_Mutation_p.E8K|ACLY_ENST00000393896.2_Missense_Mutation_p.E8K|ACLY_ENST00000590151.1_Missense_Mutation_p.E8K	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	8	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCCGTCTGCTCTGAAATTGCC	0.547																																					Colon(64;807 1396 15971 30971)	uc002hyg.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(22-24)GAG>AAG		ATP citrate lyase isoform 1							180.0	159.0	166.0					17																	40070105		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40070105C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.22G>A	17.37:g.40070105C>T	ENSP00000253792:p.Glu8Lys					ACLY_uc002hyh.2_Missense_Mutation_p.E8K|ACLY_uc002hyi.2_Missense_Mutation_p.E62K|ACLY_uc010wfx.1_Missense_Mutation_p.E62K|ACLY_uc010wfy.1_Missense_Mutation_p.E8K	p.E8K	NM_001096	NP_001087	P53396	ACLY_HUMAN			2	185	-		Breast(137;0.000143)	8					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.22G>A	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340039	0.95783	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	M	0.89163	3.01	0.80722	D	1	P;D;D;D;D	0.89917	0.956;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.931;0.999;0.999;1.0;0.999	D	0.90443	0.4433	10	0.87932	D	0	.	19.7401	0.96223	0.0:1.0:0.0:0.0	.	8;62;62;8;8	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	K	8;62;8;8;8	ENSP00000253792:E8K;ENSP00000345398:E8K;ENSP00000445349:E8K;ENSP00000377474:E8K	ENSP00000253792:E8K	E	-	1	0	ACLY	37323631	1.000000	0.71417	0.971000	0.41717	0.639000	0.38242	7.568000	0.82369	2.735000	0.93741	0.563000	0.77884	GAG		0.547	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1		NM_001096		34	102	0	0	0	0.004289	0	34	102		
KCNH4	23415	broad.mit.edu	37	17	40323937	40323937	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40323937G>A	ENST00000264661.3	-	7	1396	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F	KCNH4_ENST00000607371.1_Missense_Mutation_p.S355F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	355					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACTGCACTGAGAGTACCGCTC	0.637																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NaN																	0				large_intestine(1)	1						c.(1063-1065)TCT>TTT		potassium voltage-gated channel, subfamily H,							73.0	54.0	61.0					17																	40323937		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40323937G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1064C>T	17.37:g.40323937G>A	ENSP00000264661:p.Ser355Phe						p.S355F	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	1397	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	355			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000264661.3	37	c.1064C>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997053	0.93167	.	.	ENSG00000089558	ENST00000264661	D	0.97161	-4.27	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.37178	N	0.002209	D	0.98185	0.9400	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98333	1.0534	10	0.51188	T	0.08	.	18.6574	0.91459	0.0:0.0:1.0:0.0	.	355	Q9UQ05	KCNH4_HUMAN	F	355	ENSP00000264661:S355F	ENSP00000264661:S355F	S	-	2	0	KCNH4	37577463	1.000000	0.71417	0.978000	0.43139	0.993000	0.82548	9.585000	0.98223	2.720000	0.93068	0.561000	0.74099	TCT		0.637	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2		NM_012285		7	14	0	0	0	0.001984	0	7	14		
STAT5B	6777	broad.mit.edu	37	17	40384031	40384031	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40384031C>G	ENST00000293328.3	-	2	283	c.115G>C	c.(115-117)Gaa>Caa	p.E39Q		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	39					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCTTGGCTTTCAATCCACTGG	0.423																																						uc002hzh.2		NaN																	0				ovary(3)|lung(2)|skin(1)	6						c.(115-117)GAA>CAA		signal transducer and activator of transcription	Dasatinib(DB01254)						143.0	128.0	133.0					17																	40384031		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40384031C>G	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.115G>C	17.37:g.40384031C>G	ENSP00000293328:p.Glu39Gln					STAT5B_uc002hzi.3_Missense_Mutation_p.E39Q	p.E39Q	NM_012448	NP_036580	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	2	284	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	39					Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.115G>C	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985149	0.93044	.	.	ENSG00000173757	ENST00000293328;ENST00000415845	T;T	0.80566	-1.39;-1.39	5.17	5.17	0.71159	STAT transcription factor, protein interaction (4);	0.000000	0.85682	D	0.000000	D	0.92031	0.7475	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93430	0.6784	10	0.87932	D	0	0.1023	18.4804	0.90809	0.0:1.0:0.0:0.0	.	39;39	Q8WW55;P51692	.;STA5B_HUMAN	Q	39	ENSP00000293328:E39Q;ENSP00000398379:E39Q	ENSP00000293328:E39Q	E	-	1	0	STAT5B	37637557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.509000	0.81698	2.711000	0.92665	0.561000	0.74099	GAA		0.423	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1		NM_012448		50	55	0	0	0	0.01441	0	50	55		
NAGLU	4669	broad.mit.edu	37	17	40689536	40689536	+	Nonsense_Mutation	SNP	G	G	A	rs483352897		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40689536G>A	ENST00000225927.2	+	2	605	c.504G>A	c.(502-504)tgG>tgA	p.W168*	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	168					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CACTGGCCTGGAGCGGCCAGG	0.647																																						uc002hzv.2		NaN																	0					0						c.(502-504)TGG>TGA		alpha-N-acetylglucosaminidase precursor	N-Acetyl-D-glucosamine(DB00141)						91.0	77.0	81.0					17																	40689536		2203	4300	6503	SO:0001587	stop_gained	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40689536G>A		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.504G>A	17.37:g.40689536G>A	ENSP00000225927:p.Trp168*						p.W168*	NM_000263	NP_000254	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	2	844	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	168						Nonsense_Mutation	SNP	ENST00000225927.2	37	c.504G>A	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	38	7.164398	0.98107	.	.	ENSG00000108784	ENST00000225927	.	.	.	4.3	3.25	0.37280	.	0.205075	0.46145	D	0.000304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-14.4522	10.8322	0.46667	0.0:0.3503:0.6497:0.0	.	.	.	.	X	168	.	ENSP00000225927:W168X	W	+	3	0	NAGLU	37943062	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	3.384000	0.52478	2.363000	0.80096	0.561000	0.74099	TGG		0.647	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1		NM_000263		11	35	0	0	0	0.008291	0	11	35		
PLEKHH3	79990	broad.mit.edu	37	17	40828484	40828484	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40828484C>T	ENST00000591022.1	-	1	485	c.98G>A	c.(97-99)gGg>gAg	p.G33E	PLEKHH3_ENST00000456950.2_5'Flank|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.G33E|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G33E	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	33					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTCCTCGTCCCCGTCCCCGCT	0.672																																						uc002iau.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(97-99)GGG>GAG		pleckstrin homology domain containing, family H							40.0	36.0	37.0					17																	40828484		2202	4300	6502	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40828484C>T	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.98G>A	17.37:g.40828484C>T	ENSP00000468678:p.Gly33Glu					PLEKHH3_uc002iat.1_5'Flank|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_5'UTR|PLEKHH3_uc002iaw.2_Missense_Mutation_p.G33E	p.G33E	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	1	565	-		Breast(137;0.00116)	33					C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.98G>A	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610173	0.46527	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	D;D	0.87571	-1.97;-2.27	4.66	3.61	0.41365	.	0.230345	0.22280	N	0.062138	T	0.71451	0.3341	N	0.08118	0	0.31699	N	0.640929	B;B	0.24963	0.115;0.041	B;B	0.19666	0.026;0.012	T	0.71609	-0.4541	10	0.49607	T	0.09	-29.8826	7.4422	0.27190	0.0:0.7072:0.188:0.1048	.	33;33	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	E	33	ENSP00000293349:G33E;ENSP00000411885:G33E	ENSP00000293349:G33E	G	-	2	0	PLEKHH3	38082010	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.521000	0.22893	2.116000	0.64780	0.563000	0.77884	GGG		0.672	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1		NM_024927		4	9	0	0	0	0.009096	0	4	9		
AARSD1	80755	broad.mit.edu	37	17	41116252	41116252	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:41116252G>A	ENST00000427569.2	-	2	77	c.42C>T	c.(40-42)ttC>ttT	p.F14F	AARSD1_ENST00000416949.1_5'UTR|PTGES3L-AARSD1_ENST00000409103.1_Silent_p.F97F|PTGES3L-AARSD1_ENST00000421990.2_Silent_p.F188F|PTGES3L-AARSD1_ENST00000360221.4_Silent_p.F127F|PTGES3L-AARSD1_ENST00000409399.1_Silent_p.F188F	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	14					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CGGTGGTGGTGAACTGAACAG	0.577																																						uc002icc.2		NaN																	0					0						c.(40-42)TTC>TTT		alanyl-tRNA synthetase domain containing 1							74.0	61.0	65.0					17																	41116252		2203	4300	6503	SO:0001819	synonymous_variant	80755				alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding	g.chr17:41116252G>A	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.42C>T	17.37:g.41116252G>A						AARSD1_uc002icd.2_Silent_p.F127F|AARSD1_uc002ice.2_Silent_p.F97F|AARSD1_uc002icf.2_Silent_p.F188F|AARSD1_uc010whg.1_Silent_p.F188F|AARSD1_uc010cyu.1_Silent_p.F14F	p.F14F	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	2	45	-		Breast(137;0.00499)	14					B4DI73	Silent	SNP	ENST00000427569.2	37	c.42C>T	CCDS58552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.248|5.248	0.231239|0.231239	0.09969|0.09969	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000452752|ENST00000441280;ENST00000430739	.|.	.|.	.|.	5.52|5.52	1.12|1.12	0.20585|0.20585	.|.	.|.	.|.	.|.	.|.	T|T	0.37237|0.37237	0.0996|0.0996	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42258|0.42258	-0.9462|-0.9462	3|3	.|.	.|.	.|.	-10.2363|-10.2363	5.5221|5.5221	0.16938|0.16938	0.2812:0.2336:0.4852:0.0|0.2812:0.2336:0.4852:0.0	.|.	.|.	.|.	.|.	Y|L	117|20	.|.	.|.	H|S	-|-	1|2	0|0	AARSD1|AARSD1	38369778|38369778	0.996000|0.996000	0.38824|0.38824	0.991000|0.991000	0.47740|0.47740	0.046000|0.046000	0.14306|0.14306	0.554000|0.554000	0.23407|0.23407	0.306000|0.306000	0.22856|0.22856	-1.721000|-1.721000	0.00707|0.00707	CAC|TCA		0.577	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1		NM_001261434		14	31	0	0	0	0.001855	0	14	31		
ATXN7L3	56970	broad.mit.edu	37	17	42274334	42274334	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:42274334G>A	ENST00000454077.2	-	4	416	c.417C>T	c.(415-417)atC>atT	p.I139I	CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000389384.4_Silent_p.I139I|ATXN7L3_ENST00000593073.1_Intron	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CGTTGTCATTGATGTCATCAT	0.512																																						uc002iga.2		NaN																	0					0						c.(415-417)ATC>ATT		ataxin 7-like 3 isoform b							163.0	152.0	155.0					17																	42274334		1927	4131	6058	SO:0001819	synonymous_variant	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42274334G>A	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.417C>T	17.37:g.42274334G>A						ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Silent_p.I139I	p.I139I	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	508	-		Breast(137;0.00765)|Prostate(33;0.0181)	139						Silent	SNP	ENST00000454077.2	37	c.417C>T	CCDS45697.1																																																																																				0.512	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1				41	97	0	0	0	0.01441	0	41	97		
GPATCH8	23131	broad.mit.edu	37	17	42513873	42513873	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:42513873G>C	ENST00000591680.1	-	4	264	c.234C>G	c.(232-234)gtC>gtG	p.V78V	GPATCH8_ENST00000434000.1_5'UTR|GPATCH8_ENST00000586265.1_5'UTR	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	78	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCATGCCCATGACATCATACT	0.373																																						uc002igw.1		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(232-234)GTC>GTG		G patch domain containing 8							142.0	118.0	126.0					17																	42513873		2203	4300	6503	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42513873G>C	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.234C>G	17.37:g.42513873G>C						GPATCH8_uc002igv.1_5'UTR|GPATCH8_uc010wiz.1_5'UTR	p.V78V	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	4	298	-		Prostate(33;0.0181)	78			G-patch.		B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.234C>G	CCDS32666.1																																																																																				0.373	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1		NM_001002909		45	60	0	0	0	0.013114	0	45	60		
C17orf104	284071	broad.mit.edu	37	17	42745073	42745073	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:42745073G>C	ENST00000409122.2	+	5	1936	c.1794G>C	c.(1792-1794)ggG>ggC	p.G598G	C17orf104_ENST00000359945.3_Silent_p.G598G|C17orf104_ENST00000409464.1_Silent_p.G432G	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	598										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AGAAGTATGGGATAATTGAAA	0.353																																						uc010czv.2		NaN																	0				central_nervous_system(1)	1						c.(1792-1794)GGG>GGC		hypothetical protein LOC284071							29.0	29.0	29.0					17																	42745073		2202	4300	6502	SO:0001819	synonymous_variant	284071							g.chr17:42745073G>C		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1794G>C	17.37:g.42745073G>C						C17orf104_uc002igy.1_Silent_p.G432G|C17orf104_uc002igz.3_Silent_p.G432G|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Silent_p.G432G	p.G598G	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN			5	1794	+			598					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Silent	SNP	ENST00000409122.2	37	c.1794G>C	CCDS45703.2																																																																																				0.353	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2		NM_001145080		5	30	0	0	0	0.000602	0	5	30		
C17orf104	284071	broad.mit.edu	37	17	42745351	42745351	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:42745351G>A	ENST00000409122.2	+	5	2214	c.2072G>A	c.(2071-2073)aGa>aAa	p.R691K	C17orf104_ENST00000359945.3_Missense_Mutation_p.R691K|C17orf104_ENST00000409464.1_Missense_Mutation_p.R525K	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	691										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TTTCCCCTAAGATCCACCCAC	0.368																																						uc010czv.2		NaN																	0				central_nervous_system(1)	1						c.(2071-2073)AGA>AAA		hypothetical protein LOC284071							85.0	77.0	79.0					17																	42745351		2203	4300	6503	SO:0001583	missense	284071							g.chr17:42745351G>A		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.2072G>A	17.37:g.42745351G>A	ENSP00000386452:p.Arg691Lys					C17orf104_uc002igy.1_Missense_Mutation_p.R525K|C17orf104_uc002igz.3_Missense_Mutation_p.R525K|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Missense_Mutation_p.R525K	p.R691K	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN			5	2072	+			691					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	c.2072G>A	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981739	0.34942	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.30981	1.52;1.51;1.53	5.85	4.88	0.63580	.	0.225557	0.40385	N	0.001101	T	0.19167	0.0460	L	0.27053	0.805	0.26384	N	0.976685	B;B;B	0.28350	0.1;0.1;0.208	B;B;B	0.23574	0.038;0.038;0.047	T	0.11616	-1.0580	10	0.15499	T	0.54	-31.0362	11.6623	0.51354	0.1347:0.0:0.8653:0.0	.	691;691;525	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	K	691;691;525	ENSP00000353028:R691K;ENSP00000386452:R691K;ENSP00000386586:R525K	ENSP00000353028:R691K	R	+	2	0	C17orf104	40100877	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.545000	0.53648	2.768000	0.95171	0.655000	0.94253	AGA		0.368	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2		NM_001145080		5	27	0	0	0	0.000602	0	5	27		
HEXIM1	10614	broad.mit.edu	37	17	43226866	43226866	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:43226866C>T	ENST00000332499.2	+	1	2183	c.309C>T	c.(307-309)ttC>ttT	p.F103F	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	103					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGGCGACTTCCCGCCGCCGG	0.672											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002iig.2		NaN																	0				ovary(1)	1						c.(307-309)TTC>TTT		hexamethylene bis-acetamide inducible 1							8.0	10.0	9.0					17																	43226866		2164	4252	6416	SO:0001819	synonymous_variant	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43226866C>T	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.309C>T	17.37:g.43226866C>T			OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914		p.F103F	NM_006460	NP_006451	O94992	HEXI1_HUMAN			1	2183	+			103					B2R8Y5	Silent	SNP	ENST00000332499.2	37	c.309C>T	CCDS11495.1																																																																																				0.672	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2		NM_006460		5	8	0	0	0	0.001984	0	5	8		
PLEKHM1	9842	broad.mit.edu	37	17	43545870	43545870	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:43545870G>A	ENST00000430334.3	-	5	1146	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	RN7SL730P_ENST00000583727.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S249L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	338					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GAGGGAGAGCGAGGCCTGTGG	0.552																																						uc002ija.2		NaN																	0					0						c.(1012-1014)TCG>TTG		pleckstrin homology domain containing, family M							128.0	123.0	125.0					17																	43545870		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43545870G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1013C>T	17.37:g.43545870G>A	ENSP00000389913:p.Ser338Leu					PLEKHM1_uc010wjm.1_Missense_Mutation_p.S310L|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.S287L	p.S338L	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			5	1183	-	Renal(3;0.0405)		338					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.1013C>T	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185875	0.21870	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.64260	-0.09;-0.09	4.69	2.69	0.31865	.	1.149390	0.06449	N	0.727456	T	0.55114	0.1900	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43130	-0.9410	10	0.38643	T	0.18	.	9.4054	0.38457	0.1883:0.0:0.8117:0.0	.	249;338	F8W648;Q9Y4G2	.;PKHM1_HUMAN	L	338;287;249	ENSP00000389913:S338L;ENSP00000414352:S249L	ENSP00000414352:S249L	S	-	2	0	PLEKHM1	40901653	0.016000	0.18221	0.001000	0.08648	0.000000	0.00434	1.333000	0.33816	0.706000	0.31912	-0.797000	0.03246	TCG		0.552	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1		NM_014798		28	30	0	0	0	0.00632	0	28	30		
OSBPL7	114881	broad.mit.edu	37	17	45891976	45891976	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:45891976G>A	ENST00000007414.3	-	14	1453	c.1262C>T	c.(1261-1263)tCa>tTa	p.S421L	OSBPL7_ENST00000392507.3_Missense_Mutation_p.S421L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	421					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CTCCTCCTCTGAGCCCTGGGC	0.642																																						uc002ilx.1		NaN																	0					0						c.(1261-1263)TCA>TTA		oxysterol-binding protein-like protein 7							59.0	47.0	51.0					17																	45891976		2203	4300	6503	SO:0001583	missense	114881				lipid transport		lipid binding	g.chr17:45891976G>A	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.1262C>T	17.37:g.45891976G>A	ENSP00000007414:p.Ser421Leu					OSBPL7_uc002ilw.1_5'UTR	p.S421L	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN			14	1465	-			421					D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	c.1262C>T	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330977	0.60853	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.21361	2.01;2.01	4.9	4.9	0.64082	.	0.420103	0.24422	N	0.038669	T	0.16214	0.0390	N	0.22421	0.69	0.38679	D	0.952489	B	0.15141	0.012	B	0.15870	0.014	T	0.05767	-1.0865	10	0.39692	T	0.17	-0.3017	14.9974	0.71443	0.0:0.0:1.0:0.0	.	421	Q9BZF2	OSBL7_HUMAN	L	421	ENSP00000007414:S421L;ENSP00000376295:S421L	ENSP00000007414:S421L	S	-	2	0	OSBPL7	43246975	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	5.762000	0.68809	2.274000	0.75844	0.655000	0.94253	TCA		0.642	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1		NM_017731		6	22	0	0	0	0.001168	0	6	22		
HOXB13	10481	broad.mit.edu	37	17	46805665	46805665	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:46805665C>T	ENST00000290295.7	-	1	875	c.291G>A	c.(289-291)ctG>ctA	p.L97L	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	97					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CACAGGGTTTCAGCGAGCTCC	0.672																																						uc002ioa.2		NaN																	0					0						c.(289-291)CTG>CTA		homeobox B13							46.0	57.0	53.0					17																	46805665		2203	4300	6503	SO:0001819	synonymous_variant	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46805665C>T	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.291G>A	17.37:g.46805665C>T							p.L97L	NM_006361	NP_006352	Q92826	HXB13_HUMAN			1	447	-			97					B2R878|Q96QM4|Q99810	Silent	SNP	ENST00000290295.7	37	c.291G>A	CCDS11536.1																																																																																				0.672	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3		NM_006361		39	46	0	0	0	0.009718	0	39	46		
SNF8	11267	broad.mit.edu	37	17	47022045	47022045	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:47022045C>T	ENST00000502492.1	-	1	434	c.52G>A	c.(52-54)Gag>Aag	p.E18K	SNF8_ENST00000290330.3_Missense_Mutation_p.E18K			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	18					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E18Q(1)		breast(1)|endometrium(1)|lung(1)	3						CTGCTCACCTCTGCAAGTTTC	0.677																																						uc002ioj.2		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(52-54)GAG>AAG		EAP30 subunit of ELL complex							126.0	136.0	133.0					17																	47022045		2203	4300	6503	SO:0001583	missense	11267				cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding	g.chr17:47022045C>T	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"""			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.52G>A	17.37:g.47022045C>T	ENSP00000421380:p.Glu18Lys					SNF8_uc002iok.2_Missense_Mutation_p.E18K	p.E18K	NM_007241	NP_009172	Q96H20	SNF8_HUMAN			1	110	-			18					Q8IXY3|Q9UN50	Missense_Mutation	SNP	ENST00000502492.1	37	c.52G>A	CCDS11541.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915032	0.72983	.	.	ENSG00000159210	ENST00000502492;ENST00000290330;ENST00000510558	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	N	0.10733	0.035	0.80722	D	1	B;B	0.25772	0.11;0.134	B;B	0.23574	0.028;0.047	T	0.44019	-0.9355	9	0.87932	D	0	-27.2163	18.004	0.89204	0.0:1.0:0.0:0.0	.	18;18	Q96H20-2;Q96H20	.;SNF8_HUMAN	K	18	.	ENSP00000290330:E18K	E	-	1	0	SNF8	44377044	1.000000	0.71417	0.989000	0.46669	0.671000	0.39405	6.867000	0.75511	2.565000	0.86533	0.561000	0.74099	GAG		0.677	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1		NM_007241		48	132	0	0	0	0.01441	0	48	132		
EPN3	55040	broad.mit.edu	37	17	48618874	48618874	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:48618874G>A	ENST00000268933.3	+	9	1983	c.1404G>A	c.(1402-1404)acG>acA	p.T468T	EPN3_ENST00000537145.1_Silent_p.T496T|EPN3_ENST00000541226.1_3'UTR|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	468						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AAAATGGCACGAAGGAGCCAG	0.582																																						uc002ira.3		NaN																	0				ovary(1)	1						c.(1402-1404)ACG>ACA		epsin 3							55.0	56.0	55.0					17																	48618874		2203	4300	6503	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48618874G>A	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1404G>A	17.37:g.48618874G>A						SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Silent_p.T496T|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Silent_p.T441T	p.T468T	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		9	1839	+	Breast(11;1.23e-18)		468					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	c.1404G>A	CCDS11570.1																																																																																				0.582	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1		NM_017957		9	41	0	0	0	0.004482	0	9	41		
WFIKKN2	124857	broad.mit.edu	37	17	48917453	48917453	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:48917453C>T	ENST00000311378.4	+	2	1332	c.804C>T	c.(802-804)aaC>aaT	p.N268N	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Silent_p.N175N	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	268	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGGTCACCAACATTGCCCAGC	0.627																																						uc002isv.3		NaN																	0				ovary(2)|skin(1)	3						c.(802-804)AAC>AAT		WFIKKN2 protein							104.0	90.0	94.0					17																	48917453		2203	4300	6503	SO:0001819	synonymous_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917453C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.804C>T	17.37:g.48917453C>T						WFIKKN2_uc010dbu.2_Silent_p.N175N	p.N268N	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1498	+			268			Ig-like C2-type.		Q6UXZ9	Silent	SNP	ENST00000311378.4	37	c.804C>T	CCDS11575.1																																																																																				0.627	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1		NM_175575		18	34	0	0	0	0.00499	0	18	34		
SCPEP1	59342	broad.mit.edu	37	17	55058443	55058443	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:55058443G>A	ENST00000262288.3	+	2	132	c.77G>A	c.(76-78)gGa>gAa	p.G26E	SCPEP1_ENST00000571898.1_3'UTR|RP5-1107A17.4_ENST00000572877.1_RNA	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	26					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TCTGTTTCAGGAGCTGTCATT	0.483																																						uc002iuv.3		NaN																	0				skin(1)	1						c.(76-78)GGA>GAA		serine carboxypeptidase 1 precursor							90.0	77.0	81.0					17																	55058443		2203	4300	6503	SO:0001630	splice_region_variant	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55058443G>A	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.77-1G>A	17.37:g.55058443G>A						SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Intron	p.G26E	NM_021626	NP_067639	Q9HB40	RISC_HUMAN			2	130	+	Breast(9;2.86e-08)		26					Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	c.77G>A	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816118	0.70912	.	.	ENSG00000121064	ENST00000262288	T	0.18657	2.2	5.84	5.84	0.93424	.	3.535590	0.00541	N	0.000232	T	0.47710	0.1460	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02047	-1.1223	9	.	.	.	.	17.0558	0.86533	0.0:0.0:1.0:0.0	.	26	Q9HB40	RISC_HUMAN	E	26	ENSP00000262288:G26E	.	G	+	2	0	SCPEP1	52413442	1.000000	0.71417	0.999000	0.59377	0.378000	0.30076	3.937000	0.56575	2.764000	0.94973	0.655000	0.94253	GGA		0.483	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1		NM_021626	Missense_Mutation	22	15	0	0	0	0.012319	0	22	15		
SCPEP1	59342	broad.mit.edu	37	17	55074400	55074400	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:55074400C>G	ENST00000262288.3	+	9	919	c.864C>G	c.(862-864)ttC>ttG	p.F288L		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	288					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GTCTAGAATTCACACAGAGCC	0.368																																						uc002iuv.3		NaN																	0				skin(1)	1						c.(862-864)TTC>TTG		serine carboxypeptidase 1 precursor							85.0	83.0	83.0					17																	55074400		2203	4300	6503	SO:0001583	missense	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55074400C>G	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.864C>G	17.37:g.55074400C>G	ENSP00000262288:p.Phe288Leu					SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Missense_Mutation_p.F238L	p.F288L	NM_021626	NP_067639	Q9HB40	RISC_HUMAN			9	917	+	Breast(9;2.86e-08)		288					Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	c.864C>G	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789370	0.31685	.	.	ENSG00000121064	ENST00000262288	T	0.39229	1.09	5.39	3.39	0.38822	.	0.265947	0.37809	N	0.001931	T	0.24928	0.0605	L	0.33189	0.99	0.31816	N	0.626679	B	0.16603	0.018	B	0.22386	0.039	T	0.22452	-1.0216	10	0.07325	T	0.83	-6.0064	5.7562	0.18174	0.1575:0.6756:0.0:0.1669	.	288	Q9HB40	RISC_HUMAN	L	288	ENSP00000262288:F288L	ENSP00000262288:F288L	F	+	3	2	SCPEP1	52429399	0.522000	0.26266	0.742000	0.31022	0.866000	0.49608	1.107000	0.31110	1.266000	0.44231	0.557000	0.71058	TTC		0.368	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1		NM_021626		13	54	0	0	0	0.00245	0	13	54		
MSI2	124540	broad.mit.edu	37	17	55693406	55693406	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:55693406T>C	ENST00000284073.2	+	9	822	c.613T>C	c.(613-615)Tac>Cac	p.Y205H	MSI2_ENST00000442934.2_Missense_Mutation_p.Y144H|MSI2_ENST00000322684.3_Missense_Mutation_p.Y201H|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000416426.2_Missense_Mutation_p.Y183H|MSI2_ENST00000579180.1_Missense_Mutation_p.Y101H|RN7SL449P_ENST00000464937.2_RNA	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	205						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GGGACTGCCTTACACCATGGA	0.562			T	HOXA9	CML																																	uc002iuz.1		NaN		Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|pancreas(1)	2						c.(613-615)TAC>CAC		musashi 2 isoform a							152.0	125.0	134.0					17																	55693406		2203	4300	6503	SO:0001583	missense	124540					cytoplasm	nucleotide binding|RNA binding	g.chr17:55693406T>C	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.613T>C	17.37:g.55693406T>C	ENSP00000284073:p.Tyr205His					MSI2_uc010wnm.1_Missense_Mutation_p.Y183H|MSI2_uc002iva.2_Missense_Mutation_p.Y201H	p.Y205H	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	9	786	+	Breast(9;1.78e-08)		205					Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.613T>C	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524648	0.85600	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684;ENST00000442934	T;T;T;T	0.21543	3.32;2.0;3.32;3.32	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.54323	1.7	0.58432	D	0.999995	D;D;D	0.71674	0.998;0.994;0.989	D;D;P	0.75484	0.986;0.93;0.839	T	0.24440	-1.0160	10	0.59425	D	0.04	.	15.9346	0.79691	0.0:0.0:0.0:1.0	.	183;201;205	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	H	183;205;201;144	ENSP00000414671:Y183H;ENSP00000284073:Y205H;ENSP00000313616:Y201H;ENSP00000392607:Y144H	ENSP00000284073:Y205H	Y	+	1	0	MSI2	53048405	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.698000	0.84413	2.178000	0.69098	0.533000	0.62120	TAC		0.562	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1				36	106	0	0	0	0.00623	0	36	106		
BZRAP1	9256	broad.mit.edu	37	17	56388949	56388949	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56388949A>C	ENST00000343736.4	-	18	3227	c.3064T>G	c.(3064-3066)Tac>Gac	p.Y1022D	BZRAP1_ENST00000355701.3_Missense_Mutation_p.Y1022D|BZRAP1_ENST00000268893.6_Missense_Mutation_p.Y962D			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1022	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATCAGCGTAGATGGCATAG	0.602																																						uc002ivx.3		NaN																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(3064-3066)TAC>GAC		peripheral benzodiazepine receptor-associated							84.0	72.0	76.0					17																	56388949		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56388949A>C	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3064T>G	17.37:g.56388949A>C	ENSP00000345824:p.Tyr1022Asp					BZRAP1_uc010dcs.2_Missense_Mutation_p.Y962D|BZRAP1_uc010wnt.1_Missense_Mutation_p.Y1022D	p.Y1022D	NM_004758	NP_004749	O95153	RIMB1_HUMAN			18	3935	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1022			Fibronectin type-III 3.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.3064T>G	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569057	0.86439	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.53640	0.61;0.61;0.61	5.38	5.38	0.77491	Fibronectin, type III (3);	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.997	T	0.78396	-0.2220	10	0.87932	D	0	.	14.8662	0.70419	1.0:0.0:0.0:0.0	.	1022;962;1022	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	D	1022;1022;962	ENSP00000347929:Y1022D;ENSP00000345824:Y1022D;ENSP00000268893:Y962D	ENSP00000268893:Y962D	Y	-	1	0	BZRAP1	53743948	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.248000	0.95456	2.176000	0.68965	0.455000	0.32223	TAC		0.602	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1		NM_004758		15	41	0	0	0	0.00245	0	15	41		
SUPT4H1	6827	broad.mit.edu	37	17	56428800	56428800	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56428800C>T	ENST00000225504.3	-	2	205	c.139G>A	c.(139-141)Gag>Aag	p.E47K	SUPT4H1_ENST00000577396.1_Missense_Mutation_p.E6K|BZRAP1-AS1_ENST00000583841.1_RNA|BZRAP1-AS1_ENST00000582348.1_RNA|BZRAP1-AS1_ENST00000585236.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000583826.1_RNA|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000579859.1_RNA|SUPT4H1_ENST00000581540.1_Missense_Mutation_p.E38K|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000580022.1_RNA|SUPT4H1_ENST00000580947.1_Missense_Mutation_p.E47K|BZRAP1-AS1_ENST00000578025.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA	NM_003168.1	NP_003159.1	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)	47					chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TATACCATCTCTCGGTTACCC	0.408																																					NSCLC(25;723 896 19867 29219 40028)	uc002iwe.1		NaN																	0				skin(2)	2						c.(139-141)GAG>AAG		suppressor of Ty 4 homolog 1							237.0	203.0	214.0					17																	56428800		2203	4300	6503	SO:0001583	missense	6827				chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:56428800C>T	U38817	CCDS11606.1	17q22	2014-06-23	2001-11-28		ENSG00000213246	ENSG00000213246			11467	protein-coding gene	gene with protein product		603555	"""suppressor of Ty (S.cerevisiae) 4 homolog 1"""	SUPT4H		8786137	Standard	NM_003168		Approved	SPT4H	uc002iwe.2	P63272	OTTHUMG00000178926	ENST00000225504.3:c.139G>A	17.37:g.56428800C>T	ENSP00000225504:p.Glu47Lys					uc010dct.1_Intron|uc010dcu.1_Intron|uc002ivz.2_Intron|uc010dcv.1_Intron|uc002iwa.2_Intron|uc002iwb.2_Intron|uc002iwc.2_Intron|SUPT4H1_uc002iwd.1_RNA	p.E47K	NM_003168	NP_003159	P63272	SPT4H_HUMAN			2	206	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		47					B2R4X8|D3DTZ4|Q16550|Q62387|Q6ZP89	Missense_Mutation	SNP	ENST00000225504.3	37	c.139G>A	CCDS11606.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557141	0.86231	.	.	ENSG00000213246	ENST00000225504	.	.	.	5.16	5.16	0.70880	Spt4/RpoE2 zinc finger (1);	0.071104	0.56097	U	0.000024	T	0.72961	0.3526	M	0.85197	2.74	0.80722	D	1	B	0.31459	0.324	B	0.37091	0.241	T	0.75445	-0.3315	9	0.56958	D	0.05	-16.652	14.0135	0.64511	0.0:1.0:0.0:0.0	.	47	P63272	SPT4H_HUMAN	K	47	.	ENSP00000225504:E47K	E	-	1	0	SUPT4H1	53783799	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.843000	0.75384	2.691000	0.91804	0.561000	0.74099	GAG		0.408	SUPT4H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444000.1		NM_003168		26	115	0	0	0	0.004656	0	26	115		
HSF5	124535	broad.mit.edu	37	17	56565211	56565211	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56565211A>C	ENST00000323777.3	-	1	534	c.425T>G	c.(424-426)cTg>cGg	p.L142R		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	142					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCACCTCCAGGCCGGCCGC	0.726																																						uc002iwi.1		NaN																	0				ovary(2)|skin(1)	3						c.(424-426)CTG>CGG		heat shock transcription factor family member 5							12.0	17.0	15.0					17																	56565211		2188	4269	6457	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56565211A>C	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.425T>G	17.37:g.56565211A>C	ENSP00000313243:p.Leu142Arg						p.L142R	NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN			1	549	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		142			By similarity.		Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.425T>G	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557330	0.45590	.	.	ENSG00000176160	ENST00000323777	T	0.33216	1.42	3.82	3.82	0.43975	.	0.802999	0.10405	N	0.678602	T	0.37758	0.1015	N	0.19112	0.55	0.44685	D	0.997676	D	0.65815	0.995	D	0.66602	0.945	T	0.05162	-1.0902	9	.	.	.	.	11.8925	0.52637	1.0:0.0:0.0:0.0	.	142	Q4G112	HSF5_HUMAN	R	142	ENSP00000313243:L142R	.	L	-	2	0	HSF5	53920210	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	4.432000	0.59922	1.750000	0.51863	0.254000	0.18369	CTG		0.726	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1		XM_064190		2	0	0	0	0	0.004672	0	2	0		
C17orf47	284083	broad.mit.edu	37	17	56620915	56620915	+	Silent	SNP	C	C	T	rs139661038		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56620915C>T	ENST00000321691.3	-	1	814	c.633G>A	c.(631-633)acG>acA	p.T211T	RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	211								p.T211T(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACTAGTAGTCGTAATTCTTT	0.512																																						uc002iwq.1		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	breast(1)	1						c.(631-633)ACG>ACA		hypothetical protein LOC284083		C		1,4405	2.1+/-5.4	0,1,2202	109.0	112.0	111.0		633	0.6	0.0	17	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous	C17orf47	NM_001038704.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		211/571	56620915	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284083							g.chr17:56620915C>T		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.633G>A	17.37:g.56620915C>T						SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	p.T211T	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			1	769	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		211					Q8N821	Silent	SNP	ENST00000321691.3	37	c.633G>A	CCDS32691.1																																																																																				0.512	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1		NM_001038704		48	140	0	0	0	0.01441	0	48	140		
TEX14	56155	broad.mit.edu	37	17	56650602	56650602	+	Missense_Mutation	SNP	A	A	C	rs140397968		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56650602A>C	ENST00000240361.8	-	24	3674	c.3589T>G	c.(3589-3591)Tca>Gca	p.S1197A	TEX14_ENST00000349033.5_Missense_Mutation_p.S1151A|TEX14_ENST00000389934.3_Missense_Mutation_p.S1191A			Q8IWB6	TEX14_HUMAN	testis expressed 14	1197					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTTTGCATGAAGCTTCCTTA	0.428																																						uc010dcz.1		NaN																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(3589-3591)TCA>GCA		testis expressed sequence 14 isoform a							280.0	263.0	269.0					17																	56650602		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56650602A>C	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3589T>G	17.37:g.56650602A>C	ENSP00000240361:p.Ser1197Ala					TEX14_uc002iwr.1_Missense_Mutation_p.S1191A|TEX14_uc002iws.1_Missense_Mutation_p.S1151A|TEX14_uc010dda.1_Missense_Mutation_p.S931A	p.S1197A	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			24	3707	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1197					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.3589T>G	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878306	0.51801	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.22539	1.95;1.95;1.95	5.64	4.53	0.55603	.	0.479273	0.19512	N	0.112485	T	0.13200	0.0320	L	0.27053	0.805	0.23598	N	0.997323	B;P;P	0.34615	0.329;0.459;0.459	B;B;B	0.33960	0.084;0.16;0.173	T	0.13926	-1.0491	10	0.52906	T	0.07	-5.2035	5.1994	0.15256	0.8503:0.0:0.1497:0.0	.	1197;1151;1191	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	A	1197;1191;1151	ENSP00000240361:S1197A;ENSP00000374584:S1191A;ENSP00000268910:S1151A	ENSP00000240361:S1197A	S	-	1	0	TEX14	54005601	0.088000	0.21588	0.992000	0.48379	0.883000	0.51084	1.264000	0.33015	2.158000	0.67659	0.454000	0.30748	TCA		0.428	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1				60	214	0	0	0	0.01441	0	60	214		
BCAS3	54828	broad.mit.edu	37	17	59067592	59067592	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:59067592G>A	ENST00000390652.5	+	15	1513	c.1482G>A	c.(1480-1482)ttG>ttA	p.L494L	BCAS3_ENST00000588462.1_Silent_p.L494L|BCAS3_ENST00000588874.1_Silent_p.L265L|BCAS3_ENST00000407086.3_Silent_p.L494L|BCAS3_ENST00000585744.1_Silent_p.L265L|BCAS3_ENST00000589222.1_Silent_p.L494L|BCAS3_ENST00000408905.3_Silent_p.L494L	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GGTCACCCTTGCATGGTAATT	0.438																																						uc002iyv.3		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1480-1482)TTG>TTA		breast carcinoma amplified sequence 3 isoform 1							57.0	58.0	57.0					17																	59067592		1895	4109	6004	SO:0001819	synonymous_variant	54828					nucleus		g.chr17:59067592G>A	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1482G>A	17.37:g.59067592G>A						BCAS3_uc010wow.1_Silent_p.L281L|BCAS3_uc002iyu.3_Silent_p.L494L|BCAS3_uc002iyw.3_Silent_p.L490L|BCAS3_uc002iyx.1_Silent_p.L309L|BCAS3_uc002iyy.3_Silent_p.L265L|BCAS3_uc002iyz.3_Silent_p.L48L|BCAS3_uc002iza.3_Silent_p.L48L	p.L494L	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		15	1591	+			494						Silent	SNP	ENST00000390652.5	37	c.1482G>A	CCDS45749.1																																																																																				0.438	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1		NM_017679		21	52	0	0	0	0.014323	0	21	52		
MED13	9969	broad.mit.edu	37	17	60088352	60088352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:60088352G>A	ENST00000397786.2	-	9	1602	c.1526C>T	c.(1525-1527)tCa>tTa	p.S509L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	509					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCGGATATTTGAAAATCTCAC	0.463																																						uc002izo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1525-1527)TCA>TTA		mediator complex subunit 13							164.0	159.0	160.0					17																	60088352		1995	4176	6171	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60088352G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1526C>T	17.37:g.60088352G>A	ENSP00000380888:p.Ser509Leu					MED13_uc002izp.2_Missense_Mutation_p.S125L	p.S509L	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			9	1603	-			509					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.1526C>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949394	0.53186	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74842	-0.88	6.16	6.16	0.99307	.	0.394623	0.29233	N	0.012750	T	0.72317	0.3445	L	0.47716	1.5	0.58432	D	0.999991	B;B	0.20988	0.05;0.006	B;B	0.21151	0.033;0.01	T	0.64521	-0.6388	10	0.42905	T	0.14	-3.499	20.8598	0.99761	0.0:0.0:1.0:0.0	.	22;509	Q9P0Q5;Q9UHV7	.;MED13_HUMAN	L	509;508	ENSP00000380888:S509L	ENSP00000262436:S508L	S	-	2	0	MED13	57443134	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.574000	0.90763	2.937000	0.99478	0.650000	0.86243	TCA		0.463	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121		26	86	0	0	0	0.00632	0	26	86		
LRRC37A3	374819	broad.mit.edu	37	17	62892235	62892235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:62892235C>T	ENST00000584306.1	-	3	1671	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E381K|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000584959.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	381						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTGGGGTCTCCTGCTGGGTC	0.517																																						uc002jey.2		NaN																	0					0						c.(1141-1143)GAG>AAG		leucine rich repeat containing 37, member A3							23.0	29.0	27.0					17																	62892235		1882	3910	5792	SO:0001583	missense	374819					integral to membrane		g.chr17:62892235C>T	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1141G>A	17.37:g.62892235C>T	ENSP00000464535:p.Glu381Lys					LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	p.E381K	NM_199340	NP_955372	O60309	L37A3_HUMAN			3	1672	-			381			Extracellular (Potential).		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.1141G>A	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	10.73	1.432865	0.25813	.	.	ENSG00000176809	ENST00000319651	T	0.65916	-0.18	2.49	2.49	0.30216	.	.	.	.	.	T	0.59851	0.2224	M	0.80508	2.5	0.09310	N	1	P	0.48503	0.911	B	0.39027	0.288	T	0.56469	-0.7974	9	0.51188	T	0.08	.	8.5454	0.33417	0.0:1.0:0.0:0.0	.	381	O60309	L37A3_HUMAN	K	381	ENSP00000325713:E381K	ENSP00000325713:E381K	E	-	1	0	LRRC37A3	60322697	0.000000	0.05858	0.005000	0.12908	0.036000	0.12997	0.584000	0.23864	1.402000	0.46780	0.281000	0.19383	GAG		0.517	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1		NM_199340		82	153	0	0	0	0.01441	0	82	153		
SLC16A6	9120	broad.mit.edu	37	17	66267782	66267782	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:66267782C>T	ENST00000327268.4	-	6	683	c.519G>A	c.(517-519)ctG>ctA	p.L173L	SLC16A6_ENST00000580666.1_Silent_p.L173L|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	173					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TGCGCTCCTTCAGAGCCATGA	0.448																																						uc002jgz.1		NaN																	0					0						c.(517-519)CTG>CTA		solute carrier family 16, member 6	Pyruvic acid(DB00119)						38.0	37.0	38.0					17																	66267782		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267782C>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.519G>A	17.37:g.66267782C>T						ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.L173L	p.L173L	NM_004694	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	707	-	all_cancers(12;1.24e-09)		173			Extracellular (Potential).		Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.519G>A	CCDS11675.1																																																																																				0.448	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1		NM_004694		25	24	0	0	0	0.008361	0	25	24		
ABCA10	10349	broad.mit.edu	37	17	67149526	67149526	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:67149526C>A	ENST00000269081.4	-	35	4965	c.4056G>T	c.(4054-4056)ctG>ctT	p.L1352L	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1352	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCAGGATGCTCAGCACAAAGC	0.562																																						uc010dfa.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(4054-4056)CTG>CTT		ATP-binding cassette, sub-family A, member 10							103.0	102.0	102.0					17																	67149526		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67149526C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4056G>T	17.37:g.67149526C>A						ABCA10_uc002jhz.2_5'Flank|ABCA10_uc010wqs.1_Silent_p.L344L|ABCA10_uc010wqt.1_RNA	p.L1352L	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			35	4935	-	Breast(10;6.95e-12)		1352			ABC transporter 2.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.4056G>T	CCDS11684.1																																																																																				0.562	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4		NM_080282		36	110	1	0	4.11147e-13	0.003755	4.30386e-13	36	110		
ABCA10	10349	broad.mit.edu	37	17	67170479	67170479	+	Silent	SNP	T	T	C	rs143503638	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:67170479T>C	ENST00000269081.4	-	26	4014	c.3105A>G	c.(3103-3105)tcA>tcG	p.S1035S	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1035					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAAAGATGAATGAAAGCACAT	0.338																																						uc010dfa.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3103-3105)TCA>TCG		ATP-binding cassette, sub-family A, member 10							91.0	89.0	90.0					17																	67170479		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67170479T>C	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3105A>G	17.37:g.67170479T>C						ABCA10_uc010wqs.1_Silent_p.S27S|ABCA10_uc010wqt.1_RNA	p.S1035S	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			26	3984	-	Breast(10;6.95e-12)		1035					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.3105A>G	CCDS11684.1																																																																																				0.338	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4		NM_080282		32	130	0	0	0	0.003755	0	32	130		
SOX9	6662	broad.mit.edu	37	17	70119040	70119040	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:70119040C>T	ENST00000245479.2	+	2	984	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	204					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACGCCATCTTCAAGGCGCTGC	0.677																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.2		NaN																	0					0						c.(610-612)TTC>TTT		transcription factor SOX9							70.0	76.0	74.0					17																	70119040		2203	4300	6503	SO:0001819	synonymous_variant	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70119040C>T	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.612C>T	17.37:g.70119040C>T						uc002jiv.2_5'Flank	p.F204F	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		2	984	+		Colorectal(1115;0.245)	204					Q53Y80	Silent	SNP	ENST00000245479.2	37	c.612C>T	CCDS11689.1																																																																																				0.677	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1		NM_000346		35	39	0	0	0	0.00623	0	35	39		
ICT1	3396	broad.mit.edu	37	17	73016661	73016661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:73016661G>A	ENST00000301585.5	+	5	458	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	149					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GAATCTGGCAGATTGCCTGCA	0.453																																						uc002jmm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(445-447)GAT>AAT		immature colon carcinoma transcript 1 precursor							64.0	65.0	65.0					17																	73016661		2203	4300	6503	SO:0001583	missense	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73016661G>A	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.445G>A	17.37:g.73016661G>A	ENSP00000301585:p.Asp149Asn						p.D149N	NM_001545	NP_001536	Q14197	ICT1_HUMAN			5	447	+	all_lung(278;0.226)		149					B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	c.445G>A	CCDS11711.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582476	0.65992	.	.	ENSG00000167862	ENST00000301585	T	0.30714	1.52	5.77	3.77	0.43336	Peptide chain release factor class I/class II (1);	0.559257	0.19906	N	0.103401	T	0.31544	0.0800	L	0.60455	1.87	0.33198	D	0.551812	B	0.21225	0.053	B	0.28385	0.089	T	0.44267	-0.9339	10	0.59425	D	0.04	-8.9545	9.7645	0.40552	0.2254:0.0:0.7746:0.0	.	149	Q14197	ICT1_HUMAN	N	149	ENSP00000301585:D149N	ENSP00000301585:D149N	D	+	1	0	ICT1	70528256	0.985000	0.35326	0.988000	0.46212	0.952000	0.60782	2.956000	0.49129	1.446000	0.47643	0.561000	0.74099	GAT		0.453	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1		NM_001545		14	41	0	0	0	0.004007	0	14	41		
SRP68	6730	broad.mit.edu	37	17	74053483	74053483	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:74053483C>T	ENST00000307877.2	-	8	1140		c.e8+1		SRP68_ENST00000355113.5_Splice_Site|SRP68_ENST00000539137.1_Splice_Site	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTCCTCCTCACCTGGACAATA	0.448																																						uc002jqk.1		NaN																	0				ovary(1)	1						c.e8+1		signal recognition particle 68kDa							180.0	154.0	163.0					17																	74053483		2203	4300	6503	SO:0001630	splice_region_variant	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74053483C>T	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.978+1G>A	17.37:g.74053483C>T						SRP68_uc010wsu.1_Splice_Site_p.Q225_splice|SRP68_uc002jql.1_Splice_Site_p.Q288_splice	p.Q326_splice	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			8	1013	-								B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Splice_Site	SNP	ENST00000307877.2	37	c.978_splice	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484089	0.63962	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6893	0.95993	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRP68	71565078	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	5.633000	0.67825	2.729000	0.93468	0.655000	0.94253	.		0.448	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230	Intron	20	43	0	0	0	0.010504	0	20	43		
CBX2	84733	broad.mit.edu	37	17	77758613	77758613	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:77758613G>A	ENST00000310942.4	+	5	1475	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	457					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CACTGCCAGAGATGAGCGCAG	0.672																																						uc002jxc.2		NaN																	0					0						c.(1369-1371)GAG>GAA		chromobox homolog 2 isoform 1							22.0	22.0	22.0					17																	77758613		2195	4298	6493	SO:0001819	synonymous_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758613G>A	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1371G>A	17.37:g.77758613G>A							p.E457E	NM_005189	NP_005180	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1413	+			457					Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	c.1371G>A	CCDS32757.1																																																																																				0.672	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1		NM_032647		4	8	0	0	0	0.001168	0	4	8		
CBX8	57332	broad.mit.edu	37	17	77770064	77770064	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:77770064G>A	ENST00000269385.4	-	3	281	c.164C>T	c.(163-165)gCa>gTa	p.A55V	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	55	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCAAAGGCTGCGAGCAAGCG	0.532																																						uc002jxd.1		NaN																	0					0						c.(163-165)GCA>GTA		chromobox homolog 8							175.0	165.0	169.0					17																	77770064		2203	4300	6503	SO:0001583	missense	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77770064G>A	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.164C>T	17.37:g.77770064G>A	ENSP00000269385:p.Ala55Val						p.A55V	NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	257	-			55			Chromo.		Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	c.164C>T	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688422	0.68271	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	T;T;T	0.53206	0.63;0.63;0.63	4.54	4.54	0.55810	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.051728	0.85682	D	0.000000	T	0.62744	0.2453	L	0.48986	1.54	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.59059	-0.7525	10	0.27785	T	0.31	-11.0811	17.6463	0.88149	0.0:0.0:1.0:0.0	.	55	Q9HC52	CBX8_HUMAN	V	55;30;45	ENSP00000269385:A55V;ENSP00000408753:A30V;ENSP00000405058:A45V	ENSP00000269385:A55V	A	-	2	0	CBX8	75384659	1.000000	0.71417	0.994000	0.49952	0.718000	0.41266	9.420000	0.97426	2.242000	0.73789	0.561000	0.74099	GCA		0.532	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1		NM_020649		118	106	0	0	0	0.01441	0	118	106		
CCDC40	55036	broad.mit.edu	37	17	78039319	78039319	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:78039319G>C	ENST00000397545.4	+	10	1503	c.1476G>C	c.(1474-1476)aaG>aaC	p.K492N	CCDC40_ENST00000374877.3_Missense_Mutation_p.K492N|CCDC40_ENST00000269318.5_Missense_Mutation_p.K492N|CCDC40_ENST00000374876.4_Intron	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	492					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCGTGGAGAAGAGGCGCATCA	0.632																																						uc010dht.2		NaN																	0				ovary(3)	3						c.(1474-1476)AAG>AAC		coiled-coil domain containing 40							59.0	68.0	65.0					17																	78039319		2127	4232	6359	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78039319G>C	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1476G>C	17.37:g.78039319G>C	ENSP00000380679:p.Lys492Asn					CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Missense_Mutation_p.K275N	p.K492N	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		10	1503	+	all_neural(118;0.167)		492					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1476G>C	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334546	0.41297	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000397545	T;D;T	0.84730	0.35;-1.89;0.48	4.84	-3.24	0.05094	.	.	.	.	.	D	0.90998	0.7169	M	0.83483	2.645	0.34586	D	0.71497	D;D	0.76494	0.999;0.999	D;D	0.76071	0.98;0.987	D	0.91584	0.5281	9	0.87932	D	0	-35.1751	12.7906	0.57530	0.4871:0.0:0.5129:0.0	.	492;275	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	N	492	ENSP00000364011:K492N;ENSP00000269318:K492N;ENSP00000380679:K492N	ENSP00000269318:K492N	K	+	3	2	CCDC40	75653914	1.000000	0.71417	0.344000	0.25628	0.135000	0.20990	0.563000	0.23547	-0.402000	0.07633	-0.136000	0.14681	AAG		0.632	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2		XM_371082		14	54	0	0	0	0.001855	0	14	54		
ACTG1	71	broad.mit.edu	37	17	79478272	79478272	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:79478272G>A	ENST00000575842.1	-	3	1170	c.744C>T	c.(742-744)atC>atT	p.I248I	ACTG1_ENST00000575087.1_Silent_p.I248I|ACTG1_ENST00000331925.2_Silent_p.I248I|ACTG1_ENST00000573283.1_Silent_p.I248I|RP13-766D20.2_ENST00000430912.1_RNA|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	248					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGCCAATGGTGATGACCTGGC	0.587																																						uc002kaj.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(742-744)ATC>ATT		actin, gamma 1 propeptide							66.0	67.0	67.0					17																	79478272		2203	4300	6503	SO:0001819	synonymous_variant	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478272G>A		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.744C>T	17.37:g.79478272G>A						ACTG1_uc002kah.1_Silent_p.I126I|ACTG1_uc002kai.1_Silent_p.I205I|ACTG1_uc002kak.1_Silent_p.I248I|ACTG1_uc010wun.1_Silent_p.I248I|ACTG1_uc002kal.1_Silent_p.I248I|ACTG1_uc002kag.2_RNA	p.I248I	NM_001614	NP_001605	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		3	769	-	all_neural(118;0.0878)|Melanoma(429;0.242)		248					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000575842.1	37	c.744C>T	CCDS11782.1																																																																																				0.587	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2		NM_001614		50	75	0	0	0	0.01441	0	50	75		
FSCN2	25794	broad.mit.edu	37	17	79503670	79503670	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:79503670C>G	ENST00000417245.2	+	4	1264	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	FSCN2_ENST00000334850.7_Silent_p.L400L	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	376					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGTTCACCCTCAAGCTCATCA	0.701																																						uc010wup.1		NaN																	0					0						c.(1126-1128)CTC>CTG		fascin 2 isoform 1							19.0	25.0	23.0					17																	79503670		2144	4222	6366	SO:0001819	synonymous_variant	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79503670C>G	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.1128C>G	17.37:g.79503670C>G						FSCN2_uc010wuo.1_Silent_p.L400L	p.L376L	NM_012418	NP_036550	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		4	1269	+	all_neural(118;0.0878)|Melanoma(429;0.242)		376					A0AVC4|A8MRA6	Silent	SNP	ENST00000417245.2	37	c.1128C>G	CCDS45811.1																																																																																				0.701	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1		NM_012418		2	2	0	0	0	0.000602	0	2	2		
P4HB	5034	broad.mit.edu	37	17	79803467	79803467	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:79803467G>A	ENST00000331483.4	-	9	1551	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000439918.2_Silent_p.L399L|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	443	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GAAAGAACTTGAGTGTGGGGA	0.622																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1		NaN																	0					0						c.(1327-1329)CTC>CTT		prolyl 4-hydroxylase, beta subunit precursor							122.0	95.0	104.0					17																	79803467		2202	4299	6501	SO:0001819	synonymous_variant	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79803467G>A	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1329C>T	17.37:g.79803467G>A						P4HB_uc002kbl.1_Silent_p.L120L|P4HB_uc002kbm.1_Silent_p.L120L	p.L443L	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		9	1526	-	all_neural(118;0.0878)|Ovarian(332;0.12)		443			Thioredoxin 2.		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Silent	SNP	ENST00000331483.4	37	c.1329C>T	CCDS11787.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310546	0.23821	.	.	ENSG00000185624	ENST00000415593	.	.	.	5.76	-11.5	0.00074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3426	0.87301	0.0:0.2829:0.59:0.1271	.	.	.	.	X	209	.	.	Q	-	1	0	P4HB	77396756	0.091000	0.21658	0.407000	0.26434	0.867000	0.49689	-0.770000	0.04705	-1.204000	0.02648	-0.226000	0.12346	CAA		0.622	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3		NM_000918		11	11	0	0	0	0.010729	0	11	11		
DUS1L	64118	broad.mit.edu	37	17	80018633	80018633	+	Silent	SNP	C	C	T	rs150777513		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80018633C>T	ENST00000354321.7	-	9	1451	c.966G>A	c.(964-966)gcG>gcA	p.A322A	DUS1L_ENST00000306796.5_Silent_p.A322A			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	322							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGTGGGCTTCGCTCCCTCCT	0.687																																						uc002kdq.2		NaN																	0				skin(1)	1						c.(964-966)GCG>GCA		PP3111 protein		C		4,4396	6.2+/-15.9	0,4,2196	50.0	49.0	49.0		966	0.3	0.0	17	dbSNP_134	49	0,8596		0,0,4298	no	coding-synonymous	DUS1L	NM_022156.3		0,4,6494	TT,TC,CC		0.0,0.0909,0.0308		322/474	80018633	4,12992	2200	4298	6498	SO:0001819	synonymous_variant	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80018633C>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.966G>A	17.37:g.80018633C>T						DUS1L_uc002kdp.2_Silent_p.A191A|DUS1L_uc002kdr.2_Silent_p.A322A|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	p.A322A	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		9	1385	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		322					A6NHV4|Q96AI3	Silent	SNP	ENST00000354321.7	37	c.966G>A	CCDS32775.1																																																																																				0.687	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1		NM_022156		5	11	0	0	0	0.000602	0	5	11		
DUS1L	64118	broad.mit.edu	37	17	80018637	80018637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80018637C>T	ENST00000354321.7	-	9	1447	c.962G>A	c.(961-963)gGa>gAa	p.G321E	DUS1L_ENST00000306796.5_Missense_Mutation_p.G321E			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	321							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGGCTTCGCTCCCTCCTGCCT	0.692																																						uc002kdq.2		NaN																	0				skin(1)	1						c.(961-963)GGA>GAA		PP3111 protein							49.0	48.0	49.0					17																	80018637		2200	4299	6499	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80018637C>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.962G>A	17.37:g.80018637C>T	ENSP00000346280:p.Gly321Glu					DUS1L_uc002kdp.2_Missense_Mutation_p.G190E|DUS1L_uc002kdr.2_Missense_Mutation_p.G321E|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	p.G321E	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		9	1381	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		321					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.962G>A	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389718	0.25118	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T	0.29655	1.56;1.56	4.75	4.75	0.60458	.	0.569493	0.19914	N	0.103229	T	0.19046	0.0457	N	0.00926	-1.1	0.53005	D	0.999966	P;B	0.51653	0.947;0.055	P;B	0.56088	0.791;0.145	T	0.16541	-1.0399	10	0.05721	T	0.95	-11.86	17.9127	0.88939	0.0:1.0:0.0:0.0	.	321;190	Q6P1R4;Q9BTJ3	DUS1L_HUMAN;.	E	321;321;184;188	ENSP00000346280:G321E;ENSP00000303515:G321E	ENSP00000303515:G321E	G	-	2	0	DUS1L	77611926	1.000000	0.71417	0.661000	0.29709	0.222000	0.24845	2.879000	0.48522	2.467000	0.83353	0.561000	0.74099	GGA		0.692	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1		NM_022156		5	10	0	0	0	0.000602	0	5	10		
DUS1L	64118	broad.mit.edu	37	17	80019230	80019230	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80019230C>G	ENST00000354321.7	-	7	1183		c.e7-1		DUS1L_ENST00000306796.5_Splice_Site			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)								flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGGTTGCCCTCTGTGGGAGGA	0.667																																						uc002kdq.2		NaN																	0				skin(1)	1						c.e7-1		PP3111 protein							23.0	25.0	24.0					17																	80019230		2198	4295	6493	SO:0001630	splice_region_variant	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80019230C>G		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.698-1G>C	17.37:g.80019230C>G						DUS1L_uc002kdp.2_Splice_Site_p.E102_splice|DUS1L_uc002kdr.2_Splice_Site_p.E233_splice|DUS1L_uc002kds.2_Splice_Site|DUS1L_uc002kdt.2_Splice_Site|DUS1L_uc010wvi.1_Intron	p.E233_splice	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		7	1117	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)							A6NHV4|Q96AI3	Splice_Site	SNP	ENST00000354321.7	37	c.698_splice	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500663	0.26861	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	.	.	.	5.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2262	0.73354	0.0:0.8584:0.1416:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DUS1L	77612519	1.000000	0.71417	0.989000	0.46669	0.091000	0.18340	7.180000	0.77674	1.061000	0.40601	0.561000	0.74099	.		0.667	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1		NM_022156	Intron	5	24	0	0	0	0.001168	0	5	24		
WDR45B	56270	broad.mit.edu	37	17	80574488	80574488	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80574488G>A	ENST00000392325.4	-	9	1034	c.840C>T	c.(838-840)ttC>ttT	p.F280F	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	280																	ACTTGGAACTGAAGTATTTTG	0.463																																						uc002kfq.2		NaN																	0				ovary(1)	1						c.(838-840)TTC>TTT		WDR45-like							109.0	109.0	109.0					17																	80574488		2203	4300	6503	SO:0001819	synonymous_variant	56270				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chr17:80574488G>A	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.840C>T	17.37:g.80574488G>A						WDR45L_uc002kfr.2_RNA	p.F280F	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)		9	1035	-	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	280					O95328|Q2MCP6|Q6IBN2	Silent	SNP	ENST00000392325.4	37	c.840C>T	CCDS11815.2																																																																																				0.463	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1		NM_019613		27	88	0	0	0	0.005443	0	27	88		
LPIN2	9663	broad.mit.edu	37	18	2920390	2920390	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:2920390G>A	ENST00000261596.4	-	20	2830	c.2592C>T	c.(2590-2592)ctC>ctT	p.L864L	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	864					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCTCCTTACTGAGAAGGGGGA	0.537																																						uc002klo.2		NaN																	0				ovary(1)|skin(1)	2						c.(2590-2592)CTC>CTT		lipin 2							54.0	50.0	51.0					18																	2920390		2203	4300	6503	SO:0001819	synonymous_variant	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2920390G>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2592C>T	18.37:g.2920390G>A							p.L864L	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	20	2831	-			864					A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	37	c.2592C>T	CCDS11829.1																																																																																				0.537	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2		NM_014646		17	28	0	0	0	0.007413	0	17	28		
DLGAP1	9229	broad.mit.edu	37	18	3814113	3814113	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:3814113C>T	ENST00000315677.3	-	5	1713	c.1118G>A	c.(1117-1119)aGa>aAa	p.R373K	DLGAP1_ENST00000581527.1_Missense_Mutation_p.R373K|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R71K|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R81K|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R373K|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R71K|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R79K|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R373K|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R85K|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R79K|snoU13_ENST00000459060.1_RNA|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R79K|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R71K	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	373					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATAGCTTTCTCTCCGCGCAGC	0.507																																						uc002kmf.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1117-1119)AGA>AAA		discs large homolog-associated protein 1 isoform							163.0	149.0	153.0					18																	3814113		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3814113C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1118G>A	18.37:g.3814113C>T	ENSP00000316377:p.Arg373Lys					DLGAP1_uc010wyz.1_Missense_Mutation_p.R373K|DLGAP1_uc002kme.1_Missense_Mutation_p.R71K|DLGAP1_uc010dkn.2_Missense_Mutation_p.R71K|DLGAP1_uc010wyw.1_Missense_Mutation_p.R79K|DLGAP1_uc010wyx.1_Missense_Mutation_p.R85K|DLGAP1_uc010wyy.1_Missense_Mutation_p.R85K|DLGAP1_uc002kmg.2_Missense_Mutation_p.R71K|DLGAP1_uc002kmk.2_Missense_Mutation_p.R373K	p.R373K	NM_004746	NP_004737	O14490	DLGP1_HUMAN			2	1185	-		Colorectal(8;0.0257)	373					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.1118G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706153	0.89018	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.96	5.96	0.96718	.	.	.	.	.	T	0.48295	0.1492	M	0.79693	2.465	0.80722	D	1	D;D;D;D;D;D;D;P;D	0.89917	0.994;0.994;1.0;0.995;1.0;0.997;0.996;0.942;1.0	D;D;D;D;D;D;D;P;D	0.91635	0.97;0.97;0.997;0.978;0.997;0.99;0.987;0.638;0.999	T	0.40440	-0.9563	9	0.56958	D	0.05	-17.6883	20.422	0.99049	0.0:1.0:0.0:0.0	.	373;85;59;79;71;373;71;373;71	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;Q6IS01;O14490-3;O14490;O14490-2	.;.;.;.;.;.;.;DLGP1_HUMAN;.	K	373;71;79;81;79;85;71;71;373	ENSP00000316377:R373K;ENSP00000383011:R71K;ENSP00000383014:R79K;ENSP00000383013:R81K;ENSP00000383019:R79K;ENSP00000437817:R85K;ENSP00000446312:R71K;ENSP00000383010:R71K;ENSP00000445973:R373K	ENSP00000316377:R373K	R	-	2	0	DLGAP1	3804113	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.981000	0.70524	2.832000	0.97577	0.655000	0.94253	AGA		0.507	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4				51	33	0	0	0	0.01441	0	51	33		
MTCL1	23255	broad.mit.edu	37	18	8824703	8824703	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:8824703G>A	ENST00000306329.11	+	13	4152	c.4152G>A	c.(4150-4152)gtG>gtA	p.V1384V	SOGA2_ENST00000518815.1_Silent_p.V390V|SOGA2_ENST00000400050.3_Silent_p.V1024V|SOGA2_ENST00000517570.1_Silent_p.V1024V|SOGA2_ENST00000359865.3_Silent_p.V1065V|SOGA2_ENST00000306285.7_Silent_p.V390V																							CCAGGGCGGTGTCCGTGTCCT	0.587																																						uc002knr.2		NaN																	0					0						c.(3193-3195)GTG>GTA		hypothetical protein LOC23255							73.0	49.0	57.0					18																	8824703		2203	4300	6503	SO:0001819	synonymous_variant	23255							g.chr18:8824703G>A																												ENST00000306329.11:c.4152G>A	18.37:g.8824703G>A						KIAA0802_uc002knq.2_Silent_p.V1024V|KIAA0802_uc002kns.2_Silent_p.V405V	p.V1065V	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			15	3337	+			1375						Silent	SNP	ENST00000306329.11	37	c.3195G>A																																																																																					0.587	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1				15	8	0	0	0	0.003163	0	15	8		
RALBP1	10928	broad.mit.edu	37	18	9522255	9522255	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:9522255G>A	ENST00000019317.4	+	4	1024	c.801G>A	c.(799-801)ctG>ctA	p.L267L	RP11-61L19.3_ENST00000609094.1_RNA|RALBP1_ENST00000383432.3_Silent_p.L267L			Q15311	RBP1_HUMAN	ralA binding protein 1	267	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	CCAGTTTGCTGAAGCAGTATT	0.463																																						uc002kob.2		NaN																	0				central_nervous_system(1)	1						c.(799-801)CTG>CTA		ralA binding protein 1							82.0	80.0	80.0					18																	9522255		2203	4300	6503	SO:0001819	synonymous_variant	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9522255G>A	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.801G>A	18.37:g.9522255G>A						RALBP1_uc002koc.2_Silent_p.L267L	p.L267L	NM_006788	NP_006779	Q15311	RBP1_HUMAN			4	1024	+			267			Rho-GAP.		D3DUI0	Silent	SNP	ENST00000019317.4	37	c.801G>A	CCDS11845.1																																																																																				0.463	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1		NM_006788		16	53	0	0	0	0.00499	0	16	53		
RBBP8	5932	broad.mit.edu	37	18	20606179	20606179	+	Silent	SNP	A	A	C	rs377528521		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:20606179A>C	ENST00000399722.2	+	19	3021	c.2670A>C	c.(2668-2670)ccA>ccC	p.P890P	RBBP8_ENST00000581687.1_Silent_p.P68P|Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000399725.2_Missense_Mutation_p.Q858P|RBBP8_ENST00000327155.5_Silent_p.P890P|RBBP8_ENST00000360790.5_Silent_p.P895P	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	890					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TATTTTCTCCAAAAGGCAAGG	0.348								Homologous recombination																														uc002ktw.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(2668-2670)CCA>CCC	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a							99.0	90.0	93.0					18																	20606179		2203	4300	6503	SO:0001819	synonymous_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20606179A>C	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2670A>C	18.37:g.20606179A>C						RBBP8_uc002kty.2_Silent_p.P890P|RBBP8_uc002ktz.2_Missense_Mutation_p.Q858P|RBBP8_uc002kua.2_Silent_p.P895P|RBBP8_uc010xap.1_Silent_p.P228P	p.P890P	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		19	3001	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		890					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.2670A>C	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.320464	0.23994	.	.	ENSG00000101773	ENST00000399725;ENST00000399721	T	0.31769	1.48	5.64	3.26	0.37387	.	.	.	.	.	T	0.44456	0.1294	.	.	.	0.80722	D	1	D	0.67145	0.996	P	0.58721	0.844	T	0.23904	-1.0175	7	.	.	.	-1.6705	9.349	0.38126	0.8552:0.0:0.1448:0.0	.	858	A6NKN2	.	P	858	ENSP00000382630:Q858P	.	Q	+	2	0	RBBP8	18860177	0.249000	0.23941	0.980000	0.43619	0.877000	0.50540	-0.377000	0.07456	0.428000	0.26173	0.533000	0.62120	CAA		0.348	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1		NM_203291		30	21	0	0	0	0.012213	0	30	21		
NPC1	4864	broad.mit.edu	37	18	21148935	21148935	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:21148935C>T	ENST00000269228.5	-	4	869	c.315G>A	c.(313-315)ctG>ctA	p.L105L	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	105					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACAGGTTCAGTAGGTTAT	0.368																																						uc002kum.3		NaN																	0				ovary(2)	2						c.(313-315)CTG>CTA		Niemann-Pick disease, type C1 precursor							88.0	81.0	83.0					18																	21148935		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21148935C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.315G>A	18.37:g.21148935C>T						NPC1_uc010xba.1_5'UTR	p.L105L	NM_000271	NP_000262	O15118	NPC1_HUMAN			4	589	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		105					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.315G>A	CCDS11878.1																																																																																				0.368	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2		NM_000271		20	50	0	0	0	0.007413	0	20	50		
LAMA3	3909	broad.mit.edu	37	18	21479265	21479265	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:21479265G>C	ENST00000313654.9	+	47	6091	c.5850G>C	c.(5848-5850)caG>caC	p.Q1950H	LAMA3_ENST00000587184.1_Intron|LAMA3_ENST00000399516.3_Intron|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q341H|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1950	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTTTAAAGCAGATCTCTGGGA	0.458																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(5848-5850)CAG>CAC		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39.0	36.0	37.0					18																	21479265		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21479265G>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5850G>C	18.37:g.21479265G>C	ENSP00000324532:p.Gln1950His					LAMA3_uc002kur.2_Intron|LAMA3_uc002kus.3_Missense_Mutation_p.Q341H|LAMA3_uc002kut.3_Intron	p.Q1950H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			47	5936	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1950			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.5850G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671728	0.29693	.	.	ENSG00000053747	ENST00000313654;ENST00000269217	T;T	0.11385	2.78;2.78	5.91	4.12	0.48240	Laminin I (1);	.	.	.	.	T	0.11836	0.0288	L	0.46157	1.445	0.80722	D	1	B;B	0.22541	0.032;0.071	B;B	0.28553	0.031;0.091	T	0.04467	-1.0949	9	0.66056	D	0.02	.	9.0639	0.36451	0.1299:0.0:0.7483:0.1218	.	341;1950	B0YJ33;Q16787	.;LAMA3_HUMAN	H	1950;341	ENSP00000324532:Q1950H;ENSP00000269217:Q341H	ENSP00000269217:Q341H	Q	+	3	2	LAMA3	19733263	1.000000	0.71417	0.959000	0.39883	0.535000	0.34838	3.136000	0.50554	0.828000	0.34709	0.650000	0.86243	CAG		0.458	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		11	30	0	0	0	0.013537	0	11	30		
TAF4B	6875	broad.mit.edu	37	18	23866219	23866219	+	Missense_Mutation	SNP	C	C	T	rs200874472		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:23866219C>T	ENST00000269142.5	+	7	2344	c.1346C>T	c.(1345-1347)tCa>tTa	p.S449L	TAF4B_ENST00000578121.1_Missense_Mutation_p.S449L|TAF4B_ENST00000400466.2_Missense_Mutation_p.S449L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	449					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACCACGGTCTCACTGCAACCT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		22767	0.0		0.001	False		,,,				2504	0.0					uc002kvu.3		NaN																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(1345-1347)TCA>TTA		TAF4b RNA polymerase II, TATA box binding							59.0	56.0	57.0					18																	23866219		1939	4155	6094	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23866219C>T	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1346C>T	18.37:g.23866219C>T	ENSP00000269142:p.Ser449Leu					TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.S449L	p.S449L	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		7	1835	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		449					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1346C>T	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	C	7.903	0.734820	0.15574	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.27890	1.64;1.82;1.64	5.52	5.52	0.82312	.	0.481389	0.21909	N	0.067331	T	0.29061	0.0722	L	0.29908	0.895	0.22842	N	0.998667	P;D	0.54047	0.919;0.964	B;P	0.45310	0.253;0.476	T	0.13202	-1.0518	10	0.31617	T	0.26	-4.503	17.2054	0.86916	0.0:1.0:0.0:0.0	.	449;449	Q92750;A4PBF7	TAF4B_HUMAN;.	L	449	ENSP00000389365:S449L;ENSP00000269142:S449L;ENSP00000383314:S449L	ENSP00000269142:S449L	S	+	2	0	TAF4B	22120217	0.022000	0.18835	0.343000	0.25615	0.055000	0.15305	3.083000	0.50136	2.599000	0.87857	0.557000	0.71058	TCA		0.488	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3		NM_005640		25	37	0	0	0	0.00333	0	25	37		
TTR	7276	broad.mit.edu	37	18	29171903	29171903	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:29171903G>A	ENST00000237014.3	+	1	215	c.38G>A	c.(37-39)gGa>gAa	p.G13E		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	13					extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGCCTTGCTGGACTGGTATTT	0.493																																						uc002kwx.3		NaN																	0				ovary(1)	1						c.(37-39)GGA>GAA		transthyretin precursor	Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)						204.0	156.0	172.0					18																	29171903		2203	4300	6503	SO:0001583	missense	7276				transport	cytoplasm	hormone activity	g.chr18:29171903G>A	M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"""prealbumin, amyloidosis type I"", ""carpal tunnel syndrome 1"""	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.38G>A	18.37:g.29171903G>A	ENSP00000237014:p.Gly13Glu						p.G13E	NM_000371	NP_000362	P02766	TTHY_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00523)		1	174	+			13					Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	ENST00000237014.3	37	c.38G>A	CCDS11899.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232739	0.58777	.	.	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.95588	-3.75	5.85	4.93	0.64822	.	0.431991	0.25467	N	0.030469	D	0.97043	0.9034	M	0.87456	2.885	0.34927	D	0.748972	D	0.69078	0.997	P	0.60173	0.87	D	0.98427	1.0580	10	0.42905	T	0.14	-18.7351	10.3856	0.44138	0.0:0.1446:0.7058:0.1496	.	13	P02766	TTHY_HUMAN	E	13	ENSP00000237014:G13E	ENSP00000237014:G13E	G	+	2	0	TTR	27425901	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.073000	0.41519	2.777000	0.95525	0.585000	0.79938	GGA		0.493	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254948.1		NM_000371		17	31	0	0	0	0.006122	0	17	31		
TRAPPC8	22878	broad.mit.edu	37	18	29419348	29419348	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:29419348C>T	ENST00000283351.4	-	27	4245	c.3910G>A	c.(3910-3912)Gag>Aag	p.E1304K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E1250K	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1304					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAAGCTGCTCTACTGATGGC	0.348																																						uc002kxc.3		NaN																	0					0						c.(3910-3912)GAG>AAG		hypothetical protein LOC22878							129.0	136.0	133.0					18																	29419348		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29419348C>T	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3910G>A	18.37:g.29419348C>T	ENSP00000283351:p.Glu1304Lys					KIAA1012_uc002kxb.3_Missense_Mutation_p.E1250K|KIAA1012_uc002kxd.3_RNA	p.E1304K	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			27	4274	-			1304					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.3910G>A	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049194	0.55110	.	.	ENSG00000153339	ENST00000283351	T	0.17213	2.29	5.29	5.29	0.74685	.	0.107594	0.64402	D	0.000010	T	0.31857	0.0810	L	0.53249	1.67	0.80722	D	1	P	0.48640	0.913	P	0.53490	0.727	T	0.00491	-1.1708	10	0.34782	T	0.22	.	19.2953	0.94119	0.0:1.0:0.0:0.0	.	1304	Q9Y2L5	TPPC8_HUMAN	K	1304	ENSP00000283351:E1304K	ENSP00000283351:E1304K	E	-	1	0	TRAPPC8	27673346	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.760000	0.55235	2.628000	0.89032	0.655000	0.94253	GAG		0.348	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1		NM_014939		27	56	0	0	0	0.004656	0	27	56		
RNF125	54941	broad.mit.edu	37	18	29617112	29617112	+	Silent	SNP	G	G	A	rs200392437		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:29617112G>A	ENST00000217740.3	+	2	690	c.198G>A	c.(196-198)aaG>aaA	p.K66K	RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	66					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CCAGTCTAAAGAACAACAAGT	0.423																																						uc002kxf.1		NaN																	0					0						c.(196-198)AAG>AAA		ring finger protein 125							332.0	305.0	314.0					18																	29617112		2203	4300	6503	SO:0001819	synonymous_variant	54941				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding	g.chr18:29617112G>A	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.198G>A	18.37:g.29617112G>A							p.K66K	NM_017831	NP_060301	Q96EQ8	RN125_HUMAN			2	580	+			66			RING-type.		Q9NX39	Silent	SNP	ENST00000217740.3	37	c.198G>A	CCDS11902.1																																																																																				0.423	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255354.1		NM_017831		83	147	0	0	0	0.01441	0	83	147		
NOL4	8715	broad.mit.edu	37	18	31523073	31523073	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:31523073C>T	ENST00000261592.5	-	9	1795	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.E215K|NOL4_ENST00000535475.1_Missense_Mutation_p.E281K|NOL4_ENST00000538587.1_Missense_Mutation_p.E426K|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	500						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.E500*(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTTCTACTCTCACTCTCACAA	0.428																																						uc010dmi.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(1498-1500)GAG>AAG		nucleolar protein 4							103.0	93.0	96.0					18																	31523073		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31523073C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1498G>A	18.37:g.31523073C>T	ENSP00000261592:p.Glu500Lys					NOL4_uc010xbs.1_Missense_Mutation_p.E215K|NOL4_uc002kxr.3_Missense_Mutation_p.E272K|NOL4_uc010xbt.1_Missense_Mutation_p.E426K|NOL4_uc010dmh.2_Missense_Mutation_p.E362K|NOL4_uc010xbu.1_Missense_Mutation_p.E436K|NOL4_uc002kxt.3_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.E185K	p.E500K	NM_003787	NP_003778	O94818	NOL4_HUMAN			9	1727	-			500					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1498G>A	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	33	5.241964	0.95272	.	.	ENSG00000101746	ENST00000261592;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	M	0.69358	2.11	0.24039	N	0.996089	D;D;D;D;D;D	0.76494	0.996;0.994;0.999;0.998;0.994;0.996	D;P;D;D;P;D	0.77557	0.987;0.904;0.972;0.99;0.904;0.968	T	0.66340	-0.5948	9	0.72032	D	0.01	-21.2761	20.2049	0.98273	0.0:1.0:0.0:0.0	.	185;215;426;500;215;281	F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;B3KRF4	.;.;.;NOL4_HUMAN;.;.	K	500;185;215;281;426	.	ENSP00000261592:E500K	E	-	1	0	NOL4	29777071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.830000	0.75319	2.772000	0.95346	0.650000	0.86243	GAG		0.428	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1		NM_003787		21	32	0	0	0	0.010504	0	21	32		
DTNA	1837	broad.mit.edu	37	18	32391936	32391936	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:32391936G>A	ENST00000399113.3	+	5	462	c.462G>A	c.(460-462)atG>atA	p.M154I	DTNA_ENST00000598142.1_Missense_Mutation_p.M154I|DTNA_ENST00000554864.3_Missense_Mutation_p.M154I|DTNA_ENST00000399121.5_Missense_Mutation_p.M154I|DTNA_ENST00000597599.1_Missense_Mutation_p.M154I|DTNA_ENST00000315456.6_Missense_Mutation_p.M154I|DTNA_ENST00000595022.1_Missense_Mutation_p.M154I|DTNA_ENST00000269191.6_Missense_Mutation_p.M154I|DTNA_ENST00000598334.1_Missense_Mutation_p.M154I|DTNA_ENST00000596745.1_Missense_Mutation_p.M154I|DTNA_ENST00000348997.5_Missense_Mutation_p.M154I|DTNA_ENST00000283365.9_Missense_Mutation_p.M154I|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269190.7_Missense_Mutation_p.M154I|DTNA_ENST00000598774.1_Missense_Mutation_p.M154I|DTNA_ENST00000444659.1_Missense_Mutation_p.M154I			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	154	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTTCTCAATGATTTCTGACT	0.368																																						uc010dmn.1		NaN																	0					0						c.(460-462)ATG>ATA		dystrobrevin alpha isoform 1							102.0	99.0	100.0					18																	32391936		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32391936G>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.462G>A	18.37:g.32391936G>A	ENSP00000382064:p.Met154Ile					DTNA_uc002kxu.2_Missense_Mutation_p.M154I|DTNA_uc010xbx.1_Missense_Mutation_p.M154I|DTNA_uc002kxv.3_Missense_Mutation_p.M154I|DTNA_uc002kxw.2_Missense_Mutation_p.M154I|DTNA_uc002kxx.2_Missense_Mutation_p.M154I|DTNA_uc010dmj.2_Missense_Mutation_p.M154I|DTNA_uc002kxz.2_Missense_Mutation_p.M154I|DTNA_uc002kxy.2_Missense_Mutation_p.M154I|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.M154I|DTNA_uc002kyb.3_Missense_Mutation_p.M154I|DTNA_uc010dmm.2_Missense_Mutation_p.M154I	p.M154I	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			5	463	+			154			Interaction with MAGEE1 (By similarity).		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.462G>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966059	0.74131	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.8	5.8	0.92144	EF-hand domain, type 2 (1);EF-hand-like domain (1);	0.097518	0.64402	D	0.000001	T	0.54598	0.1868	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B	0.31274	0.13;0.146;0.317;0.001;0.017;0.168;0.001;0.037;0.037;0.017;0.107;0.03	B;B;B;B;B;B;B;B;B;B;B;B	0.33454	0.067;0.124;0.164;0.02;0.062;0.069;0.003;0.103;0.043;0.043;0.059;0.026	T	0.60762	-0.7199	10	0.72032	D	0.01	-19.8468	20.0522	0.97631	0.0:0.0:1.0:0.0	.	154;154;154;154;154;154;154;165;154;154;154;154	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	I	154	ENSP00000283365:M154I;ENSP00000322519:M154I;ENSP00000269190:M154I;ENSP00000336682:M154I;ENSP00000382072:M154I;ENSP00000405819:M154I;ENSP00000269191:M154I;ENSP00000382064:M154I	ENSP00000269190:M154I	M	+	3	0	DTNA	30645934	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.625000	0.67770	2.737000	0.93849	0.563000	0.77884	ATG		0.368	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2		NM_001390		21	43	0	0	0	0.00333	0	21	43		
ELP2	55250	broad.mit.edu	37	18	33722249	33722249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:33722249G>C	ENST00000358232.6	+	7	657	c.594G>C	c.(592-594)caG>caC	p.Q198H	ELP2_ENST00000351393.6_Missense_Mutation_p.Q172H|ELP2_ENST00000423854.2_Intron|ELP2_ENST00000542824.1_Missense_Mutation_p.Q172H|ELP2_ENST00000442325.2_Missense_Mutation_p.Q263H|ELP2_ENST00000350494.6_Missense_Mutation_p.Q237H	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	198					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ACTAGTTTCAGAAAGTGCTTT	0.398																																						uc002kzk.1		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(592-594)CAG>CAC		elongator protein 2							169.0	162.0	165.0					18																	33722249		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33722249G>C	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.594G>C	18.37:g.33722249G>C	ENSP00000350967:p.Gln198His					ELP2_uc010xcg.1_Missense_Mutation_p.Q263H|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.Q172H|ELP2_uc010xch.1_Missense_Mutation_p.Q237H|ELP2_uc002kzn.1_Missense_Mutation_p.Q172H|ELP2_uc002kzo.1_Intron	p.Q198H	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			7	604	+			198			WD 4.		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.594G>C	CCDS11918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.63|12.63	1.994972|1.994972	0.35226|0.35226	.|.	.|.	ENSG00000134759|ENSG00000134759	ENST00000543127;ENST00000358232;ENST00000351393;ENST00000442325;ENST00000350494;ENST00000542824|ENST00000535093	T;T;T;T;T|.	0.67171|.	-0.25;2.15;0.96;-0.02;-0.25|.	5.7|5.7	3.83|3.83	0.44106|0.44106	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.113287|.	0.64402|.	D|.	0.000008|.	T|T	0.46444|0.46444	0.1393|0.1393	L|L	0.41415|0.41415	1.275|1.275	0.53005|0.53005	D|D	0.999964|0.999964	B;B;B;B;B|.	0.15719|.	0.014;0.013;0.004;0.001;0.005|.	B;B;B;B;B|.	0.24848|.	0.056;0.056;0.014;0.012;0.023|.	T|T	0.34153|0.34153	-0.9840|-0.9840	10|5	0.41790|.	T|.	0.15|.	-5.2739|-5.2739	5.2946|5.2946	0.15745|0.15745	0.0825:0.1424:0.6284:0.1466|0.0825:0.1424:0.6284:0.1466	.|.	237;263;172;172;198|.	B4DTG0;E7EP23;Q6IA86-2;Q6IA86-3;Q6IA86|.	.;.;.;.;ELP2_HUMAN|.	H|T	49;198;172;263;237;172|19	ENSP00000350967:Q198H;ENSP00000257191:Q172H;ENSP00000414851:Q263H;ENSP00000316051:Q237H;ENSP00000443800:Q172H|.	ENSP00000316051:Q237H|.	Q|R	+|+	3|2	2|0	ELP2|ELP2	31976247|31976247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	1.910000|1.910000	0.39927|0.39927	2.687000|2.687000	0.91594|0.91594	0.557000|0.557000	0.71058|0.71058	CAG|AGA		0.398	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2		NM_018255		30	60	0	0	0	0.008361	0	30	60		
ELP2	55250	broad.mit.edu	37	18	33722792	33722792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:33722792G>C	ENST00000358232.6	+	8	722	c.659G>C	c.(658-660)aGa>aCa	p.R220T	ELP2_ENST00000351393.6_Missense_Mutation_p.R194T|ELP2_ENST00000423854.2_Missense_Mutation_p.R150T|ELP2_ENST00000542824.1_Missense_Mutation_p.R194T|ELP2_ENST00000442325.2_Missense_Mutation_p.R285T|ELP2_ENST00000350494.6_Missense_Mutation_p.R259T	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	220					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TAATTAGGTAGAGATCTTTTC	0.264																																						uc002kzk.1		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(658-660)AGA>ACA		elongator protein 2							42.0	44.0	44.0					18																	33722792		2195	4289	6484	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33722792G>C	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.659G>C	18.37:g.33722792G>C	ENSP00000350967:p.Arg220Thr					ELP2_uc010xcg.1_Missense_Mutation_p.R285T|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.R194T|ELP2_uc010xch.1_Missense_Mutation_p.R259T|ELP2_uc002kzn.1_Missense_Mutation_p.R194T|ELP2_uc002kzo.1_Missense_Mutation_p.R150T	p.R220T	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			8	669	+			220			WD 5.		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.659G>C	CCDS11918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.169|9.169	1.020729|1.020729	0.19433|0.19433	.|.	.|.	ENSG00000134759|ENSG00000134759	ENST00000535093|ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.|T;T;T;T;T;T	.|0.65178	.|-0.14;0.4;1.1;0.94;-0.04;-0.14	5.17|5.17	0.234|0.234	0.15390|0.15390	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.429079	.|0.27846	.|N	.|0.017610	T|T	0.37732|0.37732	0.1014|0.1014	N|N	0.10972|0.10972	0.075|0.075	0.30483|0.30483	N|N	0.772177|0.772177	.|B;B;B;B;B;B	.|0.17465	.|0.002;0.001;0.011;0.0;0.001;0.022	.|B;B;B;B;B;B	.|0.23852	.|0.027;0.027;0.026;0.004;0.001;0.049	T|T	0.26503|0.26503	-1.0101|-1.0101	5|10	.|0.27082	.|T	.|0.32	0.0577|0.0577	8.9371|8.9371	0.35706|0.35706	0.5063:0.0:0.4937:0.0|0.5063:0.0:0.4937:0.0	.|.	.|259;285;150;194;194;220	.|B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.|.;.;.;.;.;ELP2_HUMAN	Q|T	41|220;194;285;150;259;194	.|ENSP00000350967:R220T;ENSP00000257191:R194T;ENSP00000414851:R285T;ENSP00000391202:R150T;ENSP00000316051:R259T;ENSP00000443800:R194T	.|ENSP00000316051:R259T	E|R	+|+	1|2	0|0	ELP2|ELP2	31976790|31976790	0.999000|0.999000	0.42202|0.42202	0.958000|0.958000	0.39756|0.39756	0.864000|0.864000	0.49448|0.49448	0.921000|0.921000	0.28718|0.28718	0.030000|0.030000	0.15379|0.15379	-0.424000|-0.424000	0.05967|0.05967	GAG|AGA		0.264	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2		NM_018255		23	45	0	0	0	0.003954	0	23	45		
PSTPIP2	9050	broad.mit.edu	37	18	43571884	43571884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:43571884C>T	ENST00000409746.5	-	12	975	c.904G>A	c.(904-906)Ggg>Agg	p.G302R	PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Silent_p.Q269Q|RN7SKP26_ENST00000410247.1_RNA	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	302						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						AAGTTAGGCCCTGTAGCCTTT	0.408																																						uc002lbp.3		NaN																	0				ovary(1)	1						c.(904-906)GGG>AGG		proline-serine-threonine phosphatase interacting							105.0	101.0	102.0					18																	43571884		2203	4300	6503	SO:0001583	missense	9050					membrane		g.chr18:43571884C>T		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.904G>A	18.37:g.43571884C>T	ENSP00000387261:p.Gly302Arg					PSTPIP2_uc002lbq.3_Silent_p.Q269Q	p.G302R	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN			12	1000	-			302						Missense_Mutation	SNP	ENST00000409746.5	37	c.904G>A	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833682	0.71258	.	.	ENSG00000152229	ENST00000409746	T	0.35236	1.32	5.54	5.54	0.83059	.	0.372077	0.28156	N	0.016390	T	0.46210	0.1381	M	0.64997	1.995	0.20764	N	0.999855	P	0.51653	0.947	P	0.52189	0.692	T	0.41288	-0.9517	10	0.17369	T	0.5	.	15.3472	0.74346	0.0:1.0:0.0:0.0	.	302	Q9H939	PPIP2_HUMAN	R	302	ENSP00000387261:G302R	ENSP00000387261:G302R	G	-	1	0	PSTPIP2	41825882	0.237000	0.23815	0.019000	0.16419	0.163000	0.22366	3.880000	0.56145	2.764000	0.94973	0.650000	0.86243	GGG		0.408	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1				17	28	0	0	0	0.004007	0	17	28		
ATP8B1	5205	broad.mit.edu	37	18	55362485	55362485	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:55362485A>C	ENST00000283684.4	-	9	857	c.858T>G	c.(856-858)ttT>ttG	p.F286L	ATP8B1_ENST00000536015.1_Missense_Mutation_p.F286L|ATP8B1_ENST00000589147.1_5'Flank|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	286					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CATCCAAAGGAAAACTTGTGT	0.343																																						uc002lgw.2		NaN																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(856-858)TTT>TTG		ATPase, class I, type 8B, member 1							91.0	91.0	91.0					18																	55362485		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55362485A>C	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.858T>G	18.37:g.55362485A>C	ENSP00000283684:p.Phe286Leu					uc002lgv.1_Intron	p.F286L	NM_005603	NP_005594	O43520	AT8B1_HUMAN			9	858	-		Colorectal(73;0.229)	286			Cytoplasmic (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.858T>G	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.973145	0.34848	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.74209	-0.82;-0.82	5.7	-0.449	0.12226	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.111150	0.64402	D	0.000007	T	0.51941	0.1704	N	0.04820	-0.15	0.31162	N	0.704202	B	0.21225	0.053	B	0.30716	0.119	T	0.50915	-0.8771	10	0.33940	T	0.23	.	10.7338	0.46113	0.5149:0.0:0.4851:0.0	.	286	O43520	AT8B1_HUMAN	L	286	ENSP00000283684:F286L;ENSP00000445359:F286L	ENSP00000283684:F286L	F	-	3	2	ATP8B1	53513483	0.033000	0.19621	0.981000	0.43875	0.313000	0.28021	0.022000	0.13511	0.119000	0.18210	-0.290000	0.09829	TTT		0.343	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1		NM_005603		20	47	0	0	0	0.012319	0	20	47		
ATP8B1	5205	broad.mit.edu	37	18	55368508	55368508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:55368508G>A	ENST00000283684.4	-	4	430	c.431C>T	c.(430-432)aCa>aTa	p.T144I	ATP8B1_ENST00000536015.1_Missense_Mutation_p.T144I|ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	144					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GGGCACTAGTGTGGTGTACCA	0.463																																						uc002lgw.2		NaN																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(430-432)ACA>ATA		ATPase, class I, type 8B, member 1							151.0	137.0	142.0					18																	55368508		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55368508G>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.431C>T	18.37:g.55368508G>A	ENSP00000283684:p.Thr144Ile					uc002lgv.1_Intron	p.T144I	NM_005603	NP_005594	O43520	AT8B1_HUMAN			4	431	-		Colorectal(73;0.229)	144			Helical; (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.431C>T	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394621	0.62066	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.88975	-2.45;-2.45	5.13	5.13	0.70059	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.103459	0.64402	D	0.000003	D	0.94335	0.8179	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.94697	0.7879	10	0.72032	D	0.01	.	18.5863	0.91191	0.0:0.0:1.0:0.0	.	144	O43520	AT8B1_HUMAN	I	144	ENSP00000283684:T144I;ENSP00000445359:T144I	ENSP00000283684:T144I	T	-	2	0	ATP8B1	53519506	1.000000	0.71417	0.966000	0.40874	0.111000	0.19643	7.870000	0.87175	2.572000	0.86782	0.558000	0.71614	ACA		0.463	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1		NM_005603		12	27	0	0	0	0.013537	0	12	27		
BCL2	596	broad.mit.edu	37	18	60985642	60985642	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:60985642G>A	ENST00000398117.1	-	1	1719	c.258C>T	c.(256-258)ctC>ctT	p.L86L	BCL2_ENST00000589955.1_Silent_p.L86L|BCL2_ENST00000444484.1_Silent_p.L86L|BCL2_ENST00000333681.4_Silent_p.L86L	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	86					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GCACCGGGCTGAGCGCAggcc	0.771			T	IGH@	"""NHL, CLL"""																																	uc002lit.1		NaN		Dom	yes		18	18q21.3	596	T	B-cell CLL/lymphoma 2			L	IGH@		NHL|CLL		0				central_nervous_system(1)	1						c.(256-258)CTC>CTT		B-cell lymphoma protein 2 alpha isoform	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)						12.0	16.0	15.0					18																	60985642		2175	4259	6434	SO:0001819	synonymous_variant	596				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	g.chr18:60985642G>A	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	990	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 50"""	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.258C>T	18.37:g.60985642G>A						BCL2_uc002liu.1_Silent_p.L86L|BCL2_uc002liv.1_Silent_p.L86L	p.L86L	NM_000633	NP_000624	P10415	BCL2_HUMAN		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	2	751	-		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)	86					C9JHD5|P10416|Q13842|Q16197	Silent	SNP	ENST00000398117.1	37	c.258C>T	CCDS11981.1																																																																																				0.771	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1		NM_000633, NM_000657		3	6	0	0	0	0.004672	0	3	6		
SERPINB8	5271	broad.mit.edu	37	18	61647081	61647081	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:61647081C>T	ENST00000397985.2	+	3	471	c.215C>T	c.(214-216)tCa>tTa	p.S72L	HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.S72L|SERPINB8_ENST00000353706.2_Missense_Mutation_p.S72L|SERPINB8_ENST00000542677.1_5'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	72					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GGTTTCCAGTCACTTCTCAGT	0.428											OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ljv.2		NaN																	0				skin(1)	1						c.(214-216)TCA>TTA		serine (or cysteine) proteinase inhibitor, clade							163.0	158.0	160.0					18																	61647081		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61647081C>T	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.215C>T	18.37:g.61647081C>T	ENSP00000381072:p.Ser72Leu		OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1055	SERPINB8_uc002ljs.1_Missense_Mutation_p.S72L|SERPINB8_uc002ljt.2_Missense_Mutation_p.S72L|SERPINB8_uc002lju.2_Missense_Mutation_p.S72L|SERPINB8_uc010xex.1_5'UTR	p.S72L	NM_198833	NP_942130	P50452	SPB8_HUMAN			3	384	+		Esophageal squamous(42;0.129)	72					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.215C>T	CCDS11991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.126|5.126	0.208931|0.208931	0.09757|0.09757	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000295211|ENST00000397985;ENST00000353706;ENST00000397988;ENST00000448851;ENST00000441827	.|D;D;D;D;D	.|0.84660	.|-1.88;-1.88;-1.88;-1.88;-1.88	4.75|4.75	3.88|3.88	0.44766|0.44766	.|Serpin domain (3);	.|0.546816	.|0.20944	.|N	.|0.082869	T|T	0.77791|0.77791	0.4183|0.4183	L|L	0.45228|0.45228	1.405|1.405	0.21416|0.21416	N|N	0.999691|0.999691	.|B;B	.|0.24963	.|0.115;0.104	.|B;B	.|0.22152	.|0.026;0.038	T|T	0.65990|0.65990	-0.6034|-0.6034	5|10	.|0.36615	.|T	.|0.2	.|.	8.6453|8.6453	0.34003|0.34003	0.1508:0.7677:0.0:0.0815|0.1508:0.7677:0.0:0.0815	.|.	.|72;72	.|P50452;Q8N178	.|SPB8_HUMAN;.	Y|L	14|72	.|ENSP00000381072:S72L;ENSP00000331368:S72L;ENSP00000381075:S72L;ENSP00000414580:S72L;ENSP00000393456:S72L	.|ENSP00000331368:S72L	H|S	+|+	1|2	0|0	SERPINB8|SERPINB8	59798061|59798061	0.000000|0.000000	0.05858|0.05858	0.241000|0.241000	0.24154|0.24154	0.023000|0.023000	0.10783|0.10783	0.053000|0.053000	0.14184|0.14184	1.223000|1.223000	0.43536|0.43536	0.591000|0.591000	0.81541|0.81541	CAC|TCA		0.428	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1		NM_001031848		38	70	0	0	0	0.004289	0	38	70		
RTTN	25914	broad.mit.edu	37	18	67715352	67715352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:67715352G>A	ENST00000255674.6	-	40	5682	c.5396C>T	c.(5395-5397)tCt>tTt	p.S1799F	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1799					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAAGAGAACAGAAAGGAATTG	0.448																																						uc002lkp.2		NaN																	0				ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(5395-5397)TCT>TTT		rotatin							112.0	115.0	114.0					18																	67715352		1990	4177	6167	SO:0001583	missense	25914						binding	g.chr18:67715352G>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5396C>T	18.37:g.67715352G>A	ENSP00000255674:p.Ser1799Phe					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.S887F|RTTN_uc010dqp.2_Missense_Mutation_p.S51F	p.S1799F	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			40	5464	-		Esophageal squamous(42;0.129)	1799					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.5396C>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185538	0.57909	.	.	ENSG00000176225	ENST00000255674	T	0.55930	0.49	5.91	5.01	0.66863	.	0.543494	0.21067	N	0.080740	T	0.57021	0.2025	L	0.59436	1.845	0.80722	D	1	P	0.47604	0.898	P	0.47528	0.549	T	0.60910	-0.7169	10	0.66056	D	0.02	.	14.4018	0.67053	0.0:0.1469:0.8531:0.0	.	1799	Q86VV8	RTTN_HUMAN	F	1799	ENSP00000255674:S1799F	ENSP00000255674:S1799F	S	-	2	0	RTTN	65866332	0.886000	0.30341	0.913000	0.36048	0.356000	0.29392	3.043000	0.49823	2.794000	0.96219	0.655000	0.94253	TCT		0.448	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1		NM_173630		20	29	0	0	0	0.008871	0	20	29		
CNDP2	55748	broad.mit.edu	37	18	72167257	72167257	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:72167257C>T	ENST00000324262.4	+	2	365	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	CNDP2_ENST00000324301.8_Missense_Mutation_p.R17C|CNDP2_ENST00000579847.1_Missense_Mutation_p.R17C	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	17					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		AAATCAGGATCGCTACATTAA	0.428																																						uc002llm.1		NaN																	0				ovary(2)|skin(1)	3						c.(49-51)CGC>TGC		CNDP dipeptidase 2							99.0	88.0	92.0					18																	72167257		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72167257C>T	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.49C>T	18.37:g.72167257C>T	ENSP00000325548:p.Arg17Cys					CNDP2_uc002lln.1_Missense_Mutation_p.R17C|CNDP2_uc002llo.2_Missense_Mutation_p.R17C	p.R17C	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	2	211	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	17					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.49C>T	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527408	0.44969	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.09073	3.02;3.02	5.43	5.43	0.79202	.	0.568620	0.18652	N	0.134962	T	0.23210	0.0561	M	0.66439	2.03	0.39685	D	0.970959	B;D;B	0.65815	0.037;0.995;0.037	B;P;B	0.53861	0.009;0.736;0.009	T	0.00855	-1.1539	10	0.72032	D	0.01	-2.893	18.853	0.92240	0.0:1.0:0.0:0.0	.	17;17;17	B4DV28;Q96KP4-2;Q96KP4	.;.;CNDP2_HUMAN	C	17	ENSP00000325548:R17C;ENSP00000325756:R17C	ENSP00000325548:R17C	R	+	1	0	CNDP2	70318237	1.000000	0.71417	0.850000	0.33497	0.819000	0.46315	3.378000	0.52432	2.545000	0.85829	0.561000	0.74099	CGC		0.428	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1		NM_018235		12	19	0	0	0	0.013537	0	12	19		
NFATC1	4772	broad.mit.edu	37	18	77211716	77211716	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:77211716G>A	ENST00000427363.2	+	6	1803	c.1803G>A	c.(1801-1803)caG>caA	p.Q601Q	NFATC1_ENST00000545796.1_Silent_p.Q129Q|NFATC1_ENST00000586434.1_Silent_p.Q588Q|NFATC1_ENST00000592223.1_Silent_p.Q588Q|NFATC1_ENST00000397790.2_Silent_p.Q129Q|NFATC1_ENST00000253506.5_Silent_p.Q601Q|NFATC1_ENST00000587635.1_Missense_Mutation_p.R573K|NFATC1_ENST00000542384.1_Silent_p.Q601Q|NFATC1_ENST00000591814.1_Silent_p.Q601Q|NFATC1_ENST00000329101.4_Silent_p.Q588Q|NFATC1_ENST00000318065.5_Silent_p.Q588Q			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	601					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TGGAGAAGCAGAGCACGGACA	0.627																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1801-1803)CAG>CAA		nuclear factor of activated T-cells, cytosolic							72.0	69.0	70.0					18																	77211716		2203	4300	6503	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77211716G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1803G>A	18.37:g.77211716G>A						NFATC1_uc002lnc.1_Silent_p.Q601Q|NFATC1_uc010xff.1_Missense_Mutation_p.R573K|NFATC1_uc002lnd.2_Silent_p.Q601Q|NFATC1_uc002lne.2_Silent_p.Q129Q|NFATC1_uc010xfh.1_Silent_p.Q601Q|NFATC1_uc010xfi.1_Silent_p.Q588Q|NFATC1_uc010xfj.1_Silent_p.Q129Q|NFATC1_uc002lnf.2_Silent_p.Q588Q|NFATC1_uc002lng.2_Silent_p.Q588Q|NFATC1_uc010xfk.1_Silent_p.Q588Q	p.Q601Q	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	6	2256	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	601					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.1803G>A																																																																																					0.627	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1		NM_172390		13	21	0	0	0	0.001855	0	13	21		
POLRMT	5442	broad.mit.edu	37	19	622259	622259	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:622259C>T	ENST00000588649.2	-	9	1825	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	581					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGCATCTCCGCCAGCAGC	0.672																																						uc002lpf.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1741-1743)GAG>AAG		mitochondrial DNA-directed RNA polymerase							10.0	8.0	8.0					19																	622259		2109	4174	6283	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:622259C>T		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1741G>A	19.37:g.622259C>T	ENSP00000465759:p.Glu581Lys						p.E581K	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1797	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	581					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.1741G>A	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	14.06	2.422205	0.43020	.	.	ENSG00000099821	ENST00000215591	T	0.48836	0.8	4.15	4.15	0.48705	.	0.056435	0.64402	D	0.000001	T	0.46833	0.1413	L	0.55834	1.745	0.50467	D	0.999879	P	0.34462	0.454	B	0.37780	0.258	T	0.46062	-0.9218	10	0.32370	T	0.25	-47.2431	15.9354	0.79698	0.0:1.0:0.0:0.0	.	581	O00411	RPOM_HUMAN	K	581	ENSP00000215591:E581K	ENSP00000215591:E581K	E	-	1	0	POLRMT	573259	1.000000	0.71417	0.596000	0.28811	0.025000	0.11179	5.531000	0.67148	2.309000	0.77851	0.561000	0.74099	GAG		0.672	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3		NM_005035		2	0	0	0	0	0.009096	0	2	0		
POLR2E	5434	broad.mit.edu	37	19	1093966	1093966	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:1093966C>T	ENST00000215587.7	-	2	452	c.169G>A	c.(169-171)Gac>Aac	p.D57N	POLR2E_ENST00000585838.1_5'Flank|POLR2E_ENST00000586746.1_Missense_Mutation_p.D57N			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	57					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGTGAGGTCCGTGCGCCGC	0.642																																						uc002lre.3		NaN																	0					0						c.(169-171)GAC>AAC		DNA directed RNA polymerase II polypeptide E							40.0	35.0	37.0					19																	1093966		2203	4300	6503	SO:0001583	missense	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III 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	g.chr19:1093966C>T		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.169G>A	19.37:g.1093966C>T	ENSP00000215587:p.Asp57Asn					POLR2E_uc010xgf.1_Intron	p.D57N	NM_002695	NP_002686	P19388	RPAB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	246	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	57					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Missense_Mutation	SNP	ENST00000215587.7	37	c.169G>A	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436420	0.62955	.	.	ENSG00000099817	ENST00000215587	T	0.41758	0.99	3.64	3.64	0.41730	RNA polymerase, Rpb5, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	M	0.74258	2.255	0.80722	D	1	B	0.21520	0.057	B	0.27715	0.082	T	0.51585	-0.8687	10	0.45353	T	0.12	0.6318	14.4829	0.67594	0.0:1.0:0.0:0.0	.	57	P19388	RPAB1_HUMAN	N	57	ENSP00000215587:D57N	ENSP00000215587:D57N	D	-	1	0	POLR2E	1044966	1.000000	0.71417	0.965000	0.40720	0.800000	0.45204	6.867000	0.75511	1.884000	0.54569	0.511000	0.50034	GAC		0.642	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1		NM_002695		5	13	0	0	0	0.000602	0	5	13		
APC2	10297	broad.mit.edu	37	19	1453566	1453566	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:1453566G>A	ENST00000535453.1	+	3	2082	c.369G>A	c.(367-369)ctG>ctA	p.L123L	APC2_ENST00000233607.2_Silent_p.L123L|APC2_ENST00000238483.4_Silent_p.L123L			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGGGAGCTGAGCCGGGCCA	0.721																																						uc002lsr.1		NaN																	0				breast(3)|pancreas(1)	4						c.(367-369)CTG>CTA		adenomatosis polyposis coli 2							9.0	13.0	11.0					19																	1453566		2183	4262	6445	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1453566G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.369G>A	19.37:g.1453566G>A						APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Silent_p.L123L|APC2_uc002lsu.1_Silent_p.L123L	p.L123L	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	577	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	123					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.369G>A	CCDS12068.1																																																																																				0.721	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2		NM_005883		8	14	0	0	0	0.00308	0	8	14		
APC2	10297	broad.mit.edu	37	19	1461114	1461114	+	Missense_Mutation	SNP	G	G	T	rs146990856		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:1461114G>T	ENST00000535453.1	+	12	3313	c.1600G>T	c.(1600-1602)Gtg>Ttg	p.V534L	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.V534L|APC2_ENST00000238483.4_Missense_Mutation_p.V260L			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGGCAGCGTGACTGCCCT	0.647																																						uc002lsr.1		NaN																	0				breast(3)|pancreas(1)	4						c.(1600-1602)GTG>TTG		adenomatosis polyposis coli 2							86.0	80.0	82.0					19																	1461114		2203	4300	6503	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1461114G>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1600G>T	19.37:g.1461114G>T	ENSP00000442954:p.Val534Leu					APC2_uc002lss.1_Missense_Mutation_p.V116L|APC2_uc002lst.1_Missense_Mutation_p.V534L|APC2_uc002lsu.1_Missense_Mutation_p.V533L|uc002lsv.2_5'Flank	p.V534L	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1808	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	534			ARM 3.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.1600G>T	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706148	0.30232	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.61627	0.09;0.87;0.09	4.12	3.1	0.35709	Armadillo-like helical (1);Armadillo-type fold (1);	0.119302	0.56097	D	0.000023	T	0.53110	0.1776	M	0.82323	2.585	0.37941	D	0.932346	B;B	0.33964	0.434;0.307	B;B	0.28709	0.093;0.043	T	0.57154	-0.7860	10	0.56958	D	0.05	-40.178	5.3627	0.16098	0.6583:0.0:0.3417:0.0	.	533;534	O95996-3;O95996	.;APC2_HUMAN	L	534;260;534	ENSP00000233607:V534L;ENSP00000238483:V260L;ENSP00000442954:V534L	ENSP00000233607:V534L	V	+	1	0	APC2	1412114	1.000000	0.71417	0.995000	0.50966	0.269000	0.26545	3.924000	0.56476	0.652000	0.30806	-0.367000	0.07326	GTG		0.647	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2		NM_005883		18	57	1	0	0.000132079	0.008871	0.000134622	18	57		
ATP8B3	148229	broad.mit.edu	37	19	1785654	1785654	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:1785654C>G	ENST00000310127.6	-	26	3445	c.3207G>C	c.(3205-3207)caG>caC	p.Q1069H	ATP8B3_ENST00000525591.1_Missense_Mutation_p.Q1032H|ATP8B3_ENST00000539485.1_Missense_Mutation_p.Q1079H	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1069					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCGTCCTTCTGCCCCACCA	0.607																																						uc002ltw.2		NaN																	0					0						c.(3205-3207)CAG>CAC		ATPase, class I, type 8B, member 3							34.0	39.0	37.0					19																	1785654		2139	4253	6392	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785654C>G	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3207G>C	19.37:g.1785654C>G	ENSP00000311336:p.Gln1069His					ATP8B3_uc002ltv.2_Missense_Mutation_p.Q1032H|ATP8B3_uc002ltx.2_RNA	p.Q1069H	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	26	3441	-		Hepatocellular(1079;0.137)	1069			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3207G>C	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.133798	0.56828	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.42131	0.98;0.98;0.98	4.48	3.44	0.39384	.	0.201651	0.43919	D	0.000516	T	0.61009	0.2313	M	0.81239	2.535	0.30999	N	0.720538	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.987	T	0.63712	-0.6575	10	0.62326	D	0.03	.	7.6725	0.28468	0.0:0.8094:0.0:0.1906	.	1069;1032	O60423;Q7Z485	AT8B3_HUMAN;.	H	1069;1079;1032	ENSP00000311336:Q1069H;ENSP00000443574:Q1079H;ENSP00000437115:Q1032H	ENSP00000311336:Q1069H	Q	-	3	2	ATP8B3	1736654	0.986000	0.35501	0.986000	0.45419	0.673000	0.39480	2.603000	0.46266	2.027000	0.59764	0.655000	0.94253	CAG		0.607	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1		NM_138813		12	8	0	0	0	0.013537	0	12	8		
DOT1L	84444	broad.mit.edu	37	19	2194543	2194543	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:2194543G>A	ENST00000398665.3	+	7	654	c.618G>A	c.(616-618)atG>atA	p.M206I		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	206	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGTGGATGAAATGGTATG	0.597																																						uc002lvb.3		NaN																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(616-618)ATG>ATA		DOT1-like, histone H3 methyltransferase							102.0	106.0	105.0					19																	2194543		1941	4140	6081	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2194543G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.618G>A	19.37:g.2194543G>A	ENSP00000381657:p.Met206Ile						p.M206I	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	654	+		Hepatocellular(1079;0.137)	206					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.618G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508397	0.85282	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	T;T	0.23552	1.9;1.9	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.89214	3.015	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	T	0.68029	-0.5517	10	0.87932	D	0	-29.1164	15.8524	0.78943	0.0:0.0:1.0:0.0	.	206	Q8TEK3-2	.	I	206;206;182	ENSP00000381657:M206I;ENSP00000404284:M182I	ENSP00000221482:M206I	M	+	3	0	DOT1L	2145543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.122000	0.94380	2.216000	0.71823	0.462000	0.41574	ATG		0.597	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		17	40	0	0	0	0.007413	0	17	40		
DOT1L	84444	broad.mit.edu	37	19	2208972	2208972	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:2208972C>T	ENST00000398665.3	+	12	1038	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	334					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCAAAACTCAGGGTAAGTT	0.443																																						uc002lvb.3		NaN																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1000-1002)CTC>CTT		DOT1-like, histone H3 methyltransferase							89.0	90.0	90.0					19																	2208972		1842	4082	5924	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2208972C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1002C>T	19.37:g.2208972C>T						DOT1L_uc002lvc.1_5'Flank	p.L334L	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1038	+		Hepatocellular(1079;0.137)	334					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1002C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589435	0.28357	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	T	0.71846	0.3388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71965	-0.4433	4	.	.	.	-31.091	16.6047	0.84825	0.0:1.0:0.0:0.0	.	.	.	.	L	121	.	.	S	+	2	0	DOT1L	2159972	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.273000	0.78527	2.161000	0.67846	0.484000	0.47621	TCA		0.443	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		26	48	0	0	0	0.004656	0	26	48		
ZNF555	148254	broad.mit.edu	37	19	2852793	2852793	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:2852793A>G	ENST00000334241.4	+	4	868	c.730A>G	c.(730-732)Act>Gct	p.T244A	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.T243A	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAAGTCTTACTAGTCATCT	0.423																																						uc002lwo.2		NaN																	0				ovary(1)	1						c.(730-732)ACT>GCT		zinc finger protein 555							74.0	67.0	69.0					19																	2852793		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2852793A>G	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.730A>G	19.37:g.2852793A>G	ENSP00000334853:p.Thr244Ala					ZNF555_uc002lwn.3_Missense_Mutation_p.T243A	p.T244A	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	819	+			244			C2H2-type 3.		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.730A>G	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.617467	0.00828	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.35605	1.3	3.4	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11067	0.0270	N	0.02247	-0.625	0.09310	N	1	B;B	0.25667	0.131;0.026	B;B	0.22880	0.042;0.016	T	0.32188	-0.9916	9	0.06494	T	0.89	.	3.8898	0.09114	0.5616:0.2225:0.0:0.2158	.	244;243	Q8NEP9;A8KA89	ZN555_HUMAN;.	A	244;243	ENSP00000334853:T244A	ENSP00000334853:T244A	T	+	1	0	ZNF555	2803793	0.000000	0.05858	0.002000	0.10522	0.951000	0.60555	-0.124000	0.10595	0.449000	0.26747	0.459000	0.35465	ACT		0.423	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3		NM_152791		19	54	0	0	0	0.006122	0	19	54		
AES	166	broad.mit.edu	37	19	3055693	3055693	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:3055693C>G	ENST00000327141.4	-	5	622	c.266G>C	c.(265-267)tGt>tCt	p.C89S	AES_ENST00000221561.8_Missense_Mutation_p.C156S|AC005944.2_ENST00000592758.1_RNA|AES_ENST00000586839.1_Missense_Mutation_p.C33S|AES_ENST00000592330.1_Intron	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	89	Gln-rich (Q domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCTGGGCACAAATCCCGTT	0.642																																					Pancreas(11;265 407 11814 26840 35326)	uc002lwy.1		NaN																	0					0						c.(265-267)TGT>TCT		amino-terminal enhancer of split isoform b							79.0	74.0	76.0					19																	3055693		2203	4300	6503	SO:0001583	missense	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3055693C>G	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.266G>C	19.37:g.3055693C>G	ENSP00000317537:p.Cys89Ser					AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Missense_Mutation_p.C89S|AES_uc002lxa.1_Missense_Mutation_p.C33S|AES_uc002lxb.1_Missense_Mutation_p.C156S|AES_uc002lxc.2_Missense_Mutation_p.C156S	p.C89S	NM_001130	NP_001121	Q08117	AES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	439	-		Hepatocellular(1079;0.137)	89			Gln-rich (Q domain).		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Missense_Mutation	SNP	ENST00000327141.4	37	c.266G>C	CCDS12102.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333747	0.41297	.	.	ENSG00000104964	ENST00000221561;ENST00000327141	T;T	0.50813	0.73;0.8	4.09	2.96	0.34315	Groucho/TLE, N-terminal Q-rich domain (1);	0.167266	0.53938	U	0.000045	T	0.50531	0.1621	L	0.47190	1.495	0.45427	D	0.998407	P;B	0.47191	0.891;0.001	P;B	0.51866	0.682;0.015	T	0.56263	-0.8008	10	0.72032	D	0.01	.	11.8484	0.52397	0.0:0.8218:0.1782:0.0	.	156;89	Q14CJ1;Q08117	.;AES_HUMAN	S	156;89	ENSP00000221561:C156S;ENSP00000317537:C89S	ENSP00000221561:C156S	C	-	2	0	AES	3006693	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.401000	0.59716	1.835000	0.53391	0.655000	0.94253	TGT		0.642	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1		NM_198969		12	27	0	0	0	0.001855	0	12	27		
GIPC3	126326	broad.mit.edu	37	19	3586625	3586625	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:3586625G>A	ENST00000322315.5	+	2	403	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	120	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGACAGAGGATGCTCTGGG	0.632											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lyd.3		NaN																	0				breast(1)	1						c.(358-360)GAT>AAT		GIPC PDZ domain containing family, member 3							114.0	109.0	111.0					19																	3586625		2203	4300	6503	SO:0001583	missense	126326							g.chr19:3586625G>A	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.358G>A	19.37:g.3586625G>A	ENSP00000319254:p.Asp120Asn		OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.D120N	NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	2	385	+			120			PDZ.		O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.358G>A	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267948	0.59540	.	.	ENSG00000179855	ENST00000322315	T	0.26660	1.72	4.02	4.02	0.46733	PDZ/DHR/GLGF (4);	0.103335	0.64402	D	0.000006	T	0.31979	0.0814	M	0.72353	2.195	0.80722	D	1	B	0.25772	0.134	B	0.29077	0.098	T	0.22977	-1.0201	10	0.49607	T	0.09	-28.3787	14.7508	0.69525	0.0:0.0:1.0:0.0	.	120	Q8TF64	GIPC3_HUMAN	N	120	ENSP00000319254:D120N	ENSP00000319254:D120N	D	+	1	0	GIPC3	3537625	1.000000	0.71417	0.748000	0.31131	0.429000	0.31625	9.115000	0.94336	1.791000	0.52520	0.561000	0.74099	GAT		0.632	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1		NM_133261		18	92	0	0	0	0.010504	0	18	92		
DAPK3	1613	broad.mit.edu	37	19	3964647	3964647	+	Silent	SNP	G	G	A	rs144975421		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:3964647G>A	ENST00000545797.2	-	3	648	c.405C>T	c.(403-405)atC>atT	p.I135I	DAPK3_ENST00000301264.3_Silent_p.I135I			O43293	DAPK3_HUMAN	death-associated protein kinase 3	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGTGTGCGATGCGCTTAG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		9636	0.0		0.0	False		,,,				2504	0.0					uc002lzc.1		NaN																	0				central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7						c.(403-405)ATC>ATT		death-associated protein kinase 3							108.0	110.0	110.0					19																	3964647		2203	4300	6503	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964647G>A	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.405C>T	19.37:g.3964647G>A						DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Silent_p.I135I	p.I135I	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	498	-		Hepatocellular(1079;0.137)	135			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.405C>T	CCDS12116.1																																																																																				0.642	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2		NM_001348		20	59	0	0	0	0.014323	0	20	59		
CREB3L3	84699	broad.mit.edu	37	19	4164618	4164618	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:4164618C>T	ENST00000078445.2	+	5	842	c.695C>T	c.(694-696)aCt>aTt	p.T232I	CREB3L3_ENST00000595923.1_Missense_Mutation_p.T231I|CREB3L3_ENST00000602147.1_Missense_Mutation_p.T232I|CREB3L3_ENST00000602257.1_Missense_Mutation_p.T230I|CREB3L3_ENST00000252587.3_Missense_Mutation_p.T172I	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	232					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCTGCCCACTCAGCTGCCC	0.582																																						uc002lzl.2		NaN																	0				ovary(1)|skin(1)	2						c.(694-696)ACT>ATT		cAMP responsive element binding protein 3-like							72.0	56.0	61.0					19																	4164618		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4164618C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.695C>T	19.37:g.4164618C>T	ENSP00000078445:p.Thr232Ile					CREB3L3_uc002lzm.2_Missense_Mutation_p.T222I|CREB3L3_uc010xib.1_Missense_Mutation_p.T221I|CREB3L3_uc010xic.1_Missense_Mutation_p.T223I	p.T232I	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	5	811	+			232			Cytoplasmic (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.695C>T	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	5.299	0.240468	0.10023	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.81996	-1.56;-1.56	4.99	3.96	0.45880	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.309685	0.36034	N	0.002826	D	0.86142	0.5862	M	0.80982	2.52	0.20307	N	0.999915	D;B;P;B	0.55172	0.97;0.303;0.485;0.353	P;B;B;B	0.52672	0.706;0.098;0.25;0.127	T	0.78814	-0.2056	10	0.56958	D	0.05	-25.2744	7.5591	0.27841	0.1626:0.7514:0.0:0.086	.	232;230;231;232	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	I	232;232;172	ENSP00000078445:T232I;ENSP00000252587:T172I	ENSP00000078445:T232I	T	+	2	0	CREB3L3	4115618	0.432000	0.25554	0.830000	0.32933	0.005000	0.04900	0.917000	0.28665	1.093000	0.41377	-0.254000	0.11334	ACT		0.582	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1		NM_032607		20	26	0	0	0	0.008871	0	20	26		
SHD	56961	broad.mit.edu	37	19	4288274	4288274	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:4288274G>A	ENST00000543264.2	+	5	2214	c.751G>A	c.(751-753)Gag>Aag	p.E251K	SHD_ENST00000599689.1_Intron|SHD_ENST00000600475.1_3'UTR	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	251	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.							p.E251Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGATGCAGAGAGCCTCCT	0.572																																						uc002lzw.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(751-753)GAG>AAG		Src homology 2 domain containing transforming							99.0	88.0	92.0					19																	4288274		2203	4300	6503	SO:0001583	missense	56961							g.chr19:4288274G>A	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.751G>A	19.37:g.4288274G>A	ENSP00000446058:p.Glu251Lys					SHD_uc010dtu.2_Intron	p.E251K	NM_020209	NP_064594	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	5	2214	+			251			SH2.		Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.751G>A	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160094	0.78226	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	D	0.91740	-2.9	4.91	4.91	0.64330	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.96334	0.8804	M	0.87097	2.86	0.51482	D	0.999929	D	0.71674	0.998	D	0.77557	0.99	D	0.96848	0.9623	10	0.87932	D	0	-17.1824	15.6878	0.77424	0.0:0.0:1.0:0.0	.	251	Q96IW2	SHD_HUMAN	K	251;166	ENSP00000446058:E251K	ENSP00000221852:E166K	E	+	1	0	SHD	4239274	1.000000	0.71417	0.952000	0.39060	0.051000	0.14879	9.180000	0.94867	2.568000	0.86640	0.555000	0.69702	GAG		0.572	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1		NM_020209		16	42	0	0	0	0.004007	0	16	42		
SHD	56961	broad.mit.edu	37	19	4288325	4288325	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:4288325G>A	ENST00000543264.2	+	5	2265	c.802G>A	c.(802-804)Gag>Aag	p.E268K	SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	268	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCTCAGTGAGACCAACCC	0.572																																						uc002lzw.2		NaN																	0					0						c.(802-804)GAG>AAG		Src homology 2 domain containing transforming							82.0	69.0	73.0					19																	4288325		2203	4300	6503	SO:0001583	missense	56961							g.chr19:4288325G>A	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.802G>A	19.37:g.4288325G>A	ENSP00000446058:p.Glu268Lys					SHD_uc010dtu.2_Intron	p.E268K	NM_020209	NP_064594	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	5	2265	+			268			SH2.		Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.802G>A	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171605	0.94807	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	D	0.89875	-2.58	4.91	4.91	0.64330	SH2 motif (5);	0.183063	0.47852	D	0.000216	D	0.92724	0.7687	M	0.71036	2.16	0.41486	D	0.988191	P	0.49185	0.92	P	0.58130	0.833	D	0.93621	0.6948	10	0.87932	D	0	-9.5043	15.6878	0.77424	0.0:0.0:1.0:0.0	.	268	Q96IW2	SHD_HUMAN	K	268;183	ENSP00000446058:E268K	ENSP00000221852:E183K	E	+	1	0	SHD	4239325	1.000000	0.71417	0.997000	0.53966	0.861000	0.49209	4.277000	0.58939	2.568000	0.86640	0.555000	0.69702	GAG		0.572	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1		NM_020209		8	26	0	0	0	0.004482	0	8	26		
ACSBG2	81616	broad.mit.edu	37	19	6187358	6187358	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6187358G>A	ENST00000586696.1	+	12	1881	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K	ACSBG2_ENST00000588304.1_Silent_p.K485K|ACSBG2_ENST00000252669.5_Silent_p.K535K|RFX2_ENST00000587700.1_5'Flank|ACSBG2_ENST00000588485.1_Silent_p.K348K|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Silent_p.K535K			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	535					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTTAAGAAGAAGATCCCCA	0.468																																						uc002mef.1		NaN																	0				ovary(1)	1						c.(1603-1605)AAG>AAA		bubblegum-related acyl-CoA synthetase 2							141.0	127.0	131.0					19																	6187358		2203	4300	6503	SO:0001819	synonymous_variant	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6187358G>A		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1605G>A	19.37:g.6187358G>A						ACSBG2_uc002mee.1_Silent_p.K348K|ACSBG2_uc002meg.1_Silent_p.K535K|ACSBG2_uc002meh.1_Silent_p.K535K|ACSBG2_uc002mei.1_Silent_p.K485K|ACSBG2_uc010xiz.1_Silent_p.K535K	p.K535K	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN			12	1832	+			535					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP	ENST00000586696.1	37	c.1605G>A	CCDS12159.1																																																																																				0.468	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1		NM_030924		19	80	0	0	0	0.00333	0	19	80		
ACER1	125981	broad.mit.edu	37	19	6306799	6306799	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6306799G>A	ENST00000301452.4	-	6	798	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	241					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGCCAGTAGCGGACTTTGAGG	0.572																																						uc002mel.2		NaN																	0					0						c.(721-723)CGC>TGC		alkaline ceramidase 1							77.0	61.0	66.0					19																	6306799		2203	4300	6503	SO:0001583	missense	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6306799G>A	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.721C>T	19.37:g.6306799G>A	ENSP00000301452:p.Arg241Cys						p.R241C	NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN			6	799	-			241			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000301452.4	37	c.721C>T	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724182	0.48728	.	.	ENSG00000167769	ENST00000301452	T	0.44482	0.92	5.49	3.34	0.38264	.	0.356330	0.33127	N	0.005257	T	0.35740	0.0942	L	0.48642	1.525	0.45747	D	0.998648	B	0.16396	0.017	B	0.12837	0.008	T	0.20739	-1.0266	10	0.87932	D	0	-21.5044	10.6397	0.45586	0.1587:0.0:0.8413:0.0	.	241	Q8TDN7	ACER1_HUMAN	C	241	ENSP00000301452:R241C	ENSP00000301452:R241C	R	-	1	0	ACER1	6257799	0.998000	0.40836	0.738000	0.30950	0.846000	0.48090	2.308000	0.43690	0.687000	0.31509	0.655000	0.94253	CGC		0.572	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1		NM_133492		11	37	0	0	0	0.008291	0	11	37		
CLPP	8192	broad.mit.edu	37	19	6364487	6364487	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6364487C>T	ENST00000245816.4	+	4	515	c.392C>T	c.(391-393)gCc>gTc	p.A131V	CTB-180A7.3_ENST00000595644.1_RNA|CLPP_ENST00000596149.1_Missense_Mutation_p.A44V|CLPP_ENST00000596605.1_Intron	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	131					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|ovary(2)	6						GCGGGCCTGGCCATCTACGAC	0.667																																						uc002mem.1		NaN																	0				ovary(1)	1						c.(391-393)GCC>GTC		caseinolytic peptidase, ATP-dependent,							30.0	26.0	27.0					19																	6364487		2202	4299	6501	SO:0001583	missense	8192				proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity	g.chr19:6364487C>T	Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"""ATPases / AAA-type"""	2084	protein-coding gene	gene with protein product	"""ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"""	601119	"""ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog"", ""ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)"", ""ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"""			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.392C>T	19.37:g.6364487C>T	ENSP00000245816:p.Ala131Val					CLPP_uc002men.1_5'Flank	p.A131V	NM_006012	NP_006003	Q16740	CLPP_HUMAN			4	515	+			131					B2R4W5	Missense_Mutation	SNP	ENST00000245816.4	37	c.392C>T	CCDS12162.1	.	.	.	.	.	.	.	.	.	.	c	34	5.309625	0.95629	.	.	ENSG00000125656	ENST00000245816	.	.	.	4.9	4.9	0.64082	.	0.055120	0.64402	D	0.000001	D	0.86326	0.5906	H	0.96518	3.835	0.80722	D	1	D	0.67145	0.996	P	0.61275	0.886	D	0.91052	0.4879	9	0.87932	D	0	-21.4658	17.2763	0.87116	0.0:1.0:0.0:0.0	.	131	Q16740	CLPP_HUMAN	V	131	.	ENSP00000245816:A131V	A	+	2	0	CLPP	6315487	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.183000	0.77697	2.460000	0.83146	0.536000	0.68110	GCC		0.667	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452984.1		NM_006012		4	9	0	0	0	0.000602	0	4	9		
TRIP10	9322	broad.mit.edu	37	19	6746547	6746547	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6746547G>C	ENST00000313244.9	+	11	1272	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q	TRIP10_ENST00000600428.1_Missense_Mutation_p.E249Q|TRIP10_ENST00000313285.8_Missense_Mutation_p.E357Q|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Missense_Mutation_p.E357Q			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	413	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						ACGCAGTCGTGAACTTCAGAA	0.478																																						uc002mfs.2		NaN																	0				ovary(1)	1						c.(1237-1239)GAA>CAA		thyroid hormone receptor interactor 10							84.0	72.0	76.0					19																	6746547		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6746547G>C	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1237G>C	19.37:g.6746547G>C	ENSP00000320117:p.Glu413Gln					TRIP10_uc010dux.1_Missense_Mutation_p.E357Q|TRIP10_uc002mfr.2_Missense_Mutation_p.E357Q|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.E176Q	p.E413Q	NM_004240	NP_004231	Q15642	CIP4_HUMAN			11	1303	+			413			Interaction with CDC42.|Interaction with PDE6G (By similarity).|REM.		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.1237G>C		.	.	.	.	.	.	.	.	.	.	G	19.80	3.894615	0.72639	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.24151	1.87;1.87	5.25	5.25	0.73442	.	0.114714	0.56097	D	0.000022	T	0.49184	0.1542	M	0.64997	1.995	0.47441	D	0.999422	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.76575	0.986;0.968;0.988	T	0.49312	-0.8953	10	0.72032	D	0.01	-22.8942	16.3262	0.82983	0.0:0.0:1.0:0.0	.	357;413;357	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	Q	357;413;357	ENSP00000320493:E357Q;ENSP00000320117:E413Q	ENSP00000320117:E413Q	E	+	1	0	TRIP10	6697547	1.000000	0.71417	0.569000	0.28460	0.823000	0.46562	8.646000	0.91053	2.455000	0.83008	0.305000	0.20034	GAA		0.478	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2				7	14	0	0	0	0.001984	0	7	14		
VAV1	7409	broad.mit.edu	37	19	6829860	6829860	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6829860C>T	ENST00000602142.1	+	14	1411	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	VAV1_ENST00000596764.1_Silent_p.L411L|VAV1_ENST00000539284.1_Silent_p.L346L|VAV1_ENST00000304076.2_Silent_p.L443L|VAV1_ENST00000599806.1_Silent_p.L388L	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	443	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTATGACCTCAAGGACTTTG	0.532																																						uc002mfu.1		NaN																	0				lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(1327-1329)CTC>CTT		vav 1 guanine nucleotide exchange factor							153.0	125.0	135.0					19																	6829860		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6829860C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1329C>T	19.37:g.6829860C>T						VAV1_uc010xjh.1_Silent_p.L411L|VAV1_uc010dva.1_Silent_p.L443L|VAV1_uc002mfv.1_Silent_p.L388L	p.L443L	NM_005428	NP_005419	P15498	VAV_HUMAN			14	1426	+			443			PH.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.1329C>T	CCDS12174.1																																																																																				0.532	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1				23	86	0	0	0	0.00333	0	23	86		
INSR	3643	broad.mit.edu	37	19	7152923	7152923	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:7152923G>A	ENST00000302850.5	-	10	2187	c.2045C>T	c.(2044-2046)tCg>tTg	p.S682L	INSR_ENST00000341500.5_Missense_Mutation_p.S682L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	682	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCAGGTCCTCGAGGGCAGCTT	0.537																																						uc002mgd.1		NaN																	0				ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(2044-2046)TCG>TTG		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						69.0	64.0	65.0					19																	7152923		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7152923G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2045C>T	19.37:g.7152923G>A	ENSP00000303830:p.Ser682Leu					INSR_uc002mge.1_Missense_Mutation_p.S682L|INSR_uc002mgf.2_Missense_Mutation_p.S682L	p.S682L	NM_000208	NP_000199	P06213	INSR_HUMAN			10	2154	-			682			Fibronectin type-III 1.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.2045C>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	g	13.60	2.286285	0.40494	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.69306	-0.39;-0.39	5.55	5.55	0.83447	Fibronectin, type III (3);	0.000000	0.42294	U	0.000728	T	0.56949	0.2020	L	0.35288	1.05	0.58432	D	0.999998	B;B;B	0.14805	0.011;0.008;0.004	B;B;B	0.08055	0.001;0.003;0.001	T	0.50389	-0.8834	10	0.26408	T	0.33	.	17.0306	0.86460	0.0:0.0:1.0:0.0	.	673;682;682	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	L	682	ENSP00000303830:S682L;ENSP00000342838:S682L	ENSP00000303830:S682L	S	-	2	0	INSR	7103923	1.000000	0.71417	0.964000	0.40570	0.512000	0.34134	9.166000	0.94766	2.625000	0.88918	0.598000	0.82781	TCG		0.537	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1				22	49	0	0	0	0.014323	0	22	49		
INSR	3643	broad.mit.edu	37	19	7184523	7184523	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:7184523G>A	ENST00000302850.5	-	3	920	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	INSR_ENST00000341500.5_Silent_p.L260L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	260	Cys-rich.		L -> P (in LEPRCH; Geldeimalsen). {ECO:0000269|PubMed:2479553}.		activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CTGCCGTCCAGGTAGAAGTTG	0.637																																						uc002mgd.1		NaN																	0				ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(778-780)CTG>TTG		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						42.0	37.0	38.0					19																	7184523		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7184523G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.778C>T	19.37:g.7184523G>A						INSR_uc002mge.1_Silent_p.L260L|INSR_uc002mgf.2_Silent_p.L260L	p.L260L	NM_000208	NP_000199	P06213	INSR_HUMAN			3	887	-			260		L -> P (in LEPRCH; Geldeimalsen).	Cys-rich.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.778C>T	CCDS12176.1																																																																																				0.637	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1				3	13	0	0	0	0.009096	0	3	13		
ARHGEF18	23370	broad.mit.edu	37	19	7531822	7531822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:7531822G>A	ENST00000359920.6	+	14	2612	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.E629K|CTD-2207O23.3_ENST00000593531.1_Silent_p.R744R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	787					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCAGGCACGGAATCCGATCC	0.632																																						uc002mgi.2		NaN																	0				ovary(1)	1						c.(2359-2361)GAA>AAA		Rho/Rac guanine nucleotide exchange factor 18							77.0	79.0	79.0					19																	7531822		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7531822G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2359G>A	19.37:g.7531822G>A	ENSP00000352995:p.Glu787Lys					ARHGEF18_uc010xjm.1_Missense_Mutation_p.E629K|ARHGEF18_uc002mgh.2_Missense_Mutation_p.E629K|ARHGEF18_uc002mgj.1_Missense_Mutation_p.E430K	p.E787K	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN			14	2612	+		Renal(5;0.0902)	787					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.2359G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	8.606	0.888060	0.17540	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.27402	1.67;1.67	3.51	3.51	0.40186	.	0.768760	0.11165	N	0.592695	T	0.23846	0.0577	L	0.40543	1.245	0.18873	N	0.999985	B;B	0.23735	0.09;0.024	B;B	0.25614	0.062;0.03	T	0.17592	-1.0364	10	0.10111	T	0.7	-9.6138	10.8311	0.46661	0.0:0.0:1.0:0.0	.	629;787	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	K	629;787	ENSP00000319200:E629K;ENSP00000352995:E787K	ENSP00000319200:E629K	E	+	1	0	ARHGEF18	7437822	0.347000	0.24853	0.030000	0.17652	0.005000	0.04900	3.251000	0.51453	2.279000	0.76181	0.561000	0.74099	GAA		0.632	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1		NM_015318		10	57	0	0	0	0.008291	0	10	57		
MCEMP1	199675	broad.mit.edu	37	19	7743014	7743014	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:7743014C>G	ENST00000333598.3	+	3	663	c.209C>G	c.(208-210)tCa>tGa	p.S70*	TRAPPC5_ENST00000596148.1_5'Flank|C19orf59_ENST00000597445.1_Nonsense_Mutation_p.S27*|CTD-3214H19.16_ENST00000597959.1_5'Flank|TRAPPC5_ENST00000317378.5_5'Flank|TRAPPC5_ENST00000426877.2_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		70						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						AGGCCGCCCTCAGACTCCACC	0.597											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mhh.1		NaN																	0				skin(1)	1						c.(208-210)TCA>TGA		mast cell-expressed membrane protein 1							140.0	137.0	138.0					19																	7743014		2203	4300	6503	SO:0001587	stop_gained	199675					integral to membrane		g.chr19:7743014C>G																												ENST00000333598.3:c.209C>G	19.37:g.7743014C>G	ENSP00000329920:p.Ser70*		OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	TRAPPC5_uc002mhi.1_5'Flank|TRAPPC5_uc002mhj.1_5'Flank|TRAPPC5_uc002mhk.1_5'Flank	p.S70*	NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN			3	234	+			70			Cytoplasmic (Potential).		Q8IX20	Nonsense_Mutation	SNP	ENST00000333598.3	37	c.209C>G	CCDS12183.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067994	0.36470	.	.	ENSG00000183019	ENST00000333598	.	.	.	3.94	-5.26	0.02772	.	1.219240	0.06198	N	0.682622	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	0.322	4.5753	0.12230	0.0:0.297:0.3008:0.4023	.	.	.	.	X	70	.	ENSP00000329920:S70X	S	+	2	0	C19orf59	7649014	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.999000	0.03697	-0.529000	0.06358	-0.258000	0.10820	TCA		0.597	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461248.1				44	137	0	0	0	0.01441	0	44	137		
OR7D4	125958	broad.mit.edu	37	19	9325375	9325375	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:9325375G>C	ENST00000308682.2	-	1	167	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CTGACGGCCAGAATGATGAGC	0.557																																						uc002mla.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(139-141)CTG>GTG		olfactory receptor, family 7, subfamily D,							80.0	75.0	77.0					19																	9325375		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325375G>C		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.139C>G	19.37:g.9325375G>C	ENSP00000310488:p.Leu47Val						p.L47V	NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN			1	139	-			47			Cytoplasmic (Potential).		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.139C>G	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	4.257	0.046771	0.08243	.	.	ENSG00000174667	ENST00000308682	T	0.02656	4.21	4.0	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.153385	0.30419	N	0.009677	T	0.02688	0.0081	L	0.43923	1.385	0.09310	N	1	B	0.22851	0.076	B	0.23852	0.049	T	0.39522	-0.9610	10	0.66056	D	0.02	.	2.8675	0.05605	0.1013:0.3382:0.3862:0.1744	.	47	Q8NG98	OR7D4_HUMAN	V	47	ENSP00000310488:L47V	ENSP00000310488:L47V	L	-	1	2	OR7D4	9186375	0.000000	0.05858	0.995000	0.50966	0.037000	0.13140	-2.541000	0.00936	1.020000	0.39573	0.436000	0.28706	CTG		0.557	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1				14	56	0	0	0	0.00245	0	14	56		
ZNF121	7675	broad.mit.edu	37	19	9677729	9677729	+	Silent	SNP	G	G	A	rs149905678	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:9677729G>A	ENST00000586602.1	-	6	476	c.60C>T	c.(58-60)ttC>ttT	p.F20F	ZNF121_ENST00000320451.6_Silent_p.F20F			P58317	ZN121_HUMAN	zinc finger protein 121	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AGTGTTCACTGAAGATTTCTC	0.383													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21194	0.0		0.0	False		,,,				2504	0.0					uc010xkp.1		NaN																	0				ovary(1)	1						c.(58-60)TTC>TTT		zinc finger protein 121		G		0,4406		0,0,2203	124.0	114.0	117.0		60	-1.2	0.0	19	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF121	NM_001008727.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		20/391	9677729	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7675				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9677729G>A	M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.60C>T	19.37:g.9677729G>A						ZNF121_uc010dwt.2_Silent_p.F20F|ZNF121_uc010xkq.1_Silent_p.F20F	p.F20F	NM_001008727	NP_001008727	P58317	ZN121_HUMAN			4	292	-			20						Silent	SNP	ENST00000586602.1	37	c.60C>T																																																																																					0.383	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1		NM_001008727		22	58	0	0	0	0.014323	0	22	58		
ZNF562	54811	broad.mit.edu	37	19	9763894	9763894	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:9763894G>C	ENST00000448622.1	-	6	1174	c.1012C>G	c.(1012-1014)Cac>Gac	p.H338D	ZNF562_ENST00000293648.4_Missense_Mutation_p.H266D|ZNF562_ENST00000453792.2_Missense_Mutation_p.H269D|ZNF562_ENST00000590155.1_Missense_Mutation_p.H337D|ZNF562_ENST00000541032.1_Missense_Mutation_p.H301D|ZNF562_ENST00000453372.2_Missense_Mutation_p.H338D|ZNF562_ENST00000537617.1_Missense_Mutation_p.H222D	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTCCAGTGTGAGTTCTTACA	0.418																																						uc010xks.1		NaN																	0					0						c.(1012-1014)CAC>GAC		zinc finger protein 562 isoform a							142.0	133.0	136.0					19																	9763894		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9763894G>C	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.1012C>G	19.37:g.9763894G>C	ENSP00000411784:p.His338Asp					ZNF562_uc002mly.2_Missense_Mutation_p.H338D|ZNF562_uc002mlx.2_Missense_Mutation_p.H266D|ZNF562_uc010xkt.1_Missense_Mutation_p.H301D|ZNF562_uc010xku.1_Missense_Mutation_p.H269D|ZNF562_uc010xkv.1_Missense_Mutation_p.H337D|ZNF562_uc010xkw.1_Missense_Mutation_p.H222D	p.H338D	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN			6	1175	-			338			C2H2-type 5.		Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.1012C>G	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011567	0.54468	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	1.63	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80363	0.4609	H	0.96080	3.765	0.35251	D	0.778719	P;P;P;P;P	0.47677	0.769;0.806;0.899;0.806;0.769	B;B;P;P;P	0.50896	0.226;0.251;0.653;0.518;0.484	D	0.86862	0.2030	9	0.87932	D	0	.	9.2674	0.37650	0.0:0.0:1.0:0.0	.	222;337;301;338;266	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	D	338;338;266;301;269;222	ENSP00000410734:H338D;ENSP00000411784:H338D;ENSP00000293648:H266D;ENSP00000442614:H301D;ENSP00000440451:H269D;ENSP00000445816:H222D	ENSP00000293648:H266D	H	-	1	0	ZNF562	9624894	1.000000	0.71417	0.040000	0.18447	0.882000	0.50991	3.786000	0.55431	1.224000	0.43551	0.306000	0.20318	CAC		0.418	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1		NM_017656		37	127	0	0	0	0.005524	0	37	127		
TYK2	7297	broad.mit.edu	37	19	10488945	10488945	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10488945G>A	ENST00000525621.1	-	3	619	c.138C>T	c.(136-138)ttC>ttT	p.F46F	TYK2_ENST00000529370.1_Silent_p.F46F|TYK2_ENST00000524462.1_Intron|TYK2_ENST00000264818.6_Silent_p.F46F	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	46	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ATGACTCACTGAAAGTGACCC	0.622																																						uc002moc.3		NaN																	0				lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(136-138)TTC>TTT		tyrosine kinase 2							77.0	66.0	69.0					19																	10488945		2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10488945G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.138C>T	19.37:g.10488945G>A						TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.F46F	p.F46F	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		3	516	-			46			FERM.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.138C>T	CCDS12236.1																																																																																				0.622	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1				16	28	0	0	0	0.006122	0	16	28		
PDE4A	5141	broad.mit.edu	37	19	10571772	10571772	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10571772C>T	ENST00000352831.6	+	11	1568	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	PDE4A_ENST00000344979.3_Silent_p.I247I|PDE4A_ENST00000592685.1_Silent_p.I464I|PDE4A_ENST00000380702.2_Silent_p.I464I|PDE4A_ENST00000293683.5_Silent_p.I460I|PDE4A_ENST00000440014.2_Silent_p.I425I	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	486	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	AGTTCCTCATCAACACCAGTG	0.647																																						uc002moj.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1456-1458)ATC>ATT		phosphodiesterase 4A isoform 1	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						43.0	39.0	40.0					19																	10571772		2203	4300	6503	SO:0001819	synonymous_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10571772C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1458C>T	19.37:g.10571772C>T						PDE4A_uc002mok.2_Silent_p.I460I|PDE4A_uc002mol.2_Silent_p.I425I|PDE4A_uc002mom.2_Silent_p.I247I|PDE4A_uc002mon.2_5'UTR|PDE4A_uc002moo.2_Silent_p.I152I	p.I486I	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		11	1566	+			486			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	c.1458C>T	CCDS45961.1																																																																																				0.647	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1				6	32	0	0	0	0.001168	0	6	32		
CDKN2D	1032	broad.mit.edu	37	19	10677925	10677925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10677925C>T	ENST00000393599.2	-	2	634	c.310G>A	c.(310-312)Gat>Aat	p.D104N	KRI1_ENST00000312962.6_5'Flank|KRI1_ENST00000361821.5_5'Flank|CDKN2D_ENST00000335766.2_Missense_Mutation_p.D104N|KRI1_ENST00000537964.1_5'Flank	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	104					autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CCGGTGCCATCAGGCACGTTG	0.597																																						uc002mpa.2		NaN																	0					0						c.(310-312)GAT>AAT		cyclin-dependent kinase inhibitor 2D							142.0	126.0	132.0					19																	10677925		2203	4300	6503	SO:0001583	missense	1032	Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System			anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:10677925C>T		CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273		ENST00000393599.2:c.310G>A	19.37:g.10677925C>T	ENSP00000377224:p.Asp104Asn					KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Missense_Mutation_p.D104N	p.D104N	NM_001800	NP_001791	P55273	CDN2D_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		2	612	-			104					Q13102|Q6FGE9	Missense_Mutation	SNP	ENST00000393599.2	37	c.310G>A	CCDS12244.1	.	.	.	.	.	.	.	.	.	.	c	23.9	4.466983	0.84425	.	.	ENSG00000129355	ENST00000335766;ENST00000393599	T;T	0.35789	1.29;1.29	4.96	4.96	0.65561	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	N	0.13299	0.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46569	-0.9182	10	0.41790	T	0.15	-5.9527	16.9548	0.86256	0.0:1.0:0.0:0.0	.	104	P55273	CDN2D_HUMAN	N	104	ENSP00000337056:D104N;ENSP00000377224:D104N	ENSP00000337056:D104N	D	-	1	0	CDKN2D	10538925	1.000000	0.71417	0.036000	0.18154	0.537000	0.34900	6.984000	0.76186	2.293000	0.77203	0.462000	0.41574	GAT		0.597	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452030.1		NM_079421		39	105	0	0	0	0.004878	0	39	105		
ILF3	3609	broad.mit.edu	37	19	10793282	10793282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10793282G>A	ENST00000590261.1	+	12	1450	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	ILF3_ENST00000318511.3_Missense_Mutation_p.E484K|ILF3_ENST00000588657.1_Missense_Mutation_p.E484K|ILF3_ENST00000589998.1_Missense_Mutation_p.E484K|ILF3_ENST00000449870.1_Missense_Mutation_p.E484K|ILF3_ENST00000592763.1_Missense_Mutation_p.E484K|ILF3_ENST00000407004.3_Missense_Mutation_p.E484K|ILF3_ENST00000250241.8_Missense_Mutation_p.E484K|ILF3_ENST00000420083.1_Missense_Mutation_p.E484K			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	484					defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGACTCGGCTGAGGAGACCGA	0.647																																						uc002mpn.2		NaN																	0				ovary(3)	3						c.(1450-1452)GAG>AAG		interleukin enhancer binding factor 3 isoform a							53.0	47.0	49.0					19																	10793282		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10793282G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1450G>A	19.37:g.10793282G>A	ENSP00000468156:p.Glu484Lys					ILF3_uc002mpm.2_Missense_Mutation_p.E484K|ILF3_uc002mpl.2_Missense_Mutation_p.E484K|ILF3_uc002mpk.2_Missense_Mutation_p.E484K|ILF3_uc010xli.1_Missense_Mutation_p.E82K|ILF3_uc002mpo.2_Missense_Mutation_p.E484K|ILF3_uc002mpp.2_Missense_Mutation_p.E305K	p.E484K	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		13	1767	+			484					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1450G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447732	0.43429	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.15487	2.42;2.43;2.46;2.43;2.46	5.23	5.23	0.72850	.	0.326895	0.29438	N	0.012154	T	0.10551	0.0258	N	0.14661	0.345	0.36282	D	0.855847	P;B;B;B;B;B	0.42518	0.782;0.4;0.09;0.187;0.007;0.029	B;B;B;B;B;B	0.33620	0.154;0.167;0.032;0.051;0.004;0.023	T	0.17653	-1.0362	10	0.54805	T	0.06	.	16.0746	0.80960	0.0:0.0:1.0:0.0	.	484;484;484;484;484;484	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	K	484	ENSP00000404121:E484K;ENSP00000315205:E484K;ENSP00000405436:E484K;ENSP00000384660:E484K;ENSP00000250241:E484K	ENSP00000250241:E484K	E	+	1	0	ILF3	10654282	1.000000	0.71417	0.933000	0.37362	0.063000	0.16089	5.611000	0.67674	2.599000	0.87857	0.655000	0.94253	GAG		0.647	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1				10	19	0	0	0	0.008291	0	10	19		
ILF3	3609	broad.mit.edu	37	19	10793285	10793285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10793285G>A	ENST00000590261.1	+	12	1453	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	ILF3_ENST00000318511.3_Missense_Mutation_p.E485K|ILF3_ENST00000588657.1_Missense_Mutation_p.E485K|ILF3_ENST00000589998.1_Missense_Mutation_p.E485K|ILF3_ENST00000449870.1_Missense_Mutation_p.E485K|ILF3_ENST00000592763.1_Missense_Mutation_p.E485K|ILF3_ENST00000407004.3_Missense_Mutation_p.E485K|ILF3_ENST00000250241.8_Missense_Mutation_p.E485K|ILF3_ENST00000420083.1_Missense_Mutation_p.E485K			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	485					defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CTCGGCTGAGGAGACCGAGGC	0.647																																						uc002mpn.2		NaN																	0				ovary(3)	3						c.(1453-1455)GAG>AAG		interleukin enhancer binding factor 3 isoform a							53.0	47.0	49.0					19																	10793285		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10793285G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1453G>A	19.37:g.10793285G>A	ENSP00000468156:p.Glu485Lys					ILF3_uc002mpm.2_Missense_Mutation_p.E485K|ILF3_uc002mpl.2_Missense_Mutation_p.E485K|ILF3_uc002mpk.2_Missense_Mutation_p.E485K|ILF3_uc010xli.1_Missense_Mutation_p.E83K|ILF3_uc002mpo.2_Missense_Mutation_p.E485K|ILF3_uc002mpp.2_Missense_Mutation_p.E306K	p.E485K	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		13	1770	+			485					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1453G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792414	0.50102	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.15487	2.42;2.45;2.45;2.43;2.45	5.23	5.23	0.72850	.	0.334555	0.31102	N	0.008252	T	0.15349	0.0370	L	0.29908	0.895	0.36406	D	0.86342	P;P;B;B;P;B	0.41673	0.759;0.571;0.279;0.248;0.608;0.103	B;B;B;B;B;B	0.38712	0.201;0.28;0.081;0.097;0.231;0.058	T	0.09840	-1.0656	10	0.72032	D	0.01	.	16.0746	0.80960	0.0:0.0:1.0:0.0	.	485;485;485;485;485;485	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	K	485	ENSP00000404121:E485K;ENSP00000315205:E485K;ENSP00000405436:E485K;ENSP00000384660:E485K;ENSP00000250241:E485K	ENSP00000250241:E485K	E	+	1	0	ILF3	10654285	1.000000	0.71417	0.979000	0.43373	0.085000	0.17905	4.879000	0.63100	2.599000	0.87857	0.655000	0.94253	GAG		0.647	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1				10	19	0	0	0	0.008291	0	10	19		
ILF3	3609	broad.mit.edu	37	19	10793287	10793287	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10793287G>A	ENST00000590261.1	+	12	1455	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	ILF3_ENST00000318511.3_Silent_p.E485E|ILF3_ENST00000588657.1_Silent_p.E485E|ILF3_ENST00000589998.1_Silent_p.E485E|ILF3_ENST00000449870.1_Silent_p.E485E|ILF3_ENST00000592763.1_Silent_p.E485E|ILF3_ENST00000407004.3_Silent_p.E485E|ILF3_ENST00000250241.8_Silent_p.E485E|ILF3_ENST00000420083.1_Silent_p.E485E			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	485					defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGGCTGAGGAGACCGAGGCGA	0.647																																						uc002mpn.2		NaN																	0				ovary(3)	3						c.(1453-1455)GAG>GAA		interleukin enhancer binding factor 3 isoform a							53.0	47.0	49.0					19																	10793287		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10793287G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1455G>A	19.37:g.10793287G>A						ILF3_uc002mpm.2_Silent_p.E485E|ILF3_uc002mpl.2_Silent_p.E485E|ILF3_uc002mpk.2_Silent_p.E485E|ILF3_uc010xli.1_Silent_p.E83E|ILF3_uc002mpo.2_Silent_p.E485E|ILF3_uc002mpp.2_Silent_p.E306E	p.E485E	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		13	1772	+			485					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.1455G>A	CCDS12246.1																																																																																				0.647	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1				10	19	0	0	0	0.008291	0	10	19		
C19orf52	90580	broad.mit.edu	37	19	11040318	11040318	+	Silent	SNP	G	G	A	rs544987672	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:11040318G>A	ENST00000270502.6	+	2	813	c.723G>A	c.(721-723)aaG>aaA	p.K241K	YIPF2_ENST00000590329.1_5'Flank|YIPF2_ENST00000586748.1_5'Flank|YIPF2_ENST00000253031.2_5'Flank	NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN	chromosome 19 open reading frame 52	241										prostate(1)	1						AGAAGGAGAAGAAGGACAGGC	0.637													G|||	2	0.000399361	0.0	0.0	5008	,	,		16489	0.0		0.0	False		,,,				2504	0.002					uc002mqd.1		NaN																	0					0						c.(721-723)AAG>AAA		hypothetical protein LOC90580							25.0	23.0	24.0					19																	11040318		2201	4296	6497	SO:0001819	synonymous_variant	90580							g.chr19:11040318G>A	BC011833	CCDS12252.1	19p13.2	2011-11-24			ENSG00000142444	ENSG00000142444			25152	protein-coding gene	gene with protein product						12477932	Standard	NM_138358		Approved		uc002mqd.2	Q9BSF4		ENST00000270502.6:c.723G>A	19.37:g.11040318G>A						YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	p.K241K	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN			2	798	+			241					Q96EY6|Q96IT8	Silent	SNP	ENST00000270502.6	37	c.723G>A	CCDS12252.1																																																																																				0.637	C19orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452635.1		NM_138358		15	11	0	0	0	0.003163	0	15	11		
EPOR	2057	broad.mit.edu	37	19	11493835	11493835	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:11493835G>A	ENST00000222139.6	-	2	293	c.189C>T	c.(187-189)ttC>ttT	p.F63F	EPOR_ENST00000592375.2_Silent_p.F63F	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	63					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	CTTCCTCCCAGAAACACACCA	0.682																																						uc002mrj.1		NaN																	0				ovary(1)	1						c.(187-189)TTC>TTT		erythropoietin receptor precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						43.0	48.0	46.0					19																	11493835		2203	4300	6503	SO:0001819	synonymous_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11493835G>A	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.189C>T	19.37:g.11493835G>A						EPOR_uc002mrh.2_5'Flank|EPOR_uc002mri.2_5'UTR|EPOR_uc002mrk.1_5'UTR|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_5'UTR|RGL3_uc002mrn.2_3'UTR|RGL3_uc002mrm.2_3'UTR	p.F63F	NM_000121	NP_000112	P19235	EPOR_HUMAN			2	325	-			63			Extracellular (Potential).		B2RCG4|Q15443|Q2M205	Silent	SNP	ENST00000222139.6	37	c.189C>T	CCDS12260.1																																																																																				0.682	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1				7	21	0	0	0	0.001984	0	7	21		
CCDC151	115948	broad.mit.edu	37	19	11541826	11541826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:11541826C>T	ENST00000356392.4	-	2	346	c.259G>A	c.(259-261)Gct>Act	p.A87T	CCDC151_ENST00000545100.1_Missense_Mutation_p.A33T|CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000591179.1_Missense_Mutation_p.A87T	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	87										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCAAAAAAAGCCTTCCGGTCA	0.522																																						uc002mrs.2		NaN																	0				ovary(1)	1						c.(259-261)GCT>ACT		coiled-coil domain containing 151							112.0	112.0	112.0					19																	11541826		1912	4120	6032	SO:0001583	missense	115948							g.chr19:11541826C>T		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.259G>A	19.37:g.11541826C>T	ENSP00000348757:p.Ala87Thr					CCDC151_uc002mrr.2_Missense_Mutation_p.A22T|CCDC151_uc010dxz.2_Missense_Mutation_p.A87T	p.A87T	NM_145045	NP_659482	A5D8V7	CC151_HUMAN			2	402	-			87					B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.259G>A	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392401	0.62066	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	T;T	0.33865	1.39;2.07	4.88	1.15	0.20763	.	0.136137	0.47455	N	0.000230	T	0.50463	0.1617	M	0.79258	2.445	0.39721	D	0.971468	D;D;D	0.65815	0.987;0.995;0.995	P;P;P	0.61722	0.849;0.893;0.893	T	0.49995	-0.8879	10	0.39692	T	0.17	-9.4194	7.826	0.29315	0.1408:0.691:0.0:0.1682	.	87;87;67	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	T	33;87;66	ENSP00000442987:A33T;ENSP00000348757:A87T	ENSP00000348757:A87T	A	-	1	0	CCDC151	11402826	0.999000	0.42202	1.000000	0.80357	0.547000	0.35210	1.542000	0.36137	0.477000	0.27464	0.491000	0.48974	GCT		0.522	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1		NM_145045		31	132	0	0	0	0.012213	0	31	132		
ACP5	54	broad.mit.edu	37	19	11687879	11687879	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:11687879C>G	ENST00000592828.1	-	4	656	c.254G>C	c.(253-255)aGg>aCg	p.R85T	ACP5_ENST00000433365.2_Missense_Mutation_p.R85T|ACP5_ENST00000218758.5_Missense_Mutation_p.R85T|ACP5_ENST00000412435.2_Missense_Mutation_p.R85T|ACP5_ENST00000590420.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	85					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						GACCTGGAACCTCTTGTCATT	0.562																																						uc002msg.3		NaN																	0				central_nervous_system(1)	1						c.(253-255)AGG>ACG		acid phosphatase 5, tartrate resistant							65.0	65.0	65.0					19																	11687879		2203	4300	6503	SO:0001583	missense	54				water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	g.chr19:11687879C>G	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.254G>C	19.37:g.11687879C>G	ENSP00000468767:p.Arg85Thr					ACP5_uc002msh.3_Missense_Mutation_p.R85T|ACP5_uc002msi.3_Missense_Mutation_p.R85T|ACP5_uc002msj.3_Missense_Mutation_p.R85T|ACP5_uc010dye.1_Missense_Mutation_p.R85T	p.R85T	NM_001611	NP_001602	P13686	PPA5_HUMAN			2	400	-			85					A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	c.254G>C	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	c	26.0	4.694277	0.88735	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	D;D;D	0.84800	-1.9;-1.9;-1.9	4.84	4.84	0.62591	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.93923	0.8055	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94454	0.7670	10	0.44086	T	0.13	-9.6662	16.6957	0.85335	0.0:1.0:0.0:0.0	.	85	P13686	PPA5_HUMAN	T	85	ENSP00000218758:R85T;ENSP00000392374:R85T;ENSP00000413456:R85T	ENSP00000218758:R85T	R	-	2	0	ACP5	11548879	0.996000	0.38824	1.000000	0.80357	0.977000	0.68977	6.613000	0.74192	2.235000	0.73313	0.561000	0.74099	AGG		0.562	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1				10	39	0	0	0	0.010729	0	10	39		
HOOK2	29911	broad.mit.edu	37	19	12885514	12885514	+	Missense_Mutation	SNP	G	G	A	rs373017050		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:12885514G>A	ENST00000397668.3	-	3	246	c.173C>T	c.(172-174)tCg>tTg	p.S58L	HOOK2_ENST00000264827.5_Missense_Mutation_p.S58L|HOOK2_ENST00000589965.1_5'UTR	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	58	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGGATCTTCCGAGATGCCCTG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19464	0.001		0.0	False		,,,				2504	0.0					uc002muy.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(172-174)TCG>TTG		hook homolog 2 isoform 1		G	LEU/SER,LEU/SER	1,3999		0,1,1999	71.0	75.0	74.0		173,173	1.7	0.9	19		74	0,8294		0,0,4147	no	missense,missense	HOOK2	NM_001100176.1,NM_013312.2	145,145	0,1,6146	AA,AG,GG		0.0,0.025,0.0081	possibly-damaging,possibly-damaging	58/718,58/720	12885514	1,12293	2000	4147	6147	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12885514G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.173C>T	19.37:g.12885514G>A	ENSP00000380785:p.Ser58Leu					HOOK2_uc002muz.2_Missense_Mutation_p.S58L|HOOK2_uc002mva.2_Missense_Mutation_p.S58L	p.S58L	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			3	344	-			58			Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.173C>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.251077	0.80135	2.5E-4	0.0	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.18016	2.24;2.24	5.22	1.66	0.24008	.	0.269274	0.32719	N	0.005729	T	0.15565	0.0375	L	0.51422	1.61	0.28430	N	0.917293	D;D	0.54601	0.959;0.967	B;B	0.43783	0.305;0.431	T	0.10520	-1.0626	10	0.87932	D	0	-4.0068	7.1674	0.25698	0.0:0.2624:0.3931:0.3445	.	58;58	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	L	58	ENSP00000380785:S58L;ENSP00000264827:S58L	ENSP00000264827:S58L	S	-	2	0	HOOK2	12746514	1.000000	0.71417	0.921000	0.36526	0.986000	0.74619	2.764000	0.47613	1.287000	0.44583	0.561000	0.74099	TCG		0.587	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1		NM_013312		15	28	0	0	0	0.00499	0	15	28		
MAST1	22983	broad.mit.edu	37	19	12958498	12958498	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:12958498G>A	ENST00000251472.4	+	6	600	c.561G>A	c.(559-561)ccG>ccA	p.P187P	MAST1_ENST00000591495.1_Silent_p.P183P	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAGGTTCCCGAAGGTGAGGT	0.672											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mvm.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(559-561)CCG>CCA		microtubule associated serine/threonine kinase							42.0	41.0	41.0					19																	12958498		2202	4300	6502	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12958498G>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.561G>A	19.37:g.12958498G>A			OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	MAST1_uc002mvk.2_Silent_p.P183P|MAST1_uc002mvl.2_3'UTR	p.P187P	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			6	689	+			187						Silent	SNP	ENST00000251472.4	37	c.561G>A	CCDS32921.1																																																																																				0.672	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2		NM_014975		11	18	0	0	0	0.008291	0	11	18		
NACC1	112939	broad.mit.edu	37	19	13246852	13246852	+	Silent	SNP	C	C	T	rs559883585		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:13246852C>T	ENST00000292431.4	+	2	957	c.831C>T	c.(829-831)tcC>tcT	p.S277S		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	277					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCCCTGGCTCCTACCACAATG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17034	0.0		0.0	False		,,,				2504	0.001					uc002mwm.2		NaN																	0					0						c.(829-831)TCC>TCT		transcriptional repressor NAC1							83.0	82.0	82.0					19																	13246852		2203	4300	6503	SO:0001819	synonymous_variant	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13246852C>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.831C>T	19.37:g.13246852C>T							p.S277S	NM_052876	NP_443108	Q96RE7	NACC1_HUMAN			2	999	+			277						Silent	SNP	ENST00000292431.4	37	c.831C>T	CCDS12294.1																																																																																				0.627	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1		NM_052876		14	12	0	0	0	0.00499	0	14	12		
IER2	9592	broad.mit.edu	37	19	13264058	13264058	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:13264058C>T	ENST00000588173.1	+	1	1270	c.58C>T	c.(58-60)Cac>Tac	p.H20Y	CTC-250I14.6_ENST00000592882.1_RNA|STX10_ENST00000343587.5_5'Flank|IER2_ENST00000587885.1_Missense_Mutation_p.H20Y|CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000292433.3_Missense_Mutation_p.H20Y			Q9BTL4	IER2_HUMAN	immediate early response 2	20						cytoplasm (GO:0005737)				kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GAAGATGTATCACTCCCGCAT	0.667											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mwr.2		NaN																	0				kidney(1)	1						c.(58-60)CAC>TAC		immediate early response 2							25.0	24.0	25.0					19																	13264058		2202	4298	6500	SO:0001583	missense	9592							g.chr19:13264058C>T	M62831	CCDS12295.1	19p13.13	2008-02-05				ENSG00000160888			28871	protein-coding gene	gene with protein product						2061303	Standard	NM_004907		Approved	ETR101	uc002mwr.3	Q9BTL4		ENST00000588173.1:c.58C>T	19.37:g.13264058C>T	ENSP00000465617:p.His20Tyr		OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686		p.H20Y	NM_004907	NP_004898	Q9BTL4	IER2_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		2	386	+			20					Q03827|Q2TAZ2	Missense_Mutation	SNP	ENST00000588173.1	37	c.58C>T	CCDS12295.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144919	0.77888	.	.	ENSG00000160888	ENST00000292433	T	0.10005	2.92	4.73	4.73	0.59995	.	0.418093	0.21408	U	0.075029	T	0.27697	0.0681	M	0.69823	2.125	0.27747	N	0.944278	D	0.53619	0.961	P	0.57204	0.815	T	0.03807	-1.1002	10	0.66056	D	0.02	-9.32	15.1911	0.73044	0.0:1.0:0.0:0.0	.	20	Q9BTL4	IER2_HUMAN	Y	20	ENSP00000292433:H20Y	ENSP00000292433:H20Y	H	+	1	0	IER2	13125058	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.840000	0.39230	2.176000	0.68965	0.462000	0.41574	CAC		0.667	IER2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453033.1		NM_004907		5	5	0	0	0	0.000602	0	5	5		
CACNA1A	773	broad.mit.edu	37	19	13325339	13325339	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:13325339C>G	ENST00000360228.5	-	39	5814	c.5815G>C	c.(5815-5817)Gac>Cac	p.D1939H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D1940H	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	1940					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)	ACCAGCAGGTCTAGCGTCTTC	0.597																																						uc010dze.2		NaN																	0				large_intestine(2)	2						c.(5818-5820)GAC>CAC		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						60.0	64.0	63.0					19																	13325339		2152	4245	6397	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.chr19:13325339C>G	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.5815G>C	19.37:g.13325339C>G	ENSP00000353362:p.Asp1939His					CACNA1A_uc010xnd.1_Missense_Mutation_p.D645H|CACNA1A_uc002mwx.3_Missense_Mutation_p.D645H|CACNA1A_uc010dzc.2_Missense_Mutation_p.D1465H|CACNA1A_uc002mwy.3_Missense_Mutation_p.D1939H|CACNA1A_uc002mwv.3_Missense_Mutation_p.D456H	p.D1940H	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		39	6054	-			1940			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5818G>C	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655935	0.47467	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.71579	-0.58	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.87541	0.6203	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.81914	0.984;0.995;0.995;0.993	D	0.90973	0.4821	10	0.87932	D	0	.	16.4549	0.84009	0.0:1.0:0.0:0.0	.	1940;1945;1939;1940	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	H	1939;1945;1940;1940	ENSP00000353362:D1939H	ENSP00000317661:D1940H	D	-	1	0	CACNA1A	13186339	1.000000	0.71417	0.995000	0.50966	0.535000	0.34838	7.301000	0.78850	2.184000	0.69523	0.491000	0.48974	GAC		0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		NM_000068		8	12	0	0	0	0.004482	0	8	12		
CACNA1A	773	broad.mit.edu	37	19	13470507	13470507	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:13470507C>T	ENST00000360228.5	-	6	890	c.891G>A	c.(889-891)ggG>ggA	p.G297G	CACNA1A_ENST00000573710.2_Silent_p.G297G	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	297					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)	ACTGAGTGATCCCGTTGTTGG	0.547																																						uc010dze.2		NaN																	0				large_intestine(2)	2						c.(889-891)GGG>GGA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						99.0	93.0	95.0					19																	13470507		2050	4209	6259	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13470507C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.891G>A	19.37:g.13470507C>T						CACNA1A_uc002mwy.3_Silent_p.G297G	p.G297G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		6	1127	-			297			I.|Extracellular (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.891G>A	CCDS45998.1																																																																																				0.547	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		NM_000068		3	8	0	0	0	0.004672	0	3	8		
CD97	976	broad.mit.edu	37	19	14507162	14507162	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:14507162G>A	ENST00000242786.5	+	5	435	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.E119K|CD97_ENST00000587728.1_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	119	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGATGTGGACGAATGTCAGCA	0.562																																						uc002myl.2		NaN																	0				ovary(3)|breast(1)	4						c.(355-357)GAA>AAA		CD97 antigen isoform 1 precursor							177.0	145.0	156.0					19																	14507162		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14507162G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.355G>A	19.37:g.14507162G>A	ENSP00000242786:p.Glu119Lys					CD97_uc002mym.2_Missense_Mutation_p.E119K|CD97_uc002myn.2_Intron	p.E119K	NM_078481	NP_510966	P48960	CD97_HUMAN			5	478	+			119			Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.355G>A	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695528	0.68386	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000393059	D;D	0.98849	-5.18;-5.18	4.23	1.66	0.24008	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.96984	0.9015	M	0.85197	2.74	0.25924	N	0.983077	B;P	0.38800	0.236;0.648	B;B	0.30572	0.024;0.117	D	0.92650	0.6132	9	0.42905	T	0.14	.	5.3442	0.16000	0.3414:0.0:0.6586:0.0	.	119;119	P48960-3;P48960	.;CD97_HUMAN	K	119;119;118	ENSP00000242786:E119K;ENSP00000349918:E119K	ENSP00000242786:E119K	E	+	1	0	CD97	14368162	1.000000	0.71417	0.038000	0.18304	0.807000	0.45602	4.676000	0.61627	0.221000	0.20879	0.561000	0.74099	GAA		0.562	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2		NM_078481		25	81	0	0	0	0.00278	0	25	81		
OR7A17	26333	broad.mit.edu	37	19	14991344	14991344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:14991344G>A	ENST00000327462.2	-	1	920	c.824C>T	c.(823-825)tCa>tTa	p.S275L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GTACATCACTGAGGCTGTTGC	0.473																																						uc010xob.1		NaN																	0					0						c.(823-825)TCA>TTA		olfactory receptor, family 7, subfamily A,							103.0	91.0	96.0					19																	14991344		2203	4300	6503	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991344G>A	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.824C>T	19.37:g.14991344G>A	ENSP00000328144:p.Ser275Leu						p.S275L	NM_030901	NP_112163	O14581	OR7AH_HUMAN			1	824	-	Ovarian(108;0.203)		275			Helical; Name=7; (Potential).		Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.824C>T	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	g	18.60	3.658517	0.67586	.	.	ENSG00000185385	ENST00000327462	T	0.00265	8.39	3.37	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33670	U	0.004669	T	0.00666	0.0022	H	0.95574	3.69	0.09310	N	1	P	0.47191	0.891	P	0.60173	0.87	T	0.10800	-1.0614	10	0.72032	D	0.01	.	9.0042	0.36102	0.1168:0.0:0.8832:0.0	.	275	O14581	OR7AH_HUMAN	L	275	ENSP00000328144:S275L	ENSP00000328144:S275L	S	-	2	0	OR7A17	14852344	0.000000	0.05858	0.014000	0.15608	0.202000	0.24057	0.330000	0.19715	0.774000	0.33427	0.454000	0.30748	TCA		0.473	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1		NM_030901		27	74	0	0	0	0.005443	0	27	74		
CYP4F22	126410	broad.mit.edu	37	19	15648197	15648197	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:15648197C>T	ENST00000269703.3	+	5	592	c.393C>T	c.(391-393)ctC>ctT	p.L131L	CYP4F22_ENST00000601005.2_Silent_p.L131L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	131						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGGATGACCTCTTCTATGGCT	0.502																																						uc002nbh.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(391-393)CTC>CTT		cytochrome P450, family 4, subfamily F,							79.0	82.0	81.0					19																	15648197		2203	4300	6503	SO:0001819	synonymous_variant	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15648197C>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.393C>T	19.37:g.15648197C>T							p.L131L	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			5	560	+			131					Q8N8H4	Silent	SNP	ENST00000269703.3	37	c.393C>T	CCDS12331.1																																																																																				0.502	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2		NM_173483		20	72	0	0	0	0.00333	0	20	72		
EPS15L1	58513	broad.mit.edu	37	19	16535906	16535906	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:16535906G>A	ENST00000248070.6	-	9	919	c.780C>T	c.(778-780)ctC>ctT	p.L260L	EPS15L1_ENST00000455140.2_Silent_p.L260L|EPS15L1_ENST00000602009.1_Silent_p.L106L|EPS15L1_ENST00000597937.1_Silent_p.L260L|EPS15L1_ENST00000594975.1_Silent_p.L260L|EPS15L1_ENST00000535753.2_Silent_p.L260L	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	260	Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GTGTTTGCTTGAGGCTGTGCT	0.622																																						uc002ndz.1		NaN																	0				ovary(3)|skin(2)	5						c.(778-780)CTC>CTT		epidermal growth factor receptor pathway							55.0	55.0	55.0					19																	16535906		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16535906G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.780C>T	19.37:g.16535906G>A						EPS15L1_uc002ndx.2_Silent_p.L260L|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.L150L|EPS15L1_uc010xpf.1_Silent_p.L163L|EPS15L1_uc002nea.1_Silent_p.L260L|EPS15L1_uc010eah.1_Silent_p.L260L|EPS15L1_uc002neb.1_Silent_p.L106L|EPS15L1_uc002nec.1_Silent_p.L260L	p.L260L	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			9	786	-			260					A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.780C>T	CCDS32944.1																																																																																				0.622	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1		NM_021235		16	60	0	0	0	0.00499	0	16	60		
OCEL1	79629	broad.mit.edu	37	19	17339098	17339098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17339098G>T	ENST00000215061.4	+	5	696	c.652G>T	c.(652-654)Gag>Tag	p.E218*	OCEL1_ENST00000597836.1_Nonsense_Mutation_p.E162*|OCEL1_ENST00000601529.1_Silent_p.G162G	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	218										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						GGTTTGGAGGGAGTTTGAGAT	0.527																																						uc002nfp.2		NaN																	0				central_nervous_system(1)	1						c.(652-654)GAG>TAG		occludin/ELL domain containing 1							134.0	131.0	132.0					19																	17339098		2203	4300	6503	SO:0001587	stop_gained	79629							g.chr19:17339098G>T	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.652G>T	19.37:g.17339098G>T	ENSP00000215061:p.Glu218*						p.E218*	NM_024578	NP_078854	Q9H607	OCEL1_HUMAN			5	654	+			218						Nonsense_Mutation	SNP	ENST00000215061.4	37	c.652G>T	CCDS12351.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515605	0.44763	.	.	ENSG00000099330	ENST00000215061	.	.	.	4.32	3.28	0.37604	.	0.188589	0.45126	D	0.000396	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-19.8228	8.3441	0.32261	0.1092:0.0:0.8908:0.0	.	.	.	.	X	218	.	ENSP00000215061:E218X	E	+	1	0	OCEL1	17200098	0.976000	0.34144	0.996000	0.52242	0.170000	0.22686	0.148000	0.16224	1.171000	0.42768	0.561000	0.74099	GAG		0.527	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1		NM_024578		35	90	1	0	7.11191e-15	0.013726	7.46269e-15	35	90		
USHBP1	83878	broad.mit.edu	37	19	17375060	17375060	+	Missense_Mutation	SNP	G	G	A	rs149022063	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17375060G>A	ENST00000252597.3	-	2	222	c.49C>T	c.(49-51)Cca>Tca	p.P17S	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.L2L	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTTACGGGTGGAGCATGCCTC	0.652																																						uc002nfs.1		NaN																	0				ovary(1)	1						c.(49-51)CCA>TCA		Usher syndrome 1C binding protein 1							59.0	50.0	53.0					19																	17375060		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17375060G>A	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.49C>T	19.37:g.17375060G>A	ENSP00000252597:p.Pro17Ser					USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.L2L|USHBP1_uc010eam.1_5'UTR	p.P17S	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			2	162	-			17						Missense_Mutation	SNP	ENST00000252597.3	37	c.49C>T	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670099	0.29693	.	.	ENSG00000130307	ENST00000252597;ENST00000324554	T	0.23147	1.92	3.75	1.51	0.23008	.	0.557554	0.15270	N	0.271284	T	0.14570	0.0352	L	0.27053	0.805	0.09310	N	1	B	0.34103	0.437	B	0.29862	0.108	T	0.14643	-1.0465	10	0.56958	D	0.05	-0.6236	5.6941	0.17845	0.1163:0.2003:0.6834:0.0	.	17	Q8N6Y0	USBP1_HUMAN	S	17	ENSP00000252597:P17S	ENSP00000252597:P17S	P	-	1	0	USHBP1	17236060	0.010000	0.17322	0.000000	0.03702	0.219000	0.24729	1.911000	0.39937	0.338000	0.23692	-0.502000	0.04539	CCA		0.652	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1		NM_031941		4	21	0	0	0	0.000602	0	4	21		
PLVAP	83483	broad.mit.edu	37	19	17476312	17476312	+	Missense_Mutation	SNP	G	G	A	rs376519104		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17476312G>A	ENST00000252590.4	-	3	1023	c.962C>T	c.(961-963)gCg>gTg	p.A321V	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	321					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTCTGTTTCGCCTCCTGACT	0.667																																						uc002ngk.1		NaN																	0					0						c.(961-963)GCG>GTG		plasmalemma vesicle associated protein		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	45.0	39.0	41.0		962	4.3	0.2	19		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLVAP	NM_031310.1	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	321/443	17476312	2,13004	2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476312G>A	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.962C>T	19.37:g.17476312G>A	ENSP00000252590:p.Ala321Val						p.A321V	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	1012	-			321			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.962C>T	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696651	0.30142	2.27E-4	1.16E-4	ENSG00000130300	ENST00000252590	.	.	.	5.42	4.3	0.51218	.	0.632389	0.17342	N	0.177726	T	0.50222	0.1603	L	0.32530	0.975	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.31861	-0.9928	9	0.40728	T	0.16	-30.5233	12.108	0.53823	0.0:0.0:0.8169:0.1831	.	321	Q9BX97	PLVAP_HUMAN	V	321	.	ENSP00000252590:A321V	A	-	2	0	PLVAP	17337312	0.434000	0.25570	0.229000	0.23960	0.026000	0.11368	0.874000	0.28065	2.545000	0.85829	0.462000	0.41574	GCG		0.667	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1		NM_031310		9	33	0	0	0	0.004482	0	9	33		
SLC27A1	376497	broad.mit.edu	37	19	17608118	17608118	+	Missense_Mutation	SNP	G	G	A	rs371654438		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17608118G>A	ENST00000252595.7	+	7	1148	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	SLC27A1_ENST00000442725.1_Missense_Mutation_p.E351K|SLC27A1_ENST00000598424.1_Missense_Mutation_p.E172K|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	351	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCCGGTGCGCGAGGCGGAGAG	0.687																																						uc002ngu.1		NaN																	0					0						c.(1051-1053)GAG>AAG		solute carrier family 27, member 1		G	LYS/GLU	1,4403	2.1+/-5.4	0,1,2201	44.0	37.0	39.0		1051	3.1	0.6	19		39	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLC27A1	NM_198580.1	56	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	benign	351/647	17608118	2,12998	2202	4298	6500	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17608118G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1051G>A	19.37:g.17608118G>A	ENSP00000252595:p.Glu351Lys					SLC27A1_uc002ngt.1_Missense_Mutation_p.E83K|SLC27A1_uc010xpp.1_Missense_Mutation_p.E172K|SLC27A1_uc002ngv.1_5'UTR	p.E351K	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN			7	1101	+			351			Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1051G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878267	0.51801	2.27E-4	1.16E-4	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.38887	1.11;1.11	4.25	3.13	0.36017	AMP-dependent synthetase/ligase (1);	0.569714	0.17931	N	0.157178	T	0.35970	0.0950	L	0.50919	1.6	0.25101	N	0.990789	B;B;B	0.25667	0.055;0.131;0.131	B;B;B	0.21917	0.037;0.025;0.025	T	0.20940	-1.0260	10	0.33940	T	0.23	-1.6048	12.448	0.55662	0.0:0.1705:0.8295:0.0	.	172;351;351	B7Z662;Q6PCB7;B7Z3U1	.;S27A1_HUMAN;.	K	351	ENSP00000413424:E351K;ENSP00000252595:E351K	ENSP00000252595:E351K	E	+	1	0	SLC27A1	17469118	1.000000	0.71417	0.556000	0.28293	0.987000	0.75469	4.403000	0.59729	2.075000	0.62263	0.456000	0.33151	GAG		0.687	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1		NM_198580		3	10	0	0	0	0.001984	0	3	10		
JAK3	3718	broad.mit.edu	37	19	17942579	17942579	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17942579C>T	ENST00000527670.1	-	19	2738	c.2709G>A	c.(2707-2709)gaG>gaA	p.E903E	JAK3_ENST00000534444.1_Silent_p.E903E|JAK3_ENST00000458235.1_Silent_p.E903E			P52333	JAK3_HUMAN	Janus kinase 3	903	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGGGCAGGTACTCCATGACCA	0.662		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		0				haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(2707-2709)GAG>GAA		Janus kinase 3							17.0	20.0	19.0					19																	17942579		2178	4274	6452	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17942579C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2709G>A	19.37:g.17942579C>T						JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.E903E	p.E903E	NM_000215	NP_000206	P52333	JAK3_HUMAN			20	2809	-			903			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.2709G>A	CCDS12366.1																																																																																				0.662	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1		NM_000215		7	16	0	0	0	0.004482	0	7	16		
NCAN	1463	broad.mit.edu	37	19	19359535	19359535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:19359535G>T	ENST00000252575.6	+	14	3763	c.3664G>T	c.(3664-3666)Gag>Tag	p.E1222*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.E673*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1222	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TCCGGCAGTGGAGAATGCCTC	0.532																																						uc002nlz.2		NaN																	0				ovary(4)	4						c.(3664-3666)GAG>TAG		chondroitin sulfate proteoglycan 3 precursor							90.0	68.0	76.0					19																	19359535		2203	4300	6503	SO:0001587	stop_gained	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19359535G>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3664G>T	19.37:g.19359535G>T	ENSP00000252575:p.Glu1222*					NCAN_uc002nma.2_5'UTR	p.E1222*	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		14	3763	+			1222			Sushi.		Q9UPK6	Nonsense_Mutation	SNP	ENST00000252575.6	37	c.3664G>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	38	6.708193	0.97780	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	.	.	.	4.54	3.5	0.40072	.	0.879547	0.09275	N	0.824609	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	6.162	0.20370	0.1016:0.2091:0.6893:0.0	.	.	.	.	X	1236;1222;673	.	ENSP00000252575:E1222X	E	+	1	0	NCAN	19220535	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	2.217000	0.42880	1.128000	0.42052	0.536000	0.68110	GAG		0.532	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2		NM_004386		7	24	1	0	2.0095e-06	0.001984	2.05981e-06	7	24		
SUGP1	57794	broad.mit.edu	37	19	19420949	19420949	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:19420949G>A	ENST00000247001.5	-	3	614	c.267C>T	c.(265-267)ttC>ttT	p.F89F	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Silent_p.F89F	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	89					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						ACTGCTGCAAGAAGCTACCAT	0.517																																						uc002nmh.2		NaN																	0					0						c.(265-267)TTC>TTT		splicing factor 4							155.0	125.0	135.0					19																	19420949		2203	4300	6503	SO:0001819	synonymous_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19420949G>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.267C>T	19.37:g.19420949G>A						SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_Intron|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA	p.F89F	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			3	269	-			89					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Silent	SNP	ENST00000247001.5	37	c.267C>T	CCDS12399.1																																																																																				0.517	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4		NM_021164		15	65	0	0	0	0.004007	0	15	65		
PBX4	80714	broad.mit.edu	37	19	19675894	19675894	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:19675894G>A	ENST00000251203.9	-	6	1059	c.773C>T	c.(772-774)tCt>tTt	p.S258F		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	258					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						AAACCAGTTAGAGACCTGCGG	0.532																																						uc002nmy.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(772-774)TCT>TTT		pre-B-cell leukemia homeobox 4							210.0	220.0	217.0					19																	19675894		2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19675894G>A	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.773C>T	19.37:g.19675894G>A	ENSP00000251203:p.Ser258Phe					PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_Missense_Mutation_p.S93F	p.S258F	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN			6	774	-			258			Homeobox; TALE-type.		A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.773C>T	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956451	0.73902	.	.	ENSG00000105717	ENST00000251203	D	0.96041	-3.89	3.85	3.85	0.44370	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97751	0.9262	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98406	1.0570	10	0.87932	D	0	-7.6416	13.3814	0.60768	0.0:0.0:1.0:0.0	.	258	Q9BYU1	PBX4_HUMAN	F	258	ENSP00000251203:S258F	ENSP00000251203:S258F	S	-	2	0	PBX4	19536894	1.000000	0.71417	0.989000	0.46669	0.926000	0.56050	8.270000	0.89880	2.011000	0.59026	0.505000	0.49811	TCT		0.532	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6				123	129	0	0	0	0.01441	0	123	129		
ZNF493	284443	broad.mit.edu	37	19	21607496	21607496	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:21607496C>G	ENST00000355504.4	+	2	1917	c.1651C>G	c.(1651-1653)Cat>Gat	p.H551D	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.H679D	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H551Y(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAGATAATTCATACTGAAGA	0.348																																						uc002npx.2		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(1)	1						c.(1651-1653)CAT>GAT		zinc finger protein 493 isoform 1							32.0	37.0	35.0					19																	21607496		2198	4295	6493	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607496C>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1651C>G	19.37:g.21607496C>G	ENSP00000347691:p.His551Asp					ZNF493_uc002npw.2_Missense_Mutation_p.H679D|ZNF493_uc002npy.2_Missense_Mutation_p.H551D	p.H551D	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	1931	+			551			C2H2-type 19.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1651C>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	14.20	2.464196	0.43736	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.67698	-0.28;-0.28	1.06	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84687	0.5527	H	0.95950	3.745	0.80722	D	1	D;P	0.89917	1.0;0.947	D;B	0.91635	0.999;0.433	D	0.84807	0.0788	9	0.87932	D	0	.	8.9275	0.35650	0.0:1.0:0.0:0.0	.	551;679	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	D	679;551	ENSP00000376110:H679D;ENSP00000347691:H551D	ENSP00000347691:H551D	H	+	1	0	ZNF493	21399336	0.892000	0.30473	0.003000	0.11579	0.003000	0.03518	2.757000	0.47557	0.458000	0.26988	0.467000	0.42956	CAT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1		NM_175910		7	36	0	0	0	0.001984	0	7	36		
ZNF429	353088	broad.mit.edu	37	19	21719352	21719352	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:21719352G>C	ENST00000358491.4	+	4	705	c.497G>C	c.(496-498)aGa>aCa	p.R166T	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TACAAGACAAGACATACTGGA	0.313																																						uc002nqd.1		NaN																	0				ovary(2)	2						c.(496-498)AGA>ACA		zinc finger protein 429							45.0	47.0	46.0					19																	21719352		2185	4292	6477	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719352G>C	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.497G>C	19.37:g.21719352G>C	ENSP00000351280:p.Arg166Thr					ZNF429_uc010ecu.1_Intron	p.R166T	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	634	+			166			C2H2-type 1; degenerate.		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.497G>C	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.487	-0.877308	0.02550	.	.	ENSG00000197013	ENST00000358491	T	0.26373	1.74	1.01	-0.855	0.10700	.	.	.	.	.	T	0.14787	0.0357	N	0.05124	-0.11	0.09310	N	1	D	0.57571	0.98	P	0.55749	0.783	T	0.10019	-1.0648	9	0.10902	T	0.67	.	3.2416	0.06783	0.1953:0.0:0.5589:0.2458	.	166	Q86V71	ZN429_HUMAN	T	166	ENSP00000351280:R166T	ENSP00000351280:R166T	R	+	2	0	ZNF429	21511192	0.485000	0.25972	0.002000	0.10522	0.002000	0.02628	0.563000	0.23547	-0.408000	0.07565	-0.396000	0.06452	AGA		0.313	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1		NM_001001415		7	54	0	0	0	0.001984	0	7	54		
ZNF676	163223	broad.mit.edu	37	19	22364107	22364107	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:22364107C>T	ENST00000397121.2	-	3	729	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAACCTTTCTCTCCAGTATGC	0.318																																						uc002nqs.1		NaN																	0					0						c.(412-414)GAG>AAG		zinc finger protein 676							121.0	118.0	119.0					19																	22364107		2027	4203	6230	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364107C>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.412G>A	19.37:g.22364107C>T	ENSP00000380310:p.Glu138Lys						p.E138K	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	730	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	138					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.412G>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431248	0.00184	.	.	ENSG00000196109	ENST00000397121	T	0.34859	1.34	0.601	-1.2	0.09554	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18257	0.0438	N	0.16201	0.385	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.30851	-0.9964	9	0.15499	T	0.54	.	8.6397	0.33970	0.0:0.8095:0.0:0.1905	.	138	Q8N7Q3	ZN676_HUMAN	K	138	ENSP00000380310:E138K	ENSP00000380310:E138K	E	-	1	0	ZNF676	22155947	0.021000	0.18746	0.002000	0.10522	0.039000	0.13416	0.444000	0.21661	-1.425000	0.01997	-1.497000	0.00963	GAG		0.318	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1		NM_001001411		21	105	0	0	0	0.014323	0	21	105		
ZNF254	9534	broad.mit.edu	37	19	24309428	24309428	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:24309428C>T	ENST00000357002.4	+	4	741	c.626C>T	c.(625-627)tCc>tTc	p.S209F	ZNF254_ENST00000342944.6_Missense_Mutation_p.S124F	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	209					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAGAGAAGTCCTACAAATGT	0.303																																						uc002nru.2		NaN																	0					0						c.(625-627)TCC>TTC		zinc finger protein 254							56.0	63.0	60.0					19																	24309428		2203	4290	6493	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309428C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.626C>T	19.37:g.24309428C>T	ENSP00000349494:p.Ser209Phe					ZNF254_uc010xrk.1_Missense_Mutation_p.S124F	p.S209F	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	760	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	209					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.626C>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	9.225	1.034347	0.19590	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.42900	0.96;0.96	0.926	0.926	0.19430	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29783	0.0744	L	0.33668	1.02	0.30416	N	0.778614	B	0.18013	0.025	B	0.19391	0.025	T	0.27191	-1.0081	9	0.49607	T	0.09	.	7.1879	0.25809	0.0:1.0:0.0:0.0	.	209	O75437	ZN254_HUMAN	F	124;209;209	ENSP00000445527:S124F;ENSP00000349494:S209F	ENSP00000445527:S124F	S	+	2	0	ZNF254	24101268	0.002000	0.14202	0.056000	0.19401	0.157000	0.22087	1.591000	0.36665	0.308000	0.22923	0.313000	0.20887	TCC		0.303	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1		NM_004876		21	66	0	0	0	0.012319	0	21	66		
ZNF507	22847	broad.mit.edu	37	19	32845546	32845546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:32845546G>A	ENST00000311921.4	+	2	2002	c.1810G>A	c.(1810-1812)Gac>Aac	p.D604N	ZNF507_ENST00000355898.5_Missense_Mutation_p.D604N|ZNF507_ENST00000544431.1_Missense_Mutation_p.D604N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	604					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAACGCTTCAGACGATGACAT	0.468																																						uc002nte.2		NaN																	0				ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1810-1812)GAC>AAC		zinc finger protein 507							87.0	79.0	82.0					19																	32845546		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32845546G>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1810G>A	19.37:g.32845546G>A	ENSP00000312277:p.Asp604Asn					ZNF507_uc002ntc.2_Missense_Mutation_p.D604N|ZNF507_uc010xrn.1_Missense_Mutation_p.D604N|ZNF507_uc002ntd.2_Missense_Mutation_p.D604N	p.D604N	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			3	2082	+	Esophageal squamous(110;0.162)		604					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.1810G>A	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295166	0.81025	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.07327	3.49;3.49;3.2	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	M	0.66939	2.045	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01578	-1.1320	10	0.18276	T	0.48	.	19.6895	0.95993	0.0:0.0:1.0:0.0	.	604;604	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	N	604	ENSP00000348162:D604N;ENSP00000312277:D604N;ENSP00000441549:D604N	ENSP00000312277:D604N	D	+	1	0	ZNF507	37537386	1.000000	0.71417	0.940000	0.37924	0.670000	0.39368	9.476000	0.97823	2.644000	0.89710	0.591000	0.81541	GAC		0.468	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3		NM_014910		6	41	0	0	0	0.001984	0	6	41		
C19orf40	91442	broad.mit.edu	37	19	33467474	33467474	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:33467474C>T	ENST00000588258.1	+	5	644	c.534C>T	c.(532-534)ctC>ctT	p.L178L	C19orf40_ENST00000590281.1_Silent_p.L178L|C19orf40_ENST00000589646.1_Silent_p.L83L|C19orf40_ENST00000590179.1_Silent_p.L83L	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	178	RuvA domain 2-like.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					CCCTTCTCCTCCAGAAGTTTC	0.542								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002nud.3		NaN																	0					0						c.(532-534)CTC>CTT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia-associated protein, 24 kDa							132.0	118.0	123.0					19																	33467474		2203	4300	6503	SO:0001819	synonymous_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33467474C>T	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.534C>T	19.37:g.33467474C>T			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840		p.L178L	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN			5	652	+	Esophageal squamous(110;0.137)		178			RuvA domain 2-like.		B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	c.534C>T	CCDS12426.1																																																																																				0.542	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2		NM_152266		29	114	0	0	0	0.00632	0	29	114		
GPATCH1	55094	broad.mit.edu	37	19	33579137	33579137	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:33579137C>T	ENST00000170564.2	+	2	485	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	57					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTGGAGGTTTCTCTGCTGGAT	0.383																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1		NaN																	0				skin(1)	1						c.(169-171)TTC>TTT		G patch domain containing 1							102.0	106.0	105.0					19																	33579137		2203	4300	6503	SO:0001819	synonymous_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33579137C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.171C>T	19.37:g.33579137C>T							p.F57F	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			2	485	+	Esophageal squamous(110;0.137)		57					Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	c.171C>T	CCDS12428.1																																																																																				0.383	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1		NM_018025		26	59	0	0	0	0.007291	0	26	59		
ZNF302	55900	broad.mit.edu	37	19	35175770	35175770	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:35175770G>A	ENST00000446502.2	+	6	1168	c.960G>A	c.(958-960)caG>caA	p.Q320Q	ZNF302_ENST00000505242.1_Silent_p.Q276Q|ZNF302_ENST00000423823.2_Silent_p.Q276Q|ZNF302_ENST00000457781.2_Silent_p.Q276Q|ZNF302_ENST00000505365.2_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTAACCATCAGAGCACTCACA	0.438																																						uc002nvr.1		NaN																	0					0						c.(958-960)CAG>CAA		zinc finger protein 302							90.0	89.0	89.0					19																	35175770		2203	4300	6503	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175770G>A	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.960G>A	19.37:g.35175770G>A						ZNF302_uc002nvp.1_Silent_p.Q276Q|ZNF302_uc002nvq.1_Silent_p.Q276Q|ZNF302_uc002nvs.1_Silent_p.Q276Q	p.Q320Q	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		6	1223	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		355			C2H2-type 3.		Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.960G>A																																																																																					0.438	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1				18	68	0	0	0	0.008871	0	18	68		
ZNF792	126375	broad.mit.edu	37	19	35451187	35451187	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:35451187C>T	ENST00000404801.1	-	3	621	c.235G>A	c.(235-237)Gat>Aat	p.D79N	ZNF792_ENST00000605484.1_Missense_Mutation_p.D12N	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GATGTCATATCCACACTGTCA	0.537																																					GBM(1;7 183 21053 22581 22847)	uc002nxh.1		NaN																	0					0						c.(235-237)GAT>AAT		zinc finger protein 792							111.0	79.0	90.0					19																	35451187		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35451187C>T	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.235G>A	19.37:g.35451187C>T	ENSP00000385099:p.Asp79Asn						p.D79N	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	622	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		79			KRAB.		B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.235G>A	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	10.83	1.461892	0.26248	.	.	ENSG00000180884	ENST00000404801	T	0.06849	3.25	2.96	1.92	0.25849	Krueppel-associated box (1);	.	.	.	.	T	0.03959	0.0111	N	0.11756	0.17	0.19775	N	0.999951	B	0.25312	0.123	B	0.15870	0.014	T	0.45145	-0.9281	9	0.18710	T	0.47	.	5.9892	0.19452	0.0:0.8537:0.0:0.1463	.	79	Q3KQV3	ZN792_HUMAN	N	79	ENSP00000385099:D79N	ENSP00000385099:D79N	D	-	1	0	ZNF792	40143027	0.004000	0.15560	0.486000	0.27416	0.966000	0.64601	0.334000	0.19787	0.821000	0.34540	0.563000	0.77884	GAT		0.537	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1		NM_175872		7	35	0	0	0	0.008291	0	7	35		
GRAMD1A	57655	broad.mit.edu	37	19	35512680	35512680	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:35512680G>A	ENST00000317991.5	+	15	1857	c.1665G>A	c.(1663-1665)cgG>cgA	p.R555R	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000504615.2_Silent_p.R321R|GRAMD1A_ENST00000599564.1_Silent_p.R642R|GRAMD1A_ENST00000411896.2_Silent_p.R548R	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	555						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCGGCGGCGGAAGCGGCCCC	0.682																																						uc010xse.1		NaN																	0					0						c.(1663-1665)CGG>CGA		GRAM domain containing 1A isoform 1							19.0	24.0	22.0					19																	35512680		1854	4089	5943	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35512680G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1665G>A	19.37:g.35512680G>A						GRAMD1A_uc002nxk.2_Silent_p.R548R|GRAMD1A_uc002nxl.2_Silent_p.R321R|GRAMD1A_uc010xsf.1_Silent_p.R560R|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Silent_p.R170R	p.R555R	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		15	1802	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		555					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.1665G>A	CCDS42546.1																																																																																				0.682	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1		NM_020895		7	17	0	0	0	0.004482	0	7	17		
ARHGAP33	115703	broad.mit.edu	37	19	36278895	36278895	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:36278895C>T	ENST00000007510.4	+	21	3572	c.3428C>T	c.(3427-3429)tCc>tTc	p.S1143F	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S979F|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S982F			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1143					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCAGCCCCCTCCTGCTTTCCC	0.667																																						uc002obs.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(2944-2946)TCC>TTC		sorting nexin 26							20.0	23.0	22.0					19																	36278895		2199	4295	6494	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278895C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3428C>T	19.37:g.36278895C>T	ENSP00000007510:p.Ser1143Phe					ARHGAP33_uc002obt.1_Missense_Mutation_p.S979F|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.S731F	p.S982F	NM_052948	NP_443180	O14559	RHG33_HUMAN			21	3030	+			1143					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.2945C>T		.	.	.	.	.	.	.	.	.	.	c	13.55	2.270135	0.40194	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.13196	3.06;2.61;2.99	4.84	3.72	0.42706	.	0.458193	0.18672	N	0.134401	T	0.15089	0.0364	N	0.14661	0.345	0.36445	D	0.86573	P;P	0.52061	0.95;0.95	P;P	0.53809	0.735;0.653	T	0.16719	-1.0393	10	0.72032	D	0.01	.	13.0765	0.59089	0.1615:0.8385:0.0:0.0	.	979;982	O14559-10;O14559-11	.;.	F	1143;982;979	ENSP00000007510:S1143F;ENSP00000320038:S982F;ENSP00000368227:S979F	ENSP00000007510:S1143F	S	+	2	0	ARHGAP33	40970735	0.328000	0.24687	1.000000	0.80357	0.840000	0.47671	1.888000	0.39708	2.418000	0.82041	0.457000	0.33378	TCC		0.667	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding			NM_052948		3	8	0	0	0	0.004672	0	3	8		
WDR62	284403	broad.mit.edu	37	19	36590419	36590419	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:36590419A>G	ENST00000270301.7	+	22	2639	c.2639A>G	c.(2638-2640)cAg>cGg	p.Q880R	WDR62_ENST00000401500.2_Missense_Mutation_p.Q880R			O43379	WDR62_HUMAN	WD repeat domain 62	880					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGGATGCCCAGGACCTGGAT	0.632																																						uc002odc.2		NaN																	0					0						c.(2638-2640)CAG>CGG		WD repeat domain 62 isoform 2							69.0	71.0	70.0					19																	36590419		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36590419A>G	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2639A>G	19.37:g.36590419A>G	ENSP00000270301:p.Gln880Arg					WDR62_uc002odd.2_Missense_Mutation_p.Q880R	p.Q880R	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		22	2730	+	Esophageal squamous(110;0.162)		880					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.2639A>G	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	A	2.563	-0.301454	0.05495	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.27256	1.68;1.68	5.31	0.449	0.16619	.	0.530450	0.16605	N	0.207158	T	0.05868	0.0153	N	0.00972	-1.085	0.54753	D	0.999981	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.41466	-0.9507	10	0.02654	T	1	-6.0819	6.8013	0.23752	0.4473:0.0:0.5527:0.0	.	880;880	O43379-4;O43379	.;WDR62_HUMAN	R	880	ENSP00000384792:Q880R;ENSP00000270301:Q880R	ENSP00000270301:Q880R	Q	+	2	0	WDR62	41282259	0.006000	0.16342	0.492000	0.27490	0.987000	0.75469	0.058000	0.14301	0.139000	0.18822	-0.408000	0.06270	CAG		0.632	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1		NM_015671		33	47	0	0	0	0.010818	0	33	47		
ZNF565	147929	broad.mit.edu	37	19	36673778	36673778	+	Missense_Mutation	SNP	C	C	T	rs371870784		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:36673778C>T	ENST00000355114.5	-	5	1936	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	ZNF565_ENST00000304116.5_Missense_Mutation_p.E364K|ZNF565_ENST00000392173.2_Missense_Mutation_p.E364K			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCCTTACACTCATAGGGTTTC	0.488																																						uc002odn.2		NaN																	0				ovary(1)|skin(1)	2						c.(1090-1092)GAG>AAG		zinc finger protein 565							116.0	99.0	105.0					19																	36673778		2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673778C>T	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1210G>A	19.37:g.36673778C>T	ENSP00000347234:p.Glu404Lys					ZNF565_uc010ees.2_Missense_Mutation_p.E299K|ZNF565_uc002odo.2_Missense_Mutation_p.E364K	p.E364K	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1198	-	Esophageal squamous(110;0.162)		364			C2H2-type 8.		B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.1090G>A		.	.	.	.	.	.	.	.	.	.	c	7.867	0.727319	0.15439	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.18657	3.28;3.28;2.2	4.7	3.66	0.41972	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.175994	0.27486	N	0.019156	T	0.04815	0.0130	N	0.00572	-1.36	0.09310	N	1	B	0.29716	0.255	B	0.25987	0.065	T	0.28364	-1.0046	10	0.22109	T	0.4	.	6.0976	0.20028	0.1855:0.7189:0.0:0.0956	.	364	Q8N9K5	ZN565_HUMAN	K	364;364;404	ENSP00000376013:E364K;ENSP00000306869:E364K;ENSP00000347234:E404K	ENSP00000306869:E364K	E	-	1	0	ZNF565	41365618	0.000000	0.05858	0.969000	0.41365	0.082000	0.17680	-1.882000	0.01624	1.345000	0.45676	-0.142000	0.14014	GAG		0.488	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1		NM_152477		30	71	0	0	0	0.012213	0	30	71		
SIPA1L3	23094	broad.mit.edu	37	19	38597188	38597188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:38597188G>A	ENST00000222345.6	+	7	2550	c.2041G>A	c.(2041-2043)Gga>Aga	p.G681R	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	681	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGACTCCACGGGAACCCACTC	0.507																																						uc002ohk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2041-2043)GGA>AGA		signal-induced proliferation-associated 1 like							173.0	141.0	152.0					19																	38597188		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38597188G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2041G>A	19.37:g.38597188G>A	ENSP00000222345:p.Gly681Arg						p.G681R	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		7	2550	+			681			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2041G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824778	0.90955	.	.	ENSG00000105738	ENST00000222345	D	0.99499	-6.02	5.15	5.15	0.70609	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.98629	4.285	0.80722	D	1	D	0.56968	0.978	D	0.76575	0.988	D	0.96963	0.9703	10	0.87932	D	0	-18.1328	17.552	0.87879	0.0:0.0:1.0:0.0	.	681	O60292	SI1L3_HUMAN	R	681	ENSP00000222345:G681R	ENSP00000222345:G681R	G	+	1	0	SIPA1L3	43289028	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	9.636000	0.98440	2.692000	0.91855	0.655000	0.94253	GGA		0.507	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		XM_032278		8	103	0	0	0	0.010729	0	8	103		
IFNL3	282617	broad.mit.edu	37	19	39734518	39734518	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39734518C>G	ENST00000413851.2	-	4	476	c.438G>C	c.(436-438)agG>agC	p.R146S		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	146					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GGCCCCGGGTCCTGGGCCCTG	0.687																																						uc010xut.1		NaN																	0					0						c.(436-438)AGG>AGC		interleukin 28B							20.0	27.0	24.0					19																	39734518		2196	4286	6482	SO:0001583	missense	282617				response to virus	extracellular space	cytokine activity	g.chr19:39734518C>G	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.438G>C	19.37:g.39734518C>G	ENSP00000409000:p.Arg146Ser					IL28B_uc010xuu.1_Missense_Mutation_p.R146S	p.R146S	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		4	442	-	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		146					A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.438G>C	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614767	0.46631	.	.	ENSG00000197110	ENST00000413851	T	0.32988	1.43	3.95	1.76	0.24704	.	0.598323	0.15930	N	0.237731	T	0.36991	0.0987	M	0.83483	2.645	0.09310	N	1	P	0.47034	0.889	B	0.43990	0.438	T	0.27536	-1.0071	10	0.62326	D	0.03	-10.0969	6.6684	0.23054	0.0:0.766:0.0:0.234	.	146	Q8IZI9	IL28B_HUMAN	S	146	ENSP00000409000:R146S	ENSP00000409000:R146S	R	-	3	2	IL28B	44426358	0.000000	0.05858	0.289000	0.24876	0.082000	0.17680	0.545000	0.23268	0.284000	0.22305	0.205000	0.17691	AGG		0.687	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1		NM_172139		6	8	0	0	0	0.013537	0	6	8		
IFNL3	282617	broad.mit.edu	37	19	39734756	39734756	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39734756C>T	ENST00000413851.2	-	3	338	c.300G>A	c.(298-300)ctG>ctA	p.L100L		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	100					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CCTTCAGCGTCAGGGCCAGCT	0.647																																						uc010xut.1		NaN																	0					0						c.(298-300)CTG>CTA		interleukin 28B							43.0	47.0	46.0					19																	39734756		2203	4300	6503	SO:0001819	synonymous_variant	282617				response to virus	extracellular space	cytokine activity	g.chr19:39734756C>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.300G>A	19.37:g.39734756C>T						IL28B_uc010xuu.1_Silent_p.L100L	p.L100L	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		3	304	-	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		100					A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Silent	SNP	ENST00000413851.2	37	c.300G>A	CCDS12530.1																																																																																				0.647	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1		NM_172139		18	21	0	0	0	0.007413	0	18	21		
SAMD4B	55095	broad.mit.edu	37	19	39868130	39868130	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39868130G>A	ENST00000314471.6	+	10	2145	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Silent_p.V370V	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	370	SAM.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCAGGATGTGCTGGAAGGCG	0.582																																						uc002olb.2		NaN																	0					0						c.(1108-1110)GTG>GTA		sterile alpha motif domain containing 4B							79.0	67.0	71.0					19																	39868130		2203	4300	6503	SO:0001819	synonymous_variant	55095						protein binding	g.chr19:39868130G>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1110G>A	19.37:g.39868130G>A						SAMD4B_uc002ola.2_Silent_p.V370V	p.V370V	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		10	2145	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		370			SAM.		A5Z0M6|Q6P194	Silent	SNP	ENST00000314471.6	37	c.1110G>A	CCDS33020.1																																																																																				0.582	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1		NM_018028		17	58	0	0	0	0.006122	0	17	58		
RPS16	6217	broad.mit.edu	37	19	39926340	39926340	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39926340C>T	ENST00000251453.3	-	2	109	c.57G>A	c.(55-57)gcG>gcA	p.A19A	RPS16_ENST00000339471.4_Silent_p.A19A|RPS16_ENST00000599539.1_Silent_p.A19A|RPS16_ENST00000601655.1_Silent_p.A19A	NM_001020.4	NP_001011.1	P62249	RS16_HUMAN	ribosomal protein S16	19					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCACAGCTGTCGCTGTCTTCT	0.602																																						uc002olk.2		NaN																	0				skin(1)	1						c.(55-57)GCG>GCA		ribosomal protein S16							45.0	43.0	44.0					19																	39926340		2203	4300	6503	SO:0001819	synonymous_variant	6217				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:39926340C>T	M60854	CCDS12535.1	19q13.1	2011-04-05				ENSG00000105193		"""S ribosomal proteins"""	10396	protein-coding gene	gene with protein product	"""40S ribosomal protein S16"""	603675				2016298, 9582194	Standard	XM_005259137		Approved	S16	uc002olk.3	P62249		ENST00000251453.3:c.57G>A	19.37:g.39926340C>T						RPS16_uc002oll.2_Silent_p.A19A|RPS16_uc002olm.2_Silent_p.A19A	p.A19A	NM_001020	NP_001011	P62249	RS16_HUMAN	Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	140	-	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		19					B2RDD5|P17008	Silent	SNP	ENST00000251453.3	37	c.57G>A	CCDS12535.1																																																																																				0.602	RPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464511.1		NM_001020		4	31	0	0	0	0.000602	0	4	31		
SUPT5H	6829	broad.mit.edu	37	19	39965239	39965239	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39965239G>T	ENST00000599117.1	+	29	3272	c.2905G>T	c.(2905-2907)Ggc>Tgc	p.G969C	SUPT5H_ENST00000359191.6_Missense_Mutation_p.G965C|SUPT5H_ENST00000598725.1_Missense_Mutation_p.G969C|SUPT5H_ENST00000432763.2_Missense_Mutation_p.G969C|SUPT5H_ENST00000402194.2_Missense_Mutation_p.G965C			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	969					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACACACGCCAGGCTCAGGCAT	0.617											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002olo.3		NaN																	0				ovary(3)|pancreas(1)	4						c.(2905-2907)GGC>TGC		suppressor of Ty 5 homolog isoform a							76.0	65.0	69.0					19																	39965239		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39965239G>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2905G>T	19.37:g.39965239G>T	ENSP00000470252:p.Gly969Cys		OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SUPT5H_uc002olp.3_Missense_Mutation_p.G969C|SUPT5H_uc002olq.3_Missense_Mutation_p.G965C|SUPT5H_uc002oln.3_Missense_Mutation_p.G969C|SUPT5H_uc002olr.3_Missense_Mutation_p.G969C|SUPT5H_uc002ols.1_Missense_Mutation_p.G592C	p.G969C	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		28	3084	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		969					O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.2905G>T	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303502	0.81136	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.979;0.991;0.979	T	0.82633	-0.0361	8	.	.	.	-22.9354	16.0726	0.80946	0.0:0.0:1.0:0.0	.	761;965;969	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	C	969;965;947;969	.	.	G	+	1	0	SUPT5H	44657079	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.256000	0.95535	2.327000	0.79052	0.462000	0.41574	GGC		0.617	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1		NM_003169		19	31	1	0	3.51602e-12	0.008871	3.67699e-12	19	31		
LGALS13	29124	broad.mit.edu	37	19	40097960	40097960	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40097960C>T	ENST00000221797.4	+	4	446	c.401C>T	c.(400-402)tCa>tTa	p.S134L		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	134	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TCCCTGACCTCAGTGTGTGTC	0.463																																						uc002omb.2		NaN																	0				ovary(1)	1						c.(400-402)TCA>TTA		galectin-13							171.0	128.0	142.0					19																	40097960		2203	4300	6503	SO:0001583	missense	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40097960C>T	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.401C>T	19.37:g.40097960C>T	ENSP00000221797:p.Ser134Leu						p.S134L	NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		4	441	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		134			Galectin.		C5HZ15	Missense_Mutation	SNP	ENST00000221797.4	37	c.401C>T	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	14.95	2.689436	0.48097	.	.	ENSG00000105198	ENST00000221797	T	0.09163	3.01	0.753	0.753	0.18404	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.33614	0.0869	M	0.91090	3.175	0.09310	N	0.999993	D	0.60575	0.988	D	0.62955	0.909	T	0.06698	-1.0812	8	0.54805	T	0.06	.	.	.	.	.	134	Q9UHV8	PP13_HUMAN	L	134	ENSP00000221797:S134L	ENSP00000221797:S134L	S	+	2	0	LGALS13	44789800	0.000000	0.05858	0.234000	0.24042	0.441000	0.31987	0.177000	0.16801	0.664000	0.31047	0.313000	0.20887	TCA		0.463	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1		NM_013268		42	53	0	0	0	0.009718	0	42	53		
FCGBP	8857	broad.mit.edu	37	19	40433739	40433739	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40433739G>A	ENST00000221347.6	-	2	537	c.530C>T	c.(529-531)tCa>tTa	p.S177L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	177	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAATGTCACTGACCCCTTCAG	0.577																																						uc002omp.3		NaN																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(529-531)TCA>TTA		Fc fragment of IgG binding protein precursor							78.0	74.0	75.0					19																	40433739		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433739G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.530C>T	19.37:g.40433739G>A	ENSP00000221347:p.Ser177Leu						p.S177L	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	538	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		177			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.530C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	6.480	0.456686	0.12283	.	.	ENSG00000090920	ENST00000221347	T	0.20598	2.06	4.47	1.18	0.20946	.	2.404060	0.02335	N	0.074280	T	0.14614	0.0353	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.29243	-1.0018	10	0.66056	D	0.02	.	6.2675	0.20936	0.1733:0.4053:0.4215:0.0	.	177	Q9Y6R7	FCGBP_HUMAN	L	177	ENSP00000221347:S177L	ENSP00000221347:S177L	S	-	2	0	FCGBP	45125579	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.435000	0.06931	0.393000	0.25203	-0.165000	0.13383	TCA		0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1		NM_003890		52	60	0	0	0	0.01441	0	52	60		
ZNF780B	163131	broad.mit.edu	37	19	40542198	40542198	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40542198C>T	ENST00000434248.1	-	5	633	c.568G>A	c.(568-570)Gag>Aag	p.E190K	ZNF780B_ENST00000221355.6_Missense_Mutation_p.E42K	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAGGGTTTCTCTCCAGTATGA	0.338																																						uc002omu.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(568-570)GAG>AAG		zinc finger protein 780B							86.0	95.0	92.0					19																	40542198		2198	4298	6496	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40542198C>T	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.568G>A	19.37:g.40542198C>T	ENSP00000391641:p.Glu190Lys					ZNF780B_uc002omv.2_Missense_Mutation_p.E42K	p.E190K	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN			5	633	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		190					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.568G>A	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405065	0.62288	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.24350	1.86;1.86	2.21	2.21	0.28008	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40670	0.1126	L	0.49126	1.545	0.33257	D	0.55923	D	0.76494	0.999	D	0.85130	0.997	T	0.50233	-0.8852	9	0.42905	T	0.14	.	9.6987	0.40173	0.0:1.0:0.0:0.0	.	190	Q9Y6R6	Z780B_HUMAN	K	190;42	ENSP00000391641:E190K;ENSP00000221355:E42K	ENSP00000221355:E42K	E	-	1	0	ZNF780B	45234038	0.477000	0.25909	1.000000	0.80357	0.779000	0.44077	1.036000	0.30228	1.046000	0.40249	0.313000	0.20887	GAG		0.338	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1		NM_001005851		13	102	0	0	0	0.001855	0	13	102		
ZNF780B	163131	broad.mit.edu	37	19	40542207	40542207	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40542207G>A	ENST00000434248.1	-	5	624	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.H39Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCTCCAGTATGAATACTCTGA	0.348																																						uc002omu.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(559-561)CAT>TAT		zinc finger protein 780B							95.0	104.0	101.0					19																	40542207		2199	4298	6497	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40542207G>A	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.559C>T	19.37:g.40542207G>A	ENSP00000391641:p.His187Tyr					ZNF780B_uc002omv.2_Missense_Mutation_p.H39Y	p.H187Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN			5	624	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		187			C2H2-type 1.		B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.559C>T	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096994	0.56075	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.67523	-0.27;-0.27	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83248	0.5213	M	0.92507	3.315	0.33328	D	0.568206	D	0.76494	0.999	D	0.81914	0.995	D	0.86563	0.1842	9	0.62326	D	0.03	.	9.6987	0.40173	0.0:0.0:1.0:0.0	.	187	Q9Y6R6	Z780B_HUMAN	Y	187;39	ENSP00000391641:H187Y;ENSP00000221355:H39Y	ENSP00000221355:H39Y	H	-	1	0	ZNF780B	45234047	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.945000	0.70226	1.046000	0.40249	0.313000	0.20887	CAT		0.348	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1		NM_001005851		14	102	0	0	0	0.00245	0	14	102		
MAP3K10	4294	broad.mit.edu	37	19	40715101	40715101	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40715101C>T	ENST00000253055.3	+	6	1815	c.1527C>T	c.(1525-1527)atC>atT	p.I509I		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	509					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCCCAGCATCATCCCCCGGC	0.547																																						uc002ona.2		NaN																	0				ovary(2)|lung(2)|skin(1)|pancreas(1)	6						c.(1525-1527)ATC>ATT		mitogen-activated protein kinase kinase kinase							60.0	68.0	65.0					19																	40715101		2203	4300	6503	SO:0001819	synonymous_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40715101C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1527C>T	19.37:g.40715101C>T						MAP3K10_uc002onb.2_5'UTR	p.I509I	NM_002446	NP_002437	Q02779	M3K10_HUMAN			6	1815	+			509					Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	c.1527C>T	CCDS12549.1																																																																																				0.547	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1		NM_002446		35	52	0	0	0	0.005524	0	35	52		
SERTAD3	29946	broad.mit.edu	37	19	40947819	40947819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40947819G>A	ENST00000322354.3	-	2	665	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	SERTAD3_ENST00000392028.4_Missense_Mutation_p.L57F|SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	57	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTATGGATGAGGACATGCCTG	0.662																																						uc002onu.3		NaN																	0					0						c.(169-171)CTC>TTC		RPA-binding trans-activator							33.0	27.0	29.0					19																	40947819		2203	4300	6503	SO:0001583	missense	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947819G>A	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.169C>T	19.37:g.40947819G>A	ENSP00000325414:p.Leu57Phe					SERTAD3_uc002onv.3_Missense_Mutation_p.L57F	p.L57F	NM_013368	NP_037500	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	447	-			57			SERTA.		B3KQB3|Q96CQ2	Missense_Mutation	SNP	ENST00000322354.3	37	c.169C>T	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949143	0.53186	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	4.64	4.64	0.57946	.	0.000000	0.52532	D	0.000063	T	0.52208	0.1720	N	0.08118	0	0.48632	D	0.999688	D	0.89917	1.0	D	0.91635	0.999	T	0.61744	-0.7000	9	0.87932	D	0	-6.6542	12.9037	0.58139	0.0:0.0:1.0:0.0	.	57	Q9UJW9	SRTD3_HUMAN	F	57	.	ENSP00000325414:L57F	L	-	1	0	SERTAD3	45639659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.740000	0.62087	2.419000	0.82065	0.655000	0.94253	CTC		0.662	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1		NM_013368		5	11	0	0	0	0.001168	0	5	11		
SPTBN4	57731	broad.mit.edu	37	19	41008759	41008759	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41008759G>A	ENST00000352632.3	+	11	1367	c.1281G>A	c.(1279-1281)ctG>ctA	p.L427L	SPTBN4_ENST00000338932.3_Silent_p.L427L|SPTBN4_ENST00000344104.3_Silent_p.L427L|SPTBN4_ENST00000598249.1_Silent_p.L427L|SPTBN4_ENST00000595535.1_Silent_p.L427L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	427					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGAGAAGCTGGAACTACTGG	0.597																																						uc002ony.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1279-1281)CTG>CTA		spectrin, beta, non-erythrocytic 4 isoform							92.0	96.0	95.0					19																	41008759		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41008759G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1281G>A	19.37:g.41008759G>A						SPTBN4_uc002onx.2_Silent_p.L427L|SPTBN4_uc002onz.2_Silent_p.L427L	p.L427L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		11	1367	+			427					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.1281G>A	CCDS12559.1																																																																																				0.597	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2				50	70	0	0	0	0.01441	0	50	70		
SHKBP1	92799	broad.mit.edu	37	19	41088265	41088265	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41088265C>T	ENST00000291842.5	+	10	902	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	SHKBP1_ENST00000600733.1_Intron	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	285					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGGGTCTTTCATCTGGGGGT	0.597																																						uc002oob.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(853-855)CAT>TAT		SH3KBP1 binding protein 1							75.0	77.0	77.0					19																	41088265		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41088265C>T	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.853C>T	19.37:g.41088265C>T	ENSP00000291842:p.His285Tyr					SHKBP1_uc002ooc.2_Intron|SHKBP1_uc002ood.2_Missense_Mutation_p.H285Y|SHKBP1_uc010xvl.1_Missense_Mutation_p.H208Y|SHKBP1_uc002ooe.2_Missense_Mutation_p.H122Y|SHKBP1_uc002oof.2_Missense_Mutation_p.H122Y|SHKBP1_uc010xvm.1_Missense_Mutation_p.H122Y|SHKBP1_uc010xvn.1_Missense_Mutation_p.H163Y	p.H285Y	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		10	902	+			285			WD 2.		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.853C>T	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209512	0.39003	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.06294	3.32	4.47	3.44	0.39384	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.221483	0.44483	N	0.000449	T	0.03739	0.0106	N	0.08118	0	0.33287	D	0.563068	B;B;B;B;B	0.33288	0.406;0.028;0.255;0.0;0.0	B;B;B;B;B	0.36464	0.225;0.049;0.145;0.001;0.001	T	0.23940	-1.0174	10	0.59425	D	0.04	-21.4368	6.6708	0.23068	0.1767:0.7291:0.0:0.0942	.	163;122;208;122;285	B4DLI0;B4DUW2;B4DUV2;B3KVX8;Q8TBC3	.;.;.;.;SHKB1_HUMAN	Y	285;122	ENSP00000291842:H285Y	ENSP00000291842:H285Y	H	+	1	0	SHKBP1	45780105	0.985000	0.35326	1.000000	0.80357	0.949000	0.60115	1.169000	0.31871	1.117000	0.41842	0.561000	0.74099	CAT		0.597	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2		NM_138392		23	92	0	0	0	0.014323	0	23	92		
LTBP4	8425	broad.mit.edu	37	19	41117097	41117097	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41117097G>A	ENST00000308370.7	+	16	2051	c.2051G>A	c.(2050-2052)cGa>cAa	p.R684Q	LTBP4_ENST00000396819.3_Missense_Mutation_p.R617Q|LTBP4_ENST00000204005.9_Missense_Mutation_p.R647Q|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.R137Q|LTBP4_ENST00000243562.9_5'Flank	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	684	Cys-rich.|EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGTGGCCGAGGGGCCTGC	0.647																																						uc002ooh.1		NaN																	0				central_nervous_system(1)	1						c.(2050-2052)CGA>CAA		latent transforming growth factor beta binding							42.0	50.0	48.0					19																	41117097		1980	4133	6113	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41117097G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2051G>A	19.37:g.41117097G>A	ENSP00000311905:p.Arg684Gln					LTBP4_uc002oog.1_Missense_Mutation_p.R647Q|LTBP4_uc002ooi.1_Missense_Mutation_p.R617Q|LTBP4_uc002ooj.1_Intron|LTBP4_uc010xvo.1_Intron|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank	p.R684Q	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	2051	+			684			Cys-rich.|EGF-like 6; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.2051G>A		.	.	.	.	.	.	.	.	.	.	G	17.67	3.446697	0.63178	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	4.82	3.77	0.43336	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.221517	0.23142	N	0.051458	D	0.85919	0.5809	N	0.03050	-0.425	0.80722	D	1	D;D;D	0.71674	0.998;0.988;0.994	P;B;P	0.58391	0.838;0.403;0.728	T	0.81707	-0.0810	10	0.13853	T	0.58	.	11.6504	0.51286	0.0:0.0:0.8216:0.1784	.	617;684;647	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	Q	647;137;684;617	ENSP00000204005:R647Q;ENSP00000441054:R137Q;ENSP00000311905:R684Q;ENSP00000380031:R617Q	ENSP00000204005:R647Q	R	+	2	0	LTBP4	45808937	0.001000	0.12720	0.765000	0.31456	0.541000	0.35023	0.741000	0.26202	1.006000	0.39211	0.561000	0.74099	CGA		0.647	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_003573		6	35	0	0	0	0.001168	0	6	35		
LTBP4	8425	broad.mit.edu	37	19	41118028	41118028	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41118028G>A	ENST00000308370.7	+	18	2430	c.2430G>A	c.(2428-2430)gtG>gtA	p.V810V	LTBP4_ENST00000396819.3_Silent_p.V743V|LTBP4_ENST00000204005.9_Silent_p.V773V|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.V263V|LTBP4_ENST00000243562.9_5'Flank	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	810	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGAGTGTGTGAACTCGCCCG	0.637																																						uc002ooh.1		NaN																	0				central_nervous_system(1)	1						c.(2428-2430)GTG>GTA		latent transforming growth factor beta binding							53.0	62.0	59.0					19																	41118028		2098	4220	6318	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41118028G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2430G>A	19.37:g.41118028G>A						LTBP4_uc002oog.1_Silent_p.V773V|LTBP4_uc002ooi.1_Silent_p.V743V|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc010xvo.1_Silent_p.V98V|LTBP4_uc010ehb.1_Silent_p.V30V|LTBP4_uc002ook.1_Silent_p.V30V|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank	p.V810V	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		18	2430	+			810			Cys-rich.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.2430G>A																																																																																					0.637	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_003573		4	15	0	0	0	0.001168	0	4	15		
CYP2A6	1548	broad.mit.edu	37	19	41349839	41349839	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41349839G>A	ENST00000301141.5	-	9	1367	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	449					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AGAAGAGAAAGAGCTCCATTC	0.587																																						uc002opl.3		NaN																	0				ovary(2)	2						c.(1345-1347)CTC>CTT		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						56.0	44.0	48.0					19																	41349839		2202	4277	6479	SO:0001819	synonymous_variant	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41349839G>A	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1347C>T	19.37:g.41349839G>A							p.L449L	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		9	1368	-			449					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Silent	SNP	ENST00000301141.5	37	c.1347C>T	CCDS12568.1																																																																																				0.587	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1		NM_000762		9	55	0	0	0	0.003163	0	9	55		
GRIK5	2901	broad.mit.edu	37	19	42557979	42557979	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42557979C>T	ENST00000262895.3	-	9	1158	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	GRIK5_ENST00000301218.4_Missense_Mutation_p.E387K|GRIK5_ENST00000593562.1_Missense_Mutation_p.E387K	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	387					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CTGCTCACCTCACGGTGGCCC	0.647																																						uc002osj.1		NaN																	0					0						c.(1159-1161)GAG>AAG		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						59.0	52.0	55.0					19																	42557979		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42557979C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1159G>A	19.37:g.42557979C>T	ENSP00000262895:p.Glu387Lys					GRIK5_uc010eib.1_Missense_Mutation_p.E306K	p.E387K	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			9	1194	-		Prostate(69;0.059)	387			Extracellular (Potential).		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1159G>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348817	0.24426	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.23147	1.92;1.92	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.11750	0.0286	N	0.03281	-0.365	0.46416	D	0.999031	B	0.16396	0.017	B	0.12837	0.008	T	0.11767	-1.0574	10	0.02654	T	1	.	18.0289	0.89277	0.0:1.0:0.0:0.0	.	387	Q16478	GRIK5_HUMAN	K	387	ENSP00000262895:E387K;ENSP00000301218:E387K	ENSP00000262895:E387K	E	-	1	0	GRIK5	47249819	0.929000	0.31497	0.998000	0.56505	0.973000	0.67179	1.927000	0.40094	2.546000	0.85860	0.655000	0.94253	GAG		0.647	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1				4	28	0	0	0	0.001168	0	4	28		
ZNF574	64763	broad.mit.edu	37	19	42584118	42584118	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42584118G>C	ENST00000600245.1	+	2	2015	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.E454Q|ZNF574_ENST00000222339.7_Missense_Mutation_p.E544Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCCTGTGTCTGAGGAGACCTC	0.637																																						uc002osm.3		NaN																	0					0						c.(1360-1362)GAG>CAG		zinc finger protein 574							33.0	37.0	36.0					19																	42584118		2202	4298	6500	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584118G>C	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1360G>C	19.37:g.42584118G>C	ENSP00000469029:p.Glu454Gln					ZNF574_uc002osk.3_Missense_Mutation_p.E544Q	p.E454Q	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	1529	+		Prostate(69;0.059)	454					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1360G>C	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	g	10.87	1.473797	0.26423	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.06528	3.29;3.3	4.66	3.57	0.40892	.	0.192881	0.32785	N	0.005657	T	0.03305	0.0096	N	0.13098	0.295	0.21184	N	0.999762	B;B	0.14805	0.001;0.011	B;B	0.12837	0.001;0.008	T	0.46148	-0.9212	10	0.12766	T	0.61	-16.2989	7.4634	0.27308	0.0:0.295:0.5488:0.1561	.	454;543	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	Q	544;454;61	ENSP00000222339:E544Q;ENSP00000351939:E454Q	ENSP00000222339:E544Q	E	+	1	0	ZNF574	47275958	0.955000	0.32602	0.949000	0.38748	0.965000	0.64279	1.773000	0.38563	2.442000	0.82660	0.550000	0.68814	GAG		0.637	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1		NM_022752		38	40	0	0	0	0.004289	0	38	40		
TMEM145	284339	broad.mit.edu	37	19	42827892	42827892	+	Missense_Mutation	SNP	C	C	G	rs149140216		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42827892C>G	ENST00000301204.3	+	14	1393	c.1352C>G	c.(1351-1353)tCg>tGg	p.S451W	MEGF8_ENST00000251268.6_5'Flank|MEGF8_ENST00000334370.4_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	451					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ATCAGCGACTCGGTGCCCAAC	0.682																																						uc002otk.1		NaN																	0					0						c.(1351-1353)TCG>TGG		transmembrane protein 145		C	TRP/SER	1,4405	2.1+/-5.4	0,1,2202	108.0	90.0	96.0		1352	4.7	1.0	19	dbSNP_134	96	0,8600		0,0,4300	no	missense	TMEM145	NM_173633.2	177	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	451/494	42827892	1,13005	2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42827892C>G	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1352C>G	19.37:g.42827892C>G	ENSP00000301204:p.Ser451Trp					MEGF8_uc002otl.3_5'Flank	p.S451W	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			14	1404	+		Prostate(69;0.00682)	451						Missense_Mutation	SNP	ENST00000301204.3	37	c.1352C>G	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286912	0.80803	2.27E-4	0.0	ENSG00000167619	ENST00000301204	T	0.53423	0.62	4.68	4.68	0.58851	.	0.158418	0.42420	D	0.000701	T	0.61714	0.2369	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.65001	-0.6274	10	0.72032	D	0.01	-16.854	15.4549	0.75305	0.0:1.0:0.0:0.0	.	451	Q8NBT3	TM145_HUMAN	W	451	ENSP00000301204:S451W	ENSP00000301204:S451W	S	+	2	0	TMEM145	47519732	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.517000	0.73759	2.305000	0.77605	0.650000	0.86243	TCG		0.682	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1		NM_173633		11	46	0	0	0	0.010729	0	11	46		
MEGF8	1954	broad.mit.edu	37	19	42854308	42854308	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42854308C>T	ENST00000251268.6	+	15	2508	c.2508C>T	c.(2506-2508)tcC>tcT	p.S836S	MEGF8_ENST00000334370.4_Silent_p.S769S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	836					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGGAGATCTCCTTCTTCTTCC	0.607																																						uc002otl.3		NaN																	0				ovary(1)	1						c.(2305-2307)TCC>TCT		multiple EGF-like-domains 8							88.0	73.0	78.0					19																	42854308		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42854308C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2508C>T	19.37:g.42854308C>T						MEGF8_uc002otm.3_Silent_p.S377S	p.S769S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			14	2942	+		Prostate(69;0.00682)	836			Extracellular (Potential).		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.2307C>T																																																																																					0.607	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		NM_001410		15	86	0	0	0	0.003163	0	15	86		
LIPE	3991	broad.mit.edu	37	19	42930623	42930623	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42930623C>G	ENST00000244289.4	-	1	955	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	LIPE-AS1_ENST00000457234.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	227					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GTGACCCACTCAGAAAGTGCC	0.493																																						uc002otr.2		NaN																	0				ovary(1)|breast(1)	2						c.(679-681)GAG>CAG		hormone-sensitive lipase							129.0	130.0	130.0					19																	42930623		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42930623C>G	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.679G>C	19.37:g.42930623C>G	ENSP00000244289:p.Glu227Gln					uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	p.E227Q	NM_005357	NP_005348	Q05469	LIPS_HUMAN			1	956	-		Prostate(69;0.00682)	227					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.679G>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189838	0.38707	.	.	ENSG00000079435	ENST00000244289	T	0.04551	3.6	3.58	3.58	0.41010	.	0.565266	0.14754	N	0.300397	T	0.08935	0.0221	M	0.69823	2.125	0.09310	N	1	P	0.45044	0.849	B	0.42163	0.378	T	0.12016	-1.0564	10	0.66056	D	0.02	-9.257	10.9944	0.47567	0.0:1.0:0.0:0.0	.	227	Q05469	LIPS_HUMAN	Q	227	ENSP00000244289:E227Q	ENSP00000244289:E227Q	E	-	1	0	LIPE	47622463	0.292000	0.24362	0.116000	0.21606	0.040000	0.13550	1.862000	0.39448	2.259000	0.74868	0.655000	0.94253	GAG		0.493	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1		NM_005357		46	131	0	0	0	0.01441	0	46	131		
PSG7	5676	broad.mit.edu	37	19	43428961	43428961	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:43428961C>T	ENST00000406070.2	-	0	1355				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				tagtagaattcagggtaatgt	0.408																																						uc002ovl.3		NaN																	0					0						c.(1258-1260)TGA>TAA		pregnancy specific beta-1-glycoprotein 7							61.0	76.0	71.0					19																	43428961		2029	3886	5915			5676				female pregnancy	extracellular region		g.chr19:43428961C>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43428961C>T						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Silent_p.*298*	p.*420*	NM_002783	NP_002774	Q13046	PSG7_HUMAN			7	1361	-		Prostate(69;0.00682)	420					Q15232	Silent	SNP	ENST00000406070.2	37	c.1259G>A																																																																																					0.408	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2		NM_001206650		20	83	0	0	0	0.008871	0	20	83		
CD177	57126	broad.mit.edu	37	19	43866321	43866321	+	RNA	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:43866321G>T	ENST00000607109.1	-	0	300				CD177_ENST00000607517.1_RNA|CD177_ENST00000378009.4_RNA																							AGACAAATCGGGATCTTCTCT	0.592																																						uc002owi.2		NaN																	0				central_nervous_system(1)	1						c.(1162-1164)GGG>GTG		CD177 molecule precursor							115.0	109.0	111.0					19																	43866321		2060	4203	6263			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43866321G>T																													19.37:g.43866321G>T						CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	p.G388V	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN			10	1205	+		Prostate(69;0.00682)	388						Missense_Mutation	SNP	ENST00000607109.1	37	c.1163G>T																																																																																					0.592	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1				8	79	1	0	1.76689e-08	0.006214	1.82753e-08	8	79		
LYPD5	284348	broad.mit.edu	37	19	44302740	44302740	+	Silent	SNP	C	C	T	rs371523113		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44302740C>T	ENST00000377950.3	-	4	464	c.384G>A	c.(382-384)ccG>ccA	p.P128P	AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000414615.2_Silent_p.P85P|LYPD5_ENST00000594013.1_Silent_p.P85P	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	128						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				CGCTGAGCGTCGGCGGGTCGG	0.677																																						uc002oxm.3		NaN																	0					0						c.(382-384)CCG>CCA		LY6/PLAUR domain containing 5 isoform A		C	,	0,4406		0,0,2203	53.0	49.0	51.0		384,255	-5.5	0.0	19		51	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	LYPD5	NM_001031749.2,NM_182573.2	,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,	128/252,85/209	44302740	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	284348					anchored to membrane|plasma membrane		g.chr19:44302740C>T	AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.384G>A	19.37:g.44302740C>T						LYPD5_uc002oxn.3_Silent_p.P85P	p.P128P	NM_001031749	NP_001026919	Q6UWN5	LYPD5_HUMAN			4	465	-		Prostate(69;0.0352)	128					Q6PEX9|Q96DR2	Silent	SNP	ENST00000377950.3	37	c.384G>A	CCDS46096.1																																																																																				0.677	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463611.1		NM_182573		11	50	0	0	0	0.008291	0	11	50		
ZNF283	284349	broad.mit.edu	37	19	44351438	44351438	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44351438C>T	ENST00000324461.7	+	7	982	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H90Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAGAGAACTCATACAGCTGA	0.368																																						uc002oxr.3		NaN																	0					0						c.(685-687)CAT>TAT		zinc finger protein 283							61.0	67.0	65.0					19																	44351438		2103	4259	6362	SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44351438C>T	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.685C>T	19.37:g.44351438C>T	ENSP00000327314:p.His229Tyr					ZNF283_uc002oxp.3_Missense_Mutation_p.H90Y	p.H229Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN			7	953	+		Prostate(69;0.0352)	229					B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	c.685C>T	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878023	0.51801	.	.	ENSG00000167637	ENST00000324461	T	0.67523	-0.27	3.58	2.5	0.30297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80396	0.4615	M	0.92268	3.29	0.80722	D	1	D	0.61697	0.99	P	0.57057	0.812	T	0.82206	-0.0572	9	0.66056	D	0.02	.	9.3577	0.38177	0.0:0.8889:0.0:0.1111	.	229	Q8N7M2	ZN283_HUMAN	Y	229	ENSP00000327314:H229Y	ENSP00000327314:H229Y	H	+	1	0	ZNF283	49043278	0.129000	0.22400	0.854000	0.33618	0.826000	0.46750	1.563000	0.36364	0.813000	0.34350	0.563000	0.77884	CAT		0.368	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1		NM_181845		37	64	0	0	0	0.005524	0	37	64		
ZNF230	7773	broad.mit.edu	37	19	44514653	44514653	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44514653C>G	ENST00000429154.2	+	5	690	c.462C>G	c.(460-462)atC>atG	p.I154M		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	154	KRNB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I154M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				ATGTTGCCATCTTTGATCCTC	0.448																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(460-462)ATC>ATG		zinc finger protein 230							147.0	141.0	143.0					19																	44514653		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514653C>G	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.462C>G	19.37:g.44514653C>G	ENSP00000409318:p.Ile154Met						p.I154M	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	713	+		Prostate(69;0.0352)	154			KRNB.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.462C>G	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510019	0.27036	.	.	ENSG00000159882	ENST00000429154	T	0.15256	2.44	2.45	2.45	0.29901	.	.	.	.	.	T	0.13927	0.0337	L	0.41824	1.3	0.20196	N	0.999925	P	0.40332	0.713	B	0.39531	0.302	T	0.12630	-1.0540	9	0.32370	T	0.25	.	7.8907	0.29675	0.2469:0.7531:0.0:0.0	.	154	Q9UIE0	ZN230_HUMAN	M	154	ENSP00000409318:I154M	ENSP00000409318:I154M	I	+	3	3	ZNF230	49206493	0.000000	0.05858	0.001000	0.08648	0.208000	0.24298	-0.439000	0.06897	1.342000	0.45619	0.205000	0.17691	ATC		0.448	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1				33	146	0	0	0	0.010818	0	33	146		
ZNF284	342909	broad.mit.edu	37	19	44585289	44585289	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44585289C>T	ENST00000421176.3	+	3	353	c.137C>T	c.(136-138)tCa>tTa	p.S46L	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AACCTGCTATCAGTGGGTGAG	0.517																																						uc002oyg.1		NaN																	0					0						c.(136-138)TCA>TTA		zinc finger protein 284							153.0	150.0	151.0					19																	44585289		2203	4300	6503	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44585289C>T	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.137C>T	19.37:g.44585289C>T	ENSP00000411032:p.Ser46Leu					ZNF284_uc010ejd.2_RNA	p.S46L	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN			3	353	+		Prostate(69;0.0435)	46			KRAB.		Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.137C>T	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051746	0.36181	.	.	ENSG00000186026	ENST00000421176	T	0.03004	4.08	1.64	1.64	0.23874	Krueppel-associated box (4);	.	.	.	.	T	0.06690	0.0171	M	0.66939	2.045	0.27285	N	0.957999	B	0.22276	0.067	B	0.33196	0.159	T	0.20240	-1.0281	9	0.66056	D	0.02	.	6.7162	0.23304	0.0:1.0:0.0:0.0	.	46	Q2VY69	ZN284_HUMAN	L	46	ENSP00000411032:S46L	ENSP00000411032:S46L	S	+	2	0	ZNF284	49277129	0.048000	0.20356	0.654000	0.29608	0.273000	0.26683	3.691000	0.54720	1.202000	0.43218	0.462000	0.41574	TCA		0.517	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1		NM_001037813		48	83	0	0	0	0.013114	0	48	83		
ZNF226	7769	broad.mit.edu	37	19	44676255	44676255	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44676255C>T	ENST00000590089.1	+	5	397	c.30C>T	c.(28-30)ttC>ttT	p.F10F	ZNF226_ENST00000300823.6_Silent_p.F10F|ZNF226_ENST00000454662.2_Silent_p.F10F|ZNF226_ENST00000589160.1_Silent_p.F10F|ZNF226_ENST00000413984.2_Silent_p.F10F|ZNF226_ENST00000588742.1_Silent_p.F10F|ZNF226_ENST00000588795.1_Silent_p.F10F|ZNF226_ENST00000588883.1_Silent_p.F10F|ZNF226_ENST00000337433.5_Silent_p.F10F			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	10	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				CAGTGACCTTCAAGGACGTGG	0.507																																					Pancreas(115;581 1665 13228 19278 50070)	uc002oyp.2		NaN																	0					0						c.(28-30)TTC>TTT		zinc finger protein 226 isoform a							168.0	166.0	167.0					19																	44676255		2203	4300	6503	SO:0001819	synonymous_variant	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44676255C>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.30C>T	19.37:g.44676255C>T						ZNF226_uc002oyn.2_Silent_p.F10F|ZNF226_uc002oyo.2_Silent_p.F10F|ZNF226_uc002oyq.2_5'UTR|ZNF226_uc002oyr.2_5'UTR|ZNF226_uc010ejg.2_Silent_p.F10F|ZNF226_uc002oys.2_Silent_p.F10F|ZNF226_uc002oyt.2_Silent_p.F10F	p.F10F	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN			4	174	+		Prostate(69;0.0352)|all_neural(266;0.202)	10			KRAB.		Q8WWE6|Q96TE6|Q9NS44	Silent	SNP	ENST00000590089.1	37	c.30C>T	CCDS46102.1																																																																																				0.507	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1				52	89	0	0	0	0.01441	0	52	89		
PVRL2	5819	broad.mit.edu	37	19	45391385	45391385	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:45391385G>C	ENST00000252483.5	+	9	1366	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	456					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCGATACCATGAGCTGCCCAC	0.572																																						uc002ozw.1		NaN																	0					0						c.(1366-1368)GAG>CAG		poliovirus receptor related 2 isoform delta							53.0	55.0	54.0					19																	45391385		2025	4174	6199	SO:0001583	missense	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45391385G>C	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1366G>C	19.37:g.45391385G>C	ENSP00000252483:p.Glu456Gln						p.E456Q	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	9	1756	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	456			Cytoplasmic (Potential).		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.1366G>C	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336464	0.60963	.	.	ENSG00000130202	ENST00000252483	D	0.84873	-1.91	4.8	4.8	0.61643	.	0.000000	0.52532	D	0.000075	D	0.86306	0.5901	N	0.24115	0.695	0.34793	D	0.735932	D	0.71674	0.998	D	0.78314	0.991	D	0.89436	0.3720	10	0.54805	T	0.06	.	13.5417	0.61679	0.0:0.0:1.0:0.0	.	456	Q92692	PVRL2_HUMAN	Q	456	ENSP00000252483:E456Q	ENSP00000252483:E456Q	E	+	1	0	PVRL2	50083225	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	4.858000	0.62947	2.659000	0.90383	0.561000	0.74099	GAG		0.572	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1		NM_002856		18	77	0	0	0	0.007413	0	18	77		
ERCC2	2068	broad.mit.edu	37	19	45873455	45873455	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:45873455T>C	ENST00000391945.4	-	2	118	c.41A>G	c.(40-42)tAc>tGc	p.Y14C	ERCC2_ENST00000391944.3_Missense_Mutation_p.Y14C|ERCC2_ENST00000485403.2_5'UTR|ERCC2_ENST00000221481.6_Missense_Mutation_p.Y14C|ERCC2_ENST00000391940.4_5'UTR	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	14	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.Y14C(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GATGTAGTCGTACGGGAAGTA	0.682			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|pancreas(1)	3						c.(40-42)TAC>TGC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							66.0	65.0	65.0					19																	45873455		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45873455T>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.41A>G	19.37:g.45873455T>C	ENSP00000375809:p.Tyr14Cys					ERCC2_uc010ejz.2_Missense_Mutation_p.Y14C|ERCC2_uc002pbk.2_5'UTR|ERCC2_uc002pbl.3_5'UTR|ERCC2_uc010xxj.1_RNA	p.Y14C	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	2	88	-		Ovarian(192;0.0728)|all_neural(266;0.112)	14			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.41A>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	T	31	5.087791	0.94100	.	.	ENSG00000104884	ENST00000391945;ENST00000391944;ENST00000221481	D;D;D	0.92249	-3.0;-3.0;-3.0	5.62	5.62	0.85841	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.97059	0.9039	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.984;0.999	D	0.97994	1.0356	10	0.87932	D	0	-31.2835	13.7787	0.63071	0.0:0.0:0.0:1.0	.	14;14	E7EVE9;P18074	.;ERCC2_HUMAN	C	14	ENSP00000375809:Y14C;ENSP00000375808:Y14C;ENSP00000221481:Y14C	ENSP00000221481:Y14C	Y	-	2	0	ERCC2	50565295	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	6.428000	0.73383	2.143000	0.66587	0.443000	0.29094	TAC		0.682	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		12	27	0	0	0	0.001855	0	12	27		
SIX5	147912	broad.mit.edu	37	19	46271356	46271356	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:46271356G>A	ENST00000317578.6	-	1	1128	c.747C>T	c.(745-747)ttC>ttT	p.F249F	AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000591530.1_RNA|SIX5_ENST00000560168.1_Nonsense_Mutation_p.Q49*|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000586498.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	249					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCCGGTTCTTGAACCAGTTGC	0.716																																						uc002pdb.2		NaN																	0				ovary(1)	1						c.(745-747)TTC>TTT		SIX homeobox 5							17.0	19.0	18.0					19																	46271356		2199	4295	6494	SO:0001819	synonymous_variant	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46271356G>A	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.747C>T	19.37:g.46271356G>A						SIX5_uc002pdc.2_Silent_p.F249F	p.F249F	NM_175875	NP_787071	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	1	1142	-		Ovarian(192;0.0308)|all_neural(266;0.112)	249			Homeobox.			Silent	SNP	ENST00000317578.6	37	c.747C>T	CCDS12673.1																																																																																				0.716	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3		NM_175875		5	15	0	0	0	0.000602	0	5	15		
PNMAL2	57469	broad.mit.edu	37	19	46997390	46997390	+	Intron	SNP	C	C	T	rs377681319		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:46997390C>T	ENST00000377655.2	-	1	734				PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.E445K|AC011484.1_ENST00000377652.3_5'Flank			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGACCCCCTTCGTCCTCACGG	0.642																																						uc002pes.2		NaN																	0				central_nervous_system(1)	1						c.(1333-1335)GAA>AAA		PNMA-like 2		C	,LYS/GLU	1,3975		0,1,1987	54.0	61.0	59.0		,1333	0.9	0.0	19		59	0,8296		0,0,4148	no	intron,missense	PNMAL2,LOC100506012	NM_001205281.1,NM_020709.1	,56	0,1,6135	TT,TC,CC		0.0,0.0252,0.0081	,possibly-damaging	,445/636	46997390	1,12271	1988	4148	6136	SO:0001627	intron_variant	57469							g.chr19:46997390C>T	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+598G>A	19.37:g.46997390C>T						uc002peu.1_5'Flank	p.E445K	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1780	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	445					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.1333G>A																																																																																					0.642	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding			NM_020709		27	50	0	0	0	0.009535	0	27	50		
HSD17B14	51171	broad.mit.edu	37	19	49334955	49334955	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:49334955C>T	ENST00000263278.4	-	5	605	c.339G>A	c.(337-339)ctG>ctA	p.L113L	HSD17B14_ENST00000599157.1_Intron	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	113					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CCAGTAGGTTCAGCTCCAGCA	0.612																																						uc002pkv.1		NaN																	0					0						c.(337-339)CTG>CTA		dehydrogenase/reductase (SDR family) member 10							64.0	66.0	65.0					19																	49334955		2203	4300	6503	SO:0001819	synonymous_variant	51171				steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr19:49334955C>T	AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	23238	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1"""	612832	"""dehydrogenase/reductase (SDR family) member 10"""	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.339G>A	19.37:g.49334955C>T						HSD17B14_uc010emk.1_Silent_p.L113L	p.L113L	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)	5	605	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	113					Q9UKU3	Silent	SNP	ENST00000263278.4	37	c.339G>A	CCDS12736.1																																																																																				0.612	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1		NM_016246		20	98	0	0	0	0.00278	0	20	98		
FTL	2512	broad.mit.edu	37	19	49469600	49469600	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:49469600G>T	ENST00000331825.6	+	3	519	c.312G>T	c.(310-312)gaG>gaT	p.E104D	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	104	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TGGCCCTGGAGAAAAAGCTGA	0.537																																						uc002plo.2		NaN																	0					0						c.(310-312)GAG>GAT		ferritin, light polypeptide	Iron Dextran(DB00893)						46.0	46.0	46.0					19																	49469600		2203	4300	6503	SO:0001583	missense	2512				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity	g.chr19:49469600G>T	AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.312G>T	19.37:g.49469600G>T	ENSP00000366525:p.Glu104Asp					FTL_uc002pln.1_3'UTR	p.E104D	NM_000146	NP_000137	P02792	FRIL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	3	511	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	104			Ferritin-like diiron.		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	ENST00000331825.6	37	c.312G>T	CCDS33070.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294631	0.60086	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.79749	-1.3	4.46	4.46	0.54185	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	D	0.90817	0.7116	H	0.98407	4.225	0.35111	D	0.766151	B	0.33103	0.397	B	0.43623	0.425	D	0.95351	0.8447	10	0.87932	D	0	.	15.0094	0.71539	0.0:0.0:1.0:0.0	.	104	P02792	FRIL_HUMAN	D	104	ENSP00000366525:E104D	ENSP00000366525:E104D	E	+	3	2	FTL	54161412	1.000000	0.71417	0.998000	0.56505	0.218000	0.24690	4.913000	0.63341	2.485000	0.83878	0.563000	0.77884	GAG		0.537	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1		NM_000146		26	31	1	0	9.86323e-18	0.003954	1.04101e-17	26	31		
TEAD2	8463	broad.mit.edu	37	19	49846565	49846565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:49846565C>T	ENST00000311227.2	-	10	1090	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	TEAD2_ENST00000593945.1_Missense_Mutation_p.E338K|TEAD2_ENST00000377214.4_Missense_Mutation_p.E337K|TEAD2_ENST00000598810.1_Missense_Mutation_p.E338K|TEAD2_ENST00000539846.1_Missense_Mutation_p.E206K|TEAD2_ENST00000601519.1_Missense_Mutation_p.E337K	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	334	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TCCAGGCTCTCATACTGGCTG	0.617																																						uc002pnj.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1000-1002)GAG>AAG		TEA domain family member 2							128.0	101.0	110.0					19																	49846565		2203	4300	6503	SO:0001583	missense	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49846565C>T	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.1000G>A	19.37:g.49846565C>T	ENSP00000310701:p.Glu334Lys					TEAD2_uc002png.2_Missense_Mutation_p.E337K|TEAD2_uc002pnh.2_Missense_Mutation_p.E338K|TEAD2_uc002pni.2_Missense_Mutation_p.E337K|TEAD2_uc010yao.1_Missense_Mutation_p.E206K|TEAD2_uc010emw.2_Missense_Mutation_p.E337K	p.E334K	NM_003598	NP_003589	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	10	1091	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	334			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	c.1000G>A	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975253	0.53720	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.35789	1.29;1.29;1.29	3.82	2.76	0.32466	.	0.000000	0.56097	D	0.000021	T	0.44222	0.1283	M	0.73430	2.235	0.51233	D	0.999914	P;P;P	0.40970	0.658;0.734;0.715	B;P;B	0.46110	0.263;0.504;0.437	T	0.47749	-0.9093	10	0.87932	D	0	-12.7745	9.9183	0.41448	0.0:0.8921:0.0:0.1079	.	206;334;337	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	K	334;337;206	ENSP00000310701:E334K;ENSP00000366419:E337K;ENSP00000437928:E206K	ENSP00000310701:E334K	E	-	1	0	TEAD2	54538377	0.997000	0.39634	0.966000	0.40874	0.083000	0.17756	1.310000	0.33551	0.901000	0.36495	-0.291000	0.09656	GAG		0.617	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1		NM_003598		19	51	0	0	0	0.00278	0	19	51		
TSKS	60385	broad.mit.edu	37	19	50243401	50243401	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:50243401C>T	ENST00000246801.3	-	10	1619	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	TSKS_ENST00000358830.3_Missense_Mutation_p.E313K	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	513					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTCAGGGCCTCTGCCCTGACG	0.647																																						uc002ppm.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(1537-1539)GAG>AAG		testis-specific kinase substrate							55.0	58.0	57.0					19																	50243401		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50243401C>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1537G>A	19.37:g.50243401C>T	ENSP00000246801:p.Glu513Lys						p.E513K	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	10	1548	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	513					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1537G>A	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130406	0.77549	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.44482	0.92;0.92	4.68	4.68	0.58851	.	0.385117	0.22170	N	0.063648	T	0.49201	0.1543	N	0.24115	0.695	0.35335	D	0.785986	D	0.67145	0.996	D	0.76071	0.987	T	0.61004	-0.7150	10	0.66056	D	0.02	-18.2942	12.9555	0.58425	0.0:1.0:0.0:0.0	.	513	Q9UJT2	TSKS_HUMAN	K	513;313	ENSP00000246801:E513K;ENSP00000351691:E313K	ENSP00000246801:E513K	E	-	1	0	TSKS	54935213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.699000	0.54778	2.421000	0.82119	0.514000	0.50259	GAG		0.647	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1		NM_021733		17	72	0	0	0	0.008871	0	17	72		
TSKS	60385	broad.mit.edu	37	19	50245148	50245148	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:50245148C>G	ENST00000246801.3	-	9	1573	c.1491G>C	c.(1489-1491)aaG>aaC	p.K497N	TSKS_ENST00000358830.3_Missense_Mutation_p.K297N	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	497					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTACCAGAATCTTCTTGTGTA	0.582																																						uc002ppm.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(1489-1491)AAG>AAC		testis-specific kinase substrate							143.0	126.0	132.0					19																	50245148		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50245148C>G	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1491G>C	19.37:g.50245148C>G	ENSP00000246801:p.Lys497Asn						p.K497N	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	9	1502	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	497					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1491G>C	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742262	0.69418	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.44881	0.91;0.91	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000019	T	0.50616	0.1626	L	0.29908	0.895	0.34633	D	0.719796	D	0.76494	0.999	D	0.80764	0.994	T	0.63116	-0.6709	10	0.72032	D	0.01	-41.6972	12.7201	0.57137	0.0:1.0:0.0:0.0	.	497	Q9UJT2	TSKS_HUMAN	N	497;297	ENSP00000246801:K497N;ENSP00000351691:K297N	ENSP00000246801:K497N	K	-	3	2	TSKS	54936960	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.463000	0.53050	2.446000	0.82766	0.462000	0.41574	AAG		0.582	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1		NM_021733		43	70	0	0	0	0.013114	0	43	70		
IL4I1	259307	broad.mit.edu	37	19	50393764	50393764	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:50393764C>T	ENST00000391826.2	-	8	1009	c.867G>A	c.(865-867)gcG>gcA	p.A289A	MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000595948.1_Silent_p.A311A|IL4I1_ENST00000341114.3_Silent_p.A311A	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	289						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	CCTGGGTCATCGCCACCACGG	0.682											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pqt.1		NaN																	0				lung(1)|ovary(1)|prostate(1)	3						c.(865-867)GCG>GCA		interleukin 4 induced 1 isoform 1 precursor							23.0	22.0	22.0					19																	50393764		2203	4300	6503	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50393764C>T	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.867G>A	19.37:g.50393764C>T			OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	969	IL4I1_uc002pqv.1_Silent_p.A298A|IL4I1_uc010eno.1_Silent_p.A297A|IL4I1_uc002pqw.1_Silent_p.A297A|IL4I1_uc002pqu.1_Silent_p.A311A	p.A289A	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	8	945	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	289					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.867G>A	CCDS12787.1																																																																																				0.682	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1				3	14	0	0	0	0.004672	0	3	14		
NUP62	23636	broad.mit.edu	37	19	50412045	50412045	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:50412045C>A	ENST00000596217.1	-	2	2907	c.1020G>T	c.(1018-1020)tgG>tgT	p.W340C	NUP62_ENST00000422090.2_Missense_Mutation_p.W340C|NUP62_ENST00000413454.1_Missense_Mutation_p.W340C|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.W340C|NUP62_ENST00000597029.1_Missense_Mutation_p.W340C|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	340					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCTCCAGGCTCCATTTGTTGA	0.647																																						uc002pqx.2		NaN																	0					0						c.(1018-1020)TGG>TGT		nucleoporin 62kDa							68.0	72.0	71.0					19																	50412045		2203	4299	6502	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412045C>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1020G>T	19.37:g.50412045C>A	ENSP00000471191:p.Trp340Cys					IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.W340C|NUP62_uc002pqz.2_Missense_Mutation_p.W340C|NUP62_uc002pra.2_Missense_Mutation_p.W340C|NUP62_uc002prb.2_Missense_Mutation_p.W340C|NUP62_uc002prc.2_Intron	p.W340C	NM_153719	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	1124	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	340			Potential.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.1020G>T	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377817	0.82682	.	.	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	D;D;D	0.88975	-2.45;-2.45;-2.45	5.2	5.2	0.72013	Nucleoporin, NSP1-like, C-terminal (2);	0.000000	0.64402	U	0.000002	D	0.96056	0.8715	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96689	0.9509	9	.	.	.	-5.3115	16.6399	0.85069	0.0:1.0:0.0:0.0	.	340	P37198	NUP62_HUMAN	C	340	ENSP00000305503:W340C;ENSP00000407331:W340C;ENSP00000387991:W340C	.	W	-	3	0	NUP62	55103857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.324000	0.79115	2.876000	0.98609	0.655000	0.94253	TGG		0.647	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1		NM_153719		66	99	1	0	2.73361e-28	0.01441	2.89787e-28	66	99		
JOSD2	126119	broad.mit.edu	37	19	51009492	51009492	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:51009492C>T	ENST00000598418.1	-	5	758	c.505G>A	c.(505-507)Gag>Aag	p.E169K	JOSD2_ENST00000601423.1_Missense_Mutation_p.E169K|JOSD2_ENST00000595669.1_Missense_Mutation_p.E127K|JOSD2_ENST00000391815.3_Missense_Mutation_p.E169K	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	169	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		AGCAGCACCTCGCACAGGCCC	0.682																																						uc002psn.1		NaN																	0					0						c.(505-507)GAG>AAG		Josephin domain containing 2							57.0	51.0	53.0					19																	51009492		2203	4296	6499	SO:0001583	missense	126119				protein deubiquitination		ubiquitin-specific protease activity	g.chr19:51009492C>T	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.505G>A	19.37:g.51009492C>T	ENSP00000468956:p.Glu169Lys					JOSD2_uc002pso.1_Missense_Mutation_p.E169K|JOSD2_uc002psp.1_Missense_Mutation_p.E169K|JOSD2_uc002psq.1_Missense_Mutation_p.E127K	p.E169K	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	5	536	-		all_neural(266;0.131)	169			Josephin.		M0QX25	Missense_Mutation	SNP	ENST00000598418.1	37	c.505G>A	CCDS12797.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084828	0.55861	.	.	ENSG00000161677	ENST00000293431;ENST00000391815	T	0.44083	0.93	3.48	2.43	0.29744	.	0.068795	0.56097	U	0.000032	T	0.46852	0.1414	M	0.90542	3.125	0.58432	D	0.999999	P;P	0.51351	0.944;0.944	B;B	0.39805	0.31;0.31	T	0.56938	-0.7896	10	0.87932	D	0	-19.0763	9.127	0.36821	0.0:0.7749:0.2251:0.0	.	189;169	Q7Z7N5;Q8TAC2	.;JOS2_HUMAN	K	189;169	ENSP00000375691:E169K	ENSP00000293431:E189K	E	-	1	0	JOSD2	55701304	0.970000	0.33590	0.990000	0.47175	0.737000	0.42083	1.455000	0.35190	0.592000	0.29728	-0.676000	0.03789	GAG		0.682	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1		NM_138334		6	42	0	0	0	0.001168	0	6	42		
SHANK1	50944	broad.mit.edu	37	19	51219555	51219555	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:51219555C>G	ENST00000293441.1	-	2	454	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	SHANK1_ENST00000391814.1_Missense_Mutation_p.E146Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.E146Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	146					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCCCCTTCTCAAAGGACTGG	0.582																																						uc002psx.1		NaN																	0				large_intestine(2)	2						c.(436-438)GAG>CAG		SH3 and multiple ankyrin repeat domains 1							45.0	50.0	49.0					19																	51219555		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219555C>G	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.436G>C	19.37:g.51219555C>G	ENSP00000293441:p.Glu146Gln						p.E146Q	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	2	455	-		all_neural(266;0.057)	146					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.436G>C	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	c	9.470	1.095502	0.20471	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.17854	2.25;2.25;2.25	2.81	2.81	0.32909	.	0.000000	0.56097	U	0.000023	T	0.27900	0.0687	L	0.60455	1.87	0.41670	D	0.989239	D	0.65815	0.995	P	0.54889	0.763	T	0.06075	-1.0847	10	0.39692	T	0.17	.	12.8319	0.57750	0.0:1.0:0.0:0.0	.	146	Q9Y566	SHAN1_HUMAN	Q	146	ENSP00000293441:E146Q;ENSP00000351984:E146Q;ENSP00000375690:E146Q	ENSP00000293441:E146Q	E	-	1	0	SHANK1	55911367	0.942000	0.31987	0.804000	0.32291	0.002000	0.02628	2.056000	0.41355	1.582000	0.49881	0.450000	0.29827	GAG		0.582	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1		NM_016148		47	75	0	0	0	0.01441	0	47	75		
KLK11	11012	broad.mit.edu	37	19	51527533	51527533	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:51527533G>T	ENST00000594768.1	-	4	512	c.327C>A	c.(325-327)ctC>ctA	p.L109L	KLK11_ENST00000453757.3_Silent_p.L77L|KLK11_ENST00000391804.3_Silent_p.L102L|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000319720.7_Silent_p.L77L|KLK11_ENST00000594458.1_5'UTR	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	109	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CCTCCTTCTGGAGGTTGTGCT	0.602																																						uc002pvd.1		NaN																	0					0						c.(325-327)CTC>CTA		kallikrein 11 isoform 2 precursor							97.0	102.0	100.0					19																	51527533		2203	4300	6503	SO:0001819	synonymous_variant	11012				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51527533G>T	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.327C>A	19.37:g.51527533G>T						KLK11_uc002pvb.1_Silent_p.L102L|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvf.1_Silent_p.L77L|KLK11_uc002pvc.3_Silent_p.L77L|KLK11_uc010eom.2_Missense_Mutation_p.P79T	p.L109L	NM_144947	NP_659196	Q9UBX7	KLK11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)	4	439	-		all_neural(266;0.026)	109			Peptidase S1.		O75837|Q0WXX5|Q8IXD7|Q9NS65	Silent	SNP	ENST00000594768.1	37	c.327C>A	CCDS12818.1																																																																																				0.602	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2		NM_006853		55	56	1	0	1.38814e-16	0.01441	1.46226e-16	55	56		
SIGLEC10	89790	broad.mit.edu	37	19	51920200	51920200	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:51920200C>T	ENST00000339313.5	-	3	542	c.426G>A	c.(424-426)ctG>ctA	p.L142L	SIGLEC10_ENST00000525998.1_Silent_p.L142L|SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000356298.5_Silent_p.L142L|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000432469.2_Silent_p.L142L|SIGLEC10_ENST00000353836.5_Silent_p.L142L			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	142					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCTTCTGAGTCAGGGCTGGGA	0.622																																						uc002pwo.2		NaN																	0				skin(1)	1						c.(424-426)CTG>CTA		sialic acid binding Ig-like lectin 10 precursor							70.0	81.0	77.0					19																	51920200		2203	4300	6503	SO:0001819	synonymous_variant	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51920200C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.426G>A	19.37:g.51920200C>T						SIGLEC10_uc002pwp.2_Intron|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Silent_p.L142L|SIGLEC10_uc010ycy.1_Silent_p.L142L|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_5'UTR|SIGLEC10_uc002pws.1_Intron	p.L142L	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	3	1042	-		all_neural(266;0.0199)	142			Extracellular (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	c.426G>A	CCDS12832.1																																																																																				0.622	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2		NM_033130		90	72	0	0	0	0.01441	0	90	72		
ZNF615	284370	broad.mit.edu	37	19	52498046	52498046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52498046G>A	ENST00000602063.1	-	6	632	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	ZNF615_ENST00000376716.5_Nonsense_Mutation_p.Q95*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.Q106*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.Q100*|ZNF615_ENST00000594083.1_Nonsense_Mutation_p.Q106*			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGAATACTTTGATTTTGCAAG	0.348																																						uc002pye.1		NaN																	0				ovary(4)|skin(1)	5						c.(283-285)CAA>TAA		zinc finger protein 615							60.0	56.0	57.0					19																	52498046		2203	4299	6502	SO:0001587	stop_gained	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52498046G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.283C>T	19.37:g.52498046G>A	ENSP00000473089:p.Gln95*					ZNF615_uc002pyf.1_Nonsense_Mutation_p.Q106*|ZNF615_uc002pyg.1_5'UTR|ZNF615_uc002pyh.1_Nonsense_Mutation_p.Q106*|ZNF615_uc010epi.1_Nonsense_Mutation_p.Q102*|ZNF615_uc010ydg.1_Nonsense_Mutation_p.Q100*	p.Q95*	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	575	-		all_neural(266;0.117)	95					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Nonsense_Mutation	SNP	ENST00000602063.1	37	c.283C>T	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425840	0.43020	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	.	.	.	3.31	-2.4	0.06583	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	12.6543	0.56778	0.0:0.7105:0.2895:0.0	.	.	.	.	X	95;105;100;105	.	ENSP00000347019:Q105X	Q	-	1	0	ZNF615	57189858	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-0.657000	0.05335	-0.101000	0.12219	0.655000	0.94253	CAA		0.348	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1		NM_198480		21	148	0	0	0	0.012319	0	21	148		
ZNF841	284371	broad.mit.edu	37	19	52568426	52568426	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52568426G>A	ENST00000426391.2	-	5	2912	c.2361C>T	c.(2359-2361)aaC>aaT	p.N787N	ZNF841_ENST00000594295.1_Silent_p.N903N|ZNF841_ENST00000359973.2_Silent_p.N479N|ZNF841_ENST00000389534.4_Silent_p.N903N|CTC-471J1.2_ENST00000569091.1_RNA|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	787					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TAGTTGTAAGGTTCTCTCCAG	0.368																																						uc002pyl.1		NaN																	0					0						c.(2359-2361)AAC>AAT		zinc finger protein 841							274.0	228.0	242.0					19																	52568426		692	1591	2283	SO:0001819	synonymous_variant	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52568426G>A	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.2361C>T	19.37:g.52568426G>A						ZNF841_uc010ydh.1_Silent_p.N903N|ZNF841_uc010epk.1_Silent_p.N479N	p.N787N	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN			5	2913	-			787					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	ENST00000426391.2	37	c.2361C>T																																																																																					0.368	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1		XM_209155		9	62	0	0	0	0.006214	0	9	62		
ZNF616	90317	broad.mit.edu	37	19	52618287	52618287	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52618287G>A	ENST00000600228.1	-	4	2391	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	710					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTCCAGTGTGGATTCTCTGGT	0.398																																						uc002pym.2		NaN																	0					0						c.(2128-2130)ATC>ATT		zinc finger protein 616							147.0	140.0	142.0					19																	52618287		2203	4300	6503	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618287G>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2130C>T	19.37:g.52618287G>A						ZNF616_uc002pyn.2_RNA	p.I710I	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2413	-			710			C2H2-type 19.		B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.2130C>T	CCDS33090.1																																																																																				0.398	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1		XM_030892		50	362	0	0	0	0.01441	0	50	362		
ZNF836	162962	broad.mit.edu	37	19	52659824	52659824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52659824G>A	ENST00000322146.8	-	5	1633	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	ZNF836_ENST00000597252.1_Missense_Mutation_p.S371F|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACAAGATTAGAATTCTGCCT	0.403																																						uc010ydi.1		NaN																	0					0						c.(1111-1113)TCT>TTT		zinc finger protein 836							86.0	88.0	87.0					19																	52659824		2192	4300	6492	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659824G>A	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1112C>T	19.37:g.52659824G>A	ENSP00000325038:p.Ser371Phe					ZNF836_uc010ydj.1_Missense_Mutation_p.S371F	p.S371F	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			5	1486	-			371			C2H2-type 6.			Missense_Mutation	SNP	ENST00000322146.8	37	c.1112C>T	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798694	0.31777	.	.	ENSG00000196267	ENST00000322146	T	0.07567	3.18	1.89	-0.927	0.10451	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16685	0.0401	M	0.85777	2.775	0.09310	N	1	P	0.44344	0.833	P	0.48454	0.578	T	0.11446	-1.0587	9	0.62326	D	0.03	.	4.6419	0.12552	0.1795:0.4784:0.3421:0.0	.	371	Q6ZNA1	ZN836_HUMAN	F	371	ENSP00000325038:S371F	ENSP00000325038:S371F	S	-	2	0	ZNF836	57351636	0.000000	0.05858	0.001000	0.08648	0.287000	0.27160	-0.538000	0.06120	0.138000	0.18790	0.298000	0.19748	TCT		0.403	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1		NM_001102657		34	79	0	0	0	0.013726	0	34	79		
ZNF836	162962	broad.mit.edu	37	19	52663830	52663830	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52663830G>A	ENST00000322146.8	-	4	551	c.30C>T	c.(28-30)ttC>ttT	p.F10F	ZNF836_ENST00000597065.1_Silent_p.F10F|ZNF836_ENST00000597252.1_Silent_p.F10F|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	10	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTACATCCCTGAATGTCAAAG	0.433																																						uc010ydi.1		NaN																	0					0						c.(28-30)TTC>TTT		zinc finger protein 836							80.0	86.0	84.0					19																	52663830		2202	4300	6502	SO:0001819	synonymous_variant	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52663830G>A	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.30C>T	19.37:g.52663830G>A						ZNF836_uc010ydj.1_Silent_p.F10F	p.F10F	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			4	404	-			10			KRAB.			Silent	SNP	ENST00000322146.8	37	c.30C>T	CCDS46162.1																																																																																				0.433	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1		NM_001102657		20	174	0	0	0	0.008871	0	20	174		
ZNF534	147658	broad.mit.edu	37	19	52937222	52937222	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52937222C>A	ENST00000332323.6	+	2	91	c.30C>A	c.(28-30)ttC>ttA	p.F10L	ZNF534_ENST00000433050.1_Missense_Mutation_p.F10L|ZNF534_ENST00000432303.2_Missense_Mutation_p.F10L|ZNF534_ENST00000301085.4_Missense_Mutation_p.F10L	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	10	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AATTGTCATTCAGCGATGTGG	0.443																																						uc002pzk.2		NaN																	0					0						c.(28-30)TTC>TTA		zinc finger protein 534 isoform 2							106.0	96.0	99.0					19																	52937222		1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52937222C>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.30C>A	19.37:g.52937222C>A	ENSP00000327538:p.Phe10Leu					ZNF534_uc002pzj.1_Missense_Mutation_p.F10L|ZNF534_uc010epo.1_Missense_Mutation_p.F10L|ZNF534_uc002pzl.2_Missense_Mutation_p.F10L	p.F10L	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			2	91	+			10			KRAB.		Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.30C>A	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	3.946	-0.013191	0.07727	.	.	ENSG00000198633	ENST00000301085;ENST00000432303;ENST00000332323;ENST00000433050;ENST00000391790	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	0.978	0.978	0.19740	Krueppel-associated box (4);	.	.	.	.	T	0.23410	0.0566	M	0.82132	2.575	0.09310	N	0.999999	D;P;D;P	0.59357	0.985;0.903;0.979;0.927	D;B;D;P	0.74023	0.965;0.232;0.982;0.758	T	0.07578	-1.0765	9	0.87932	D	0	.	3.2711	0.06882	0.0:0.5215:0.0:0.4785	.	10;10;10;10	Q1T7F6;Q76KX8-2;Q76KX8;Q1T7F5	.;.;ZN534_HUMAN;.	L	10;10;10;10;9	ENSP00000301085:F10L;ENSP00000409421:F10L;ENSP00000327538:F10L;ENSP00000391358:F10L	ENSP00000301085:F10L	F	+	3	2	ZNF534	57629034	0.014000	0.17966	0.556000	0.28293	0.076000	0.17211	-0.317000	0.08060	0.829000	0.34733	0.404000	0.27445	TTC		0.443	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1		NM_182512		13	159	1	0	4.7546e-09	0.004007	4.92952e-09	13	159		
ZNF578	147660	broad.mit.edu	37	19	53014288	53014288	+	Silent	SNP	C	C	G	rs548408753		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:53014288C>G	ENST00000421239.2	+	6	898	c.654C>G	c.(652-654)ctC>ctG	p.L218L	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CATCATTACTCACACAAAAAC	0.348																																						uc002pzp.3		NaN																	0					0						c.(652-654)CTC>CTG		zinc finger protein 578							67.0	69.0	69.0					19																	53014288		2202	4300	6502	SO:0001819	synonymous_variant	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014288C>G	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.654C>G	19.37:g.53014288C>G							p.L218L	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	898	+			133			C2H2-type 5.		B4DR51|I3L1Y6	Silent	SNP	ENST00000421239.2	37	c.654C>G	CCDS54310.1																																																																																				0.348	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3		NM_152472		27	213	0	0	0	0.004656	0	27	213		
ZNF320	162967	broad.mit.edu	37	19	53384869	53384869	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:53384869G>C	ENST00000595635.1	-	8	1011	c.510C>G	c.(508-510)ttC>ttG	p.F170L	ZNF320_ENST00000391781.2_Missense_Mutation_p.F170L|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATTTGCAACTGAAAACTTTCT	0.358																																						uc002qag.2		NaN																	0					0						c.(508-510)TTC>TTG		zinc finger protein 320							64.0	63.0	63.0					19																	53384869		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384869G>C	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.510C>G	19.37:g.53384869G>C	ENSP00000473091:p.Phe170Leu					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.F116L|ZNF320_uc002qai.2_Missense_Mutation_p.F170L	p.F170L	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	701	-			170			C2H2-type 1.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.510C>G	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	13.30	2.196121	0.38806	.	.	ENSG00000182986	ENST00000391781	T	0.46063	0.88	1.75	0.479	0.16796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57227	0.2039	M	0.91920	3.255	0.09310	N	1	D	0.56287	0.975	P	0.51918	0.684	T	0.51204	-0.8735	9	0.72032	D	0.01	.	6.3089	0.21154	0.2078:0.0:0.7922:0.0	.	170	A2RRD8	ZN320_HUMAN	L	170	ENSP00000375660:F170L	ENSP00000375660:F170L	F	-	3	2	ZNF320	58076681	0.099000	0.21834	0.001000	0.08648	0.017000	0.09413	-0.107000	0.10873	-0.063000	0.13065	0.196000	0.17591	TTC		0.358	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1		NM_207333		15	205	0	0	0	0.003163	0	15	205		
ZNF347	84671	broad.mit.edu	37	19	53644301	53644301	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:53644301C>T	ENST00000334197.7	-	5	1848	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	ZNF347_ENST00000601469.2_Missense_Mutation_p.E595K|ZNF347_ENST00000452676.2_Missense_Mutation_p.E595K|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	594					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TAAGGTTTCTCTCCAGTATGA	0.398																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NaN																	0					0						c.(1780-1782)GAG>AAG		zinc finger protein 347							107.0	105.0	106.0					19																	53644301		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644301C>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1780G>A	19.37:g.53644301C>T	ENSP00000334146:p.Glu594Lys					ZNF347_uc010eql.1_Missense_Mutation_p.E595K|ZNF347_uc002qbc.1_Missense_Mutation_p.E595K	p.E594K	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1849	-			594					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1780G>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301524	0.40694	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.24350	1.86;1.86	3.01	-2.18	0.07037	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15262	0.0368	L	0.41236	1.265	0.29706	N	0.839796	P;P	0.39920	0.695;0.671	B;B	0.33799	0.108;0.17	T	0.15780	-1.0425	9	0.66056	D	0.02	.	4.292	0.10883	0.1568:0.5501:0.0:0.2931	.	595;594	G5E9N4;Q96SE7	.;ZN347_HUMAN	K	594;595	ENSP00000334146:E594K;ENSP00000405218:E595K	ENSP00000334146:E594K	E	-	1	0	ZNF347	58336113	0.003000	0.15002	0.076000	0.20297	0.052000	0.14988	1.106000	0.31098	-0.473000	0.06871	-0.181000	0.13052	GAG		0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1		NM_032584		46	353	0	0	0	0.011902	0	46	353		
ZNF347	84671	broad.mit.edu	37	19	53656992	53656992	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:53656992G>A	ENST00000334197.7	-	2	77	c.9C>T	c.(7-9)ctC>ctT	p.L3L	ZNF347_ENST00000601469.2_Silent_p.L3L|ZNF347_ENST00000452676.2_Silent_p.L3L|ZNF347_ENST00000601804.1_5'UTR	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTACCTGGGTGAGAGCCATGC	0.398																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NaN																	0					0						c.(7-9)CTC>CTT		zinc finger protein 347							199.0	180.0	186.0					19																	53656992		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53656992G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.9C>T	19.37:g.53656992G>A						ZNF347_uc010eql.1_Silent_p.L3L|ZNF347_uc002qbc.1_Silent_p.L3L	p.L3L	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	2	78	-			3					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.9C>T	CCDS33097.1																																																																																				0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1		NM_032584		28	238	0	0	0	0.010818	0	28	238		
CACNG8	59283	broad.mit.edu	37	19	54483190	54483190	+	Missense_Mutation	SNP	T	T	G	rs202244345	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54483190T>G	ENST00000270458.2	+	3	540	c.437T>G	c.(436-438)gTg>gGg	p.V146G	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	146					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V146G(2)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGTGTGTGCGTGGCGGCCTCC	0.647																																						uc002qcs.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|kidney(1)		0						c.(433-435)GTG>GGG		voltage-dependent calcium channel gamma-8							34.0	35.0	35.0					19																	54483190		2203	4300	6503	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54483190T>G	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.437T>G	19.37:g.54483190T>G	ENSP00000270458:p.Val146Gly					MIR935_hsa-mir-935|MI0005757_5'Flank	p.V145G	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	3	540	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		146			Helical; (Potential).		Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.434T>G	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	.	26.5	4.741359	0.89573	.	.	ENSG00000142408	ENST00000270458	D	0.89415	-2.51	4.53	4.53	0.55603	.	0.191865	0.32671	U	0.005796	D	0.90947	0.7154	L	0.39633	1.23	0.32725	N	0.509773	D	0.76494	0.999	D	0.73380	0.98	D	0.93456	0.6806	9	0.72032	D	0.01	4.3012	12.2158	0.54406	0.0:0.0:0.0:1.0	.	146	Q8WXS5	CCG8_HUMAN	G	146	ENSP00000270458:V146G	ENSP00000270458:V146G	V	+	2	0	CACNG8	59175002	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.508000	0.81686	1.851000	0.53745	0.434000	0.28630	GTG		0.647	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3				7	17	0	0	0	0.00308	0	7	17		
PRPF31	26121	broad.mit.edu	37	19	54628017	54628017	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54628017C>T	ENST00000321030.4	+	8	1186	c.837C>T	c.(835-837)atC>atT	p.I279I	PRPF31_ENST00000391755.1_Silent_p.I279I|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Silent_p.I279I|PRPF31_ENST00000498612.1_3'UTR	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	279	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)	p.I279I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGTGACATCGTGCAGTCCC	0.672																																						uc002qdh.2		NaN																	1	Substitution - coding silent(1)	p.I279I(1)	ovary(1)	ovary(1)	1						c.(835-837)ATC>ATT		pre-mRNA processing factor 31 homolog							86.0	71.0	76.0					19																	54628017		2203	4300	6503	SO:0001819	synonymous_variant	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54628017C>T	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.837C>T	19.37:g.54628017C>T						PRPF31_uc010yek.1_Silent_p.I279I	p.I279I	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN			8	1233	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		279			Nop.		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Silent	SNP	ENST00000321030.4	37	c.837C>T	CCDS12879.1																																																																																				0.672	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2				7	64	0	0	0	0.001984	0	7	64		
CNOT3	4849	broad.mit.edu	37	19	54649696	54649696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54649696G>T	ENST00000406403.1	+	8	2357	c.754G>T	c.(754-756)Gag>Tag	p.E252*	CNOT3_ENST00000221232.5_Nonsense_Mutation_p.E252*|CNOT3_ENST00000358389.3_Nonsense_Mutation_p.E71*			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	252					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CATGGAGGATGAGATCTTCAA	0.642																																						uc002qdj.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(754-756)GAG>TAG		CCR4-NOT transcription complex, subunit 3							181.0	143.0	156.0					19																	54649696		2203	4300	6503	SO:0001587	stop_gained	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649696G>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.754G>T	19.37:g.54649696G>T	ENSP00000383954:p.Glu252*					CNOT3_uc010yel.1_Nonsense_Mutation_p.E252*|CNOT3_uc002qdi.2_Nonsense_Mutation_p.E165*|CNOT3_uc002qdk.1_Nonsense_Mutation_p.E252*|CNOT3_uc010ere.1_RNA	p.E252*	NM_014516	NP_055331	O75175	CNOT3_HUMAN			9	1065	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		252					Q9NZN7|Q9UF76	Nonsense_Mutation	SNP	ENST00000406403.1	37	c.754G>T	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.760041|11.760041	0.99599|0.99599	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000440571	.|.	.|.	.|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72162	.|0.3426	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73157	.|-0.4071	.|3	0.10377|.	T|.	0.69|.	-33.5882|-33.5882	17.1265|17.1265	0.86715|0.86715	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	252;71;252|173	.|.	ENSP00000221232:E252X|.	E|M	+|+	1|3	0|0	CNOT3|CNOT3	59341508|59341508	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.999000|0.999000	0.98932|0.98932	8.702000|8.702000	0.91338|0.91338	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.642	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3		NM_014516		17	73	1	0	1.10513e-12	0.014323	1.15629e-12	17	73		
TMC4	147798	broad.mit.edu	37	19	54664083	54664083	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54664083C>T	ENST00000376591.4	-	15	2230	c.2099G>A	c.(2098-2100)cGg>cAg	p.R700Q	TMC4_ENST00000416963.1_Missense_Mutation_p.R282Q|LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.R694Q	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	700					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACAGCGCGCCGTGCCAGGAA	0.612																																						uc010erf.2		NaN																	0				pancreas(1)	1						c.(2098-2100)CGG>CAG		transmembrane channel-like 4 isoform 1							79.0	88.0	85.0					19																	54664083		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54664083C>T	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.2099G>A	19.37:g.54664083C>T	ENSP00000365776:p.Arg700Gln					LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Missense_Mutation_p.R414Q|TMC4_uc002qdo.2_Missense_Mutation_p.R694Q	p.R700Q	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			15	2231	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		700			Cytoplasmic (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.2099G>A	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	C	8.859	0.946532	0.18356	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.71698	-0.59;-0.59;-0.59	5.37	4.35	0.52113	.	0.564085	0.18668	N	0.134523	T	0.31009	0.0783	N	0.00566	-1.37	0.29555	N	0.851034	B;B;B	0.13145	0.003;0.007;0.004	B;B;B	0.11329	0.001;0.004;0.006	T	0.36089	-0.9762	10	0.02654	T	1	-20.3554	7.7051	0.28646	0.0:0.0986:0.0:0.9014	.	700;694;282	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	Q	694;282;700	ENSP00000301187:R694Q;ENSP00000405023:R282Q;ENSP00000365776:R700Q	ENSP00000301187:R694Q	R	-	2	0	TMC4	59355895	0.871000	0.30034	1.000000	0.80357	0.988000	0.76386	0.631000	0.24568	1.007000	0.39238	-0.312000	0.09012	CGG		0.612	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2				30	235	0	0	0	0.009535	0	30	235		
TMC4	147798	broad.mit.edu	37	19	54666432	54666432	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54666432G>A	ENST00000376591.4	-	10	1625	c.1494C>T	c.(1492-1494)gtC>gtT	p.V498V	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000416963.1_Silent_p.V80V|LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000301187.4_Silent_p.V492V	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	498					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGCAGCGCGACTGCCAAGA	0.547																																						uc010erf.2		NaN																	0				pancreas(1)	1						c.(1492-1494)GTC>GTT		transmembrane channel-like 4 isoform 1							45.0	48.0	47.0					19																	54666432		2203	4300	6503	SO:0001819	synonymous_variant	147798					integral to membrane		g.chr19:54666432G>A	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1494C>T	19.37:g.54666432G>A						LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Silent_p.V212V|TMC4_uc002qdo.2_Silent_p.V492V	p.V498V	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			10	1626	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		498			Helical; (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	c.1494C>T	CCDS46174.1																																																																																				0.547	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2				4	36	0	0	0	0.009096	0	4	36		
LILRA5	353514	broad.mit.edu	37	19	54823808	54823808	+	Splice_Site	SNP	G	G	A	rs201892026		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54823808G>A	ENST00000301219.3	-	2	206	c.87C>T	c.(85-87)ctC>ctT	p.L29L	LILRA5_ENST00000346508.3_Splice_Site_p.L29L|LILRA5_ENST00000432233.3_Splice_Site_p.L29L|LILRA5_ENST00000446712.3_Splice_Site_p.L29L|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	29					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L29L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAATCTCACCGAGGCAGAGCA	0.602																																						uc002qfe.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(85-87)CTC>CTT		leukocyte immunoglobulin-like receptor subfamily							53.0	44.0	47.0					19																	54823808		2203	4300	6503	SO:0001630	splice_region_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823808G>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.88+1C>T	19.37:g.54823808G>A						LILRA5_uc002qff.2_Silent_p.L29L|LILRA5_uc010yev.1_Silent_p.L29L|LILRA5_uc010yew.1_Silent_p.L29L|LILRA5_uc002qfh.1_Silent_p.L29L|LILRA5_uc002qfg.1_Silent_p.L29L	p.L29L	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	2	207	-	Ovarian(34;0.19)		29					A6NHI3	Silent	SNP	ENST00000301219.3	37	c.87C>T	CCDS12888.1																																																																																				0.602	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1		NM_181985	Silent	8	71	0	0	0	0.004482	0	8	71		
LENG9	94059	broad.mit.edu	37	19	54973372	54973372	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54973372G>A	ENST00000333834.4	-	1	1522	c.1404C>T	c.(1402-1404)ctC>ctT	p.L468L		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	468							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CTTCCTGGCTGAGGGTGAACT	0.647																																						uc010yez.1		NaN																	0					0						c.(1402-1404)CTC>CTT		leukocyte receptor cluster (LRC) member 9							51.0	57.0	55.0					19																	54973372		2203	4300	6503	SO:0001819	synonymous_variant	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973372G>A	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1404C>T	19.37:g.54973372G>A							p.L468L	NM_198988	NP_945339	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	1523	-	Ovarian(34;0.19)		468					B2VAM3	Silent	SNP	ENST00000333834.4	37	c.1404C>T	CCDS12895.2																																																																																				0.647	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3		NM_198988		92	96	0	0	0	0.01441	0	92	96		
NLRP2	55655	broad.mit.edu	37	19	55508802	55508802	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:55508802G>A	ENST00000543010.1	+	12	3140	c.2997G>A	c.(2995-2997)gtG>gtA	p.V999V	NLRP2_ENST00000427260.2_Silent_p.V976V|NLRP2_ENST00000263437.6_Silent_p.V996V|NLRP2_ENST00000537859.1_Silent_p.V977V|NLRP2_ENST00000448584.2_Silent_p.V999V|NLRP2_ENST00000391721.4_Silent_p.V975V|NLRP2_ENST00000538819.1_Silent_p.V975V|NLRP2_ENST00000339757.7_Silent_p.V977V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	999					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTAGTGGAGTGAAGATGCTGT	0.537																																						uc002qij.2		NaN																	0				ovary(1)|skin(1)	2						c.(2995-2997)GTG>GTA		NLR family, pyrin domain containing 2							217.0	195.0	203.0					19																	55508802		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55508802G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2997G>A	19.37:g.55508802G>A						NLRP2_uc010yfp.1_Silent_p.V976V|NLRP2_uc010esn.2_Silent_p.V975V|NLRP2_uc010eso.2_Silent_p.V996V|NLRP2_uc010esp.2_Silent_p.V977V	p.V999V	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	12	3083	+			999			LRR 7.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.2997G>A	CCDS12913.1																																																																																				0.537	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852		187	158	0	0	0	0.01441	0	187	158		
DNAAF3	352909	broad.mit.edu	37	19	55670468	55670468	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:55670468G>A	ENST00000524407.2	-	12	1621	c.1588C>T	c.(1588-1590)Ccg>Tcg	p.P530S	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Missense_Mutation_p.P476S|DNAAF3_ENST00000587789.2_5'UTR|TNNI3_ENST00000590463.1_5'Flank|CTD-2587H24.4_ENST00000587871.1_Intron|TNNI3_ENST00000344887.5_5'Flank|DNAAF3_ENST00000527223.2_Missense_Mutation_p.P597S|TNNI3_ENST00000588882.1_5'Flank|DNAAF3_ENST00000391720.4_Missense_Mutation_p.P577S			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	530					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CAGTTGGGCGGAGCCAAGGCC	0.587																																						uc002qji.1		NaN																	0					0						c.(1588-1590)CCG>TCG		RecName: Full=UPF0470 protein C19orf51;							24.0	27.0	26.0					19																	55670468		1844	4094	5938	SO:0001583	missense	352909							g.chr19:55670468G>A	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1588C>T	19.37:g.55670468G>A	ENSP00000432046:p.Pro530Ser					TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.P345S|C19orf51_uc002qjj.1_Missense_Mutation_p.P577S|C19orf51_uc002qjk.1_Missense_Mutation_p.P476S|C19orf51_uc002qjl.1_Missense_Mutation_p.P597S	p.P530S			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1622	-			530					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.1588C>T	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	g	8.454	0.853846	0.17106	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.21543	2.05;2.0	2.18	-4.35	0.03656	.	13.979700	0.00447	N	0.000086	T	0.17280	0.0415	L	0.44542	1.39	0.09310	N	1	P;B;B;P	0.41313	0.745;0.392;0.0;0.526	B;B;B;B	0.39068	0.266;0.181;0.0;0.289	T	0.15321	-1.0441	10	0.44086	T	0.13	4.139	4.1785	0.10363	0.2221:0.0:0.3249:0.453	.	597;476;550;530	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	S	597;476;577	ENSP00000394343:P476S;ENSP00000375600:P577S	ENSP00000301249:P597S	P	-	1	0	C19orf51	60362280	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.457000	0.06745	-1.886000	0.01116	-1.149000	0.01842	CCG		0.587	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5		NM_178837		52	31	0	0	0	0.01441	0	52	31		
SYT5	6861	broad.mit.edu	37	19	55686347	55686347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:55686347G>C	ENST00000354308.3	-	7	1098	c.729C>G	c.(727-729)atC>atG	p.I243M	SYT5_ENST00000537500.1_Missense_Mutation_p.I243M|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.I239M|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	243					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGGAGAAGCAGATGTCCCCAA	0.607																																						uc002qjm.1		NaN																	0					0						c.(727-729)ATC>ATG		synaptotagmin V							80.0	77.0	78.0					19																	55686347		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55686347G>C	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.729C>G	19.37:g.55686347G>C	ENSP00000346265:p.Ile243Met					SYT5_uc002qjp.2_Missense_Mutation_p.I239M|SYT5_uc002qjn.1_Missense_Mutation_p.I243M|SYT5_uc002qjo.1_Missense_Mutation_p.I242M	p.I243M	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	6	1789	-			243			Cytoplasmic (Potential).		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.729C>G	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111809	0.56398	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.76316	-1.01;-1.01	3.87	1.56	0.23342	C2 calcium/lipid-binding domain, CaLB (1);	0.113476	0.56097	D	0.000024	D	0.84660	0.5521	M	0.94021	3.485	0.42452	D	0.992752	P;P;P	0.51351	0.944;0.933;0.88	P;P;P	0.51016	0.504;0.518;0.656	D	0.84281	0.0494	10	0.87932	D	0	.	7.5216	0.27631	0.0942:0.0:0.7413:0.1645	.	239;242;243	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	M	243;243;239	ENSP00000442896:I243M;ENSP00000346265:I243M	ENSP00000346265:I243M	I	-	3	3	SYT5	60378159	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	1.971000	0.40530	0.340000	0.23745	0.305000	0.20034	ATC		0.607	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1		NM_003180		68	28	0	0	0	0.01441	0	68	28		
UBE2S	27338	broad.mit.edu	37	19	55912936	55912936	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:55912936G>A	ENST00000264552.9	-	4	724	c.537C>T	c.(535-537)tcC>tcT	p.S179S	CTD-2105E13.13_ENST00000589101.1_lincRNA|RPL28_ENST00000560055.1_Intron|UBE2S_ENST00000592570.1_5'Flank	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	179					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		CAGGGTCGGTGGAGGAAGCTT	0.711																																						uc002qkx.1		NaN																	0					0						c.(535-537)TCC>TCT		ubiquitin-conjugating enzyme E2S							12.0	14.0	13.0					19																	55912936		1884	3897	5781	SO:0001819	synonymous_variant	27338				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity	g.chr19:55912936G>A	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"""Ubiquitin-conjugating enzymes E2"""	17895	protein-coding gene	gene with protein product	"""ubiquitin carrier protein"", ""ubiquitin-conjugating enzyme E2-24 kD"", ""ubiquitin-protein ligase"""	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.537C>T	19.37:g.55912936G>A							p.S179S	NM_014501	NP_055316	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)	4	905	-	Breast(117;0.155)		179					Q9BTC1	Silent	SNP	ENST00000264552.9	37	c.537C>T	CCDS33114.1																																																																																				0.711	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1		NM_014501		3	30	0	0	0	0.000602	0	3	30		
NLRP4	147945	broad.mit.edu	37	19	56369323	56369323	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:56369323C>A	ENST00000301295.6	+	3	986	c.564C>A	c.(562-564)ttC>ttA	p.F188L	NLRP4_ENST00000346986.5_Missense_Mutation_p.F188L|NLRP4_ENST00000587891.1_Missense_Mutation_p.F113L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	188	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGTTCTATTTCTGCTGCAGAG	0.507																																						uc002qmd.3		NaN																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(562-564)TTC>TTA		NLR family, pyrin domain containing 4							105.0	106.0	106.0					19																	56369323		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369323C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.564C>A	19.37:g.56369323C>A	ENSP00000301295:p.Phe188Leu					NLRP4_uc002qmf.2_Missense_Mutation_p.F113L|NLRP4_uc010etf.2_Missense_Mutation_p.F19L	p.F188L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	986	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	188			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.564C>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271136	0.23221	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.76186	-1.0;-1.0	4.24	0.741	0.18336	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.46034	0.1372	N	0.10837	0.055	0.09310	N	1	B;P;P	0.42078	0.106;0.77;0.767	B;B;B	0.38683	0.105;0.237;0.279	T	0.40289	-0.9571	9	0.07990	T	0.79	.	4.0643	0.09852	0.1642:0.584:0.1592:0.0925	.	188;113;188	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	L	188	ENSP00000301295:F188L;ENSP00000344787:F188L	ENSP00000301295:F188L	F	+	3	2	NLRP4	61061135	0.000000	0.05858	0.002000	0.10522	0.349000	0.29174	-1.157000	0.03157	0.142000	0.18901	0.655000	0.94253	TTC		0.507	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444		21	225	1	0	1.01871e-10	0.008871	1.06177e-10	21	225		
ZNF71	58491	broad.mit.edu	37	19	57132856	57132856	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:57132856C>G	ENST00000328070.6	+	3	435	c.201C>G	c.(199-201)ctC>ctG	p.L67L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGAACAAACTCTTAGGGGGCT	0.607																																						uc002qnm.3		NaN																	0				skin(1)	1						c.(199-201)CTC>CTG		zinc finger protein 71							50.0	49.0	49.0					19																	57132856		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57132856C>G	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.201C>G	19.37:g.57132856C>G							p.L67L	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	439	+			67					Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.201C>G	CCDS12947.1																																																																																				0.607	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2		NM_021216		9	73	0	0	0	0.006214	0	9	73		
AURKC	6795	broad.mit.edu	37	19	57743573	57743573	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:57743573G>C	ENST00000302804.7	+	3	463	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	AURKC_ENST00000598785.1_Missense_Mutation_p.E59Q|AURKC_ENST00000415300.2_Missense_Mutation_p.E74Q|AURKC_ENST00000448930.1_Missense_Mutation_p.E59Q|AURKC_ENST00000599062.1_Missense_Mutation_p.E90Q	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	93	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CCGGGAAATTGAGATCCAGGC	0.507																																						uc002qoe.2		NaN																	0				lung(4)|ovary(2)	6						c.(277-279)GAG>CAG		aurora kinase C isoform 1							51.0	44.0	47.0					19																	57743573		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57743573G>C		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.277G>C	19.37:g.57743573G>C	ENSP00000302898:p.Glu93Gln					AURKC_uc002qoc.2_Missense_Mutation_p.E74Q|AURKC_uc002qod.2_Missense_Mutation_p.E59Q|AURKC_uc010etv.2_Missense_Mutation_p.E90Q	p.E93Q	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	3	466	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	93			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.277G>C	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394481	0.62066	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.64991	-0.13;-0.13;-0.13	3.45	3.45	0.39498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	L	0.28608	0.87	0.58432	D	0.999997	P;D;P	0.56746	0.95;0.977;0.904	P;P;B	0.56865	0.56;0.808;0.441	T	0.68093	-0.5500	10	0.87932	D	0	-17.1131	13.2368	0.59974	0.0:0.0:1.0:0.0	.	90;93;74	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	Q	74;59;93	ENSP00000407162:E74Q;ENSP00000406798:E59Q;ENSP00000302898:E93Q	ENSP00000302898:E93Q	E	+	1	0	AURKC	62435385	1.000000	0.71417	0.997000	0.53966	0.755000	0.42902	8.093000	0.89531	2.225000	0.72522	0.555000	0.69702	GAG		0.507	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1		NM_003160		8	97	0	0	0	0.004482	0	8	97		
ZNF548	147694	broad.mit.edu	37	19	57911012	57911012	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:57911012G>C	ENST00000366197.5	+	3	1607	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q	AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.E465Q|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGAGTGCAGAGAGTGTGGGAA	0.463																																						uc002qom.2		NaN																	0				breast(1)	1						c.(1357-1359)GAG>CAG		zinc finger protein 548							64.0	69.0	67.0					19																	57911012		2189	4295	6484	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57911012G>C	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1357G>C	19.37:g.57911012G>C	ENSP00000379482:p.Glu453Gln					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.E456Q	p.E453Q	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1607	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	453			C2H2-type 10.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.1357G>C	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274826	0.40194	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.07444	3.19;3.19	2.26	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07143	0.0181	N	0.16903	0.455	0.09310	N	1	D;D	0.57571	0.975;0.98	B;P	0.47915	0.425;0.561	T	0.37337	-0.9710	9	0.44086	T	0.13	.	8.4214	0.32703	0.1313:0.0:0.8687:0.0	.	465;453	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	Q	465;453	ENSP00000337555:E465Q;ENSP00000379482:E453Q	ENSP00000337555:E465Q	E	+	1	0	ZNF548	62602824	0.000000	0.05858	0.013000	0.15412	0.931000	0.56810	-0.303000	0.08210	0.529000	0.28599	0.655000	0.94253	GAG		0.463	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1		NM_152909		13	113	0	0	0	0.013537	0	13	113		
ZSCAN4	201516	broad.mit.edu	37	19	58187526	58187526	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58187526C>A	ENST00000318203.5	+	3	710	c.13C>A	c.(13-15)Cta>Ata	p.L5I		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	5					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCTTTAGATCTAAGAACCAT	0.398																																						uc002qpu.2		NaN																	0				ovary(1)	1						c.(13-15)CTA>ATA		zinc finger and SCAN domain containing 4							45.0	44.0	44.0					19																	58187526		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58187526C>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.13C>A	19.37:g.58187526C>A	ENSP00000321963:p.Leu5Ile						p.L5I	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	710	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	5					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.13C>A	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	3.915	-0.019306	0.07634	.	.	ENSG00000180532	ENST00000318203	T	0.09817	2.94	4.14	0.733	0.18289	.	1.855590	0.03014	N	0.149828	T	0.07638	0.0192	N	0.19112	0.55	0.09310	N	1	B	0.21452	0.056	B	0.18871	0.023	T	0.32745	-0.9895	10	0.27082	T	0.32	-0.4183	4.9891	0.14205	0.3709:0.5291:0.0:0.1001	.	5	Q8NAM6	ZSCA4_HUMAN	I	5	ENSP00000321963:L5I	ENSP00000321963:L5I	L	+	1	2	ZSCAN4	62879338	0.003000	0.15002	0.001000	0.08648	0.011000	0.07611	0.191000	0.17076	0.267000	0.21916	-0.157000	0.13467	CTA		0.398	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1		NM_152677		19	116	1	0	2.94398e-08	0.007413	3.04067e-08	19	116		
ZNF417	147687	broad.mit.edu	37	19	58421054	58421054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58421054C>T	ENST00000312026.5	-	3	756	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	ZNF417_ENST00000595559.1_Missense_Mutation_p.E197K|ZNF417_ENST00000536263.1_5'UTR|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TGCATAGTTTCACTGTCTGTC	0.488																																						uc002qqq.2		NaN																	0					0						c.(592-594)GAA>AAA		zinc finger protein 417							88.0	94.0	92.0					19																	58421054		1999	4142	6141	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58421054C>T	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.592G>A	19.37:g.58421054C>T	ENSP00000311319:p.Glu198Lys					ZNF417_uc010yhm.1_Missense_Mutation_p.E155K|ZNF417_uc002qqr.2_Missense_Mutation_p.E197K	p.E198K	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	791	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	198					B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.592G>A	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	3.409	-0.120594	0.06838	.	.	ENSG00000173480	ENST00000312026	T	0.05580	3.42	1.54	-3.08	0.05347	.	.	.	.	.	T	0.02380	0.0073	N	0.11927	0.2	0.09310	N	0.999997	B;B	0.21381	0.055;0.001	B;B	0.12156	0.007;0.001	T	0.44742	-0.9308	9	0.05525	T	0.97	.	4.79	0.13243	0.0:0.5074:0.175:0.3177	.	198;198	F5H0M9;Q8TAU3	.;ZN417_HUMAN	K	198	ENSP00000311319:E198K	ENSP00000311319:E198K	E	-	1	0	ZNF417	63112866	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.679000	0.05203	-1.218000	0.02601	0.298000	0.19748	GAA		0.488	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1		NM_152475		37	69	0	0	0	0.011902	0	37	69		
ZNF256	10172	broad.mit.edu	37	19	58452322	58452322	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58452322G>A	ENST00000282308.3	-	3	2050	c.1854C>T	c.(1852-1854)ctC>ctT	p.L618L	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	618					multicellular organismal development (GO:0007275)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GATGTTTTAGGAGGTTGGAGT	0.428																																					NSCLC(55;1313 1552 8040 11996)	uc002qqu.2		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1852-1854)CTC>CTT		zinc finger protein 256							104.0	95.0	98.0					19																	58452322		2203	4300	6503	SO:0001819	synonymous_variant	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58452322G>A	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1854C>T	19.37:g.58452322G>A						ZNF256_uc010euj.2_Silent_p.L465L	p.L618L	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	2089	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	618			C2H2-type 15.		B2RA92|Q53Y85|Q9BV71	Silent	SNP	ENST00000282308.3	37	c.1854C>T	CCDS12966.1																																																																																				0.428	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1				21	74	0	0	0	0.014323	0	21	74		
ZNF256	10172	broad.mit.edu	37	19	58453721	58453721	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58453721C>G	ENST00000282308.3	-	3	651	c.455G>C	c.(454-456)aGa>aCa	p.R152T	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	152					multicellular organismal development (GO:0007275)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAACATGTCTCTGCCCCCATT	0.458																																					NSCLC(55;1313 1552 8040 11996)	uc002qqu.2		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(454-456)AGA>ACA		zinc finger protein 256							209.0	187.0	194.0					19																	58453721		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58453721C>G	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.455G>C	19.37:g.58453721C>G	ENSP00000282308:p.Arg152Thr					ZNF256_uc010euj.2_5'UTR	p.R152T	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	690	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	152					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.455G>C	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	12.61	1.990087	0.35131	.	.	ENSG00000152454	ENST00000282308	T	0.07216	3.21	2.85	1.8	0.24995	.	.	.	.	.	T	0.10637	0.0260	L	0.31420	0.93	0.09310	N	1	D	0.62365	0.991	P	0.55011	0.766	T	0.20840	-1.0263	9	0.66056	D	0.02	.	4.5185	0.11947	0.0:0.6828:0.0:0.3172	.	152	Q9Y2P7	ZN256_HUMAN	T	152	ENSP00000282308:R152T	ENSP00000282308:R152T	R	-	2	0	ZNF256	63145533	.	.	0.002000	0.10522	0.391000	0.30476	.	.	0.743000	0.32719	0.460000	0.39030	AGA		0.458	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1				34	100	0	0	0	0.013726	0	34	100		
ZNF544	27300	broad.mit.edu	37	19	58773587	58773587	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58773587C>G	ENST00000596652.1	+	6	1849	c.1615C>G	c.(1615-1617)Cag>Gag	p.Q539E	CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q511E|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q511E|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q511E|ZNF544_ENST00000599953.1_Missense_Mutation_p.Q397E|ZNF544_ENST00000269829.4_Missense_Mutation_p.Q539E			Q6NX49	ZN544_HUMAN	zinc finger protein 544	539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TATTACGCATCAGCGAATTCA	0.443																																						uc010euo.2		NaN																	0				pancreas(1)	1						c.(1615-1617)CAG>GAG		zinc finger protein 544							90.0	92.0	91.0					19																	58773587		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773587C>G	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1615C>G	19.37:g.58773587C>G	ENSP00000469635:p.Gln539Glu					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.Q511E|ZNF544_uc010yhy.1_Missense_Mutation_p.Q511E|ZNF544_uc002qrt.3_Missense_Mutation_p.Q397E|ZNF544_uc002qru.3_Missense_Mutation_p.Q397E|uc002qrx.1_Intron	p.Q539E	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	2089	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	539			C2H2-type 7.		A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1615C>G	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	9.488	1.100028	0.20552	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.17854	2.25;2.25	3.12	0.851	0.18989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10337	0.0253	N	0.17922	0.545	0.23095	N	0.998307	B;P;P	0.49783	0.344;0.85;0.928	B;B;P	0.44990	0.089;0.299;0.466	T	0.15206	-1.0445	9	0.45353	T	0.12	.	1.6878	0.02845	0.3582:0.3519:0.1758:0.1142	.	511;511;539	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	E	539;511	ENSP00000269829:Q539E;ENSP00000394341:Q511E	ENSP00000269829:Q539E	Q	+	1	0	ZNF544	63465399	0.000000	0.05858	0.002000	0.10522	0.062000	0.15995	-0.151000	0.10175	0.169000	0.19679	0.514000	0.50259	CAG		0.443	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1		NM_014480		57	52	0	0	0	0.01441	0	57	52		
MYT1L	23040	broad.mit.edu	37	2	1893096	1893096	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:1893096C>T	ENST00000399161.2	-	16	3184	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E811K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	813					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CAGTCGCCCTCGCCCAGCTGG	0.587																																						uc002qxe.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(2437-2439)GAG>AAG		myelin transcription factor 1-like							74.0	80.0	78.0					2																	1893096		2042	4155	6197	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1893096C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2437G>A	2.37:g.1893096C>T	ENSP00000382114:p.Glu813Lys					MYT1L_uc002qxd.2_Missense_Mutation_p.E811K|MYT1L_uc010ewl.1_RNA	p.E813K	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	16	3264	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	813					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2437G>A		.	.	.	.	.	.	.	.	.	.	c	26.0	4.695484	0.88830	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.46063	0.88;0.88	4.77	4.77	0.60923	Myelin transcription factor 1 (1);	0.101179	0.64402	D	0.000002	T	0.39253	0.1071	L	0.41236	1.265	0.49389	D	0.999785	D;D	0.60575	0.988;0.981	P;B	0.44990	0.466;0.356	T	0.14309	-1.0477	10	0.23302	T	0.38	-35.6637	17.7539	0.88444	0.0:1.0:0.0:0.0	.	813;811	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	K	813;759;811	ENSP00000382114:E813K;ENSP00000396103:E811K	ENSP00000295067:E759K	E	-	1	0	MYT1L	1872103	0.997000	0.39634	0.998000	0.56505	0.985000	0.73830	4.579000	0.60936	2.365000	0.80145	0.586000	0.80456	GAG		0.587	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025		23	92	0	0	0	0.00278	0	23	92		
ASAP2	8853	broad.mit.edu	37	2	9540887	9540887	+	Silent	SNP	G	G	A	rs377706530		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:9540887G>A	ENST00000281419.3	+	26	3091	c.2751G>A	c.(2749-2751)acG>acA	p.T917T	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.T872T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	917	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCTCTGCAACGGAAGCTCTGG	0.532																																						uc002qzh.2		NaN																	0					0						c.(2749-2751)ACG>ACA		ArfGAP with SH3 domain, ankyrin repeat and PH							134.0	120.0	124.0					2																	9540887		2201	4297	6498	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9540887G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2751G>A	2.37:g.9540887G>A						ASAP2_uc002qzi.2_Silent_p.T872T	p.T917T	NM_003887	NP_003878	O43150	ASAP2_HUMAN			26	3091	+			917			Pro-rich.		D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.2751G>A	CCDS1661.1																																																																																				0.532	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1		NM_003887		11	62	0	0	0	0.010729	0	11	62		
ITGB1BP1	9270	broad.mit.edu	37	2	9552439	9552439	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:9552439C>G	ENST00000360635.3	-	5	1143	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.E83Q|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.E83Q|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.E83Q|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.E83Q|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.E83Q			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	83	PID.				activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		AATGGCCCTTCAAGGCCTTTT	0.403																																						uc002qzj.2		NaN																	0					0						c.(247-249)GAA>CAA		integrin cytoplasmic domain-associated protein 1							70.0	70.0	70.0					2																	9552439		2203	4300	6503	SO:0001583	missense	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding	g.chr2:9552439C>G	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.247G>C	2.37:g.9552439C>G	ENSP00000353850:p.Glu83Gln					ITGB1BP1_uc002qzk.2_Missense_Mutation_p.E83Q|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Missense_Mutation_p.E39Q|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.E83Q	p.E83Q	NM_004763	NP_004754	O14713	ITBP1_HUMAN		Epithelial(75;0.23)	4	424	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		83			PID.		D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	ENST00000360635.3	37	c.247G>C	CCDS1662.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443267	0.25987	.	.	ENSG00000119185	ENST00000360635;ENST00000238091;ENST00000355346;ENST00000359712;ENST00000488451;ENST00000456913;ENST00000492079;ENST00000494563;ENST00000467606;ENST00000484735;ENST00000460001	.	.	.	5.76	5.76	0.90799	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.045054	0.85682	D	0.000000	T	0.28333	0.0700	N	0.01576	-0.805	0.47511	D	0.999444	B;B;B;B	0.16802	0.014;0.009;0.004;0.019	B;B;B;B	0.19666	0.016;0.008;0.003;0.026	T	0.16276	-1.0408	9	0.33141	T	0.24	-44.6605	15.7716	0.78173	0.0:0.8644:0.1356:0.0	.	39;83;83;83	B4DQY5;A8MPU2;O14713-2;O14713	.;.;.;ITBP1_HUMAN	Q	83	.	ENSP00000238091:E83Q	E	-	1	0	ITGB1BP1	9469890	1.000000	0.71417	0.971000	0.41717	0.361000	0.29550	4.907000	0.63300	2.879000	0.98667	0.650000	0.86243	GAA		0.403	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2		NM_004763, NM_022334		25	124	0	0	0	0.00278	0	25	124		
ADAM17	6868	broad.mit.edu	37	2	9695720	9695720	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:9695720G>A	ENST00000310823.3	-	1	197	c.15C>T	c.(13-15)ctC>ctT	p.L5L	RP11-214N9.1_ENST00000607241.1_lincRNA|ADAM17_ENST00000497134.1_Silent_p.L5L	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	5					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TCAGGAATAGGAGAGACTGCC	0.647											OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002qzu.2		NaN																	0				lung(1)|kidney(1)	2						c.(13-15)CTC>CTT		a disintegrin and metalloprotease domain 17							42.0	44.0	44.0					2																	9695720		2201	4298	6499	SO:0001819	synonymous_variant	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9695720G>A	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.15C>T	2.37:g.9695720G>A			OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	658	ADAM17_uc010ewy.2_Silent_p.L5L|ADAM17_uc010ewz.2_Silent_p.L5L|ADAM17_uc010exb.1_Silent_p.L5L|ADAM17_uc002qzv.2_Silent_p.L5L	p.L5L	NM_003183	NP_003174	P78536	ADA17_HUMAN		Epithelial(75;0.225)	1	198	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		5					O60226	Silent	SNP	ENST00000310823.3	37	c.15C>T	CCDS1665.1																																																																																				0.647	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1				3	10	0	0	0	0.009096	0	3	10		
GRHL1	29841	broad.mit.edu	37	2	10101494	10101494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:10101494C>T	ENST00000324907.9	+	4	734	c.598C>T	c.(598-600)Caa>Taa	p.Q200*	GRHL1_ENST00000324883.5_Silent_p.L36L|GRHL1_ENST00000405379.2_Nonsense_Mutation_p.Q200*	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	200					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CTCTGGTGCTCAAGCCCCAAA	0.522																																						uc002raa.2		NaN																	0				pancreas(1)|skin(1)	2						c.(598-600)CAA>TAA		grainyhead-like 1							117.0	114.0	115.0					2																	10101494		2203	4300	6503	SO:0001587	stop_gained	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10101494C>T	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.598C>T	2.37:g.10101494C>T	ENSP00000324693:p.Gln200*					GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Silent_p.L36L|GRHL1_uc010yjb.1_Nonsense_Mutation_p.Q49*	p.Q200*	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	4	769	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		200					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Nonsense_Mutation	SNP	ENST00000324907.9	37	c.598C>T	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	C	36	5.904040	0.97087	.	.	ENSG00000134317	ENST00000405379;ENST00000324907	.	.	.	5.5	5.5	0.81552	.	0.225652	0.49305	D	0.000144	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.3932	0.94594	0.0:1.0:0.0:0.0	.	.	.	.	X	200	.	ENSP00000324693:Q200X	Q	+	1	0	GRHL1	10018945	1.000000	0.71417	0.410000	0.26471	0.979000	0.70002	7.215000	0.77966	2.594000	0.87642	0.563000	0.77884	CAA		0.522	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2		NM_014552		40	143	0	0	0	0.009718	0	40	143		
KLF11	8462	broad.mit.edu	37	2	10187963	10187963	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:10187963C>T	ENST00000305883.1	+	3	661	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	KLF11_ENST00000540845.1_Missense_Mutation_p.P150S|KLF11_ENST00000535335.1_Missense_Mutation_p.P150S	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	167					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GCCCAGCTCTCCCTGCAGGGC	0.637																																					Melanoma(56;431 1507 23687 50789)	uc002raf.1		NaN																	0				ovary(2)	2						c.(499-501)CCC>TCC		Kruppel-like factor 11							62.0	64.0	63.0					2																	10187963		2203	4300	6503	SO:0001583	missense	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10187963C>T	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.499C>T	2.37:g.10187963C>T	ENSP00000307023:p.Pro167Ser					KLF11_uc010yjc.1_Missense_Mutation_p.P150S	p.P167S	NM_003597	NP_003588	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	3	661	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		167					B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	c.499C>T	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793358	0.31685	.	.	ENSG00000172059	ENST00000305883;ENST00000448523;ENST00000540845;ENST00000535335	T;T;T;T	0.66815	2.38;-0.23;2.37;2.37	4.19	0.206	0.15208	.	0.406531	0.29692	N	0.011458	T	0.42854	0.1221	N	0.21373	0.66	0.40147	D	0.976901	B	0.18461	0.028	B	0.12837	0.008	T	0.06917	-1.0800	9	.	.	.	.	4.761	0.13108	0.1499:0.5906:0.0:0.2595	.	167	O14901	KLF11_HUMAN	S	167;150;150;150	ENSP00000307023:P167S;ENSP00000387866:P150S;ENSP00000444690:P150S;ENSP00000442722:P150S	.	P	+	1	0	KLF11	10105414	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.014000	0.13333	-0.170000	0.10816	0.407000	0.27541	CCC		0.637	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3		NM_003597		23	79	0	0	0	0.014323	0	23	79		
HPCAL1	3241	broad.mit.edu	37	2	10559935	10559935	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:10559935G>A	ENST00000381765.3	+	4	578	c.52G>A	c.(52-54)Gag>Aag	p.E18K	HPCAL1_ENST00000307845.3_Missense_Mutation_p.E18K	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	18					signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GGACCTGCGGGAGAACACGGA	0.647																																					Pancreas(70;1384 1800 31595 46836)	uc002raj.2		NaN																	0				pancreas(1)	1						c.(52-54)GAG>AAG		hippocalcin-like 1							59.0	55.0	57.0					2																	10559935		2203	4300	6503	SO:0001583	missense	3241						calcium ion binding	g.chr2:10559935G>A		CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.52G>A	2.37:g.10559935G>A	ENSP00000371184:p.Glu18Lys					HPCAL1_uc002rak.2_Missense_Mutation_p.E18K|HPCAL1_uc002ral.2_Missense_Mutation_p.E18K|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.E18K	p.E18K	NM_002149	NP_002140	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	3	426	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		18					Q969S5	Missense_Mutation	SNP	ENST00000381765.3	37	c.52G>A	CCDS1671.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723174	0.68959	.	.	ENSG00000115756	ENST00000423674;ENST00000307845;ENST00000381765	T;T;T	0.65732	-0.17;1.86;1.86	5.28	4.39	0.52855	EF-hand-like domain (1);	0.046997	0.85682	D	0.000000	T	0.40094	0.1103	N	0.12637	0.245	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.29212	-1.0019	10	0.06099	T	0.92	.	14.3134	0.66432	0.0726:0.0:0.9274:0.0	.	18	P37235	HPCL1_HUMAN	K	18	ENSP00000413689:E18K;ENSP00000310749:E18K;ENSP00000371184:E18K	ENSP00000310749:E18K	E	+	1	0	HPCAL1	10477386	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.943000	0.87716	1.190000	0.43042	0.561000	0.74099	GAG		0.647	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1		NM_002149		31	10	0	0	0	0.013726	0	31	10		
LPIN1	23175	broad.mit.edu	37	2	11964910	11964910	+	Missense_Mutation	SNP	C	C	T	rs374190632		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:11964910C>T	ENST00000256720.2	+	20	2759	c.2666C>T	c.(2665-2667)tCa>tTa	p.S889L	LPIN1_ENST00000396099.1_Missense_Mutation_p.S931L|LPIN1_ENST00000449576.2_Missense_Mutation_p.S974L|LPIN1_ENST00000396097.1_Missense_Mutation_p.S619L|LPIN1_ENST00000425416.2_Missense_Mutation_p.S895L|LPIN1_ENST00000404113.2_Missense_Mutation_p.S390L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	889					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CATTCTGCCTCAGCGTAAAAT	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19088	0.0		0.0	False		,,,				2504	0.0					uc010yjn.1		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2665-2667)TCA>TTA		lipin 1		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	86.0	88.0	87.0		2666	5.9	0.4	2		87	0,8600		0,0,4300	no	missense	LPIN1	NM_145693.1	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	889/891	11964910	1,13005	2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11964910C>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2666C>T	2.37:g.11964910C>T	ENSP00000256720:p.Ser889Leu					LPIN1_uc010yjm.1_Missense_Mutation_p.S974L|LPIN1_uc002rbt.2_Missense_Mutation_p.S889L|LPIN1_uc010yjo.1_Missense_Mutation_p.S390L	p.S889L	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	21	2940	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		889					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.2666C>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561920	0.45590	2.27E-4	0.0	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	D;D;D;D;T;T	0.82081	-1.57;-1.52;-1.51;-1.5;-1.34;-0.54	5.95	5.95	0.96441	.	0.153499	0.46442	D	0.000299	D	0.84561	0.5499	L	0.29908	0.895	0.18873	N	0.999985	B;D;D	0.67145	0.005;0.996;0.993	B;D;D	0.77557	0.005;0.99;0.977	T	0.77245	-0.2659	10	0.87932	D	0	-13.8395	9.4484	0.38712	0.1438:0.7853:0.0:0.071	.	390;974;889	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	L	974;931;895;889;619;390	ENSP00000397908:S974L;ENSP00000379406:S931L;ENSP00000401522:S895L;ENSP00000256720:S889L;ENSP00000379404:S619L;ENSP00000386120:S390L	ENSP00000256720:S889L	S	+	2	0	LPIN1	11882361	0.719000	0.27986	0.450000	0.26969	0.027000	0.11550	2.563000	0.45922	2.824000	0.97209	0.655000	0.94253	TCA		0.517	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3		NM_145693		63	34	0	0	0	0.01441	0	63	34		
NBAS	51594	broad.mit.edu	37	2	15415689	15415689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:15415689C>T	ENST00000281513.5	-	44	5668	c.5643G>A	c.(5641-5643)atG>atA	p.M1881I	NBAS_ENST00000441750.1_Missense_Mutation_p.M1761I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1881					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAAAGTACTTCATGCAGACAT	0.448																																						uc002rcc.1		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.(5641-5643)ATG>ATA		neuroblastoma-amplified protein							96.0	90.0	92.0					2																	15415689		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15415689C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5643G>A	2.37:g.15415689C>T	ENSP00000281513:p.Met1881Ile					NBAS_uc010exl.1_Missense_Mutation_p.M953I|NBAS_uc002rcd.1_RNA	p.M1881I	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			44	5669	-			1881					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5643G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	8.696	0.908655	0.17833	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.09163	3.01;3.18	5.57	-3.89	0.04193	.	0.978987	0.08455	N	0.943310	T	0.04998	0.0134	N	0.03608	-0.345	0.09310	N	1	B;B	0.16396	0.017;0.001	B;B	0.15484	0.013;0.001	T	0.43261	-0.9402	10	0.87932	D	0	.	11.7325	0.51746	0.0:0.1196:0.6213:0.2591	.	1761;1881	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	I	1761;1881	ENSP00000413201:M1761I;ENSP00000281513:M1881I	ENSP00000281513:M1881I	M	-	3	0	NBAS	15333140	0.000000	0.05858	0.016000	0.15963	0.962000	0.63368	-0.782000	0.04643	-0.388000	0.07797	-0.226000	0.12346	ATG		0.448	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1		NM_015909		65	25	0	0	0	0.01441	0	65	25		
APOB	338	broad.mit.edu	37	2	21233209	21233209	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:21233209A>G	ENST00000233242.1	-	26	6658	c.6531T>C	c.(6529-6531)taT>taC	p.Y2177Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2177	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGTATCATATATGTCTGCA	0.234																																						uc002red.2		NaN																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6529-6531)TAT>TAC		apolipoprotein B precursor	Atorvastatin(DB01076)						43.0	43.0	43.0					2																	21233209		2199	4294	6493	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233209A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6531T>C	2.37:g.21233209A>G							p.Y2177Y	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6659	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2177			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.6531T>C	CCDS1703.1																																																																																				0.234	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				50	31	0	0	0	0.01441	0	50	31		
APOB	338	broad.mit.edu	37	2	21233218	21233218	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:21233218C>T	ENST00000233242.1	-	26	6649	c.6522G>A	c.(6520-6522)ctG>ctA	p.L2174L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2174	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATATGTCTGCAGTTGAGATA	0.254																																						uc002red.2		NaN																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6520-6522)CTG>CTA		apolipoprotein B precursor	Atorvastatin(DB01076)						46.0	46.0	46.0					2																	21233218		2198	4298	6496	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233218C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6522G>A	2.37:g.21233218C>T							p.L2174L	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6650	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2174			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.6522G>A	CCDS1703.1																																																																																				0.254	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				45	31	0	0	0	0.01441	0	45	31		
MFSD2B	388931	broad.mit.edu	37	2	24236211	24236211	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:24236211G>A	ENST00000406420.3	+	2	169	c.153G>A	c.(151-153)ggG>ggA	p.G51G	MFSD2B_ENST00000338315.4_Silent_p.G51G	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	51					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCATTGGTGGGGTCCCCAACC	0.547																																						uc002reo.1		NaN																	0				ovary(2)	2						c.(151-153)GGG>GGA		major facilitator superfamily domain containing							63.0	63.0	63.0					2																	24236211		1968	4154	6122	SO:0001819	synonymous_variant	388931				transport	integral to membrane		g.chr2:24236211G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.153G>A	2.37:g.24236211G>A						MFSD2B_uc010exz.1_RNA	p.G51G	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN			2	167	+			51					B5MC32	Silent	SNP	ENST00000406420.3	37	c.153G>A	CCDS46228.1																																																																																				0.547	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1		NM_001080473		5	19	0	0	0	0.000602	0	5	19		
FAM228A	653140	broad.mit.edu	37	2	24398440	24398440	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:24398440G>C	ENST00000295150.3	+	2	177	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	RP11-507M3.1_ENST00000584973.1_3'UTR|AC008073.7_ENST00000428344.1_RNA|AC008073.7_ENST00000438414.1_RNA	NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	31																	TTCTTTAATGGAGGTGAGATA	0.483																																						uc002rfc.2		NaN																	0					0						c.(91-93)GAG>CAG		hypothetical protein LOC653140							64.0	63.0	63.0					2																	24398440		1888	4108	5996	SO:0001583	missense	653140							g.chr2:24398440G>C		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.91G>C	2.37:g.24398440G>C	ENSP00000295150:p.Glu31Gln					C2orf84_uc010eyc.2_RNA	p.E31Q	NM_001040710	NP_001035800	Q86W67	CB084_HUMAN			2	177	+			31						Missense_Mutation	SNP	ENST00000295150.3	37	c.91G>C	CCDS42659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.664749|2.664749	0.47572|0.47572	.|.	.|.	ENSG00000186453|ENSG00000186453	ENST00000295150|ENST00000432434	T|.	0.52526|.	0.66|.	3.76|3.76	2.87|2.87	0.33458|0.33458	.|.	0.091247|.	0.42294|.	D|.	0.000736|.	T|T	0.46151|0.46151	0.1378|0.1378	L|L	0.49778|0.49778	1.585|1.585	0.31438|0.31438	N|N	0.672261|0.672261	D|.	0.67145|.	0.996|.	D|.	0.66847|.	0.947|.	T|T	0.51236|0.51236	-0.8731|-0.8731	10|5	0.54805|.	T|.	0.06|.	-12.4337|-12.4337	7.6808|7.6808	0.28513|0.28513	0.1175:0.0:0.8825:0.0|0.1175:0.0:0.8825:0.0	.|.	31|.	Q86W67|.	CB084_HUMAN|.	Q|C	31|29	ENSP00000295150:E31Q|.	ENSP00000295150:E31Q|.	E|W	+|+	1|3	0|0	C2orf84|C2orf84	24251944|24251944	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.503000|0.503000	0.33858|0.33858	2.348000|2.348000	0.44045|0.44045	1.139000|1.139000	0.42245|0.42245	0.563000|0.563000	0.77884|0.77884	GAG|TGG		0.483	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1		NM_001040710		32	30	0	0	0	0.009535	0	32	30		
ADCY3	109	broad.mit.edu	37	2	25047259	25047259	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:25047259C>T	ENST00000260600.5	-	16	3575	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K	ADCY3_ENST00000405392.1_Silent_p.K495K|RP11-443B20.1_ENST00000606114.1_RNA	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	908					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATCTCTCTTCTTGGACCCCA	0.582																																						uc002rfs.3		NaN																	0				breast(3)|ovary(1)	4						c.(2722-2724)AAG>AAA		adenylate cyclase 3							121.0	100.0	107.0					2																	25047259		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25047259C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2724G>A	2.37:g.25047259C>T						ADCY3_uc002rfr.3_Silent_p.K495K|ADCY3_uc010ykm.1_Silent_p.K909K	p.K908K	NM_004036	NP_004027	O60266	ADCY3_HUMAN			16	2923	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		908			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.2724G>A	CCDS1715.1																																																																																				0.582	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2				40	27	0	0	0	0.006999	0	40	27		
DTNB	1838	broad.mit.edu	37	2	25705718	25705718	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:25705718C>T	ENST00000406818.3	-	10	1275	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	DTNB_ENST00000407661.3_Missense_Mutation_p.M342I|DTNB_ENST00000496972.2_Missense_Mutation_p.M285I|DTNB_ENST00000405222.1_Missense_Mutation_p.M342I|DTNB_ENST00000545439.1_Missense_Mutation_p.M138I|DTNB_ENST00000407186.1_Missense_Mutation_p.M342I|DTNB_ENST00000407038.3_Missense_Mutation_p.M342I|DTNB_ENST00000404103.3_Missense_Mutation_p.M342I|DTNB_ENST00000288642.8_Missense_Mutation_p.M342I	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	342						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTGTCATTCATATTAGTCA	0.468																																						uc002rgh.2		NaN																	0				large_intestine(2)|ovary(2)	4						c.(1024-1026)ATG>ATA		dystrobrevin, beta isoform 1							94.0	96.0	95.0					2																	25705718		2022	4158	6180	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25705718C>T	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1026G>A	2.37:g.25705718C>T	ENSP00000384084:p.Met342Ile					DTNB_uc002rgg.2_Missense_Mutation_p.M1I|DTNB_uc010yko.1_Missense_Mutation_p.M285I|DTNB_uc010ykp.1_Missense_Mutation_p.M138I|DTNB_uc002rgo.2_Missense_Mutation_p.M163I|DTNB_uc002rgi.2_Missense_Mutation_p.M342I|DTNB_uc002rgj.2_Missense_Mutation_p.M342I|DTNB_uc002rgk.2_Missense_Mutation_p.M342I|DTNB_uc002rgl.2_Missense_Mutation_p.M342I|DTNB_uc002rgq.2_Missense_Mutation_p.M342I|DTNB_uc002rgm.2_Missense_Mutation_p.M342I|DTNB_uc002rgn.2_Missense_Mutation_p.M138I|DTNB_uc002rgr.1_Missense_Mutation_p.M331I|DTNB_uc010ykq.1_Missense_Mutation_p.M195I	p.M342I	NM_021907	NP_068707	O60941	DTNB_HUMAN			10	1276	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		342					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.1026G>A	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361168	0.24684	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T;T;T;T	0.41065	2.33;2.33;2.32;2.33;2.32;2.32;2.32;2.32;1.01	5.13	5.13	0.70059	.	0.163396	0.64402	D	0.000001	T	0.36468	0.0968	L	0.53729	1.69	0.37702	D	0.924254	B;B;B;B;B;B;B;B;B;B;B;B	0.13594	0.001;0.008;0.003;0.004;0.001;0.002;0.0;0.0;0.001;0.003;0.001;0.001	B;B;B;B;B;B;B;B;B;B;B;B	0.17979	0.005;0.009;0.011;0.012;0.005;0.005;0.002;0.003;0.011;0.02;0.011;0.003	T	0.27673	-1.0067	10	0.07990	T	0.79	-9.4958	14.4411	0.67318	0.0:1.0:0.0:0.0	.	342;138;285;342;342;285;342;342;342;342;342;342	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN	I	285;342;342;342;342;342;342;342;138;195	ENSP00000444463:M285I;ENSP00000384084:M342I;ENSP00000385482:M342I;ENSP00000385193:M342I;ENSP00000384767:M342I;ENSP00000384787:M342I;ENSP00000385784:M342I;ENSP00000288642:M342I;ENSP00000444961:M138I	ENSP00000288642:M342I	M	-	3	0	DTNB	25559222	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.636000	0.46545	2.544000	0.85801	0.650000	0.86243	ATG		0.468	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1		NM_033147		45	29	0	0	0	0.01441	0	45	29		
ASXL2	55252	broad.mit.edu	37	2	26029124	26029124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:26029124C>T	ENST00000435504.4	-	4	519	c.226G>A	c.(226-228)Ggt>Agt	p.G76S	ASXL2_ENST00000336112.4_Missense_Mutation_p.G48S|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	76					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCATTCTACCTGGAACCTTA	0.398																																						uc002rgs.2		NaN																	0				pancreas(1)	1						c.(226-228)GGT>AGT		additional sex combs like 2							56.0	52.0	53.0					2																	26029124		1851	4095	5946	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26029124C>T			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.226G>A	2.37:g.26029124C>T	ENSP00000391447:p.Gly76Ser						p.G76S	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			3	447	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		76					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.226G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.635198	0.96682	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.74842	-0.88;-0.78	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.85927	0.5811	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86980	0.2103	10	0.87932	D	0	-16.1546	18.098	0.89497	0.0:1.0:0.0:0.0	.	76	Q76L83	ASXL2_HUMAN	S	76;48	ENSP00000391447:G76S;ENSP00000337250:G48S	ENSP00000337250:G48S	G	-	1	0	ASXL2	25882628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.342000	0.79310	2.687000	0.91594	0.563000	0.77884	GGT		0.398	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263		5	36	0	0	0	0.000602	0	5	36		
OTOF	9381	broad.mit.edu	37	2	26726693	26726693	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:26726693G>A	ENST00000272371.2	-	6	656	c.530C>T	c.(529-531)tCc>tTc	p.S177F	OTOF_ENST00000403946.3_Missense_Mutation_p.S177F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	177					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCATGGCGGAGAACACGCT	0.632																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(529-531)TCC>TTC		otoferlin isoform a							77.0	71.0	73.0					2																	26726693		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26726693G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.530C>T	2.37:g.26726693G>A	ENSP00000272371:p.Ser177Phe					OTOF_uc010ylb.1_RNA	p.S177F	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			6	657	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		177			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.530C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290922	0.80914	.	.	ENSG00000115155	ENST00000272371;ENST00000403946;ENST00000380499	T;T	0.80909	-1.43;-1.43	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.88678	0.3200	10	0.66056	D	0.02	-27.8574	17.9791	0.89136	0.0:0.0:1.0:0.0	.	177	Q9HC10	OTOF_HUMAN	F	177;177;61	ENSP00000272371:S177F;ENSP00000385255:S177F	ENSP00000272371:S177F	S	-	2	0	OTOF	26580197	1.000000	0.71417	0.966000	0.40874	0.995000	0.86356	8.855000	0.92236	2.595000	0.87683	0.561000	0.74099	TCC		0.632	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3				16	77	0	0	0	0.003163	0	16	77		
TMEM214	54867	broad.mit.edu	37	2	27258840	27258840	+	Missense_Mutation	SNP	G	G	A	rs367766864		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27258840G>A	ENST00000238788.9	+	5	702	c.640G>A	c.(640-642)Gag>Aag	p.E214K	TMEM214_ENST00000404032.3_Missense_Mutation_p.E169K	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	214					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTCTCCAGGGGAGTCACTACA	0.527																																						uc002ria.3		NaN																	0					0						c.(640-642)GAG>AAG		transmembrane protein 214 isoform 1		G	LYS/GLU,LYS/GLU	0,4286		0,0,2143	101.0	104.0	103.0		505,640	4.8	1.0	2		103	1,8509		0,1,4254	no	missense,missense	TMEM214	NM_001083590.1,NM_017727.4	56,56	0,1,6397	AA,AG,GG		0.0118,0.0,0.0078	benign,benign	169/645,214/690	27258840	1,12795	2143	4255	6398	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27258840G>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.640G>A	2.37:g.27258840G>A	ENSP00000238788:p.Glu214Lys					TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.E169K	p.E214K	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN			5	750	+			214					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.640G>A	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033211	0.75504	0.0	1.18E-4	ENSG00000119777	ENST00000238788;ENST00000404032	T;D	0.85861	0.85;-2.04	5.67	4.8	0.61643	.	0.196730	0.46758	N	0.000270	D	0.86066	0.5844	L	0.29908	0.895	0.51012	D	0.999909	D;B	0.69078	0.997;0.22	D;B	0.65684	0.937;0.05	D	0.83682	0.0172	10	0.24483	T	0.36	-21.5111	13.9427	0.64066	0.0731:0.0:0.9269:0.0	.	169;214	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	K	214;169	ENSP00000238788:E214K;ENSP00000384417:E169K	ENSP00000238788:E214K	E	+	1	0	TMEM214	27112344	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.340000	0.97038	1.403000	0.46800	0.561000	0.74099	GAG		0.527	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1		NM_017727		12	81	0	0	0	0.00245	0	12	81		
SLC5A6	8884	broad.mit.edu	37	2	27427346	27427346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27427346G>C	ENST00000310574.3	-	9	1461	c.988C>G	c.(988-990)Cag>Gag	p.Q330E	SLC5A6_ENST00000408041.1_Missense_Mutation_p.Q330E|SLC5A6_ENST00000461319.1_5'Flank	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	330					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	GGGGCTGCCTGAGCCTGCTGA	0.587																																						uc002rjd.2		NaN																	0				ovary(2)	2						c.(988-990)CAG>GAG		solute carrier family 5 (sodium-dependent	Biotin(DB00121)|Lipoic Acid(DB00166)						79.0	80.0	80.0					2																	27427346		2203	4300	6503	SO:0001583	missense	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27427346G>C	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.988C>G	2.37:g.27427346G>C	ENSP00000310208:p.Gln330Glu					SLC5A6_uc010eyv.1_Missense_Mutation_p.Q330E	p.Q330E	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN			9	1379	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		330					B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	c.988C>G	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151309	0.38021	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.87491	-2.26;-2.26	5.17	4.28	0.50868	.	0.313006	0.29948	N	0.010796	T	0.81616	0.4860	L	0.47716	1.5	0.29031	N	0.885691	B	0.02656	0.0	B	0.12837	0.008	T	0.75923	-0.3146	10	0.87932	D	0	.	7.5231	0.27639	0.0889:0.1696:0.7415:0.0	.	330	Q9Y289	SC5A6_HUMAN	E	330	ENSP00000310208:Q330E;ENSP00000384853:Q330E	ENSP00000310208:Q330E	Q	-	1	0	SLC5A6	27280850	0.889000	0.30405	0.105000	0.21289	0.958000	0.62258	2.555000	0.45854	1.280000	0.44463	0.655000	0.94253	CAG		0.587	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1		NM_021095		14	73	0	0	0	0.00245	0	14	73		
SLC5A6	8884	broad.mit.edu	37	2	27430496	27430496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27430496G>T	ENST00000310574.3	-	3	496	c.23C>A	c.(22-24)tCa>tAa	p.S8*	SLC5A6_ENST00000408041.1_Nonsense_Mutation_p.S8*	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	8					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AAGAGGGGCTGAGGTGCTCAC	0.587																																						uc002rjd.2		NaN																	0				ovary(2)	2						c.(22-24)TCA>TAA		solute carrier family 5 (sodium-dependent	Biotin(DB00121)|Lipoic Acid(DB00166)						114.0	94.0	101.0					2																	27430496		2203	4300	6503	SO:0001587	stop_gained	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27430496G>T	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.23C>A	2.37:g.27430496G>T	ENSP00000310208:p.Ser8*					SLC5A6_uc010eyv.1_Nonsense_Mutation_p.S8*|SLC5A6_uc002rje.1_Nonsense_Mutation_p.S8*	p.S8*	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN			3	414	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		8					B2RB85|D6W549|Q969Y5	Nonsense_Mutation	SNP	ENST00000310574.3	37	c.23C>A	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878523	0.51801	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471;ENST00000401463;ENST00000432106;ENST00000426119;ENST00000414408;ENST00000428518;ENST00000430186;ENST00000442731	.	.	.	4.72	0.739	0.18324	.	1.124900	0.06776	N	0.784331	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3719	0.16144	0.1825:0.3151:0.5024:0.0	.	.	.	.	X	8	.	ENSP00000310208:S8X	S	-	2	0	SLC5A6	27284000	0.753000	0.28349	0.007000	0.13788	0.036000	0.12997	1.541000	0.36126	0.208000	0.20626	0.563000	0.77884	TCA		0.587	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1		NM_021095		10	57	1	0	1.58986e-06	0.008291	1.63198e-06	10	57		
CAD	790	broad.mit.edu	37	2	27463781	27463781	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27463781G>A	ENST00000403525.1	+	35	5551	c.5407G>A	c.(5407-5409)Gag>Aag	p.E1803K	CAD_ENST00000264705.4_Missense_Mutation_p.E1866K			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTGCAGCTGAGGAGCCAAA	0.502																																						uc002rji.2		NaN																	0				ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(5596-5598)GAG>AAG		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						77.0	82.0	81.0					2																	27463781		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27463781G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5407G>A	2.37:g.27463781G>A	ENSP00000384510:p.Glu1803Lys					CAD_uc010eyw.2_Missense_Mutation_p.E1803K	p.E1866K	NM_004341	NP_004332	P27708	PYR1_HUMAN			36	5758	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1866			Linker.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.5596G>A		.	.	.	.	.	.	.	.	.	.	G	15.46	2.839783	0.51057	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98221	-4.8;-4.75	4.6	4.6	0.57074	.	0.222746	0.37577	N	0.002031	D	0.97561	0.9201	L	0.43152	1.355	0.43808	D	0.996366	B;P	0.52842	0.119;0.956	B;P	0.62184	0.035;0.899	D	0.96173	0.9124	10	0.07990	T	0.79	-0.9853	14.974	0.71257	0.0:0.0:1.0:0.0	.	1803;1866	F8VPD4;P27708	.;PYR1_HUMAN	K	1866;1803	ENSP00000264705:E1866K;ENSP00000384510:E1803K	ENSP00000264705:E1866K	E	+	1	0	CAD	27317285	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.056000	0.71111	2.395000	0.81488	0.561000	0.74099	GAG		0.502	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1				27	22	0	0	0	0.003954	0	27	22		
PPM1G	5496	broad.mit.edu	37	2	27605009	27605009	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27605009G>A	ENST00000344034.4	-	9	1682	c.1418C>T	c.(1417-1419)tCa>tTa	p.S473L	ZNF513_ENST00000407879.1_5'Flank|ZNF513_ENST00000323703.6_5'Flank|PPM1G_ENST00000350803.4_Missense_Mutation_p.S473L	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	473					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACAATGGATGACAATAACCG	0.483																																						uc002rkl.2		NaN																	0				ovary(1)	1						c.(1417-1419)TCA>TTA		protein phosphatase 1G							127.0	113.0	118.0					2																	27605009		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27605009G>A	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1418C>T	2.37:g.27605009G>A	ENSP00000342778:p.Ser473Leu					ZNF513_uc002rkj.2_5'Flank|ZNF513_uc002rkk.2_5'Flank|PPM1G_uc002rkm.2_Missense_Mutation_p.S254L	p.S473L	NM_002707	NP_002698	O15355	PPM1G_HUMAN			10	1525	-	Acute lymphoblastic leukemia(172;0.155)		473						Missense_Mutation	SNP	ENST00000344034.4	37	c.1418C>T	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562073	0.86335	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.17213	2.29;2.29	5.75	5.75	0.90469	Protein phosphatase 2C-like (5);	0.000000	0.64402	D	0.000001	T	0.46092	0.1375	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.991;0.999	D;D	0.83275	0.915;0.996	T	0.42292	-0.9460	10	0.66056	D	0.02	-3.9566	16.6613	0.85241	0.0:0.0:1.0:0.0	.	274;473	Q59GB2;O15355	.;PPM1G_HUMAN	L	473;473;456;274	ENSP00000342778:S473L;ENSP00000264714:S473L	ENSP00000342778:S473L	S	-	2	0	PPM1G	27458513	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.539000	0.98076	2.714000	0.92807	0.561000	0.74099	TCA		0.483	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1		NM_002707		16	71	0	0	0	0.004007	0	16	71		
BRE	9577	broad.mit.edu	37	2	28152708	28152708	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:28152708A>G	ENST00000342045.2	+	4	279	c.138A>G	c.(136-138)tcA>tcG	p.S46S	BRE_ENST00000603461.1_3'UTR|BRE_ENST00000344773.2_Silent_p.S46S|BRE_ENST00000379624.1_Silent_p.S46S|BRE_ENST00000361704.2_Silent_p.S46S|BRE_ENST00000379632.2_Silent_p.S46S	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GCTGCACATCATTGACTCCTG	0.323																																						uc002rlr.2		NaN																	0				lung(1)|kidney(1)|skin(1)	3						c.(136-138)TCA>TCG		brain and reproductive organ-expressed (TNFRSF1A							85.0	81.0	83.0					2																	28152708		2203	4300	6503	SO:0001819	synonymous_variant	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28152708A>G	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.138A>G	2.37:g.28152708A>G						BRE_uc002rlp.1_Silent_p.S46S|BRE_uc002rlq.2_Silent_p.S46S|BRE_uc002rls.2_Silent_p.S46S|BRE_uc002rlt.2_Silent_p.S46S|BRE_uc002rlu.2_Silent_p.S46S|BRE_uc002rlv.2_5'UTR	p.S46S	NM_199194	NP_954664	Q9NXR7	BRE_HUMAN			4	456	+	Acute lymphoblastic leukemia(172;0.155)		46			UEV-like 1.			Silent	SNP	ENST00000342045.2	37	c.138A>G	CCDS1763.1																																																																																				0.323	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1				25	109	0	0	0	0.004656	0	25	109		
C2orf71	388939	broad.mit.edu	37	2	29295005	29295005	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:29295005G>C	ENST00000331664.5	-	1	2122	c.2123C>G	c.(2122-2124)tCa>tGa	p.S708*		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	708					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GACCTCTCCTGATGGGATGGC	0.507																																						uc002rmt.1		NaN																	0				skin(1)	1						c.(2122-2124)TCA>TGA		hypothetical protein LOC388939							106.0	102.0	103.0					2																	29295005		2058	4229	6287	SO:0001587	stop_gained	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295005G>C		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2123C>G	2.37:g.29295005G>C	ENSP00000332809:p.Ser708*						p.S708*	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	2123	-			708						Nonsense_Mutation	SNP	ENST00000331664.5	37	c.2123C>G	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133286	0.94517	.	.	ENSG00000179270	ENST00000331664	.	.	.	5.76	2.96	0.34315	.	0.908714	0.09483	N	0.796059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-0.4134	6.1731	0.20429	0.2147:0.1401:0.6452:0.0	.	.	.	.	X	708	.	ENSP00000332809:S708X	S	-	2	0	C2orf71	29148509	0.725000	0.28048	0.000000	0.03702	0.198000	0.23893	3.305000	0.51873	0.346000	0.23899	0.555000	0.69702	TCA		0.507	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3		NM_001029883		19	135	0	0	0	0.010504	0	19	135		
CLIP4	79745	broad.mit.edu	37	2	29354254	29354254	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:29354254T>C	ENST00000320081.5	+	3	519	c.264T>C	c.(262-264)atT>atC	p.I88I	CLIP4_ENST00000401617.2_5'UTR|CLIP4_ENST00000401605.1_Silent_p.I88I|CLIP4_ENST00000404424.1_Silent_p.I88I	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	88										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTGACATTATTGGAAATGAGG	0.338																																						uc002rmv.2		NaN																	0				ovary(1)	1						c.(262-264)ATT>ATC		CAP-GLY domain containing linker protein family,							100.0	101.0	100.0					2																	29354254		2203	4298	6501	SO:0001819	synonymous_variant	79745							g.chr2:29354254T>C	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.264T>C	2.37:g.29354254T>C						CLIP4_uc002rmu.2_Silent_p.I88I|CLIP4_uc010ezm.1_Silent_p.I88I|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Silent_p.I70I	p.I88I	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN			3	503	+	Acute lymphoblastic leukemia(172;0.155)		88			ANK 1.		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	37	c.264T>C	CCDS1770.1																																																																																				0.338	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2		NM_024692		6	189	0	0	0	0.001168	0	6	189		
XDH	7498	broad.mit.edu	37	2	31587029	31587029	+	Nonsense_Mutation	SNP	G	G	A	rs140982129		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:31587029G>A	ENST00000379416.3	-	24	2674	c.2626C>T	c.(2626-2628)Cag>Tag	p.Q876*		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	876					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTCACACTCTGAGAGAGATCC	0.572																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NaN																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(2626-2628)CAG>TAG		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						136.0	123.0	127.0					2																	31587029		2203	4300	6503	SO:0001587	stop_gained	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31587029G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2626C>T	2.37:g.31587029G>A	ENSP00000368727:p.Gln876*						p.Q876*	NM_000379	NP_000370	P47989	XDH_HUMAN			24	2705	-	Acute lymphoblastic leukemia(172;0.155)		876					Q16681|Q16712|Q4PJ16	Nonsense_Mutation	SNP	ENST00000379416.3	37	c.2626C>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	38	7.241263	0.98157	.	.	ENSG00000158125	ENST00000379416	.	.	.	6.06	-0.875	0.10628	.	0.619245	0.17529	N	0.170936	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	9.8568	0.41090	0.0594:0.4994:0.3384:0.1029	.	.	.	.	X	876	.	ENSP00000368727:Q876X	Q	-	1	0	XDH	31440533	0.006000	0.16342	0.059000	0.19551	0.926000	0.56050	0.085000	0.14912	0.104000	0.17725	0.655000	0.94253	CAG		0.572	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1		NM_000379		8	54	0	0	0	0.00308	0	8	54		
BIRC6	57448	broad.mit.edu	37	2	32640622	32640622	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:32640622G>A	ENST00000421745.2	+	10	2397	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	755					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGCCCTGTTGAATCCTTGAG	0.398																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(2263-2265)GAA>AAA		baculoviral IAP repeat-containing 6							50.0	50.0	50.0					2																	32640622		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32640622G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2263G>A	2.37:g.32640622G>A	ENSP00000393596:p.Glu755Lys						p.E755K	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			10	2397	+	Acute lymphoblastic leukemia(172;0.155)		755					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.2263G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626018	0.46840	.	.	ENSG00000115760	ENST00000421745	T	0.62788	-0.0	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	N	0.19112	0.55	0.58432	D	0.999991	B	0.29378	0.243	B	0.27380	0.079	T	0.40701	-0.9549	10	0.18710	T	0.47	.	19.6651	0.95890	0.0:0.0:1.0:0.0	.	755	Q9NR09	BIRC6_HUMAN	K	755	ENSP00000393596:E755K	ENSP00000393596:E755K	E	+	1	0	BIRC6	32494126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.230000	0.78097	2.722000	0.93159	0.650000	0.86243	GAA		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		14	79	0	0	0	0.00245	0	14	79		
BIRC6	57448	broad.mit.edu	37	2	32743450	32743450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:32743450C>T	ENST00000421745.2	+	56	11613	c.11479C>T	c.(11479-11481)Cag>Tag	p.Q3827*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3827					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATGTTTCTTCAGTCTCCATG	0.368																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(11479-11481)CAG>TAG		baculoviral IAP repeat-containing 6							110.0	105.0	106.0					2																	32743450		2203	4300	6503	SO:0001587	stop_gained	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32743450C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11479C>T	2.37:g.32743450C>T	ENSP00000393596:p.Gln3827*						p.Q3827*	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			56	11613	+	Acute lymphoblastic leukemia(172;0.155)		3827					Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	c.11479C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	53	21.589907	0.99941	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	.	.	.	X	3827	.	ENSP00000393596:Q3827X	Q	+	1	0	BIRC6	32596954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.776000	0.95493	0.655000	0.94253	CAG		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		15	79	0	0	0	0.003163	0	15	79		
BIRC6	57448	broad.mit.edu	37	2	32770731	32770731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:32770731C>T	ENST00000421745.2	+	63	12748	c.12614C>T	c.(12613-12615)tCa>tTa	p.S4205L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4205					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAATCTCCATCAGCCAATGTG	0.393																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(12613-12615)TCA>TTA		baculoviral IAP repeat-containing 6							257.0	242.0	247.0					2																	32770731		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32770731C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12614C>T	2.37:g.32770731C>T	ENSP00000393596:p.Ser4205Leu						p.S4205L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			63	12748	+	Acute lymphoblastic leukemia(172;0.155)		4205					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.12614C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720628	0.48728	.	.	ENSG00000115760	ENST00000421745	T	0.73152	-0.72	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	T	0.63593	0.2524	N	0.02916	-0.46	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.60934	-0.7164	10	0.02654	T	1	.	19.0814	0.93185	0.0:1.0:0.0:0.0	.	4205	Q9NR09	BIRC6_HUMAN	L	4205	ENSP00000393596:S4205L	ENSP00000393596:S4205L	S	+	2	0	BIRC6	32624235	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.815000	0.86186	2.487000	0.83934	0.586000	0.80456	TCA		0.393	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		56	288	0	0	0	0.01441	0	56	288		
GALM	130589	broad.mit.edu	37	2	38960689	38960689	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:38960689C>T	ENST00000272252.5	+	7	1263	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	GALM_ENST00000410063.1_Silent_p.F189F	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	337					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CCACCTGGTTCAAGTTTTCTG	0.527																																						uc002rqy.2		NaN																	0					0						c.(1009-1011)TTC>TTT		galactose mutarotase							184.0	170.0	175.0					2																	38960689		2203	4300	6503	SO:0001819	synonymous_variant	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38960689C>T		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.1011C>T	2.37:g.38960689C>T							p.F337F	NM_138801	NP_620156	Q96C23	GALM_HUMAN			7	1263	+		all_hematologic(82;0.248)	337					Q53RY1|Q8NIA2|V9HWA8	Silent	SNP	ENST00000272252.5	37	c.1011C>T	CCDS1797.1																																																																																				0.527	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2		NM_138801		88	104	0	0	0	0.01441	0	88	104		
SLC3A1	6519	broad.mit.edu	37	2	44539852	44539852	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:44539852G>A	ENST00000260649.6	+	8	1536	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	SLC3A1_ENST00000409380.1_Missense_Mutation_p.G209E|SLC3A1_ENST00000409294.1_Missense_Mutation_p.G107E|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G487E|SLC3A1_ENST00000409740.3_Missense_Mutation_p.G118E|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G487E|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G487E	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	487					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.G487E(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ATTGGAATGGGAAATATTGTA	0.353																																						uc002ruc.3		NaN																	1	Substitution - Missense(1)		skin(1)		0						c.(1459-1461)GGA>GAA		solute carrier family 3, member 1	L-Cystine(DB00138)						64.0	61.0	62.0					2																	44539852		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44539852G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1460G>A	2.37:g.44539852G>A	ENSP00000260649:p.Gly487Glu					SLC3A1_uc002rtz.2_Missense_Mutation_p.G487E|SLC3A1_uc002rua.2_Missense_Mutation_p.G487E|SLC3A1_uc002rub.2_Missense_Mutation_p.G487E|SLC3A1_uc002rud.3_Missense_Mutation_p.G209E|SLC3A1_uc002rue.3_Missense_Mutation_p.G107E	p.G487E	NM_000341	NP_000332	Q07837	SLC31_HUMAN			8	1538	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	487			Extracellular (Potential).		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.1460G>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	1.878	-0.458513	0.04508	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380;ENST00000409294;ENST00000409740	D;D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	5.82	1.62	0.23740	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.560439	0.19767	N	0.106535	D	0.90055	0.6894	N	0.13003	0.285	0.24692	N	0.993301	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.79342	-0.1843	10	0.02654	T	1	-2.1434	3.9214	0.09245	0.4302:0.1857:0.3841:0.0	.	487;487;487;487	Q07837;B8ZZK1;Q4J6B5;Q4J6B6	SLC31_HUMAN;.;.;.	E	487;487;423;487;487;487;209;107;118	ENSP00000260649:G487E;ENSP00000387308:G487E;ENSP00000386954:G487E;ENSP00000386620:G487E;ENSP00000386709:G209E;ENSP00000386852:G107E;ENSP00000386677:G118E	ENSP00000260649:G487E	G	+	2	0	SLC3A1	44393356	1.000000	0.71417	0.455000	0.27031	0.890000	0.51754	1.618000	0.36954	0.311000	0.23014	-0.225000	0.12378	GGA		0.353	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1		NM_000341		9	65	0	0	0	0.006214	0	9	65		
ERLEC1	27248	broad.mit.edu	37	2	54028617	54028617	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:54028617G>A	ENST00000185150.4	+	7	740	c.609G>A	c.(607-609)caG>caA	p.Q203Q	ERLEC1_ENST00000378239.5_Silent_p.Q203Q|ERLEC1_ENST00000405123.3_Silent_p.Q203Q|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	203					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GTTTGAAACAGAACCGGCCCA	0.373																																						uc002rxl.2		NaN																	0				ovary(2)	2						c.(607-609)CAG>CAA		erlectin isoform 1							125.0	104.0	111.0					2																	54028617		2203	4300	6503	SO:0001819	synonymous_variant	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54028617G>A	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.609G>A	2.37:g.54028617G>A						ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Silent_p.Q203Q|ERLEC1_uc002rxn.2_Silent_p.Q203Q	p.Q203Q	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN			7	889	+			203					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Silent	SNP	ENST00000185150.4	37	c.609G>A	CCDS1848.1																																																																																				0.373	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1		NM_015701		47	88	0	0	0	0.01441	0	47	88		
SPTBN1	6711	broad.mit.edu	37	2	54882285	54882285	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:54882285C>T	ENST00000356805.4	+	28	6182	c.5901C>T	c.(5899-5901)ttC>ttT	p.F1967F	SPTBN1_ENST00000333896.5_Silent_p.F1954F	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1967	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ATGACAGTTTCACAACCTGCA	0.423																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(5899-5901)TTC>TTT		spectrin, beta, non-erythrocytic 1 isoform 1							159.0	124.0	136.0					2																	54882285		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54882285C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5901C>T	2.37:g.54882285C>T						SPTBN1_uc002rxx.2_Silent_p.F1954F|SPTBN1_uc002rxy.2_Silent_p.F112F|SPTBN1_uc010you.1_5'Flank	p.F1967F	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		28	6150	+			1967			Spectrin 16.|Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.5901C>T	CCDS33198.1																																																																																				0.423	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				14	67	0	0	0	0.001855	0	14	67		
RTN4	57142	broad.mit.edu	37	2	55252388	55252388	+	Silent	SNP	G	G	C	rs201878803		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:55252388G>C	ENST00000337526.6	-	3	3090	c.2847C>G	c.(2845-2847)ctC>ctG	p.L949L	RTN4_ENST00000357376.3_Silent_p.L743L|RTN4_ENST00000354474.6_Silent_p.L717L|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Silent_p.L743L|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Silent_p.L743L|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000405240.1_Silent_p.L743L	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	949					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GAGGCAATAAGAGCACCTTTG	0.393																																						uc002rye.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(2845-2847)CTC>CTG		reticulon 4 isoform A							126.0	125.0	125.0					2																	55252388		2203	4299	6502	SO:0001819	synonymous_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252388G>C	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2847C>G	2.37:g.55252388G>C						RTN4_uc002ryd.2_Silent_p.L743L|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	p.L949L	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			3	3145	-			949			Cytoplasmic (Potential).		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Silent	SNP	ENST00000337526.6	37	c.2847C>G	CCDS42684.1																																																																																				0.393	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1				94	92	0	0	0	0.01441	0	94	92		
RTN4	57142	broad.mit.edu	37	2	55253818	55253818	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:55253818C>T	ENST00000337526.6	-	3	1660	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	RTN4_ENST00000357376.3_Missense_Mutation_p.E267K|RTN4_ENST00000354474.6_Missense_Mutation_p.E241K|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.E267K|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.E267K|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.E267K	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	473					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GCAATGCTCTCAGTTGCTGCT	0.388																																						uc002rye.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1417-1419)GAG>AAG		reticulon 4 isoform A							136.0	128.0	130.0					2																	55253818		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253818C>T	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1417G>A	2.37:g.55253818C>T	ENSP00000337838:p.Glu473Lys					RTN4_uc002ryd.2_Missense_Mutation_p.E267K|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	p.E473K	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			3	1715	-			473			Cytoplasmic (Potential).		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.1417G>A	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478096	0.26511	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.21361	2.01;2.01;2.33;2.01;2.01;2.03	5.8	3.95	0.45737	.	0.489229	0.22480	N	0.059505	T	0.21387	0.0515	L	0.56769	1.78	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.14476	-1.0471	10	0.40728	T	0.16	-1.6393	10.298	0.43635	0.0:0.794:0.1344:0.0716	.	473	Q9NQC3	RTN4_HUMAN	K	267;267;473;267;267;241	ENSP00000384471:E267K;ENSP00000349944:E267K;ENSP00000337838:E473K;ENSP00000378109:E267K;ENSP00000385650:E267K;ENSP00000346465:E241K	ENSP00000337838:E473K	E	-	1	0	RTN4	55107322	0.621000	0.27077	0.004000	0.12327	0.497000	0.33675	2.493000	0.45320	0.753000	0.32945	0.650000	0.86243	GAG		0.388	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1				131	215	0	0	0	0.01441	0	131	215		
MTIF2	4528	broad.mit.edu	37	2	55471226	55471226	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:55471226C>T	ENST00000263629.4	-	11	1565	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	MTIF2_ENST00000403721.1_Missense_Mutation_p.G417E|MTIF2_ENST00000394600.3_Missense_Mutation_p.G417E	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	417					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GCCTGTAATTCCCACTGGCAT	0.393																																						uc002ryn.2		NaN																	0				ovary(1)	1						c.(1249-1251)GGA>GAA		mitochondrial translational initiation factor 2							79.0	76.0	77.0					2																	55471226		2203	4300	6503	SO:0001583	missense	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55471226C>T	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1250G>A	2.37:g.55471226C>T	ENSP00000263629:p.Gly417Glu					MTIF2_uc010yox.1_Missense_Mutation_p.G86E|MTIF2_uc002ryo.2_Missense_Mutation_p.G417E	p.G417E	NM_001005369	NP_001005369	P46199	IF2M_HUMAN			12	1987	-			417					D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.1250G>A	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	8.340	0.828564	0.16749	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.63744	-0.06;-0.06;-0.06	5.88	4.9	0.64082	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.108373	0.64402	D	0.000009	T	0.08358	0.0208	N	0.00001	-3.81	0.44000	D	0.996703	B	0.06786	0.001	B	0.11329	0.006	T	0.54629	-0.8265	10	0.02654	T	1	-25.4052	3.8918	0.09122	0.0:0.6799:0.0:0.3201	.	417	P46199	IF2M_HUMAN	E	417	ENSP00000384481:G417E;ENSP00000263629:G417E;ENSP00000378099:G417E	ENSP00000263629:G417E	G	-	2	0	MTIF2	55324730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.025000	0.70864	2.779000	0.95612	0.650000	0.86243	GGA		0.393	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4		NM_002453		47	40	0	0	0	0.01441	0	47	40		
BCL11A	53335	broad.mit.edu	37	2	60688925	60688925	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:60688925G>C	ENST00000335712.6	-	4	1349	c.1122C>G	c.(1120-1122)gtC>gtG	p.V374V	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Silent_p.V374V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.V340V|BCL11A_ENST00000538214.1_Silent_p.V340V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	374					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACTTGGACTTGACCGGGGGCT	0.632			T	IGH@	B-CLL																																	uc002sae.1		NaN		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1120-1122)GTC>GTG		B-cell CLL/lymphoma 11A isoform 1							50.0	57.0	54.0					2																	60688925		2202	4300	6502	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688925G>C	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1122C>G	2.37:g.60688925G>C						BCL11A_uc002sab.2_Silent_p.V374V|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Silent_p.V340V|BCL11A_uc002sad.1_Silent_p.V222V|BCL11A_uc002saf.1_Silent_p.V340V	p.V374V	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1350	-			374					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1122C>G	CCDS1862.1																																																																																				0.632	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2		NM_022893		30	80	0	0	0	0.008361	0	30	80		
B3GNT2	10678	broad.mit.edu	37	2	62449761	62449761	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:62449761G>C	ENST00000301998.4	+	2	658	c.406G>C	c.(406-408)Gat>Cat	p.D136H	B3GNT2_ENST00000405767.1_Missense_Mutation_p.D136H	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	136					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AGATCAGCCGGATAAGTGTGC	0.463																																						uc002sbs.2		NaN																	0				ovary(1)	1						c.(406-408)GAT>CAT		UDP-GlcNAc:betaGal							118.0	132.0	127.0					2																	62449761		2203	4300	6503	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449761G>C	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.406G>C	2.37:g.62449761G>C	ENSP00000305595:p.Asp136His						p.D136H	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	644	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		136			Lumenal (Potential).		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.406G>C	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060887	0.19987	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.28069	1.63;1.63	5.75	0.528	0.17089	.	1.037060	0.07529	N	0.911919	T	0.25344	0.0616	L	0.43152	1.355	0.09310	N	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.31888	-0.9927	10	0.51188	T	0.08	.	5.9369	0.19171	0.6202:0.1723:0.2075:0.0	.	136	Q9NY97	B3GN2_HUMAN	H	136	ENSP00000305595:D136H;ENSP00000384692:D136H	ENSP00000305595:D136H	D	+	1	0	B3GNT2	62303265	0.007000	0.16637	0.000000	0.03702	0.966000	0.64601	0.406000	0.21032	0.018000	0.15052	-0.211000	0.12701	GAT		0.463	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2		NM_006577		44	257	0	0	0	0.013114	0	44	257		
OTX1	5013	broad.mit.edu	37	2	63282997	63282997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:63282997C>T	ENST00000282549.2	+	5	887	c.611C>T	c.(610-612)tCg>tTg	p.S204L	OTX1_ENST00000366671.3_Missense_Mutation_p.S204L	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	204					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGCAACACCTCGTGTATGCAG	0.682																																						uc002scd.2		NaN																	0				pancreas(2)	2						c.(610-612)TCG>TTG		orthodenticle homeobox 1							17.0	19.0	18.0					2																	63282997		2201	4297	6498	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63282997C>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.611C>T	2.37:g.63282997C>T	ENSP00000282549:p.Ser204Leu					OTX1_uc010ypt.1_Missense_Mutation_p.S138L	p.S204L	NM_014562	NP_055377	P32242	OTX1_HUMAN			5	859	+	Lung NSC(7;0.121)|all_lung(7;0.211)		204					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.611C>T	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	35	5.471799	0.96274	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.88818	-2.43;-2.43	3.61	3.61	0.41365	Transcription factor Otx, C-terminal (1);	0.000000	0.64402	D	0.000007	D	0.93631	0.7966	M	0.84326	2.69	0.58432	D	0.999996	D	0.63046	0.992	D	0.70227	0.968	D	0.93006	0.6427	10	0.37606	T	0.19	.	13.1182	0.59311	0.0:1.0:0.0:0.0	.	204	P32242	OTX1_HUMAN	L	204	ENSP00000355631:S204L;ENSP00000282549:S204L	ENSP00000282549:S204L	S	+	2	0	OTX1	63136501	1.000000	0.71417	0.962000	0.40283	0.823000	0.46562	7.453000	0.80700	2.010000	0.58986	0.462000	0.41574	TCG		0.682	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1				4	4	0	0	0	0.008291	0	4	4		
AFTPH	54812	broad.mit.edu	37	2	64796344	64796344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:64796344C>T	ENST00000422803.1	+	4	2520	c.2206C>T	c.(2206-2208)Cga>Tga	p.R736*	AFTPH_ENST00000238855.7_Nonsense_Mutation_p.R736*|AFTPH_ENST00000409933.1_Nonsense_Mutation_p.R736*|AFTPH_ENST00000409183.1_Nonsense_Mutation_p.R367*|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238856.4_Nonsense_Mutation_p.R736*			Q6ULP2	AFTIN_HUMAN	aftiphilin	736					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AATAGACACCCGAAACATTGT	0.418																																						uc002sdc.2		NaN																	0				ovary(2)	2						c.(2206-2208)CGA>TGA		aftiphilin protein isoform a							130.0	123.0	125.0					2																	64796344		2203	4300	6503	SO:0001587	stop_gained	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64796344C>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2206C>T	2.37:g.64796344C>T	ENSP00000397726:p.Arg736*					AFTPH_uc002scz.2_Nonsense_Mutation_p.R736*|AFTPH_uc002sda.2_Nonsense_Mutation_p.R736*|AFTPH_uc002sdb.2_Nonsense_Mutation_p.R736*	p.R736*	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			3	2238	+			736					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Nonsense_Mutation	SNP	ENST00000422803.1	37	c.2206C>T		.	.	.	.	.	.	.	.	.	.	C	42	9.363102	0.99148	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	.	.	.	5.01	4.11	0.48088	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6544	12.4159	0.55494	0.5021:0.4979:0.0:0.0	.	.	.	.	X	736;736;736;736;367	.	ENSP00000238855:R736X	R	+	1	2	AFTPH	64649848	0.919000	0.31177	0.956000	0.39512	0.964000	0.63967	1.978000	0.40598	1.179000	0.42884	-0.284000	0.09977	CGA		0.418	AFTPH-202	KNOWN	basic	protein_coding	protein_coding			NM_017657		21	138	0	0	0	0.012319	0	21	138		
GFPT1	2673	broad.mit.edu	37	2	69569358	69569358	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:69569358G>C	ENST00000357308.4	-	13	1307	c.1129C>G	c.(1129-1131)Cac>Gac	p.H377D	GFPT1_ENST00000361060.5_Missense_Mutation_p.H359D	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	377	Isomerase.|SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TCCTTTATGTGATCCTTCAAA	0.358																																						uc002sfh.2		NaN																	0				skin(1)	1						c.(1075-1077)CAC>GAC		glucosamine-fructose-6-phosphate							122.0	132.0	128.0					2																	69569358		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69569358G>C		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1129C>G	2.37:g.69569358G>C	ENSP00000349860:p.His377Asp						p.H359D	NM_002056	NP_002047	Q06210	GFPT1_HUMAN			12	1254	-			377			SIS 1.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.1075C>G	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747598	0.89663	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.71579	-0.58;-0.58	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	M	0.82630	2.6	0.80722	D	1	D	0.62365	0.991	D	0.65773	0.938	D	0.86997	0.2114	10	0.87932	D	0	-13.1972	17.5034	0.87738	0.0:0.0:1.0:0.0	.	359	Q06210-2	.	D	377;359	ENSP00000349860:H377D;ENSP00000354347:H359D	ENSP00000349860:H377D	H	-	1	0	GFPT1	69422862	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.547000	0.98100	2.615000	0.88500	0.557000	0.71058	CAC		0.358	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding					48	232	0	0	0	0.01441	0	48	232		
PCBP1	5093	broad.mit.edu	37	2	70315543	70315543	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:70315543C>T	ENST00000303577.5	+	1	959	c.668C>T	c.(667-669)tCg>tTg	p.S223L	PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	223					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GATGCCTACTCGATTCAAGGA	0.607																																					Colon(85;1146 1307 3484 18706 25380)	uc002sgf.2		NaN																	0					0						c.(667-669)TCG>TTG		poly(rC) binding protein 1							43.0	42.0	42.0					2																	70315543		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315543C>T		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.668C>T	2.37:g.70315543C>T	ENSP00000305556:p.Ser223Leu					ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank	p.S223L	NM_006196	NP_006187	Q15365	PCBP1_HUMAN			1	959	+			223					Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.668C>T	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415229	0.42817	.	.	ENSG00000169564	ENST00000303577	T	0.31247	1.5	4.29	3.4	0.38934	.	0.155218	0.42964	D	0.000633	T	0.18425	0.0442	N	0.24115	0.695	0.32535	N	0.53449	B	0.24576	0.106	B	0.17433	0.018	T	0.15925	-1.0420	10	0.29301	T	0.29	.	9.7279	0.40344	0.2063:0.7937:0.0:0.0	.	223	Q15365	PCBP1_HUMAN	L	223	ENSP00000305556:S223L	ENSP00000305556:S223L	S	+	2	0	PCBP1	70169047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.520000	0.67080	1.403000	0.46800	0.650000	0.86243	TCG		0.607	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1		NM_006196		23	29	0	0	0	0.00278	0	23	29		
NAGK	55577	broad.mit.edu	37	2	71297643	71297643	+	Missense_Mutation	SNP	G	G	A	rs544314261	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:71297643G>A	ENST00000244204.6	+	2	103	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	NAGK_ENST00000418807.3_Intron|NAGK_ENST00000428360.2_3'UTR|NAGK_ENST00000443938.2_Missense_Mutation_p.R14Q|NAGK_ENST00000455662.2_Missense_Mutation_p.R60Q|NAGK_ENST00000443872.2_Intron|RP11-467P9.1_ENST00000608897.1_lincRNA			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	14					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GGAGGCACACGATCCGAGGTC	0.527											OREG0014689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0015	0.0	5008	,	,		19256	0.0		0.0	False		,,,				2504	0.0					uc002shp.3		NaN																	0					0						c.(40-42)CGA>CAA		N-Acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						88.0	89.0	89.0					2																	71297643		2203	4300	6503	SO:0001583	missense	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71297643G>A	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.41G>A	2.37:g.71297643G>A	ENSP00000244204:p.Arg14Gln		OREG0014689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_5'UTR|NAGK_uc002shr.2_5'UTR	p.R14Q	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN			2	447	+			14					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37	c.41G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.41|14.41	2.526524|2.526524	0.44969|0.44969	.|.	.|.	ENSG00000124357|ENSG00000124357	ENST00000443938|ENST00000244204;ENST00000455662	.|T;T	.|0.29917	.|1.55;1.55	4.63|4.63	-4.36|-4.36	0.03645|0.03645	.|ATPase, BadF/BadG/BcrA/BcrD type (1);	.|0.472515	.|0.22084	.|N	.|0.064856	T|T	0.13841|0.13841	0.0335|0.0335	N|N	0.08118|0.08118	0|0	0.24268|0.24268	N|N	0.995258|0.995258	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.10965|0.10965	-1.0607|-1.0607	5|10	.|0.56958	.|D	.|0.05	-42.4524|-42.4524	12.968|12.968	0.58497|0.58497	0.7743:0.0:0.2257:0.0|0.7743:0.0:0.2257:0.0	.|.	.|14	.|Q9UJ70	.|NAGK_HUMAN	N|Q	36|14;60	.|ENSP00000244204:R14Q;ENSP00000389087:R60Q	.|ENSP00000244204:R14Q	D|R	+|+	1|2	0|0	NAGK|NAGK	71151151|71151151	0.998000|0.998000	0.40836|0.40836	0.140000|0.140000	0.22221|0.22221	0.957000|0.957000	0.61999|0.61999	0.855000|0.855000	0.27805|0.27805	-0.938000|-0.938000	0.03714|0.03714	0.462000|0.462000	0.41574|0.41574	GAT|CGA		0.527	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1				10	35	0	0	0	0.010729	0	10	35		
CCDC142	84865	broad.mit.edu	37	2	74709391	74709391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:74709391C>T	ENST00000393965.3	-	1	970	c.574G>A	c.(574-576)Gag>Aag	p.E192K	CCDC142_ENST00000290418.4_Missense_Mutation_p.E192K|TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000471713.1_Intron	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	192										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CTGGCGGGCTCCCGGCCGAGA	0.667																																						uc002slr.2		NaN																	0				central_nervous_system(1)	1						c.(574-576)GAG>AAG		coiled-coil domain containing 142							23.0	33.0	29.0					2																	74709391		2195	4297	6492	SO:0001583	missense	84865							g.chr2:74709391C>T	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.574G>A	2.37:g.74709391C>T	ENSP00000377537:p.Glu192Lys					TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.E192K|CCDC142_uc002slp.2_Missense_Mutation_p.E192K	p.E192K	NM_032779	NP_116168	Q17RM4	CC142_HUMAN			1	967	-			192					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.574G>A		.	.	.	.	.	.	.	.	.	.	C	11.70	1.715425	0.30413	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	D;D	0.84146	-1.81;-1.81	4.58	3.68	0.42216	.	0.812162	0.10886	N	0.623279	T	0.78824	0.4344	L	0.36672	1.1	0.21950	N	0.999453	B;B;B	0.24721	0.11;0.11;0.11	B;B;B	0.27715	0.082;0.082;0.082	T	0.66654	-0.5869	10	0.36615	T	0.2	0.0441	9.1551	0.36988	0.0:0.8975:0.0:0.1025	.	192;192;192	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	K	192	ENSP00000377537:E192K;ENSP00000290418:E192K	ENSP00000290418:E192K	E	-	1	0	CCDC142	74562899	0.900000	0.30661	0.618000	0.29105	0.190000	0.23558	0.616000	0.24344	1.250000	0.43966	0.561000	0.74099	GAG		0.667	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1		NM_032779		6	9	0	0	0	0.001168	0	6	9		
SEMA4F	10505	broad.mit.edu	37	2	74883774	74883774	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:74883774G>C	ENST00000357877.2	+	2	408	c.259G>C	c.(259-261)Gct>Cct	p.A87P	SEMA4F_ENST00000339773.5_Missense_Mutation_p.A87P	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	87	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CACCATCTTCGCTTTATCCCT	0.527																																						uc002sna.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(259-261)GCT>CCT		semaphorin W precursor							97.0	90.0	92.0					2																	74883774		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74883774G>C	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.259G>C	2.37:g.74883774G>C	ENSP00000350547:p.Ala87Pro					SEMA4F_uc010ysb.1_Missense_Mutation_p.A87P|SEMA4F_uc010ffq.1_Missense_Mutation_p.A87P|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.A87P	p.A87P	NM_004263	NP_004254	O95754	SEM4F_HUMAN			2	370	+			87			Sema.|Extracellular (Potential).		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.259G>C	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293153	0.80914	.	.	ENSG00000135622	ENST00000357877;ENST00000339773;ENST00000434486;ENST00000453930	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	4.9	4.9	0.64082	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.153488	0.41605	N	0.000848	T	0.33411	0.0862	M	0.79123	2.44	0.29663	N	0.843075	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	D;D;D;D	0.91635	0.992;0.985;0.999;0.984	T	0.14309	-1.0477	10	0.87932	D	0	.	13.5155	0.61539	0.0:0.0:1.0:0.0	.	87;87;87;87	B7Z931;C9K0A1;O95754-2;O95754	.;.;.;SEM4F_HUMAN	P	87	ENSP00000350547:A87P;ENSP00000342675:A87P;ENSP00000407698:A87P;ENSP00000409141:A87P	ENSP00000342675:A87P	A	+	1	0	SEMA4F	74737282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.235000	0.58666	2.568000	0.86640	0.650000	0.86243	GCT		0.527	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2		NM_004263		54	80	0	0	0	0.01441	0	54	80		
TRABD2A	129293	broad.mit.edu	37	2	85108116	85108116	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:85108116G>C	ENST00000409520.2	-	1	90	c.48C>G	c.(46-48)ccC>ccG	p.P16P	TRABD2A_ENST00000335459.5_Silent_p.P16P|TRABD2A_ENST00000409133.1_Silent_p.P16P	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	16					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)										CTGCGCCCGTGGGCAGGAGGC	0.711																																						uc010ysl.1		NaN																	0				ovary(1)	1						c.(46-48)CCC>CCG		hypothetical protein LOC129293 precursor							8.0	11.0	10.0					2																	85108116		1871	4043	5914	SO:0001819	synonymous_variant	129293					integral to membrane		g.chr2:85108116G>C	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.48C>G	2.37:g.85108116G>C						C2orf89_uc002sou.3_Silent_p.P16P|C2orf89_uc010fgc.1_Silent_p.P16P	p.P16P	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			1	137	-			16					B4DKK8|I6UMB9	Silent	SNP	ENST00000409520.2	37	c.48C>G																																																																																					0.711	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001080824		7	3	0	0	0	0.004482	0	7	3		
ELMOD3	84173	broad.mit.edu	37	2	85616934	85616934	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:85616934G>A	ENST00000409890.2	+	12	1466	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ELMOD3_ENST00000409344.3_Missense_Mutation_p.E267K|RP11-717A5.2_ENST00000610137.1_RNA|ELMOD3_ENST00000393852.4_Missense_Mutation_p.E267K|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409013.3_Missense_Mutation_p.E267K|ELMOD3_ENST00000315658.7_Missense_Mutation_p.E267K			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	267	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GGCCTTGAGAGAGGAGTGTCT	0.542																																						uc002spf.3		NaN																	0				ovary(2)	2						c.(799-801)GAG>AAG		ELMO/CED-12 domain containing 3 isoform b							97.0	82.0	87.0					2																	85616934		2203	4300	6503	SO:0001583	missense	84173				phagocytosis	cytoskeleton		g.chr2:85616934G>A	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.799G>A	2.37:g.85616934G>A	ENSP00000386304:p.Glu267Lys					ELMOD3_uc002spg.3_Missense_Mutation_p.E267K|ELMOD3_uc002sph.3_Missense_Mutation_p.E267K|ELMOD3_uc010ysn.1_Missense_Mutation_p.E267K|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	p.E267K	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN			13	1464	+			267			ELMO.		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	c.799G>A	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515136	0.85389	.	.	ENSG00000115459	ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000315658	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.84	4.84	0.62591	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	M	0.63843	1.955	0.80722	D	1	D;P	0.58268	0.982;0.689	P;B	0.55615	0.78;0.35	T	0.36089	-0.9762	10	0.38643	T	0.18	-13.3601	15.4164	0.74974	0.0:0.0:1.0:0.0	.	267;267	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	K	267	ENSP00000387139:E267K;ENSP00000386304:E267K;ENSP00000386248:E267K;ENSP00000377434:E267K;ENSP00000318264:E267K	ENSP00000318264:E267K	E	+	1	0	ELMOD3	85470445	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	8.198000	0.89729	2.246000	0.74042	0.563000	0.77884	GAG		0.542	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1		NM_032213		33	40	0	0	0	0.003755	0	33	40		
SH2D6	284948	broad.mit.edu	37	2	85662187	85662187	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:85662187G>A	ENST00000340326.2	+	1	270	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	SH2D6_ENST00000389938.2_Splice_Site|SH2D6_ENST00000481426.2_Splice_Site|Y_RNA_ENST00000384478.1_RNA	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	37										central_nervous_system(1)|lung(2)	3						GCTTCTTCTAGAAGGAAGGAA	0.632																																						uc002spq.2		NaN																	0				central_nervous_system(1)	1						c.(109-111)GAA>AAA		SH2 domain containing 6							21.0	21.0	21.0					2																	85662187		2202	4300	6502	SO:0001583	missense	284948							g.chr2:85662187G>A	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.109G>A	2.37:g.85662187G>A	ENSP00000341867:p.Glu37Lys					SH2D6_uc002spo.2_Splice_Site|SH2D6_uc002spp.2_Splice_Site	p.E37K	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN			1	270	+			37					A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.109G>A	CCDS1976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.82|10.82	1.459567|1.459567	0.26248|0.26248	.|.	.|.	ENSG00000152292|ENSG00000152292	ENST00000389938|ENST00000340326	.|T	.|0.77229	.|-1.08	3.47|3.47	3.47|3.47	0.39725|0.39725	.|.	.|0.405452	.|0.17065	.|N	.|0.188406	.|T	.|0.57784	.|0.2077	N|N	0.14661|0.14661	0.345|0.345	0.21445|0.21445	N|N	0.99969|0.99969	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.32981	.|-0.9886	.|10	.|0.11485	.|T	.|0.65	.|-1.7563	10.7712|10.7712	0.46323|0.46323	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|37	.|Q7Z4S9	.|SH2D6_HUMAN	.|K	-1|37	.|ENSP00000341867:E37K	.|ENSP00000341867:E37K	.|E	+|+	.|1	.|0	SH2D6|SH2D6	85515698|85515698	0.959000|0.959000	0.32827|0.32827	0.724000|0.724000	0.30704|0.30704	0.029000|0.029000	0.11900|0.11900	1.626000|1.626000	0.37039|0.37039	2.239000|2.239000	0.73571|0.73571	0.455000|0.455000	0.32223|0.32223	.|GAA		0.632	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2		NM_198482		10	23	0	0	0	0.006214	0	10	23		
POLR1A	25885	broad.mit.edu	37	2	86259451	86259451	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:86259451C>T	ENST00000263857.6	-	29	4594	c.4216G>A	c.(4216-4218)Gag>Aag	p.E1406K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E1406K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1406					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						TCCCCCTCCTCAGCTTCAGCA	0.567																																						uc002sqs.2		NaN																	0				ovary(2)|skin(1)	3						c.(4216-4218)GAG>AAG		DNA-directed RNA polymerase I A							167.0	179.0	175.0					2																	86259451		2123	4233	6356	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.chr2:86259451C>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.4216G>A	2.37:g.86259451C>T	ENSP00000263857:p.Glu1406Lys					POLR1A_uc010ytb.1_Missense_Mutation_p.E772K	p.E1406K	NM_015425	NP_056240	O95602	RPA1_HUMAN			29	4595	-			1406					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4216G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592840	0.46214	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.64260	-0.09;3.19	4.94	4.94	0.65067	RNA polymerase Rpb1, domain 5 (1);	0.275439	0.39909	N	0.001238	T	0.60038	0.2238	M	0.63428	1.95	0.39676	D	0.970827	B	0.23185	0.081	B	0.25506	0.061	T	0.58858	-0.7562	10	0.34782	T	0.22	-18.612	14.4322	0.67259	0.0:0.925:0.0:0.075	.	1406	O95602	RPA1_HUMAN	K	1406	ENSP00000263857:E1406K;ENSP00000386300:E1406K	ENSP00000263857:E1406K	E	-	1	0	POLR1A	86112962	0.981000	0.34729	0.999000	0.59377	0.635000	0.38103	2.507000	0.45442	2.677000	0.91161	0.462000	0.41574	GAG		0.567	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2		NM_015425		40	54	0	0	0	0.00623	0	40	54		
PTCD3	55037	broad.mit.edu	37	2	86333455	86333455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:86333455G>A	ENST00000254630.7	+	1	151	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	POLR1A_ENST00000409681.1_5'Flank|POLR1A_ENST00000263857.6_5'Flank|PTCD3_ENST00000465560.1_3'UTR|PTCD3_ENST00000409277.3_Missense_Mutation_p.E29K	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	29					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GGGTTTGTGTGAACAGGCACG	0.597																																						uc002sqw.2		NaN																	0				ovary(1)	1						c.(85-87)GAA>AAA		pentatricopeptide repeat domain 3 precursor							46.0	54.0	51.0					2																	86333455		2202	4300	6502	SO:0001583	missense	55037					mitochondrion	protein binding	g.chr2:86333455G>A		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.85G>A	2.37:g.86333455G>A	ENSP00000254630:p.Glu29Lys					POLR1A_uc002sqs.2_5'Flank|POLR1A_uc002sqv.2_5'Flank|PTCD3_uc010ytc.1_RNA	p.E29K	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN			1	151	+			29					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	c.85G>A	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083248	0.36758	.	.	ENSG00000132300	ENST00000254630;ENST00000409783;ENST00000409277	T;T;T	0.47528	1.41;0.86;0.84	4.7	2.9	0.33743	.	0.788712	0.12019	N	0.507126	T	0.35653	0.0939	L	0.51422	1.61	0.09310	N	1	B	0.22003	0.063	B	0.19946	0.027	T	0.30416	-0.9979	10	0.08599	T	0.76	-1.8355	6.8165	0.23833	0.2052:0.0:0.7948:0.0	.	29	Q96EY7	PTCD3_HUMAN	K	29	ENSP00000254630:E29K;ENSP00000386922:E29K;ENSP00000386462:E29K	ENSP00000254630:E29K	E	+	1	0	PTCD3	86186966	0.055000	0.20627	0.007000	0.13788	0.014000	0.08584	1.217000	0.32455	1.341000	0.45600	-0.232000	0.12228	GAA		0.597	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1		NM_017952		17	47	0	0	0	0.014323	0	17	47		
KRCC1	51315	broad.mit.edu	37	2	88327938	88327938	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:88327938C>T	ENST00000347055.3	-	4	538	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	49										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						GAATTAACCTCTCCTTTGTAC	0.418																																						uc002sso.1		NaN																	0				ovary(1)	1						c.(145-147)GAG>AAG		lysine-rich coiled-coil 1							84.0	77.0	79.0					2																	88327938		2203	4300	6503	SO:0001583	missense	51315							g.chr2:88327938C>T	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.145G>A	2.37:g.88327938C>T	ENSP00000340083:p.Glu49Lys					KRCC1_uc002ssp.1_Missense_Mutation_p.E49K	p.E49K	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN			4	539	-			49					Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.145G>A	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500775	0.64298	.	.	ENSG00000172086	ENST00000347055	T	0.33654	1.4	5.63	5.63	0.86233	.	0.205962	0.36628	N	0.002491	T	0.50446	0.1616	M	0.61703	1.905	0.50467	D	0.999874	D	0.67145	0.996	P	0.60415	0.874	T	0.39583	-0.9607	10	0.07813	T	0.8	-10.7364	17.2365	0.87000	0.0:1.0:0.0:0.0	.	49	Q9NPI7	KRCC1_HUMAN	K	49	ENSP00000340083:E49K	ENSP00000340083:E49K	E	-	1	0	KRCC1	88109053	0.238000	0.23825	1.000000	0.80357	0.737000	0.42083	1.374000	0.34283	2.666000	0.90696	0.603000	0.83216	GAG		0.418	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1		NM_016618		52	93	0	0	0	0.01441	0	52	93		
PROM2	150696	broad.mit.edu	37	2	95940393	95940393	+	Silent	SNP	G	G	A	rs201917939	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:95940393G>A	ENST00000317620.9	+	1	193	c.60G>A	c.(58-60)ctG>ctA	p.L20L	PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Silent_p.L20L|PROM2_ENST00000403131.2_Silent_p.L20L|PROM2_ENST00000317668.4_Silent_p.L20L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	20					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGCTGGCCCTGAGTCAGCTGG	0.677																																						uc002suh.1		NaN																	0				ovary(1)	1						c.(58-60)CTG>CTA		prominin 2 precursor							32.0	38.0	36.0					2																	95940393		2203	4299	6502	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95940393G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.60G>A	2.37:g.95940393G>A						PROM2_uc002sui.2_Silent_p.L20L|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Silent_p.L20L|PROM2_uc002sul.2_5'UTR	p.L20L	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			1	193	+			20					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.60G>A	CCDS2012.1																																																																																				0.677	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1		NM_144707		10	65	0	0	0	0.008291	0	10	65		
PROM2	150696	broad.mit.edu	37	2	95940456	95940456	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:95940456C>T	ENST00000317620.9	+	1	256	c.123C>T	c.(121-123)ttC>ttT	p.F41F	PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Silent_p.F41F|PROM2_ENST00000403131.2_Silent_p.F41F|PROM2_ENST00000317668.4_Silent_p.F41F	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	41					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ACCTGACATTCACCCCAGCAG	0.697																																						uc002suh.1		NaN																	0				ovary(1)	1						c.(121-123)TTC>TTT		prominin 2 precursor							57.0	68.0	64.0					2																	95940456		2203	4299	6502	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95940456C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.123C>T	2.37:g.95940456C>T						PROM2_uc002sui.2_Silent_p.F41F|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Silent_p.F41F|PROM2_uc002sul.2_5'UTR	p.F41F	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			1	256	+			41			Extracellular (Potential).		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.123C>T	CCDS2012.1																																																																																				0.697	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1		NM_144707		42	147	0	0	0	0.013114	0	42	147		
FAHD2A	51011	broad.mit.edu	37	2	96072879	96072879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:96072879G>T	ENST00000233379.4	+	3	589	c.436G>T	c.(436-438)Gag>Tag	p.E146*	FAHD2A_ENST00000447036.1_Nonsense_Mutation_p.E146*	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	146							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						GCCCTATGATGAGGTGGTCCT	0.562																																						uc002sur.2		NaN																	0				ovary(1)	1						c.(436-438)GAG>TAG		fumarylacetoacetate hydrolase domain containing							86.0	85.0	85.0					2																	96072879		2203	4300	6503	SO:0001587	stop_gained	51011						hydrolase activity|metal ion binding	g.chr2:96072879G>T	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.436G>T	2.37:g.96072879G>T	ENSP00000233379:p.Glu146*					FAHD2A_uc002sus.2_Nonsense_Mutation_p.E146*	p.E146*	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN			3	615	+			146					Q9Y3B0	Nonsense_Mutation	SNP	ENST00000233379.4	37	c.436G>T	CCDS2014.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007635	0.93287	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	.	.	.	3.35	1.45	0.22620	.	0.895501	0.09699	N	0.767293	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	4.0393	0.09743	0.2356:0.1952:0.5691:0.0	.	.	.	.	X	146	.	ENSP00000233379:E146X	E	+	1	0	FAHD2A	95436606	0.968000	0.33430	0.003000	0.11579	0.856000	0.48823	2.653000	0.46691	0.208000	0.20626	0.561000	0.74099	GAG		0.562	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1		NM_016044		10	124	1	0	9.05144e-12	0.001855	9.45218e-12	10	124		
ARID5A	10865	broad.mit.edu	37	2	97215120	97215120	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:97215120C>T	ENST00000357485.3	+	3	261	c.183C>T	c.(181-183)ttC>ttT	p.F61F	ARID5A_ENST00000454558.2_5'UTR	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	61	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						agcaggCCTTCCTGGTCAGCC	0.662																																						uc002swe.2		NaN																	0					0						c.(181-183)TTC>TTT		AT rich interactive domain 5A							103.0	94.0	97.0					2																	97215120		2203	4300	6503	SO:0001819	synonymous_variant	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97215120C>T	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.183C>T	2.37:g.97215120C>T						ARID5A_uc010yuq.1_5'UTR|ARID5A_uc002swf.2_Intron|ARID5A_uc002swg.2_Intron	p.F61F	NM_212481	NP_997646	Q03989	ARI5A_HUMAN			3	283	+			61			ARID.		Q6NX37	Silent	SNP	ENST00000357485.3	37	c.183C>T	CCDS33251.1																																																																																				0.662	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2		NM_212481		28	46	0	0	0	0.008361	0	28	46		
EIF5B	9669	broad.mit.edu	37	2	99976974	99976974	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:99976974C>G	ENST00000289371.6	+	3	410	c.208C>G	c.(208-210)Caa>Gaa	p.Q70E		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	70					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTTGGAAGCTCAAGGCATCAA	0.348																																					Colon(162;2388 2567 2705 3444)	uc002tab.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(208-210)CAA>GAA		eukaryotic translation initiation factor 5B							76.0	74.0	75.0					2																	99976974		1854	4112	5966	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99976974C>G	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.208C>G	2.37:g.99976974C>G	ENSP00000289371:p.Gln70Glu						p.Q70E	NM_015904	NP_056988	O60841	IF2P_HUMAN			3	392	+			70					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.208C>G	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248133	0.59103	.	.	ENSG00000158417	ENST00000289371	T	0.42131	0.98	5.17	5.17	0.71159	.	.	.	.	.	T	0.45216	0.1331	M	0.70275	2.135	0.52099	D	0.99994	B	0.19073	0.033	B	0.14023	0.01	T	0.35871	-0.9771	8	.	.	.	-27.9655	18.0139	0.89232	0.0:1.0:0.0:0.0	.	70	O60841	IF2P_HUMAN	E	70	ENSP00000289371:Q70E	.	Q	+	1	0	EIF5B	99343406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.328000	0.52052	2.563000	0.86464	0.655000	0.94253	CAA		0.348	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2		NM_015904		19	44	0	0	0	0.007413	0	19	44		
EIF5B	9669	broad.mit.edu	37	2	99984993	99984993	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:99984993G>A	ENST00000289371.6	+	7	1528	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	442					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCCAAAGAAGAGGCCAATTT	0.343																																					Colon(162;2388 2567 2705 3444)	uc002tab.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1324-1326)AAG>AAA		eukaryotic translation initiation factor 5B							99.0	87.0	91.0					2																	99984993		1813	4087	5900	SO:0001819	synonymous_variant	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99984993G>A	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1326G>A	2.37:g.99984993G>A							p.K442K	NM_015904	NP_056988	O60841	IF2P_HUMAN			7	1510	+			442					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	ENST00000289371.6	37	c.1326G>A	CCDS42721.1																																																																																				0.343	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2		NM_015904		35	63	0	0	0	0.003755	0	35	63		
TBC1D8	11138	broad.mit.edu	37	2	101648738	101648738	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:101648738C>T	ENST00000376840.4	-	11	1882	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q	TBC1D8_ENST00000409318.1_Missense_Mutation_p.R643Q			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	628	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						ACCGATCACTCGGTGGTTGAA	0.532																																						uc010fiv.2		NaN																	0				ovary(3)	3						c.(1882-1884)CGA>CAA		TBC1 domain family, member 8							74.0	79.0	77.0					2																	101648738		2100	4242	6342	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101648738C>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1883G>A	2.37:g.101648738C>T	ENSP00000366036:p.Arg628Gln					TBC1D8_uc002tau.3_Missense_Mutation_p.R385Q	p.R628Q	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			11	2014	-			628			Rab-GAP TBC.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.1883G>A	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500552	0.96355	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.04156	3.69;3.69	5.02	5.02	0.67125	Rab-GAP/TBC domain (5);	0.000000	0.50627	D	0.000103	T	0.22044	0.0531	M	0.71036	2.16	0.50813	D	0.999894	D	0.89917	1.0	D	0.97110	1.0	T	0.00475	-1.1717	10	0.59425	D	0.04	-12.7647	18.3582	0.90365	0.0:1.0:0.0:0.0	.	628	O95759	TBCD8_HUMAN	Q	628;643	ENSP00000366036:R628Q;ENSP00000386856:R643Q	ENSP00000366036:R628Q	R	-	2	0	TBC1D8	101015170	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.604000	0.82830	2.320000	0.78422	0.655000	0.94253	CGA		0.532	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1		NM_007063		9	12	0	0	0	0.004482	0	9	12		
C2orf49	79074	broad.mit.edu	37	2	105959589	105959589	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:105959589C>T	ENST00000258457.2	+	3	780	c.551C>T	c.(550-552)tCa>tTa	p.S184L	C2orf49_ENST00000437250.2_Missense_Mutation_p.S180L|C2orf49_ENST00000410049.1_Missense_Mutation_p.S142L			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	184					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						AAAAGTCCTTCAGGCCCTGTG	0.443																																						uc002tcs.1		NaN																	0					0						c.(550-552)TCA>TTA		ashwin							103.0	99.0	101.0					2																	105959589		2203	4300	6503	SO:0001583	missense	79074					tRNA-splicing ligase complex		g.chr2:105959589C>T	BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"""ashwin"""					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.551C>T	2.37:g.105959589C>T	ENSP00000258457:p.Ser184Leu					C2orf49_uc010fjd.1_Missense_Mutation_p.S142L	p.S184L	NM_024093	NP_076998	Q9BVC5	ASHWN_HUMAN			3	583	+			184					B3KXN3|B4E2G9	Missense_Mutation	SNP	ENST00000258457.2	37	c.551C>T	CCDS2068.1	.	.	.	.	.	.	.	.	.	.	C	1.334	-0.595843	0.03771	.	.	ENSG00000135974	ENST00000258457;ENST00000437250;ENST00000410049	T;T;T	0.55760	1.14;0.5;0.5	5.62	-0.585	0.11698	.	1.005860	0.07995	N	0.987862	T	0.21186	0.0510	N	0.01800	-0.715	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23226	-1.0194	10	0.02654	T	1	0.0845	9.7119	0.40251	0.0:0.3571:0.0:0.6429	.	180;184	B4E2G9;Q9BVC5	.;ASHWN_HUMAN	L	184;180;142	ENSP00000258457:S184L;ENSP00000400208:S180L;ENSP00000386361:S142L	ENSP00000258457:S184L	S	+	2	0	C2orf49	105326021	0.000000	0.05858	0.041000	0.18516	0.907000	0.53573	-0.312000	0.08113	-0.021000	0.14009	-0.355000	0.07637	TCA		0.443	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253353.2		NM_024093		40	73	0	0	0	0.005524	0	40	73		
SLC5A7	60482	broad.mit.edu	37	2	108608600	108608600	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:108608600G>A	ENST00000264047.2	+	3	493	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	SLC5A7_ENST00000409059.1_Missense_Mutation_p.E73K|SLC5A7_ENST00000540517.1_5'UTR	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	73					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGCACAGCTGAAGCAGTTTA	0.448																																						uc002tdv.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(217-219)GAA>AAA		solute carrier family 5 (choline transporter),	Choline(DB00122)						185.0	157.0	166.0					2																	108608600		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108608600G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.217G>A	2.37:g.108608600G>A	ENSP00000264047:p.Glu73Lys					SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.E73K|SLC5A7_uc010ywn.1_5'UTR	p.E73K	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			3	493	+			73			Cytoplasmic (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.217G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	36	5.913937	0.97099	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.87729	-2.29;-2.29	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.94755	0.8307	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.93222	0.6609	10	0.40728	T	0.16	-3.4427	20.8598	0.99761	0.0:0.0:1.0:0.0	.	73	Q9GZV3	SC5A7_HUMAN	K	73	ENSP00000387346:E73K;ENSP00000264047:E73K	ENSP00000264047:E73K	E	+	1	0	SLC5A7	107975032	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	GAA		0.448	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1				34	53	0	0	0	0.003755	0	34	53		
RANBP2	5903	broad.mit.edu	37	2	109352069	109352069	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:109352069G>C	ENST00000283195.6	+	5	613	c.487G>C	c.(487-489)Gat>Cat	p.D163H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	163					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGTAAGACCTGATGACGTCCA	0.438																																						uc002tem.3		NaN																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(487-489)GAT>CAT		RAN binding protein 2							131.0	155.0	146.0					2																	109352069		1347	2274	3621	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109352069G>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.487G>C	2.37:g.109352069G>C	ENSP00000283195:p.Asp163His						p.D163H	NM_006267	NP_006258	P49792	RBP2_HUMAN			5	613	+			163					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.487G>C	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033581	0.75504	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.40225	1.04	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.56016	0.1957	L	0.59436	1.845	0.33097	D	0.538714	D	0.71674	0.998	P	0.61328	0.887	T	0.66925	-0.5800	9	0.62326	D	0.03	-28.8893	12.0446	0.53473	0.0798:0.0:0.9202:0.0	.	163	P49792	RBP2_HUMAN	H	163	ENSP00000283195:D163H	ENSP00000283195:D163H	D	+	1	0	RANBP2	108718501	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.912000	0.69948	2.486000	0.83907	0.555000	0.69702	GAT		0.438	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267		102	410	0	0	0	0.01441	0	102	410		
RANBP2	5903	broad.mit.edu	37	2	109383083	109383083	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:109383083G>A	ENST00000283195.6	+	20	6214	c.6088G>A	c.(6088-6090)Gaa>Aaa	p.E2030K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2030	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AACAGGAGAAGAAGATGAAAA	0.388																																						uc002tem.3		NaN																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(6088-6090)GAA>AAA		RAN binding protein 2							204.0	242.0	229.0					2																	109383083		2203	4298	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383083G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6088G>A	2.37:g.109383083G>A	ENSP00000283195:p.Glu2030Lys						p.E2030K	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	6214	+			2030			RanBD1 2.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.6088G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368768	0.82463	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.63744	-0.06	5.75	5.75	0.90469	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	D	0.86368	0.5916	H	0.95745	3.715	0.51482	D	0.99992	D	0.89917	1.0	D	0.91635	0.999	D	0.89741	0.3933	9	0.87932	D	0	-38.8368	19.9535	0.97211	0.0:0.0:1.0:0.0	.	2030	P49792	RBP2_HUMAN	K	1054;2030	ENSP00000283195:E2030K	ENSP00000283195:E2030K	E	+	1	0	RANBP2	108749515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.864000	0.99589	2.710000	0.92621	0.557000	0.71058	GAA		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267		134	630	0	0	0	0.01441	0	134	630		
SEPT10	151011	broad.mit.edu	37	2	110332307	110332307	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:110332307C>T	ENST00000397712.2	-	5	829	c.451G>A	c.(451-453)Gag>Aag	p.E151K	SEPT10_ENST00000334001.6_Missense_Mutation_p.E18K|SEPT10_ENST00000545389.1_Intron|SEPT10_ENST00000415095.1_Missense_Mutation_p.E151K|SEPT10_ENST00000437928.1_Missense_Mutation_p.E136K|SEPT10_ENST00000356688.4_Missense_Mutation_p.E151K|SEPT10_ENST00000397714.2_Missense_Mutation_p.E128K	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	151	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						AGATAGGCCTCAAACTGAGCA	0.378																																						uc002tew.2		NaN																	0					0						c.(451-453)GAG>AAG		septin 10 isoform 1							118.0	109.0	112.0					2																	110332307		1893	4122	6015	SO:0001583	missense	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110332307C>T	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.451G>A	2.37:g.110332307C>T	ENSP00000380824:p.Glu151Lys					SEPT10_uc010ywu.1_Intron|SEPT10_uc002tex.2_Missense_Mutation_p.E128K|SEPT10_uc002tey.2_Missense_Mutation_p.E151K|SEPT10_uc010ywv.1_Missense_Mutation_p.E17K|SEPT10_uc002tev.1_5'UTR|SEPT10_uc010fjo.2_RNA	p.E151K	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN			5	830	-			151					B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	ENST00000397712.2	37	c.451G>A	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332721	0.95733	.	.	ENSG00000186522	ENST00000352314;ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000415095	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000003	T	0.78780	0.4337	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.991	T	0.83021	-0.0167	10	0.87932	D	0	.	18.9555	0.92657	0.0:1.0:0.0:0.0	.	18;151;128;151	B7Z371;B5ME97;Q9P0V9-3;Q9P0V9	.;.;.;SEP10_HUMAN	K	109;151;151;128;18;136;151	ENSP00000349116:E151K;ENSP00000380824:E151K;ENSP00000380826:E128K;ENSP00000334234:E18K;ENSP00000407790:E136K;ENSP00000396728:E151K	ENSP00000334234:E18K	E	-	1	0	SEPT10	109689596	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.171000	0.77595	2.790000	0.95986	0.591000	0.81541	GAG		0.378	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1		NM_144710		49	67	0	0	0	0.01441	0	49	67		
ANAPC1	64682	broad.mit.edu	37	2	112550062	112550062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:112550062G>A	ENST00000341068.3	-	38	5361	c.4589C>T	c.(4588-4590)tCa>tTa	p.S1530L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1530					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAGGTTTCCTGAGCCAGCCAT	0.483																																						uc002thi.2		NaN																	0				skin(2)	2						c.(4588-4590)TCA>TTA		anaphase promoting complex subunit 1							47.0	45.0	46.0					2																	112550062		2201	4298	6499	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112550062G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.4589C>T	2.37:g.112550062G>A	ENSP00000339109:p.Ser1530Leu						p.S1530L	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			38	4836	-			1530			PC 4.		Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.4589C>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329597	0.60743	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.57	3.69	0.42338	.	0.000000	0.33382	U	0.004973	T	0.55986	0.1955	M	0.82132	2.575	0.58432	D	0.999999	P	0.43750	0.816	B	0.34590	0.186	T	0.65175	-0.6232	9	0.87932	D	0	-10.3387	12.8159	0.57665	0.0805:0.0:0.9195:0.0	.	1530	Q9H1A4	APC1_HUMAN	L	1530	.	ENSP00000339109:S1530L	S	-	2	0	ANAPC1	112266533	1.000000	0.71417	0.845000	0.33349	0.687000	0.40016	9.779000	0.99018	1.041000	0.40125	-0.237000	0.12165	TCA		0.483	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2		NM_022662		12	45	0	0	0	0.004007	0	12	45		
MERTK	10461	broad.mit.edu	37	2	112751899	112751899	+	Silent	SNP	G	G	A	rs374043440		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:112751899G>A	ENST00000295408.4	+	9	1625	c.1368G>A	c.(1366-1368)acG>acA	p.T456T	MERTK_ENST00000421804.2_Silent_p.T456T|MERTK_ENST00000409780.1_Silent_p.T280T			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	456	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACAATGCTACGTGCACAGTGA	0.522																																						uc002thk.1		NaN																	0				lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(1366-1368)ACG>ACA		MER receptor tyrosine kinase precursor		G		0,4406		0,0,2203	151.0	142.0	145.0		1368	-6.0	0.7	2		145	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	MERTK	NM_006343.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		456/1000	112751899	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112751899G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1368G>A	2.37:g.112751899G>A						MERTK_uc002thl.1_Silent_p.T280T	p.T456T	NM_006343	NP_006334	Q12866	MERTK_HUMAN			9	1490	+			456			Fibronectin type-III 2.|Extracellular (Potential).		Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.1368G>A	CCDS2094.1																																																																																				0.522	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2				71	109	0	0	0	0.01441	0	71	109		
FOXD4L1	200350	broad.mit.edu	37	2	114256945	114256945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:114256945G>A	ENST00000306507.5	+	1	285	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	38					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						agatgaagacgaggtggaaga	0.657																																						uc002tjw.3		NaN																	0					0						c.(112-114)GAG>AAG		forkhead box D4-like 1							31.0	49.0	43.0					2																	114256945		2188	4284	6472	SO:0001583	missense	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114256945G>A	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.112G>A	2.37:g.114256945G>A	ENSP00000302756:p.Glu38Lys						p.E38K	NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN			1	285	+			38					B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	c.112G>A	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	9.328	1.059906	0.19987	.	.	ENSG00000184492	ENST00000306507	D	0.94758	-3.51	2.67	0.58	0.17402	.	1.208730	0.06535	U	0.742256	D	0.89911	0.6852	L	0.29908	0.895	0.09310	N	1	D	0.65815	0.995	P	0.46629	0.522	T	0.81402	-0.0949	10	0.33940	T	0.23	.	3.2806	0.06913	0.1807:0.2789:0.5404:0.0	.	38	Q9NU39	FX4L1_HUMAN	K	38	ENSP00000302756:E38K	ENSP00000302756:E38K	E	+	1	0	FOXD4L1	113973415	0.997000	0.39634	0.003000	0.11579	0.076000	0.17211	8.589000	0.90817	-0.011000	0.14247	0.184000	0.17185	GAG		0.657	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1		NM_012184		48	63	0	0	0	0.01441	0	48	63		
EN1	2019	broad.mit.edu	37	2	119604241	119604241	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:119604241G>A	ENST00000295206.6	-	1	1013	c.503C>T	c.(502-504)tCg>tTg	p.S168L	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	168					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCACAGGAGCGAGGCAGCGCC	0.756																																						uc002tlm.2		NaN																	0				large_intestine(1)|lung(1)	2						c.(502-504)TCG>TTG		engrailed homeobox 1							9.0	11.0	10.0					2																	119604241		2155	4214	6369	SO:0001583	missense	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119604241G>A	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.503C>T	2.37:g.119604241G>A	ENSP00000295206:p.Ser168Leu						p.S168L	NM_001426	NP_001417	Q05925	HME1_HUMAN			1	1519	-			168					Q4ZG44	Missense_Mutation	SNP	ENST00000295206.6	37	c.503C>T	CCDS2123.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396397	0.25205	.	.	ENSG00000163064	ENST00000295206	D	0.91407	-2.84	2.84	2.84	0.33178	.	1.046110	0.07590	N	0.921736	D	0.85522	0.5716	L	0.53249	1.67	0.37727	D	0.925117	P	0.38370	0.628	B	0.20184	0.028	D	0.83835	0.0254	10	0.66056	D	0.02	-2.367	9.2401	0.37491	0.0:0.0:1.0:0.0	.	168	Q05925	HME1_HUMAN	L	168	ENSP00000295206:S168L	ENSP00000295206:S168L	S	-	2	0	EN1	119320711	0.972000	0.33761	0.822000	0.32727	0.039000	0.13416	2.616000	0.46376	1.591000	0.50007	0.400000	0.26472	TCG		0.756	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3				8	4	0	0	0	0.00308	0	8	4		
CNTNAP5	129684	broad.mit.edu	37	2	125504879	125504879	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:125504879G>T	ENST00000431078.1	+	14	2512	c.2148G>T	c.(2146-2148)ggG>ggT	p.G716G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	716	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCTCCTGGGGTCCAGCAGT	0.517																																						uc002tno.2		NaN																	0				ovary(10)	10						c.(2146-2148)GGG>GGT		contactin associated protein-like 5 precursor							119.0	118.0	118.0					2																	125504879		2055	4211	6266	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125504879G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2148G>T	2.37:g.125504879G>T						CNTNAP5_uc010flu.2_Silent_p.G717G	p.G716G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	14	2512	+			716			Extracellular (Potential).|Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2148G>T	CCDS46401.1																																																																																				0.517	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3				44	74	1	0	6.4771e-29	0.010771	6.86965e-29	44	74		
UGGT1	56886	broad.mit.edu	37	2	128867254	128867254	+	Missense_Mutation	SNP	C	C	T	rs267598867		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:128867254C>T	ENST00000259253.6	+	5	502	c.455C>T	c.(454-456)tCa>tTa	p.S152L	UGGT1_ENST00000375990.3_Missense_Mutation_p.S128L	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	152					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.S152L(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCGTTTTTTTCAGTGCATGGA	0.378																																						uc002tps.2		NaN																	1	Substitution - Missense(1)		cervix(1)	ovary(1)	1						c.(454-456)TCA>TTA		UDP-glucose ceramide glucosyltransferase-like 1							189.0	175.0	180.0					2																	128867254		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128867254C>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.455C>T	2.37:g.128867254C>T	ENSP00000259253:p.Ser152Leu					UGGT1_uc010fme.1_Missense_Mutation_p.S27L|UGGT1_uc002tpr.2_Missense_Mutation_p.S128L	p.S152L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			5	633	+			152					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.455C>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	C	9.326	1.059294	0.19987	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.07800	3.16;3.16	5.5	5.5	0.81552	.	0.274240	0.36482	N	0.002563	T	0.09158	0.0226	L	0.55481	1.735	0.34586	D	0.71499	B;B	0.21905	0.001;0.062	B;B	0.19148	0.004;0.024	T	0.11060	-1.0603	10	0.23891	T	0.37	.	10.0001	0.41924	0.0:0.848:0.0:0.152	.	128;152	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	L	128;152	ENSP00000365158:S128L;ENSP00000259253:S152L	ENSP00000259253:S152L	S	+	2	0	UGGT1	128583724	0.984000	0.35163	0.991000	0.47740	0.457000	0.32468	1.156000	0.31712	2.736000	0.93811	0.591000	0.81541	TCA		0.378	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2		NM_020120		51	77	0	0	0	0.01441	0	51	77		
HS6ST1	9394	broad.mit.edu	37	2	129026352	129026352	+	Missense_Mutation	SNP	G	G	A	rs267598868		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:129026352G>A	ENST00000259241.6	-	2	633	c.620C>T	c.(619-621)tCg>tTg	p.S207L		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	207					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CATATGCAACGACGTCTTCCA	0.632																																						uc002tpt.3		NaN																	0				pancreas(1)	1						c.(619-621)TCG>TTG		heparan sulfate 6-O-sulfotransferase 1							38.0	43.0	42.0					2																	129026352		2141	4248	6389	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026352G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.620C>T	2.37:g.129026352G>A	ENSP00000259241:p.Ser207Leu						p.S207L	NM_004807	NP_004798	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	654	-	Colorectal(110;0.1)		207			Lumenal (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.620C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392395	0.83011	.	.	ENSG00000136720	ENST00000259241	T	0.74842	-0.88	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.87569	0.6210	M	0.84846	2.72	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.89049	0.3454	9	.	.	.	.	17.9666	0.89101	0.0:0.0:1.0:0.0	.	207	O60243	H6ST1_HUMAN	L	207	ENSP00000259241:S207L	.	S	-	2	0	HS6ST1	128742822	1.000000	0.71417	0.950000	0.38849	0.471000	0.32888	7.570000	0.82390	2.235000	0.73313	0.462000	0.41574	TCG		0.632	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1		NM_004807		12	58	0	0	0	0.010729	0	12	58		
RAB3GAP1	22930	broad.mit.edu	37	2	135888197	135888197	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:135888197C>T	ENST00000264158.8	+	13	1185	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S337L|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S381L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	381					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTATCAGTTTCAAATATGGTA	0.338																																						uc002tuj.2		NaN																	0				ovary(1)|skin(1)	2						c.(1141-1143)TCA>TTA		RAB3 GTPase-activating protein							61.0	66.0	64.0					2																	135888197		2203	4299	6502	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135888197C>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1142C>T	2.37:g.135888197C>T	ENSP00000264158:p.Ser381Leu					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.S381L|RAB3GAP1_uc010fng.2_Missense_Mutation_p.S206L|RAB3GAP1_uc010fnh.1_RNA	p.S381L	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	13	1167	+			381					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.1142C>T	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900874	0.72754	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.70631	-0.5;-0.5;-0.5	5.29	5.29	0.74685	.	0.118598	0.56097	D	0.000026	T	0.63920	0.2552	L	0.40543	1.245	0.51767	D	0.99993	B;B	0.27853	0.191;0.044	B;B	0.23275	0.045;0.009	T	0.60182	-0.7313	10	0.33141	T	0.24	-12.1013	18.9357	0.92584	0.0:1.0:0.0:0.0	.	381;381	C9J837;Q15042	.;RB3GP_HUMAN	L	381;337;381	ENSP00000264158:S381L;ENSP00000444306:S337L;ENSP00000411418:S381L	ENSP00000264158:S381L	S	+	2	0	RAB3GAP1	135604667	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.163000	0.77524	2.476000	0.83614	0.591000	0.81541	TCA		0.338	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2		NM_012233		16	51	0	0	0	0.004007	0	16	51		
DARS	1615	broad.mit.edu	37	2	136743012	136743012	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:136743012C>T	ENST00000264161.4	-	1	242	c.27G>A	c.(25-27)aaG>aaA	p.K9K	AC093391.2_ENST00000419808.1_RNA|AC093391.2_ENST00000438432.1_RNA|AC093391.2_ENST00000446492.1_RNA|AC093391.2_ENST00000444406.1_RNA|DARS_ENST00000537273.1_5'UTR	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	9					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TCTCCTGACTCTTGCGGCTGG	0.687																																						uc002tux.1		NaN																	0				ovary(1)	1						c.(25-27)AAG>AAA		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						38.0	45.0	43.0					2																	136743012		2203	4299	6502	SO:0001819	synonymous_variant	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136743012C>T	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.27G>A	2.37:g.136743012C>T						DARS_uc010fnj.1_5'UTR	p.K9K	NM_001349	NP_001340	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	1	211	-			9					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Silent	SNP	ENST00000264161.4	37	c.27G>A	CCDS2180.1																																																																																				0.687	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5		NM_001349		5	1	0	0	0	0.013537	0	5	1		
LRP1B	53353	broad.mit.edu	37	2	141359032	141359032	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:141359032C>T	ENST00000389484.3	-	42	7947	c.6976G>A	c.(6976-6978)Gat>Aat	p.D2326N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2326					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGACATTCATCCAAGGCTAGC	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6976-6978)GAT>AAT		low density lipoprotein-related protein 1B							123.0	106.0	112.0					2																	141359032		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141359032C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6976G>A	2.37:g.141359032C>T	ENSP00000374135:p.Asp2326Asn	TSP Lung(27;0.18)					p.D2326N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	42	7948	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2326			Extracellular (Potential).|LDL-receptor class B 24.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6976G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249460	0.95305	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93133	-3.17	5.24	5.24	0.73138	Six-bladed beta-propeller, TolB-like (1);	0.131083	0.49916	D	0.000129	D	0.96651	0.8907	M	0.83223	2.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.94991	0.8134	10	0.19147	T	0.46	.	19.1745	0.93599	0.0:1.0:0.0:0.0	.	2326	Q9NZR2	LRP1B_HUMAN	N	2326;2264	ENSP00000374135:D2326N	ENSP00000374135:D2326N	D	-	1	0	LRP1B	141075502	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	7.729000	0.84864	2.597000	0.87782	0.561000	0.74099	GAT		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		38	10	0	0	0	0.005524	0	38	10		
MBD5	55777	broad.mit.edu	37	2	149226996	149226996	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:149226996C>G	ENST00000407073.1	+	9	2481	c.1484C>G	c.(1483-1485)tCa>tGa	p.S495*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.S495*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	495					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCACCAAGGTCAACAATAGGG	0.478																																						uc002twm.3		NaN																	0				skin(3)|ovary(2)	5						c.(1483-1485)TCA>TGA		methyl-CpG binding domain protein 5							83.0	85.0	85.0					2																	149226996		2203	4300	6503	SO:0001587	stop_gained	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149226996C>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.1484C>G	2.37:g.149226996C>G	ENSP00000386049:p.Ser495*					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Nonsense_Mutation_p.S495*|MBD5_uc002twn.1_5'Flank	p.S495*	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	2472	+			495					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Nonsense_Mutation	SNP	ENST00000407073.1	37	c.1484C>G	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.219889|13.219889	0.99728|0.99728	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|.	.|.	.|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.000000	.|0.45126	.|D	.|0.000392	T|.	0.77438|.	0.4130|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80327|.	-0.1429|.	3|.	.|0.66056	.|D	.|0.02	-5.0675|-5.0675	18.4913|18.4913	0.90849|0.90849	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	235|495	.|.	.|ENSP00000384672:S495X	Q|S	+|+	1|2	0|0	MBD5|MBD5	148943466|148943466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.384000|7.384000	0.79751|0.79751	2.445000|2.445000	0.82738|0.82738	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.478	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2				18	36	0	0	0	0.00499	0	18	36		
STAM2	10254	broad.mit.edu	37	2	153000393	153000393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:153000393C>G	ENST00000263904.4	-	7	1001	c.652G>C	c.(652-654)Gac>Cac	p.D218H	STAM2_ENST00000465460.1_5'Flank	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	218	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		AGTTCATTGTCCTCAACAGCT	0.318																																						uc002tyc.3		NaN																	0				ovary(1)	1						c.(652-654)GAC>CAC		signal transducing adaptor molecule 2							108.0	104.0	105.0					2																	153000393		2202	4296	6498	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:153000393C>G	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.652G>C	2.37:g.153000393C>G	ENSP00000263904:p.Asp218His					STAM2_uc010foa.1_Missense_Mutation_p.D218H|STAM2_uc002tyd.2_Missense_Mutation_p.D218H	p.D218H	NM_005843	NP_005834	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	7	1002	-			218			SH3.		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.652G>C	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745996	0.89663	.	.	ENSG00000115145	ENST00000263904	T	0.35605	1.3	5.34	5.34	0.76211	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.61964	-0.6954	10	0.56958	D	0.05	-17.1826	19.0503	0.93041	0.0:1.0:0.0:0.0	.	218;218	O75886-2;O75886	.;STAM2_HUMAN	H	218	ENSP00000263904:D218H	ENSP00000263904:D218H	D	-	1	0	STAM2	152708639	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.514000	0.84764	0.563000	0.77884	GAC		0.318	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2		NM_005843		19	37	0	0	0	0.008871	0	19	37		
LRP2	4036	broad.mit.edu	37	2	170148823	170148823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:170148823G>A	ENST00000263816.3	-	7	994	c.709C>T	c.(709-711)Caa>Taa	p.Q237*	LRP2_ENST00000443831.1_Nonsense_Mutation_p.Q237*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	237	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACCCAGTTTTGATAAATGCAT	0.453																																						uc002ues.2		NaN																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(709-711)CAA>TAA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						146.0	131.0	136.0					2																	170148823		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170148823G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.709C>T	2.37:g.170148823G>A	ENSP00000263816:p.Gln237*					LRP2_uc010zdf.1_Nonsense_Mutation_p.Q237*	p.Q237*	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	7	922	-			237			LDL-receptor class A 6.|Extracellular (Potential).		O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.709C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	37	6.115209	0.97296	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	.	.	.	5.56	5.56	0.83823	.	0.057959	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1182	0.93351	0.0:0.0:1.0:0.0	.	.	.	.	X	237	.	.	Q	-	1	0	LRP2	169857069	1.000000	0.71417	0.074000	0.20217	0.050000	0.14768	7.536000	0.82023	2.581000	0.87130	0.655000	0.94253	CAA		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		18	49	0	0	0	0.00499	0	18	49		
TLK1	9874	broad.mit.edu	37	2	171913057	171913057	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:171913057G>C	ENST00000431350.2	-	6	877	c.473C>G	c.(472-474)tCa>tGa	p.S158*	TLK1_ENST00000442919.2_Nonsense_Mutation_p.S110*|TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000434911.2_Nonsense_Mutation_p.S62*|TLK1_ENST00000360843.3_Nonsense_Mutation_p.S179*|TLK1_ENST00000521943.1_Nonsense_Mutation_p.S110*			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	158					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TACTGGACTTGAGCCATTTCC	0.373																																						uc002ugn.2		NaN																	0				central_nervous_system(1)	1						c.(472-474)TCA>TGA		tousled-like kinase 1 isoform 1							170.0	151.0	157.0					2																	171913057		2203	4300	6503	SO:0001587	stop_gained	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171913057G>C	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.473C>G	2.37:g.171913057G>C	ENSP00000411099:p.Ser158*					TLK1_uc002ugo.2_Nonsense_Mutation_p.S179*|TLK1_uc002ugp.2_Nonsense_Mutation_p.S110*|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Nonsense_Mutation_p.S62*|TLK1_uc002ugr.1_5'Flank	p.S158*	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			6	945	-			158					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Nonsense_Mutation	SNP	ENST00000431350.2	37	c.473C>G	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	38	6.797603	0.97845	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911;ENST00000453628	.	.	.	5.73	5.73	0.89815	.	0.124067	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-20.3221	19.506	0.95116	0.0:0.0:1.0:0.0	.	.	.	.	X	110;158;179;110;62;83	.	ENSP00000354089:S179X	S	-	2	0	TLK1	171621303	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.444000	0.97578	2.708000	0.92522	0.563000	0.77884	TCA		0.373	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1		NM_012290		25	54	0	0	0	0.00632	0	25	54		
METAP1D	254042	broad.mit.edu	37	2	172928454	172928454	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:172928454G>C	ENST00000315796.4	+	3	601	c.214G>C	c.(214-216)Gac>Cac	p.D72H	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	72					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						AAAGAAGCCAGACTATGTGAC	0.468																																						uc002uhk.2		NaN																	0					0						c.(214-216)GAC>CAC		methionine aminopeptidase 1D precursor							109.0	90.0	97.0					2																	172928454		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172928454G>C	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.214G>C	2.37:g.172928454G>C	ENSP00000315152:p.Asp72His					MAP1D_uc010zdw.1_5'UTR	p.D72H	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		3	287	+			72					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.214G>C	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656084	0.88056	.	.	ENSG00000172878	ENST00000315796	T	0.49720	0.77	5.67	5.67	0.87782	Peptidase M24, structural domain (1);	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.83223	2.63	0.80722	D	1	D	0.55172	0.97	P	0.54889	0.763	T	0.72357	-0.4318	10	0.87932	D	0	-7.6649	20.1421	0.98061	0.0:0.0:1.0:0.0	.	72	Q6UB28	AMP1D_HUMAN	H	72	ENSP00000315152:D72H	ENSP00000315152:D72H	D	+	1	0	METAP1D	172636700	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.982000	0.70532	2.836000	0.97738	0.655000	0.94253	GAC		0.468	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2		NM_199227		3	24	0	0	0	0.009096	0	3	24		
TTN	7273	broad.mit.edu	37	2	179604684	179604684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:179604684C>T	ENST00000591111.1	-	46	12549	c.12325G>A	c.(12325-12327)Gag>Aag	p.E4109K	TTN_ENST00000359218.5_Missense_Mutation_p.E4188K|TTN_ENST00000460472.2_Missense_Mutation_p.E4063K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4255K|TTN_ENST00000589042.1_Missense_Mutation_p.E4426K			Q8WZ42	TITIN_HUMAN	titin	0					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)			GCCTCGACCTCCACCTTTTCA	0.458																																						uc010zfh.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12763-12765)GAG>AAG		titin isoform novex-2							108.0	110.0	110.0					2																	179604684		1991	4145	6136	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604684C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12325G>A	2.37:g.179604684C>T	ENSP00000465570:p.Glu4109Lys					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4188K|TTN_uc010zfj.1_Missense_Mutation_p.E4063K|TTN_uc002umz.1_Intron	p.E4255K	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12987	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12763G>A		.	.	.	.	.	.	.	.	.	.	C	12.36	1.913958	0.33815	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.73152	-0.62;-0.71;-0.72	5.38	5.38	0.77491	.	.	.	.	.	T	0.62258	0.2413	L	0.32530	0.975	0.26946	N	0.966133	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.09377	0.004;0.004;0.004	T	0.57871	-0.7736	9	0.87932	D	0	.	13.4398	0.61106	0.0:0.9225:0.0:0.0775	.	4063;4188;4255	D3DPF9;E7EQE6;E7ET18	.;.;.	K	4063;4255;4188;4063	ENSP00000434586:E4063K;ENSP00000340554:E4255K;ENSP00000352154:E4188K	ENSP00000340554:E4255K	E	-	1	0	TTN	179312929	0.988000	0.35896	1.000000	0.80357	0.428000	0.31595	2.064000	0.41432	2.530000	0.85305	0.655000	0.94253	GAG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		31	67	0	0	0	0.008361	0	31	67		
TTN	7273	broad.mit.edu	37	2	179606140	179606140	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:179606140G>C	ENST00000591111.1	-	46	11093	c.10869C>G	c.(10867-10869)ttC>ttG	p.F3623L	TTN_ENST00000359218.5_Missense_Mutation_p.F3702L|TTN_ENST00000460472.2_Missense_Mutation_p.F3577L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F3769L|TTN_ENST00000589042.1_Missense_Mutation_p.F3940L			Q8WZ42	TITIN_HUMAN	titin	13929	Ig-like 22.				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)			ACTCCTTAAGGAAGTGAGGAG	0.458																																						uc010zfh.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11305-11307)TTC>TTG		titin isoform novex-2							160.0	153.0	155.0					2																	179606140		1908	4134	6042	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606140G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10869C>G	2.37:g.179606140G>C	ENSP00000465570:p.Phe3623Leu					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.F3702L|TTN_uc010zfj.1_Missense_Mutation_p.F3577L|TTN_uc002umz.1_Intron	p.F3769L	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11531	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11307C>G		.	.	.	.	.	.	.	.	.	.	G	9.046	0.991008	0.18966	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.71461	-0.57;-0.57;-0.57	5.87	1.41	0.22369	.	.	.	.	.	D	0.83008	0.5161	M	0.86178	2.8	0.21950	N	0.999451	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.992;0.992;0.992	T	0.70687	-0.4803	9	0.87932	D	0	.	8.8377	0.35121	0.5688:0.0:0.4312:0.0	.	3577;3702;3769	D3DPF9;E7EQE6;E7ET18	.;.;.	L	3577;3769;3702;3577	ENSP00000434586:F3577L;ENSP00000340554:F3769L;ENSP00000352154:F3702L	ENSP00000340554:F3769L	F	-	3	2	TTN	179314385	0.929000	0.31497	0.996000	0.52242	0.374000	0.29953	1.173000	0.31920	0.291000	0.22468	-0.150000	0.13652	TTC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		61	126	0	0	0	0.01441	0	61	126		
TTN	7273	broad.mit.edu	37	2	179641337	179641337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:179641337G>A	ENST00000591111.1	-	28	5478	c.5254C>T	c.(5254-5256)Cgt>Tgt	p.R1752C	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R1706C|TTN_ENST00000460472.2_Missense_Mutation_p.R1706C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R1752C|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R1752C|TTN_ENST00000342175.6_Missense_Mutation_p.R1706C|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R1752C			Q8WZ42	TITIN_HUMAN	titin	12584	Ig-like 8.				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)			TTGATCATACGGAGCCTGTTG	0.483																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(5254-5256)CGT>TGT		titin isoform N2-A							69.0	62.0	64.0					2																	179641337		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641337G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5254C>T	2.37:g.179641337G>A	ENSP00000465570:p.Arg1752Cys					TTN_uc010zfh.1_Missense_Mutation_p.R1706C|TTN_uc010zfi.1_Missense_Mutation_p.R1706C|TTN_uc010zfj.1_Missense_Mutation_p.R1706C|TTN_uc002unb.2_Missense_Mutation_p.R1752C|uc002unc.1_5'Flank	p.R1752C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5478	-			1752					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5254C>T		.	.	.	.	.	.	.	.	.	.	G	9.288	1.049914	0.19827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80884	0.4709	M	0.75777	2.31	0.43259	D	0.995197	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	T	0.83249	-0.0054	9	0.87932	D	0	.	14.1576	0.65428	0.0:0.0:0.8495:0.1505	.	1706;1706;1706;1752;1752	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	1752;1706;1706;1706;1706;1752	ENSP00000343764:R1752C;ENSP00000434586:R1706C;ENSP00000340554:R1706C;ENSP00000352154:R1706C;ENSP00000354117:R1752C	ENSP00000340554:R1706C	R	-	1	0	TTN	179349582	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	6.389000	0.73199	2.363000	0.80096	0.561000	0.74099	CGT		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		25	41	0	0	0	0.00278	0	25	41		
SSFA2	6744	broad.mit.edu	37	2	182766801	182766801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:182766801C>T	ENST00000431877.2	+	8	1200	c.1021C>T	c.(1021-1023)Caa>Taa	p.Q341*	SSFA2_ENST00000428267.2_Nonsense_Mutation_p.Q188*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.Q341*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.Q341*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	341						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAAAAACGATCAAAAGTCTCA	0.358																																						uc002uoi.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(1021-1023)CAA>TAA		sperm specific antigen 2 isoform 1							46.0	50.0	48.0					2																	182766801		2199	4299	6498	SO:0001587	stop_gained	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182766801C>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1021C>T	2.37:g.182766801C>T	ENSP00000388731:p.Gln341*					SSFA2_uc002uoh.2_Nonsense_Mutation_p.Q341*|SSFA2_uc002uoj.2_Nonsense_Mutation_p.Q341*|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Nonsense_Mutation_p.Q188*|SSFA2_uc002uol.2_Nonsense_Mutation_p.Q188*	p.Q341*	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		8	1343	+			341					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Nonsense_Mutation	SNP	ENST00000431877.2	37	c.1021C>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111465	0.94339	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	.	.	.	5.51	5.51	0.81932	.	1.263770	0.05110	N	0.488691	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-0.1125	13.5134	0.61526	0.0:0.9189:0.0:0.0811	.	.	.	.	X	341;341;341;188	.	ENSP00000314669:Q341X	Q	+	1	0	SSFA2	182475046	0.876000	0.30132	0.971000	0.41717	0.977000	0.68977	3.225000	0.51246	2.755000	0.94549	0.650000	0.86243	CAA		0.358	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2		NM_006751		14	43	0	0	0	0.003163	0	14	43		
OSGEPL1	64172	broad.mit.edu	37	2	190619038	190619038	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:190619038C>T	ENST00000264151.5	-	4	745	c.643G>A	c.(643-645)Gag>Aag	p.E215K	OSGEPL1_ENST00000519810.1_Missense_Mutation_p.E215K|Y_RNA_ENST00000411317.1_RNA|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.E215K	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GTGGAGCACTCTGGATGTTTT	0.348																																						uc002uqz.1		NaN																	0					0						c.(643-645)GAG>AAG		O-sialoglycoprotein endopeptidase-like 1							38.0	36.0	37.0					2																	190619038		1834	4071	5905	SO:0001583	missense	64172				proteolysis|tRNA processing		metalloendopeptidase activity	g.chr2:190619038C>T	AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.643G>A	2.37:g.190619038C>T	ENSP00000264151:p.Glu215Lys					OSGEPL1_uc002ura.1_RNA	p.E215K	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)		4	1177	-			215						Missense_Mutation	SNP	ENST00000264151.5	37	c.643G>A	CCDS46472.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227847	0.58777	.	.	ENSG00000128694	ENST00000264151;ENST00000519810;ENST00000522700;ENST00000520350;ENST00000517895	T;T;T;D	0.99051	2.28;2.28;2.28;-5.37	5.34	5.34	0.76211	Peptidase M22, glycoprotease (1);	0.423266	0.27577	N	0.018751	D	0.97059	0.9039	L	0.43646	1.37	0.48632	D	0.99968	B	0.14438	0.01	B	0.20955	0.032	D	0.93324	0.6695	10	0.72032	D	0.01	-13.5493	9.504	0.39035	0.0:0.781:0.1445:0.0746	.	215	Q9H4B0	OSGP2_HUMAN	K	215;215;215;68;215	ENSP00000264151:E215K;ENSP00000428859:E215K;ENSP00000429697:E215K;ENSP00000430062:E68K	ENSP00000264151:E215K	E	-	1	0	OSGEPL1	190327283	0.852000	0.29690	1.000000	0.80357	0.992000	0.81027	1.584000	0.36589	2.937000	0.99478	0.650000	0.86243	GAG		0.348	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377257.1		NM_022353		8	27	0	0	0	0.00308	0	8	27		
GLS	2744	broad.mit.edu	37	2	191792056	191792056	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:191792056G>A	ENST00000320717.3	+	12	1531	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	GLS_ENST00000338435.4_Missense_Mutation_p.E425K|GLS_ENST00000409215.1_5'Flank|GLS_ENST00000409428.1_5'Flank|GLS_ENST00000409626.1_5'UTR	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	425					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	AGTGACTTGTGAATCAGCCAG	0.383																																						uc002usf.2		NaN																	0				ovary(1)|skin(1)	2						c.(1273-1275)GAA>AAA		glutaminase precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						111.0	105.0	107.0					2																	191792056		2203	4300	6503	SO:0001583	missense	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191792056G>A	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1273G>A	2.37:g.191792056G>A	ENSP00000317379:p.Glu425Lys					GLS_uc002use.2_Missense_Mutation_p.E425K|GLS_uc002usg.1_Missense_Mutation_p.E86K|GLS_uc002ush.2_Missense_Mutation_p.E86K|GLS_uc010zgi.1_5'UTR|GLS_uc010zgj.1_5'Flank	p.E425K	NM_014905	NP_055720	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		12	1537	+			425					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	c.1273G>A	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332407	0.95733	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.43294	0.95;0.95	5.62	5.62	0.85841	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	L	0.47716	1.5	0.80722	D	1	P;D;P;P	0.53885	0.925;0.963;0.925;0.908	P;P;P;P	0.59948	0.866;0.715;0.866;0.711	T	0.47636	-0.9102	10	0.37606	T	0.19	-26.8288	20.0303	0.97534	0.0:0.0:1.0:0.0	.	425;79;425;425	A8K132;Q68D38;O94925;O94925-3	.;.;GLSK_HUMAN;.	K	425	ENSP00000317379:E425K;ENSP00000340689:E425K	ENSP00000317379:E425K	E	+	1	0	GLS	191500301	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.768000	0.98965	2.794000	0.96219	0.650000	0.86243	GAA		0.383	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2				13	28	0	0	0	0.00499	0	13	28		
PLCL1	5334	broad.mit.edu	37	2	198950660	198950660	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:198950660G>A	ENST00000428675.1	+	2	2817	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E709K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	807	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CATTGGGGATGAGTTTATAGG	0.423																																						uc010fsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(2419-2421)GAG>AAG		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						191.0	176.0	181.0					2																	198950660		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950660G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2419G>A	2.37:g.198950660G>A	ENSP00000402861:p.Glu807Lys					PLCL1_uc002uuv.3_Missense_Mutation_p.E728K	p.E807K	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2710	+			807			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2419G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443277	0.83993	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.69685	-0.42;-0.42	5.5	5.5	0.81552	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.093695	0.47852	D	0.000215	T	0.75671	0.3881	L	0.42487	1.325	0.80722	D	1	D;D	0.61697	0.99;0.965	D;P	0.64321	0.924;0.854	T	0.71794	-0.4485	9	.	.	.	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	807;733	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	807;709	ENSP00000402861:E807K;ENSP00000414138:E709K	.	E	+	1	0	PLCL1	198658905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.643000	0.98464	2.861000	0.98227	0.655000	0.94253	GAG		0.423	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1		NM_006226		38	75	0	0	0	0.003755	0	38	75		
SPATS2L	26010	broad.mit.edu	37	2	201342726	201342726	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:201342726C>G	ENST00000358677.5	+	13	1896	c.1649C>G	c.(1648-1650)tCa>tGa	p.S550*	SPATS2L_ENST00000360760.5_Nonsense_Mutation_p.S481*|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000409151.1_Nonsense_Mutation_p.S558*|SPATS2L_ENST00000409385.1_Nonsense_Mutation_p.S490*|SPATS2L_ENST00000409755.3_Nonsense_Mutation_p.S580*|SPATS2L_ENST00000409718.1_Nonsense_Mutation_p.S550*|SPATS2L_ENST00000451764.2_Nonsense_Mutation_p.S550*|SPATS2L_ENST00000409988.3_Nonsense_Mutation_p.S550*|SPATS2L_ENST00000409140.3_Nonsense_Mutation_p.S550*	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	550						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						GCAGTTCTCTCAGTCCCGGCT	0.562																																						uc002uvn.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(1648-1650)TCA>TGA		SPATS2-like protein isoform a							32.0	33.0	33.0					2																	201342726		1968	4041	6009	SO:0001587	stop_gained	26010					cytoplasm|nucleolus		g.chr2:201342726C>G	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1649C>G	2.37:g.201342726C>G	ENSP00000351503:p.Ser550*					SPATS2L_uc010fst.2_Nonsense_Mutation_p.S550*|SPATS2L_uc002uvo.3_Nonsense_Mutation_p.S490*|SPATS2L_uc002uvp.3_Nonsense_Mutation_p.S550*|SPATS2L_uc002uvq.3_Nonsense_Mutation_p.S481*|SPATS2L_uc002uvr.3_Nonsense_Mutation_p.S550*|SPATS2L_uc010zhc.1_Nonsense_Mutation_p.S580*	p.S550*	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			13	2001	+			550					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Nonsense_Mutation	SNP	ENST00000358677.5	37	c.1649C>G	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	C	37	5.992412	0.97179	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000032	.	.	.	.	.	.	0.49483	D	0.999796	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.5842	18.0832	0.89449	0.0:1.0:0.0:0.0	.	.	.	.	X	550;550;550;490;550;481;550;580;558	.	ENSP00000351503:S550X	S	+	2	0	SPATS2L	201050971	0.998000	0.40836	0.975000	0.42487	0.892000	0.51952	4.816000	0.62642	2.941000	0.99782	0.655000	0.94253	TCA		0.562	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3		NM_015535		11	15	0	0	0	0.008291	0	11	15		
TMEM237	65062	broad.mit.edu	37	2	202494121	202494121	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:202494121C>G	ENST00000409883.2	-	9	817	c.701G>C	c.(700-702)gGa>gCa	p.G234A	TMEM237_ENST00000409444.2_Missense_Mutation_p.G226A|TMEM237_ENST00000466839.1_5'UTR	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	234					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						AGCCAAGAATCCATGAGAAAA	0.358																																						uc002uyh.1		NaN																	0					0						c.(700-702)GGA>GCA		amyotrophic lateral sclerosis 2 (juvenile)							68.0	69.0	69.0					2																	202494121		1959	4164	6123	SO:0001583	missense	65062					integral to membrane	protein binding	g.chr2:202494121C>G	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.701G>C	2.37:g.202494121C>G	ENSP00000386264:p.Gly234Ala					ALS2CR4_uc002uyg.1_Missense_Mutation_p.G226A|ALS2CR4_uc010zho.1_Missense_Mutation_p.G29A|ALS2CR4_uc010zhp.1_RNA	p.G234A	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN			10	802	-			258			Helical; (Potential).		B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	ENST00000409883.2	37	c.701G>C	CCDS46489.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136290	0.94517	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684;ENST00000409099	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79816	0.4511	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79300	-0.1860	9	0.72032	D	0.01	-10.7152	20.6593	0.99626	0.0:1.0:0.0:0.0	.	234;258	E9PAR8;Q96Q45	.;TM237_HUMAN	A	226;234;234;256;139	.	ENSP00000386949:G139A	G	-	2	0	TMEM237	202202366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.471000	0.80985	2.885000	0.99019	0.655000	0.94253	GGA		0.358	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1		NM_152388		6	4	0	0	0	0.001168	0	6	4		
NBEAL1	65065	broad.mit.edu	37	2	204055050	204055050	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:204055050G>C	ENST00000449802.1	+	45	7105	c.6772G>C	c.(6772-6774)Gaa>Caa	p.E2258Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2258	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGATGAGAAAGAAAGAAAAGC	0.353																																						uc002uzt.3		NaN																	0				ovary(1)|skin(1)	2						c.(6772-6774)GAA>CAA		neurobeachin-like 1 isoform 3							104.0	105.0	104.0					2																	204055050		1852	4092	5944	SO:0001583	missense	65065						binding	g.chr2:204055050G>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6772G>C	2.37:g.204055050G>C	ENSP00000399903:p.Glu2258Gln					NBEAL1_uc002uzs.3_Missense_Mutation_p.E968Q	p.E2258Q	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			45	7105	+			2258			BEACH.		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.6772G>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.857079	0.71834	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.80909	-1.43;-1.43	5.21	4.33	0.51752	BEACH domain (4);	0.048085	0.85682	D	0.000000	D	0.83115	0.5184	L	0.37561	1.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79317	-0.1853	10	0.19147	T	0.46	.	13.4767	0.61312	0.0767:0.0:0.9233:0.0	.	2258;2247	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	Q	2258;2258;273	ENSP00000399903:E2258Q;ENSP00000388466:E273Q	ENSP00000344985:E2258Q	E	+	1	0	NBEAL1	203763295	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	9.294000	0.96088	1.328000	0.45358	0.460000	0.39030	GAA		0.353	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4				34	83	0	0	0	0.003755	0	34	83		
PLEKHM3	389072	broad.mit.edu	37	2	208725884	208725884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:208725884C>T	ENST00000427836.2	-	7	2542	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.E685K	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	685					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTACAGATTTCACAGATGAAC	0.408																																						uc002vcl.2		NaN																	0				ovary(1)	1						c.(2053-2055)GAA>AAA		pleckstrin homology domain containing, family M,							153.0	145.0	148.0					2																	208725884		1911	4127	6038	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208725884C>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.2053G>A	2.37:g.208725884C>T	ENSP00000417003:p.Glu685Lys						p.E685K	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			7	2543	-			685			Phorbol-ester/DAG-type.		B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.2053G>A	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343399	0.95783	.	.	ENSG00000178385	ENST00000427836;ENST00000389247	D;D	0.85171	-1.95;-1.95	5.06	5.06	0.68205	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94099	0.7360	10	0.72032	D	0.01	.	18.9822	0.92758	0.0:1.0:0.0:0.0	.	685	Q6ZWE6	PKHM3_HUMAN	K	685	ENSP00000417003:E685K;ENSP00000373899:E685K	ENSP00000373899:E685K	E	-	1	0	PLEKHM3	208434129	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	2.763000	0.94921	0.655000	0.94253	GAA		0.408	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1		NM_001080475		88	41	0	0	0	0.01441	0	88	41		
PIKFYVE	200576	broad.mit.edu	37	2	209190606	209190606	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:209190606G>A	ENST00000264380.4	+	20	3229	c.3071G>A	c.(3070-3072)gGa>gAa	p.G1024E		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1024					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATGACACTGGATTATATGTT	0.443																																						uc002vcz.2		NaN																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(3070-3072)GGA>GAA		phosphatidylinositol-3-phosphate 5-kinase type							94.0	97.0	96.0					2																	209190606		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190606G>A	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3071G>A	2.37:g.209190606G>A	ENSP00000264380:p.Gly1024Glu					PIKFYVE_uc010fun.1_Missense_Mutation_p.G705E|PIKFYVE_uc002vcy.1_Missense_Mutation_p.G968E	p.G1024E	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			20	3229	+			1024					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3071G>A	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293659	0.60086	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.33216	1.42;1.56	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.37079	-0.9721	10	0.15499	T	0.54	-16.4138	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1024;968	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	E	1024;600;968	ENSP00000264380:G1024E;ENSP00000405736:G968E	ENSP00000264380:G1024E	G	+	2	0	PIKFYVE	208898851	1.000000	0.71417	0.820000	0.32676	0.129000	0.20672	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGA		0.443	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2		NM_015040		50	15	0	0	0	0.01441	0	50	15		
PIKFYVE	200576	broad.mit.edu	37	2	209190762	209190762	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:209190762C>G	ENST00000264380.4	+	20	3385	c.3227C>G	c.(3226-3228)tCt>tGt	p.S1076C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1076					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATGAGATGCTCTACCCGAGAT	0.423																																						uc002vcz.2		NaN																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(3226-3228)TCT>TGT		phosphatidylinositol-3-phosphate 5-kinase type							74.0	78.0	77.0					2																	209190762		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190762C>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3227C>G	2.37:g.209190762C>G	ENSP00000264380:p.Ser1076Cys					PIKFYVE_uc010fun.1_Missense_Mutation_p.S757C|PIKFYVE_uc002vcy.1_Missense_Mutation_p.S1020C	p.S1076C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			20	3385	+			1076					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3227C>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319740	0.81469	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.28454	1.61;1.77	6.17	6.17	0.99709	.	0.069018	0.64402	D	0.000017	T	0.27832	0.0685	N	0.19112	0.55	0.80722	D	1	P;P	0.51791	0.948;0.726	B;B	0.43155	0.41;0.319	T	0.01884	-1.1254	10	0.52906	T	0.07	-18.0891	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1076;1020	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	C	1076;652;1020	ENSP00000264380:S1076C;ENSP00000405736:S1020C	ENSP00000264380:S1076C	S	+	2	0	PIKFYVE	208899007	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.731000	0.84895	2.941000	0.99782	0.655000	0.94253	TCT		0.423	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2		NM_015040		27	50	0	0	0	0.00632	0	27	50		
SPAG16	79582	broad.mit.edu	37	2	214174842	214174842	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:214174842C>T	ENST00000331683.5	+	4	434	c.339C>T	c.(337-339)ctC>ctT	p.L113L	SPAG16_ENST00000413312.1_Silent_p.L82L|SPAG16_ENST00000272898.7_Silent_p.L113L|SPAG16_ENST00000447990.1_Silent_p.L113L|SPAG16_ENST00000432529.2_Silent_p.L113L|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000374309.3_Intron	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	113					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.L113L(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAGACTTTCTCTGCAATTTCT	0.318																																						uc002veq.2		NaN																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|skin(1)	2						c.(337-339)CTC>CTT		sperm associated antigen 16 isoform 1							124.0	132.0	129.0					2																	214174842		2203	4299	6502	SO:0001819	synonymous_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214174842C>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.339C>T	2.37:g.214174842C>T						SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Silent_p.L59L|SPAG16_uc010zjk.1_Intron|SPAG16_uc002veo.2_Silent_p.L113L|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Silent_p.L82L	p.L113L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	4	431	+		Renal(323;0.00461)	113					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	c.339C>T	CCDS2396.1																																																																																				0.318	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2		NM_024532		27	57	0	0	0	0.00632	0	27	57		
ABCA12	26154	broad.mit.edu	37	2	215813432	215813432	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:215813432G>A	ENST00000272895.7	-	47	7211	c.6992C>T	c.(6991-6993)tCa>tTa	p.S2331L	ABCA12_ENST00000389661.4_Missense_Mutation_p.S2013L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2331	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCCAACTAATGAGCTGTGAGA	0.418																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NaN																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(6991-6993)TCA>TTA		ATP-binding cassette, sub-family A, member 12							95.0	85.0	88.0					2																	215813432		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215813432G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6992C>T	2.37:g.215813432G>A	ENSP00000272895:p.Ser2331Leu					ABCA12_uc002vev.2_Missense_Mutation_p.S2013L|ABCA12_uc010zjn.1_Missense_Mutation_p.S1258L	p.S2331L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	47	7212	-		Renal(323;0.127)	2331			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.6992C>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488793	0.64074	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.94000	-3.33;-3.33	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.120922	0.37715	N	0.001976	D	0.94195	0.8137	L	0.39566	1.225	0.80722	D	1	P;P	0.47604	0.898;0.544	P;B	0.55577	0.779;0.17	D	0.94225	0.7471	10	0.54805	T	0.06	.	19.387	0.94560	0.0:0.0:1.0:0.0	.	2331;2013	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	L	2331;2013	ENSP00000272895:S2331L;ENSP00000374312:S2013L	ENSP00000272895:S2331L	S	-	2	0	ABCA12	215521677	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	4.253000	0.58791	2.572000	0.86782	0.655000	0.94253	TCA		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1		NM_173076		32	63	0	0	0	0.013726	0	32	63		
ABCA12	26154	broad.mit.edu	37	2	215852376	215852376	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:215852376G>A	ENST00000272895.7	-	27	4190	c.3971C>T	c.(3970-3972)tCt>tTt	p.S1324F	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1006F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1324					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTACTGGCAGATGGGTTGGT	0.408																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NaN																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(3970-3972)TCT>TTT		ATP-binding cassette, sub-family A, member 12							116.0	98.0	104.0					2																	215852376		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215852376G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3971C>T	2.37:g.215852376G>A	ENSP00000272895:p.Ser1324Phe					ABCA12_uc002vev.2_Missense_Mutation_p.S1006F|ABCA12_uc010zjn.1_Missense_Mutation_p.S251F	p.S1324F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	27	4191	-		Renal(323;0.127)	1324					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3971C>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305332	0.40795	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89485	-2.52;-2.51	5.26	5.26	0.73747	.	0.000000	0.53938	D	0.000047	D	0.85492	0.5709	M	0.66439	2.03	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.11329	0.003;0.006	T	0.78365	-0.2232	10	0.10377	T	0.69	.	11.4959	0.50408	0.086:0.0:0.914:0.0	.	1324;1006	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	F	1324;1006	ENSP00000272895:S1324F;ENSP00000374312:S1006F	ENSP00000272895:S1324F	S	-	2	0	ABCA12	215560621	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.958000	0.49145	2.464000	0.83262	0.561000	0.74099	TCT		0.408	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1		NM_173076		22	38	0	0	0	0.005443	0	22	38		
ATIC	471	broad.mit.edu	37	2	216200791	216200791	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:216200791G>A	ENST00000236959.9	+	11	1368	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	ATIC_ENST00000435675.1_Missense_Mutation_p.E347K|ATIC_ENST00000540518.1_Missense_Mutation_p.E289K	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	348					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	AGGATATGAAGAAGAAGCCTT	0.313			T	ALK	ALCL																																	uc002vex.3		NaN		Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29						c.(1042-1044)GAA>AAA		5-aminoimidazole-4-carboxamide ribonucleotide	Tetrahydrofolic acid(DB00116)						108.0	110.0	110.0					2																	216200791		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216200791G>A		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1042G>A	2.37:g.216200791G>A	ENSP00000236959:p.Glu348Lys					ATIC_uc010zjo.1_Missense_Mutation_p.E289K|ATIC_uc002vey.3_Missense_Mutation_p.E347K	p.E348K	NM_004044	NP_004035	P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	11	1216	+		Renal(323;0.229)	348					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.1042G>A	CCDS2398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.26|17.26	3.345466|3.345466	0.61073|0.61073	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675|ENST00000446622;ENST00000426233	T;T;T|.	0.77877|.	-1.13;-1.13;-1.13|.	5.61|5.61	3.82|3.82	0.43975|0.43975	AICAR transformylase domain (1);Cytidine deaminase-like (1);|.	0.271237|.	0.47093|.	N|.	0.000247|.	T|T	0.54029|0.54029	0.1833|0.1833	L|L	0.37750|0.37750	1.13|1.13	0.54753|0.54753	D|D	0.999981|0.999981	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.10450|.	0.002;0.005|.	T|T	0.46775|0.46775	-0.9167|-0.9167	10|5	0.52906|.	T|.	0.07|.	-17.3045|-17.3045	11.9903|11.9903	0.53171|0.53171	0.1418:0.0:0.8582:0.0|0.1418:0.0:0.8582:0.0	.|.	347;348|.	E9PBU3;P31939|.	.;PUR9_HUMAN|.	K|K	348;289;347|41;16	ENSP00000236959:E348K;ENSP00000440523:E289K;ENSP00000415935:E347K|.	ENSP00000236959:E348K|.	E|R	+|+	1|2	0|0	ATIC|ATIC	215909036|215909036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.196000|6.196000	0.72094|0.72094	0.846000|0.846000	0.35142|0.35142	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.313	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1		NM_004044		64	91	0	0	0	0.01441	0	64	91		
TTLL4	9654	broad.mit.edu	37	2	219602555	219602555	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:219602555C>T	ENST00000392102.1	+	3	496	c.156C>T	c.(154-156)atC>atT	p.I52I	TTLL4_ENST00000258398.4_Silent_p.I52I|TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Silent_p.I52I	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	52					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGAAGCCAATCTGGAAGCTGG	0.592																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2		NaN																	0				ovary(2)|skin(1)	3						c.(154-156)ATC>ATT		tubulin tyrosine ligase-like family, member 4							82.0	85.0	84.0					2																	219602555		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602555C>T		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.156C>T	2.37:g.219602555C>T						TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.2_Silent_p.I52I	p.I52I	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	526	+		Renal(207;0.0915)	52					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.156C>T	CCDS2422.1																																																																																				0.592	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1		NM_014640		30	99	0	0	0	0.007291	0	30	99		
ATG9A	79065	broad.mit.edu	37	2	220085580	220085580	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:220085580G>A	ENST00000409618.1	-	15	2842	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F	ATG9A_ENST00000361242.4_Silent_p.F801F|ABCB6_ENST00000439002.2_5'Flank|ATG9A_ENST00000396761.2_Silent_p.F801F|ATG9A_ENST00000409422.1_Silent_p.F740F|ABCB6_ENST00000265316.3_5'Flank			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	801					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCCGAGAGAAATGAGAGG	0.582																																						uc002vke.1		NaN																	0				skin(1)	1						c.(2401-2403)TTC>TTT		APG9 autophagy 9-like 1							38.0	40.0	39.0					2																	220085580		1926	4122	6048	SO:0001819	synonymous_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220085580G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.2403C>T	2.37:g.220085580G>A						ABCB6_uc002vkc.1_5'Flank|ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Silent_p.F801F	p.F801F	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	2589	-		Renal(207;0.0474)	801			Cytoplasmic (By similarity).		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	37	c.2403C>T	CCDS42820.1																																																																																				0.582	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1		NM_024085		15	49	0	0	0	0.00499	0	15	49		
SPEG	10290	broad.mit.edu	37	2	220309694	220309694	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:220309694C>T	ENST00000312358.7	+	3	758	c.626C>T	c.(625-627)cCg>cTg	p.P209L	SPEG_ENST00000396698.1_Missense_Mutation_p.P105L|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	209					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGCCGCCTCCCGGGCAGCCCA	0.716																																						uc010fwg.2		NaN																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(625-627)CCG>CTG		SPEG complex locus							15.0	20.0	18.0					2																	220309694		1956	4120	6076	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220309694C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.626C>T	2.37:g.220309694C>T	ENSP00000311684:p.Pro209Leu					SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR	p.P209L	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	3	626	+		Renal(207;0.0183)	209					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.626C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565404	0.45694	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000435853;ENST00000431523;ENST00000396698	T;T;T;T	0.66460	-0.21;0.57;0.59;-0.18	4.58	1.44	0.22558	.	0.000000	0.36932	U	0.002334	T	0.45196	0.1330	N	0.19112	0.55	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.16988	-1.0384	10	0.36615	T	0.2	.	6.606	0.22726	0.3128:0.6024:0.0:0.0848	.	209	Q15772	SPEG_HUMAN	L	209;209;118;115;105	ENSP00000311684:P209L;ENSP00000393134:P118L;ENSP00000410986:P115L;ENSP00000379926:P105L	ENSP00000265327:P209L	P	+	2	0	SPEG	220017938	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	1.347000	0.33975	0.328000	0.23435	0.442000	0.29010	CCG		0.716	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		NM_005876		5	12	0	0	0	0.001168	0	5	12		
SLC4A3	6508	broad.mit.edu	37	2	220494009	220494009	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:220494009G>A	ENST00000358055.3	+	4	873	c.361G>A	c.(361-363)Gag>Aag	p.E121K	SLC4A3_ENST00000373762.3_Missense_Mutation_p.E121K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E121K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E121K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E121K|SLC4A3_ENST00000497589.1_3'UTR|AC009955.8_ENST00000455896.1_RNA			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	121					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTCCCTCCGAGGGGACCCC	0.637																																						uc002vmp.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(361-363)GAG>AAG		solute carrier family 4, anion exchanger, member							21.0	25.0	24.0					2																	220494009		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220494009G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.361G>A	2.37:g.220494009G>A	ENSP00000350756:p.Glu121Lys					SLC4A3_uc002vmn.2_Missense_Mutation_p.E121K|SLC4A3_uc002vmo.3_Missense_Mutation_p.E121K|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	p.E121K	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	630	+		Renal(207;0.0183)	121			Cytoplasmic.		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.361G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961638	0.53400	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.01	5.01	0.66863	.	0.064435	0.64402	D	0.000009	T	0.20901	0.0503	L	0.40543	1.245	0.41414	D	0.987757	P;P	0.47302	0.628;0.893	B;B	0.34138	0.058;0.176	T	0.02925	-1.1093	10	0.38643	T	0.18	.	11.1507	0.48458	0.0841:0.0:0.9159:0.0	.	121;121	P48751;P48751-3	B3A3_HUMAN;.	K	121	ENSP00000350756:E121K;ENSP00000362865:E121K;ENSP00000273063:E121K;ENSP00000362867:E121K;ENSP00000314006:E121K	ENSP00000273063:E121K	E	+	1	0	SLC4A3	220202253	1.000000	0.71417	0.954000	0.39281	0.281000	0.26958	4.248000	0.58760	2.598000	0.87819	0.462000	0.41574	GAG		0.637	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1		NM_005070		13	18	0	0	0	0.013537	0	13	18		
PAX3	5077	broad.mit.edu	37	2	223096999	223096999	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:223096999G>A	ENST00000350526.4	-	5	726	c.590C>T	c.(589-591)tCa>tTa	p.S197L	PAX3_ENST00000344493.4_Missense_Mutation_p.S197L|PAX3_ENST00000392070.2_Missense_Mutation_p.S197L|PAX3_ENST00000392069.2_Missense_Mutation_p.S197L|PAX3_ENST00000336840.6_Missense_Mutation_p.S197L|PAX3_ENST00000409551.3_Missense_Mutation_p.S196L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	197					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGTGCTGAGGCTAAAAG	0.413			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2		NaN		Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	0				soft_tissue(761)|ovary(4)|skin(1)	766						c.(589-591)TCA>TTA		paired box 3 isoform PAX3							86.0	86.0	86.0					2																	223096999		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223096999G>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.590C>T	2.37:g.223096999G>A	ENSP00000343052:p.Ser197Leu					PAX3_uc002vmt.1_Missense_Mutation_p.S197L|PAX3_uc002vmy.1_Missense_Mutation_p.S196L|PAX3_uc002vmv.1_Missense_Mutation_p.S197L|PAX3_uc002vmw.1_Missense_Mutation_p.S197L|PAX3_uc002vmx.1_Missense_Mutation_p.S197L	p.S197L	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	956	-		Renal(207;0.0183)	197					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.590C>T	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616810	0.46736	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.94793	-3.5;-3.5;-3.49;-3.47;-3.52;-3.48	5.57	5.57	0.84162	.	0.722517	0.12437	N	0.469028	D	0.94634	0.8270	M	0.81497	2.545	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.0;0.001;0.002;0.002	D	0.90508	0.4479	10	0.22706	T	0.39	.	19.5583	0.95363	0.0:0.0:1.0:0.0	.	197;196;197;197;197	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	L	197;197;197;197;197;196	ENSP00000375921:S197L;ENSP00000342092:S197L;ENSP00000343052:S197L;ENSP00000375922:S197L;ENSP00000338767:S197L;ENSP00000386750:S196L	ENSP00000338767:S197L	S	-	2	0	PAX3	222805243	1.000000	0.71417	0.994000	0.49952	0.363000	0.29612	5.337000	0.65941	2.616000	0.88540	0.557000	0.71058	TCA		0.413	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1				20	118	0	0	0	0.007413	0	20	118		
IRS1	3667	broad.mit.edu	37	2	227662785	227662785	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:227662785C>T	ENST00000305123.5	-	1	1690	c.670G>A	c.(670-672)Gag>Aag	p.E224K	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	224	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGGCCCACCTCGATGAAGAAG	0.607											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002voh.3		NaN																	0				lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(670-672)GAG>AAG		insulin receptor substrate 1							77.0	85.0	83.0					2																	227662785		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662785C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.670G>A	2.37:g.227662785C>T	ENSP00000304895:p.Glu224Lys		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.E224K	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	722	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	224			IRS-type PTB.			Missense_Mutation	SNP	ENST00000305123.5	37	c.670G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188322	0.94923	.	.	ENSG00000169047	ENST00000305123	T	0.71103	-0.54	5.79	5.79	0.91817	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (4);	0.000000	0.85682	D	0.000000	D	0.87172	0.6111	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88285	0.2939	10	0.72032	D	0.01	-35.1499	20.0212	0.97504	0.0:1.0:0.0:0.0	.	224	P35568	IRS1_HUMAN	K	224	ENSP00000304895:E224K	ENSP00000304895:E224K	E	-	1	0	IRS1	227371029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.735000	0.93741	0.561000	0.74099	GAG		0.607	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3		NM_005544		19	27	0	0	0	0.007413	0	19	27		
UGT1A1	54658	broad.mit.edu	37	2	234669682	234669682	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:234669682C>G	ENST00000608383.1	+	1	749	c.749C>G	c.(748-750)tCt>tGt	p.S250C	UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.S250C|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.S250C|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	250					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CTATTGAGCTCTGCATCTGTC	0.468																																						uc002vvb.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(748-750)TCT>TGT		UDP glycosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						170.0	169.0	169.0					2																	234669682		2203	4300	6503	SO:0001583	missense	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669682C>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.749C>G	2.37:g.234669682C>G	ENSP00000476741:p.Ser250Cys					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.S250C	p.S250C	NM_000463	NP_000454	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	764	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	250					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	c.749C>G	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684257	0.47991	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.60672	0.17;0.17	5.55	-4.46	0.03536	.	.	.	.	.	T	0.57330	0.2046	L	0.41492	1.28	0.09310	N	1	D;B	0.69078	0.997;0.027	D;B	0.72075	0.976;0.033	T	0.51513	-0.8696	9	0.72032	D	0.01	.	2.1417	0.03777	0.5049:0.1449:0.085:0.2652	.	250;250	A6NJC3;P22309	.;UD11_HUMAN	C	250	ENSP00000304845:S250C;ENSP00000353593:S250C	ENSP00000304845:S250C	S	+	2	0	UGT1A1	234334421	0.000000	0.05858	0.000000	0.03702	0.693000	0.40251	0.479000	0.22228	-0.618000	0.05656	0.655000	0.94253	TCT		0.468	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding					29	66	0	0	0	0.009535	0	29	66		
ANO7	50636	broad.mit.edu	37	2	242135138	242135138	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:242135138G>T	ENST00000274979.8	+	4	452	c.349G>T	c.(349-351)Gag>Tag	p.E117*	ANO7_ENST00000402430.3_Nonsense_Mutation_p.E116*|ANO7_ENST00000402530.3_Nonsense_Mutation_p.E116*	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	117					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTCGTTTGGGAGGAGGACCT	0.617																																						uc002wax.2		NaN																	0				pancreas(2)|central_nervous_system(1)	3						c.(349-351)GAG>TAG		transmembrane protein 16G isoform NGEP long							65.0	58.0	61.0					2																	242135138		2203	4300	6503	SO:0001587	stop_gained	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242135138G>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.349G>T	2.37:g.242135138G>T	ENSP00000274979:p.Glu117*					ANO7_uc002waw.2_Nonsense_Mutation_p.E116*	p.E117*	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			4	452	+			117			Cytoplasmic (Potential).		Q6IWH6	Nonsense_Mutation	SNP	ENST00000274979.8	37	c.349G>T	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753630	0.49362	.	.	ENSG00000146205	ENST00000274979;ENST00000402530;ENST00000402430	.	.	.	2.98	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	6.0187	0.19616	0.268:0.0:0.732:0.0	.	.	.	.	X	117;116;116	.	ENSP00000274979:E117X	E	+	1	0	ANO7	241783811	1.000000	0.71417	0.848000	0.33437	0.470000	0.32858	3.020000	0.49643	0.535000	0.28714	0.467000	0.42956	GAG		0.617	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1		NM_001001891		12	8	1	0	4.36969e-10	0.001855	4.54565e-10	12	8		
ANO7	50636	broad.mit.edu	37	2	242162689	242162689	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:242162689G>A	ENST00000274979.8	+	22	2675	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	ANO7_ENST00000402430.3_Missense_Mutation_p.E857K	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	858					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CATTGTGTTTGAGGTAGCCGA	0.577																																						uc002wax.2		NaN																	0				pancreas(2)|central_nervous_system(1)	3						c.(2572-2574)GAG>AAG		transmembrane protein 16G isoform NGEP long							177.0	147.0	157.0					2																	242162689		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242162689G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2572G>A	2.37:g.242162689G>A	ENSP00000274979:p.Glu858Lys						p.E858K	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			22	2675	+			858			Helical; (Potential).		Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.2572G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291171	0.80914	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.70516	-0.49;-0.49	3.38	3.38	0.38709	.	0.000000	0.64402	U	0.000003	D	0.87884	0.6290	H	0.96048	3.76	0.42638	D	0.993405	D	0.89917	1.0	D	0.85130	0.997	D	0.91115	0.4925	10	0.87932	D	0	.	12.2565	0.54627	0.0:0.1873:0.8127:0.0	.	858	Q6IWH7	ANO7_HUMAN	K	858;857	ENSP00000274979:E858K;ENSP00000385418:E857K	ENSP00000274979:E858K	E	+	1	0	ANO7	241811362	1.000000	0.71417	0.940000	0.37924	0.861000	0.49209	5.830000	0.69324	1.603000	0.50134	0.467000	0.42956	GAG		0.577	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1		NM_001001891		47	14	0	0	0	0.01441	0	47	14		
ANO7	50636	broad.mit.edu	37	2	242163167	242163167	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:242163167C>T	ENST00000274979.8	+	23	2768	c.2665C>T	c.(2665-2667)Ctg>Ttg	p.L889L		NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	889					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GGAGTACTACCTGGCTAAGCA	0.592																																						uc002wax.2		NaN																	0				pancreas(2)|central_nervous_system(1)	3						c.(2665-2667)CTG>TTG		transmembrane protein 16G isoform NGEP long							94.0	86.0	88.0					2																	242163167		2203	4300	6503	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242163167C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2665C>T	2.37:g.242163167C>T							p.L889L	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			23	2768	+			889			Cytoplasmic (Potential).		Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.2665C>T	CCDS33423.1																																																																																				0.592	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1		NM_001001891		13	21	0	0	0	0.001855	0	13	21		
RSPO4	343637	broad.mit.edu	37	20	947851	947851	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:947851G>A	ENST00000217260.4	-	3	471	c.375C>T	c.(373-375)ggC>ggT	p.G125G	RSPO4_ENST00000400634.2_Silent_p.G125G	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	125					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGGCCAAAGTGCCCGGCGGGC	0.652																																						uc002wej.2		NaN																	0					0						c.(373-375)GGC>GGT		R-spondin family, member 4 isoform 1 precursor							43.0	44.0	44.0					20																	947851		1955	4152	6107	SO:0001819	synonymous_variant	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:947851G>A	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.375C>T	20.37:g.947851G>A						RSPO4_uc002wek.2_Silent_p.G125G	p.G125G	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN			3	472	-			125			FU.		A2A2I6|Q9UGB2	Silent	SNP	ENST00000217260.4	37	c.375C>T	CCDS42846.1																																																																																				0.652	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3		XM_297816		9	27	0	0	0	0.008291	0	9	27		
SIRPG	55423	broad.mit.edu	37	20	1629746	1629746	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:1629746C>T	ENST00000303415.3	-	2	446	c.382G>A	c.(382-384)Gag>Aag	p.E128K	RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.E95K|SIRPG_ENST00000381583.2_Missense_Mutation_p.E128K|SIRPG_ENST00000216927.4_Missense_Mutation_p.E128K|SIRPG_ENST00000344103.4_Missense_Mutation_p.E128K	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	128	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCCACGTTCTCAGGGCTCCCT	0.488																																						uc002wfm.1		NaN																	0				ovary(1)	1						c.(382-384)GAG>AAG		signal-regulatory protein gamma isoform 1							228.0	198.0	209.0					20																	1629746		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629746C>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.382G>A	20.37:g.1629746C>T	ENSP00000305529:p.Glu128Lys					SIRPG_uc002wfn.1_Missense_Mutation_p.E128K|SIRPG_uc002wfo.1_Missense_Mutation_p.E128K	p.E128K	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			2	447	-			128			Extracellular (Potential).|Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.382G>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	12.48	1.950704	0.34377	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	1.93	0.966	0.19667	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	5.963880	0.00166	N	0.000001	T	0.56366	0.1980	L	0.46157	1.445	0.09310	N	1	B;B;B	0.18461	0.017;0.028;0.023	B;B;B	0.24701	0.015;0.01;0.055	T	0.37641	-0.9697	10	0.48119	T	0.1	.	4.0744	0.09897	0.0:0.7822:0.0:0.2178	.	128;128;128	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	K	95;128;128;128;128	ENSP00000370992:E95K;ENSP00000342759:E128K;ENSP00000305529:E128K;ENSP00000370995:E128K;ENSP00000216927:E128K	ENSP00000216927:E128K	E	-	1	0	SIRPG	1577746	0.000000	0.05858	0.001000	0.08648	0.680000	0.39746	0.086000	0.14935	0.370000	0.24538	0.195000	0.17529	GAG		0.488	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2		NM_018556		47	164	0	0	0	0.01441	0	47	164		
TGM6	343641	broad.mit.edu	37	20	2413155	2413155	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:2413155C>T	ENST00000202625.2	+	13	2048	c.1987C>T	c.(1987-1989)Cag>Tag	p.Q663*	TGM6_ENST00000381423.1_Missense_Mutation_p.S618L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	663					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCTGGAGCCTCAGGAGAGGGC	0.607																																						uc002wfy.1		NaN																	0				ovary(3)|skin(1)	4						c.(1987-1989)CAG>TAG		transglutaminase 6	L-Glutamine(DB00130)						93.0	79.0	84.0					20																	2413155		2203	4300	6503	SO:0001587	stop_gained	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2413155C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1987C>T	20.37:g.2413155C>T	ENSP00000202625:p.Gln663*					TGM6_uc010gal.1_Missense_Mutation_p.S618L	p.Q663*	NM_198994	NP_945345	O95932	TGM3L_HUMAN			13	2048	+			663					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Nonsense_Mutation	SNP	ENST00000202625.2	37	c.1987C>T	CCDS13025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.728036|5.728036	0.96856|0.96856	.|.	.|.	ENSG00000166948|ENSG00000166948	ENST00000202625|ENST00000381423	.|T	.|0.78595	.|-1.19	4.87|4.87	3.92|3.92	0.45320|0.45320	.|.	0.348039|.	0.31041|.	N|.	0.008374|.	.|T	.|0.70386	.|0.3218	.|.	.|.	.|.	0.20307|0.20307	N|N	0.999913|0.999913	.|B	.|0.16603	.|0.018	.|B	.|0.18561	.|0.022	.|T	.|0.63721	.|-0.6573	.|8	0.02654|0.66056	T|D	1|0.02	-18.5181|-18.5181	11.3762|11.3762	0.49730|0.49730	0.0:0.8174:0.1826:0.0|0.0:0.8174:0.1826:0.0	.|.	.|618	.|O95932-2	.|.	X|L	663|618	.|ENSP00000370831:S618L	ENSP00000202625:Q663X|ENSP00000370831:S618L	Q|S	+|+	1|2	0|0	TGM6|TGM6	2361155|2361155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.850000|0.850000	0.48378|0.48378	1.185000|1.185000	0.32065|0.32065	1.387000|1.387000	0.46486|0.46486	-0.165000|-0.165000	0.13383|0.13383	CAG|TCA		0.607	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2		NM_198994		18	55	0	0	0	0.008871	0	18	55		
PTPRA	5786	broad.mit.edu	37	20	2945569	2945569	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:2945569G>C	ENST00000216877.6	+	5	536	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	PTPRA_ENST00000399903.2_Missense_Mutation_p.E46Q|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000356147.3_Missense_Mutation_p.E46Q|PTPRA_ENST00000380393.3_Missense_Mutation_p.E46Q|PTPRA_ENST00000425918.2_Missense_Mutation_p.E57Q|PTPRA_ENST00000318266.5_Missense_Mutation_p.E46Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	46					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGTTAAAGAAGAGGCCAAAAC	0.388																																						uc010zqb.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(136-138)GAG>CAG		SubName: Full=cDNA FLJ60525, highly similar to Receptor-type tyrosine-protein phosphatase alpha (EC 3.1.3.48);							104.0	97.0	99.0					20																	2945569		2203	4300	6503	SO:0001583	missense	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2945569G>C		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.136G>C	20.37:g.2945569G>C	ENSP00000216877:p.Glu46Gln					PTPRA_uc002whj.2_Missense_Mutation_p.E46Q|PTPRA_uc010zqc.1_Intron|PTPRA_uc002whk.2_Missense_Mutation_p.E46Q|PTPRA_uc010zqd.1_Missense_Mutation_p.E57Q|PTPRA_uc002whl.2_Missense_Mutation_p.E46Q|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.E46Q	p.E46Q			P18433	PTPRA_HUMAN			5	529	+			46			Extracellular (Potential).		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.136G>C	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612129	0.46631	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000431048;ENST00000418580;ENST00000425918;ENST00000318266;ENST00000430705;ENST00000356147	T;T;T;T;T;T;T;T;T	0.54071	3.82;0.78;3.83;3.82;0.59;3.81;3.83;0.69;3.83	5.27	5.27	0.74061	.	0.827794	0.10163	U	0.708033	T	0.36276	0.0961	N	0.14661	0.345	0.80722	D	1	B;B	0.31100	0.308;0.076	B;B	0.26416	0.069;0.032	T	0.10590	-1.0623	10	0.18276	T	0.48	.	14.7477	0.69501	0.0:0.0:1.0:0.0	.	57;46	B7Z2A4;P18433-4	.;.	Q	46;46;46;46;46;46;57;46;46;46	ENSP00000369756:E46Q;ENSP00000414089:E46Q;ENSP00000216877:E46Q;ENSP00000382787:E46Q;ENSP00000390775:E46Q;ENSP00000393553:E57Q;ENSP00000314568:E46Q;ENSP00000394132:E46Q;ENSP00000348468:E46Q	ENSP00000216877:E46Q	E	+	1	0	PTPRA	2893569	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.243000	0.43115	2.632000	0.89209	0.650000	0.86243	GAG		0.388	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3				31	71	0	0	0	0.009535	0	31	71		
PTPRA	5786	broad.mit.edu	37	20	2968991	2968991	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:2968991G>A	ENST00000216877.6	+	8	982	c.582G>A	c.(580-582)caG>caA	p.Q194Q	PTPRA_ENST00000399903.2_Silent_p.Q203Q|PTPRA_ENST00000358719.4_Silent_p.Q59Q|PTPRA_ENST00000356147.3_Silent_p.Q194Q|PTPRA_ENST00000380393.3_Silent_p.Q203Q|PTPRA_ENST00000425918.2_Silent_p.Q214Q|PTPRA_ENST00000318266.5_Silent_p.Q194Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	203					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGAGCCCCAGAGTGTGCCAC	0.567																																						uc010zqd.1		NaN																	0		p.T214I(1)		upper_aerodigestive_tract(1)	1						c.(640-642)CAG>CAA		protein tyrosine phosphatase, receptor type, A							85.0	85.0	85.0					20																	2968991		2203	4300	6503	SO:0001819	synonymous_variant	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2968991G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.582G>A	20.37:g.2968991G>A						PTPRA_uc002whj.2_Silent_p.Q203Q|PTPRA_uc010zqc.1_Silent_p.Q88Q|PTPRA_uc002whk.2_Silent_p.Q194Q|PTPRA_uc002whl.2_Silent_p.Q194Q|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Silent_p.Q194Q|PTPRA_uc002who.2_5'UTR	p.Q214Q	NM_002836	NP_002827	P18433	PTPRA_HUMAN			8	959	+			203			Cytoplasmic (Potential).		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	ENST00000216877.6	37	c.642G>A	CCDS13039.1																																																																																				0.567	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3				22	82	0	0	0	0.00333	0	22	82		
ADAM33	80332	broad.mit.edu	37	20	3655675	3655675	+	Splice_Site	SNP	G	G	A	rs146682885		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:3655675G>A	ENST00000356518.2	-	4	573	c.332C>T	c.(331-333)aCg>aTg	p.T111M	ADAM33_ENST00000350009.2_Splice_Site_p.T111M|ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000379861.4_Splice_Site_p.T111M	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	111					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCATCTCACCGTGTGGTTGGG	0.622																																						uc002wit.2		NaN																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(331-333)ACG>ATG		ADAM metallopeptidase domain 33 isoform alpha							51.0	53.0	52.0					20																	3655675		2203	4300	6503	SO:0001630	splice_region_variant	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3655675G>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.333+1C>T	20.37:g.3655675G>A						ADAM33_uc002wir.1_Missense_Mutation_p.T111M|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.T111M|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.T110M|ADAM33_uc010zqg.1_Missense_Mutation_p.T110M|ADAM33_uc010zqh.1_Missense_Mutation_p.T111M	p.T111M	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			4	419	-			111			Extracellular (Potential).		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.332C>T	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	G	9.640	1.138842	0.21123	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000360630;ENST00000444535;ENST00000439201;ENST00000358035;ENST00000322570	T;T;T	0.06449	3.3;3.3;3.3	4.75	-2.04	0.07343	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.09113	0.0225	L	0.42245	1.32	0.43982	D	0.996674	D;P;P;B;P;P	0.69078	0.997;0.825;0.742;0.421;0.477;0.477	P;B;B;B;B;B	0.56088	0.791;0.259;0.14;0.088;0.143;0.143	T	0.35450	-0.9788	9	0.62326	D	0.03	.	3.573	0.07923	0.1291:0.2012:0.4619:0.2077	.	111;110;110;111;111;111	B4DTZ3;B4E1Y6;Q7Z7E1;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;.;ADA33_HUMAN;.	M	111;111;111;110;111;111;111;110	ENSP00000348912:T111M;ENSP00000369190:T111M;ENSP00000322550:T111M	ENSP00000318839:T110M	T	-	2	0	ADAM33	3603675	0.875000	0.30112	0.925000	0.36789	0.332000	0.28634	-0.333000	0.07894	-0.885000	0.03971	-2.925000	0.00089	ACG		0.622	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2		NM_025220	Missense_Mutation	10	17	0	0	0	0.008291	0	10	17		
PANK2	80025	broad.mit.edu	37	20	3891268	3891268	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:3891268G>A	ENST00000316562.4	+	3	1032	c.1026G>A	c.(1024-1026)ttG>ttA	p.L342L	PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000610179.1_Silent_p.L219L|PANK2_ENST00000497424.1_Silent_p.L51L	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	342					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAGATTGCTTGATCAAAGGAA	0.353																																						uc002wkc.2		NaN																	0					0						c.(1024-1026)TTG>TTA		pantothenate kinase 2 isoform 1 preproprotein							127.0	125.0	125.0					20																	3891268		2203	4300	6503	SO:0001819	synonymous_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3891268G>A	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1026G>A	20.37:g.3891268G>A						PANK2_uc002wkb.2_Silent_p.L51L|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Silent_p.L51L|PANK2_uc002wkf.2_5'UTR	p.L342L	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN			3	1032	+			342					B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	ENST00000316562.4	37	c.1026G>A	CCDS13071.2																																																																																				0.353	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2		NM_024960		71	116	0	0	0	0.01441	0	71	116		
ADRA1D	146	broad.mit.edu	37	20	4202235	4202235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:4202235C>T	ENST00000379453.4	-	2	1770	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	552				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GTGGCGCCCTCGGCCACCTCG	0.682																																						uc002wkr.2		NaN																	0					0						c.(1654-1656)GAG>AAG		alpha-1D-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						27.0	30.0	29.0					20																	4202235		2202	4297	6499	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202235C>T	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1654G>A	20.37:g.4202235C>T	ENSP00000368766:p.Glu552Lys						p.E552K	NM_000678	NP_000669	P25100	ADA1D_HUMAN			2	1709	-			552	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).		Cytoplasmic (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.1654G>A	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727834	0.48833	.	.	ENSG00000171873	ENST00000379453	T	0.62232	0.04	3.48	3.48	0.39840	.	151.176000	0.00166	U	0.000000	T	0.62575	0.2439	L	0.50333	1.59	0.21416	N	0.999695	P	0.50943	0.94	B	0.40636	0.335	T	0.59553	-0.7433	10	0.72032	D	0.01	.	12.8115	0.57641	0.0:1.0:0.0:0.0	.	552	P25100	ADA1D_HUMAN	K	552	ENSP00000368766:E552K	ENSP00000368766:E552K	E	-	1	0	ADRA1D	4150235	0.999000	0.42202	0.831000	0.32960	0.420000	0.31355	4.123000	0.57917	1.893000	0.54813	0.305000	0.20034	GAG		0.682	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2		NM_000678		7	34	0	0	0	0.001984	0	7	34		
GPCPD1	56261	broad.mit.edu	37	20	5556510	5556510	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:5556510G>C	ENST00000379019.4	-	9	1032	c.820C>G	c.(820-822)Ctt>Gtt	p.L274V	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	274					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATGATGGGAAGAGTAAGAATT	0.438																																						uc002wme.3		NaN																	0					0						c.(820-822)CTT>GTT		hypothetical protein LOC56261							115.0	104.0	108.0					20																	5556510		2203	4300	6503	SO:0001583	missense	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5556510G>C		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.820C>G	20.37:g.5556510G>C	ENSP00000368305:p.Leu274Val					GPCPD1_uc002wmd.3_Missense_Mutation_p.L93V	p.L274V	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN			9	1033	-			274					D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	c.820C>G	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922378	0.73213	.	.	ENSG00000125772	ENST00000379019	T	0.48522	0.81	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.44907	-0.9297	10	0.14656	T	0.56	-21.1373	19.6443	0.95770	0.0:0.0:1.0:0.0	.	274	Q9NPB8	GPCP1_HUMAN	V	274	ENSP00000368305:L274V	ENSP00000368305:L274V	L	-	1	0	GPCPD1	5504510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.847000	0.99503	2.634000	0.89283	0.655000	0.94253	CTT		0.438	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1		NM_019593		31	130	0	0	0	0.008361	0	31	130		
MCM8	84515	broad.mit.edu	37	20	5935298	5935298	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:5935298G>C	ENST00000378896.3	+	4	675	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	MCM8_ENST00000265187.4_Missense_Mutation_p.E100Q|MCM8_ENST00000378886.2_Missense_Mutation_p.E100Q|MCM8_ENST00000378883.1_Missense_Mutation_p.E100Q	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	100					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TCAAGCATTTGAAAAATTTTT	0.363																																						uc002wmi.2		NaN																	0				skin(1)	1						c.(298-300)GAA>CAA		minichromosome maintenance complex component 8							100.0	97.0	98.0					20																	5935298		2201	4300	6501	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5935298G>C	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.298G>C	20.37:g.5935298G>C	ENSP00000368174:p.Glu100Gln					MCM8_uc002wmj.2_Missense_Mutation_p.E100Q|MCM8_uc002wmk.2_Missense_Mutation_p.E100Q|MCM8_uc002wml.2_Missense_Mutation_p.E100Q|MCM8_uc010gbp.2_Missense_Mutation_p.E100Q	p.E100Q	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			4	675	+			100					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.298G>C	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591611	0.86953	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.37	5.37	0.77165	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	M	0.76574	2.34	0.80722	D	1	P;P;P;P	0.45531	0.589;0.454;0.86;0.656	B;B;P;B	0.47044	0.236;0.254;0.535;0.168	T	0.25745	-1.0123	10	0.20046	T	0.44	-27.6698	19.4763	0.94991	0.0:0.0:1.0:0.0	.	100;100;100;100	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Q	100	ENSP00000368174:E100Q;ENSP00000368161:E100Q;ENSP00000368164:E100Q;ENSP00000265187:E100Q	ENSP00000265187:E100Q	E	+	1	0	MCM8	5883298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.004000	0.70709	2.677000	0.91161	0.655000	0.94253	GAA		0.363	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1		NM_032485		17	73	0	0	0	0.00499	0	17	73		
JAG1	182	broad.mit.edu	37	20	10625512	10625512	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:10625512C>T	ENST00000254958.5	-	18	2858	c.2343G>A	c.(2341-2343)caG>caA	p.Q781Q	JAG1_ENST00000423891.2_Splice_Site_p.Q622Q|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	781					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GACACTCACTCTGAGCACAGA	0.592									Alagille Syndrome																													uc002wnw.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2341-2343)CAG>CAA		jagged 1 precursor							108.0	111.0	110.0					20																	10625512		2203	4300	6503	SO:0001630	splice_region_variant	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10625512C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2344+1G>A	20.37:g.10625512C>T						JAG1_uc010gcd.1_Silent_p.Q339Q	p.Q781Q	NM_000214	NP_000205	P78504	JAG1_HUMAN			18	2859	-			781			Extracellular (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.2343G>A	CCDS13112.1																																																																																				0.592	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000214	Silent	50	96	0	0	0	0.01441	0	50	96		
TASP1	55617	broad.mit.edu	37	20	13550189	13550189	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:13550189C>T	ENST00000337743.4	-	7	653	c.533G>A	c.(532-534)gGa>gAa	p.G178E	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	178					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGAGGGTATTCCATGATCTAC	0.333																																						uc002woi.2		NaN																	0					0						c.(532-534)GGA>GAA		taspase 1 precursor							99.0	102.0	101.0					20																	13550189		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13550189C>T	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.533G>A	20.37:g.13550189C>T	ENSP00000338624:p.Gly178Glu					TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.G155E|TASP1_uc010zrj.1_Intron	p.G178E	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			7	650	-			178					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.533G>A	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534911	0.85812	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.92299	-3.01;-3.01	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.96661	0.8910	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	D	0.96589	0.9436	10	0.72032	D	0.01	-16.2668	19.8331	0.96643	0.0:1.0:0.0:0.0	.	178;155	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	E	155;178;155	ENSP00000338624:G178E;ENSP00000400580:G155E	ENSP00000338624:G178E	G	-	2	0	TASP1	13498189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.704000	0.68347	2.779000	0.95612	0.650000	0.86243	GGA		0.333	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2		NM_017714		21	98	0	0	0	0.005443	0	21	98		
KIF16B	55614	broad.mit.edu	37	20	16362382	16362382	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:16362382C>T	ENST00000354981.2	-	18	1952	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	KIF16B_ENST00000355755.3_Missense_Mutation_p.E599K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E599K|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	599	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGTTGCCTCTCAAATTCAAGT	0.343																																						uc002wpg.1		NaN																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(1795-1797)GAG>AAG		kinesin-like motor protein C20orf23							131.0	125.0	127.0					20																	16362382		2202	4298	6500	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16362382C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1795G>A	20.37:g.16362382C>T	ENSP00000347076:p.Glu599Lys					KIF16B_uc002wpe.1_5'Flank|KIF16B_uc002wpf.1_5'Flank|KIF16B_uc010gch.1_Missense_Mutation_p.E599K|KIF16B_uc010gci.1_Missense_Mutation_p.E599K|KIF16B_uc010gcj.1_Missense_Mutation_p.E610K	p.E599K	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			18	1953	-			599			Glu-rich.|Potential.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1795G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802137	0.90538	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.72282	-0.64;-0.62;-0.62	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.85130	0.997;0.996;0.996;0.99	T	0.79455	-0.1796	10	0.29301	T	0.29	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	599;599;599;599	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	K	599	ENSP00000347076:E599K;ENSP00000347995:E599K;ENSP00000384164:E599K	ENSP00000347076:E599K	E	-	1	0	KIF16B	16310382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.797000	0.75150	2.865000	0.98341	0.655000	0.94253	GAG		0.343	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2		NM_017683		10	43	0	0	0	0.008291	0	10	43		
BFSP1	631	broad.mit.edu	37	20	17479526	17479526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:17479526G>A	ENST00000377873.3	-	6	934	c.895C>T	c.(895-897)Cag>Tag	p.Q299*	BFSP1_ENST00000536626.1_Nonsense_Mutation_p.Q160*|BFSP1_ENST00000544874.1_Nonsense_Mutation_p.Q160*|BFSP1_ENST00000377868.2_Nonsense_Mutation_p.Q174*	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	299	Coil 2.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AGGGTTTGCTGGGCGACCGCC	0.547																																						uc002wpo.2		NaN																	0				central_nervous_system(1)	1						c.(895-897)CAG>TAG		filensin isoform 1							104.0	81.0	89.0					20																	17479526		2203	4300	6503	SO:0001587	stop_gained	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17479526G>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.895C>T	20.37:g.17479526G>A	ENSP00000367104:p.Gln299*					BFSP1_uc002wpp.2_Nonsense_Mutation_p.Q174*|BFSP1_uc010zrn.1_Nonsense_Mutation_p.Q160*|BFSP1_uc010zro.1_Nonsense_Mutation_p.Q160*	p.Q299*	NM_001195	NP_001186	Q12934	BFSP1_HUMAN			6	934	-			299			Rod.|Coil 2.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Nonsense_Mutation	SNP	ENST00000377873.3	37	c.895C>T	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	G	37	6.403076	0.97537	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	.	.	.	6.07	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-29.5586	16.1962	0.82025	0.0:0.1333:0.8667:0.0	.	.	.	.	X	299;174;160;160	.	ENSP00000367099:Q174X	Q	-	1	0	BFSP1	17427526	1.000000	0.71417	0.989000	0.46669	0.897000	0.52465	7.150000	0.77403	1.562000	0.49601	0.655000	0.94253	CAG		0.547	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6		NM_001195		19	24	0	0	0	0.007413	0	19	24		
SNX5	27131	broad.mit.edu	37	20	17950541	17950541	+	5'Flank	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:17950541C>G	ENST00000377768.3	-	0	0				SNX5_ENST00000606602.1_5'Flank|SNX5_ENST00000377759.4_5'Flank|SNX5_ENST00000606557.1_5'Flank|MGME1_ENST00000377704.4_Silent_p.L13L|MGME1_ENST00000377709.1_Silent_p.L13L|MGME1_ENST00000377710.5_Silent_p.L13L|SNX5_ENST00000481323.1_5'Flank|SNX5_ENST00000486039.1_5'Flank	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5						intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						GCAGGCAGCTCAGGAGTTCAA	0.408																																						uc002wqh.2		NaN																	0					0						c.(37-39)CTC>CTG		hypothetical protein LOC92667							58.0	59.0	59.0					20																	17950541		2203	4300	6503	SO:0001631	upstream_gene_variant	92667							g.chr20:17950541C>G	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953		20.37:g.17950541C>G	Exception_encountered					C20orf72_uc010gco.2_RNA|C20orf72_uc010gcp.2_5'Flank|SNX5_uc002wqc.2_5'Flank|SNX5_uc002wqd.2_5'Flank|SNX5_uc002wqe.2_5'Flank|SNX5_uc010zrt.1_5'Flank|SNX5_uc010gcn.1_5'Flank	p.L13L	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN			2	121	+			13					B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Silent	SNP	ENST00000377768.3	37	c.39C>G	CCDS13130.1																																																																																				0.408	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4				20	83	0	0	0	0.012319	0	20	83		
CSRP2BP	57325	broad.mit.edu	37	20	18162455	18162455	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:18162455C>T	ENST00000435364.3	+	7	2114	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	CSRP2BP_ENST00000377681.3_Silent_p.S590S|CSRP2BP_ENST00000489634.2_Silent_p.S463S	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	591					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTATTGTCAGCCCTTATACCT	0.458																																						uc002wqj.2		NaN																	0				lung(3)|ovary(2)|skin(1)	6						c.(1771-1773)AGC>AGT		CSRP2 binding protein							153.0	141.0	145.0					20																	18162455		2203	4300	6503	SO:0001819	synonymous_variant	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18162455C>T	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1773C>T	20.37:g.18162455C>T						CSRP2BP_uc002wqk.2_Silent_p.S463S|CSRP2BP_uc010zru.1_Silent_p.S462S	p.S591S	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			8	2395	+			591					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	ENST00000435364.3	37	c.1773C>T	CCDS13133.1																																																																																				0.458	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5		NM_020536		20	114	0	0	0	0.007413	0	20	114		
SLC24A3	57419	broad.mit.edu	37	20	19565642	19565642	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:19565642G>A	ENST00000328041.6	+	5	648	c.451G>A	c.(451-453)Ggg>Agg	p.G151R		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	151					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGATGTGGCTGGGGCCACATT	0.552																																						uc002wrl.2		NaN																	0				ovary(1)	1						c.(451-453)GGG>AGG		solute carrier family 24							94.0	83.0	87.0					20																	19565642		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19565642G>A	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.451G>A	20.37:g.19565642G>A	ENSP00000333519:p.Gly151Arg						p.G151R	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN			5	648	+			151			Cytoplasmic (Potential).|Alpha-1.		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.451G>A	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993940	0.93167	.	.	ENSG00000185052	ENST00000328041	T	0.73575	-0.76	5.19	5.19	0.71726	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.92231	0.7536	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95362	0.8456	9	.	.	.	.	16.2033	0.82103	0.0:0.0:1.0:0.0	.	151	Q9HC58	NCKX3_HUMAN	R	151	ENSP00000333519:G151R	.	G	+	1	0	SLC24A3	19513642	1.000000	0.71417	0.980000	0.43619	0.982000	0.71751	9.292000	0.96076	2.435000	0.82474	0.313000	0.20887	GGG		0.552	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4		NM_020689		16	54	0	0	0	0.00333	0	16	54		
PAX1	5075	broad.mit.edu	37	20	21687492	21687492	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:21687492G>A	ENST00000398485.2	+	2	757	c.703G>A	c.(703-705)Gag>Aag	p.E235K	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.E211K	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	235					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGACCGTACGAGGCAAGTAA	0.647																																						uc002wsj.2		NaN																	0				upper_aerodigestive_tract(1)|kidney(1)	2						c.(703-705)GAG>AAG		paired box 1							36.0	43.0	41.0					20																	21687492		2202	4300	6502	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687492G>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.703G>A	20.37:g.21687492G>A	ENSP00000381499:p.Glu235Lys					PAX1_uc010zsl.1_Missense_Mutation_p.E235K|PAX1_uc010zsm.1_Missense_Mutation_p.E211K	p.E235K	NM_006192	NP_006183	P15863	PAX1_HUMAN			2	757	+			235					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.703G>A	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381447	0.82792	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98264	-4.33;-4.83	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	M	0.75264	2.295	0.58432	D	0.999992	D;P;D	0.76494	0.974;0.856;0.999	P;B;P	0.58721	0.682;0.112;0.844	D	0.98468	1.0599	10	0.34782	T	0.22	.	17.5004	0.87730	0.0:0.0:1.0:0.0	.	211;141;235	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	K	235;211	ENSP00000381499:E235K;ENSP00000410355:E211K	ENSP00000381499:E235K	E	+	1	0	PAX1	21635492	1.000000	0.71417	0.954000	0.39281	0.837000	0.47467	6.558000	0.73942	2.423000	0.82170	0.462000	0.41574	GAG		0.647	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3				5	9	0	0	0	0.008291	0	5	9		
CST9L	128821	broad.mit.edu	37	20	23549008	23549008	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:23549008T>C	ENST00000376979.3	-	1	378	c.80A>G	c.(79-81)tAt>tGt	p.Y27C		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	27						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ATGCCAGGCATAGATCAGCAG	0.567																																						uc002wtk.3		NaN																	0					0						c.(79-81)TAT>TGT		cystatin 9-like precursor							129.0	111.0	117.0					20																	23549008		2203	4300	6503	SO:0001583	missense	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23549008T>C		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.80A>G	20.37:g.23549008T>C	ENSP00000366178:p.Tyr27Cys						p.Y27C	NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN			1	379	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		27					B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	c.80A>G	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.524649	0.27299	.	.	ENSG00000101435	ENST00000376979	T	0.13307	2.6	2.03	-0.68	0.11346	.	0.984368	0.08243	N	0.975855	T	0.08358	0.0208	N	0.08118	0	0.09310	N	1	D	0.58620	0.983	P	0.50231	0.635	T	0.13335	-1.0513	10	0.34782	T	0.22	.	1.7482	0.02967	0.2816:0.184:0.0:0.5344	.	27	Q9H4G1	CST9L_HUMAN	C	27	ENSP00000366178:Y27C	ENSP00000366178:Y27C	Y	-	2	0	CST9L	23497008	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-2.084000	0.01363	-0.194000	0.10399	0.260000	0.18958	TAT		0.567	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1		NM_080610		18	33	0	0	0	0.00499	0	18	33		
CST1	1469	broad.mit.edu	37	20	23728490	23728490	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:23728490C>G	ENST00000304749.2	-	3	459	c.389G>C	c.(388-390)aGa>aCa	p.R130T	CST1_ENST00000398402.1_Missense_Mutation_p.R130T	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	130					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CAGGGACCTTCTGTTCTCCCA	0.542																																						uc002wtp.2		NaN																	0				ovary(1)	1						c.(388-390)AGA>ACA		cystatin SN precursor							105.0	91.0	96.0					20																	23728490		2203	4300	6503	SO:0001583	missense	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23728490C>G	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.389G>C	20.37:g.23728490C>G	ENSP00000305731:p.Arg130Thr						p.R130T	NM_001898	NP_001889	P01037	CYTN_HUMAN			3	460	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		130					Q96LE6|Q9UCQ6	Missense_Mutation	SNP	ENST00000304749.2	37	c.389G>C	CCDS13160.1	.	.	.	.	.	.	.	.	.	.	C	1.047	-0.677169	0.03378	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.12984	2.63;2.63	1.64	-0.907	0.10521	Proteinase inhibitor I25, cystatin (1);	1.144480	0.06519	N	0.739312	T	0.03305	0.0096	N	0.00890	-1.11	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.41556	-0.9502	10	0.11182	T	0.66	.	3.5356	0.07793	0.0:0.2993:0.4372:0.2636	.	130	P01037	CYTN_HUMAN	T	130	ENSP00000305731:R130T;ENSP00000381439:R130T	ENSP00000305731:R130T	R	-	2	0	CST1	23676490	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.545000	0.00933	-0.186000	0.10533	0.298000	0.19748	AGA		0.542	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2		NM_001898		13	41	0	0	0	0.001855	0	13	41		
ACSS1	84532	broad.mit.edu	37	20	24994205	24994205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:24994205G>A	ENST00000323482.4	-	10	1625	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*	ACSS1_ENST00000432802.2_Nonsense_Mutation_p.R516*|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000537502.1_Nonsense_Mutation_p.R433*|ACSS1_ENST00000542618.1_Nonsense_Mutation_p.R395*	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	516					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCCACAAATCGCTGGTGGTCG	0.592																																						uc002wub.2		NaN																	0				ovary(1)|skin(1)	2						c.(1546-1548)CGA>TGA		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						43.0	41.0	42.0					20																	24994205		2203	4300	6503	SO:0001587	stop_gained	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24994205G>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1546C>T	20.37:g.24994205G>A	ENSP00000316924:p.Arg516*					ACSS1_uc002wuc.2_Nonsense_Mutation_p.R514*|ACSS1_uc010gdc.2_Nonsense_Mutation_p.R311*|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Nonsense_Mutation_p.R433*	p.R516*	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			10	2424	-			516					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Nonsense_Mutation	SNP	ENST00000323482.4	37	c.1546C>T	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	G	36	5.669144	0.96754	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000432802;ENST00000542618	.	.	.	5.45	1.78	0.24846	.	0.106535	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9655	14.5988	0.68424	0.0:0.0:0.5764:0.4236	.	.	.	.	X	516;311;433;516;395	.	ENSP00000316924:R516X	R	-	1	2	ACSS1	24942205	1.000000	0.71417	0.066000	0.19879	0.250000	0.25880	0.948000	0.29096	0.086000	0.17137	-0.274000	0.10170	CGA		0.592	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2		NM_032501		5	15	0	0	0	0.000602	0	5	15		
DEFB123	245936	broad.mit.edu	37	20	30037947	30037947	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30037947C>A	ENST00000376309.3	+	2	354	c.174C>A	c.(172-174)taC>taA	p.Y58*		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	58					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCCCAAGTACCAGCCAAAAG	0.423																																						uc002wvy.2		NaN																	0					0						c.(172-174)TAC>TAA		defensin, beta 123 precursor							96.0	96.0	96.0					20																	30037947		2203	4300	6503	SO:0001587	stop_gained	245936				defense response to bacterium	extracellular region		g.chr20:30037947C>A	AA933749	CCDS13180.1	20q11.1	2008-07-17			ENSG00000180424	ENSG00000180424		"""Defensins, beta"""	18103	protein-coding gene	gene with protein product	"""beta defensin 23"""					11854508	Standard	NM_153324		Approved	DEFB-23	uc002wvy.3	Q8N688	OTTHUMG00000032170	ENST00000376309.3:c.174C>A	20.37:g.30037947C>A	ENSP00000365486:p.Tyr58*						p.Y58*	NM_153324	NP_697019	Q8N688	DB123_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	265	+	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		58						Nonsense_Mutation	SNP	ENST00000376309.3	37	c.174C>A	CCDS13180.1	.	.	.	.	.	.	.	.	.	.	C	9.513	1.106389	0.20632	.	.	ENSG00000180424	ENST00000376309	.	.	.	4.52	1.59	0.23543	.	0.519448	0.16375	N	0.217149	.	.	.	.	.	.	0.38890	D	0.957094	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.8405	6.4643	0.21973	0.0:0.7029:0.0:0.297	.	.	.	.	X	58	.	ENSP00000365486:Y58X	Y	+	3	2	DEFB123	29501608	0.988000	0.35896	0.186000	0.23195	0.170000	0.22686	0.462000	0.21956	0.414000	0.25790	-0.140000	0.14226	TAC		0.423	DEFB123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078510.2		NM_153324		15	77	1	0	5.01169e-05	0.00499	5.11301e-05	15	77		
BCL2L1	598	broad.mit.edu	37	20	30309932	30309932	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30309932C>T	ENST00000307677.4	-	2	500	c.90G>A	c.(88-90)gtG>gtA	p.V30V	BCL2L1_ENST00000376055.4_Silent_p.V30V|BCL2L1_ENST00000420653.1_Silent_p.V30V|BCL2L1_ENST00000376062.2_Silent_p.V30V	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	30					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TGTTCTCTTCCACATCACTAA	0.527																																					Colon(51;693 1004 1401 20431 21026)	uc002wwl.2		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(88-90)GTG>GTA		BCL2-like 1 isoform 1							61.0	65.0	64.0					20																	30309932		2203	4300	6503	SO:0001819	synonymous_variant	598				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	g.chr20:30309932C>T	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.90G>A	20.37:g.30309932C>T						BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Silent_p.V30V|BCL2L1_uc002wwn.2_Silent_p.V30V|BCL2L1_uc002wwo.1_Silent_p.V30V	p.V30V	NM_138578	NP_612815	Q07817	B2CL1_HUMAN	Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		2	456	-	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		30					E1P5L6|Q5CZ89|Q5TE65|Q92976	Silent	SNP	ENST00000307677.4	37	c.90G>A	CCDS13189.1																																																																																				0.527	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1		NM_138578		61	77	0	0	0	0.01441	0	61	77		
FOXS1	2307	broad.mit.edu	37	20	30432733	30432733	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30432733C>T	ENST00000375978.3	-	1	687	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	205					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						ACGGGGAGCTCCCCTGGGCAT	0.612																																						uc002wwt.1		NaN																	0				ovary(1)	1						c.(613-615)GAG>AAG		forkhead box S1							54.0	51.0	52.0					20																	30432733		2203	4300	6503	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432733C>T	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.613G>A	20.37:g.30432733C>T	ENSP00000365145:p.Glu205Lys						p.E205K	NM_004118	NP_004109	O43638	FOXS1_HUMAN			1	688	-			205					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.613G>A	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700278	0.30142	.	.	ENSG00000179772	ENST00000375978	D	0.92595	-3.07	4.54	3.57	0.40892	.	0.567156	0.15174	N	0.276472	D	0.85195	0.5641	L	0.27053	0.805	0.31152	N	0.705354	B	0.17038	0.02	B	0.14578	0.011	T	0.75780	-0.3197	10	0.12103	T	0.63	.	13.1732	0.59611	0.0:0.8381:0.1619:0.0	.	205	O43638	FOXS1_HUMAN	K	205	ENSP00000365145:E205K	ENSP00000365145:E205K	E	-	1	0	FOXS1	29896394	0.003000	0.15002	0.990000	0.47175	0.216000	0.24613	1.305000	0.33493	1.086000	0.41228	0.462000	0.41574	GAG		0.612	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2		NM_004118		4	36	0	0	0	0.009096	0	4	36		
XKR7	343702	broad.mit.edu	37	20	30556321	30556321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30556321G>A	ENST00000562532.2	+	1	517	c.343G>A	c.(343-345)Gac>Aac	p.D115N		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	115						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTTCGTCTACGACTACTCGGA	0.642																																						uc002wxe.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(343-345)GAC>AAC		XK, Kell blood group complex subunit-related							39.0	31.0	34.0					20																	30556321		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30556321G>A	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.343G>A	20.37:g.30556321G>A	ENSP00000477059:p.Asp115Asn						p.D115N	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		1	517	+			115					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.343G>A	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755360	0.89843	.	.	ENSG00000101321	ENST00000217299	T	0.71461	-0.57	3.81	3.81	0.43845	.	0.308257	0.29233	N	0.012754	D	0.86560	0.5962	M	0.92367	3.3	0.53688	D	0.999977	D	0.89917	1.0	D	0.76071	0.987	D	0.89802	0.3976	10	0.87932	D	0	.	13.562	0.61795	0.0:0.0:1.0:0.0	.	115	Q5GH72	XKR7_HUMAN	N	115	ENSP00000217299:D115N	ENSP00000217299:D115N	D	+	1	0	XKR7	30019982	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	8.929000	0.92859	2.114000	0.64651	0.650000	0.86243	GAC		0.642	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3		NM_001011718		8	10	0	0	0	0.00308	0	8	10		
TM9SF4	9777	broad.mit.edu	37	20	30745699	30745699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30745699G>A	ENST00000398022.2	+	14	1667	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N	TM9SF4_ENST00000217315.5_Missense_Mutation_p.D461N	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	478						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCAGCCATATGACAACCCTGT	0.592																																						uc002wxj.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(1432-1434)GAC>AAC		transmembrane 9 superfamily protein member 4							133.0	124.0	127.0					20																	30745699		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30745699G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1432G>A	20.37:g.30745699G>A	ENSP00000381104:p.Asp478Asn					TM9SF4_uc010zts.1_Missense_Mutation_p.D385N|TM9SF4_uc002wxk.2_Missense_Mutation_p.D461N|TM9SF4_uc010gdz.2_Missense_Mutation_p.D357N	p.D478N	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		14	1667	+			478					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1432G>A	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	35	5.476398	0.96291	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.43294	0.95;0.95	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.54775	0.1879	L	0.39633	1.23	0.80722	D	1	P;P	0.40398	0.716;0.644	P;P	0.55824	0.785;0.526	T	0.56968	-0.7891	10	0.87932	D	0	-27.2558	18.4218	0.90594	0.0:0.0:1.0:0.0	.	385;478	B4DH88;Q92544	.;TM9S4_HUMAN	N	478;461	ENSP00000381104:D478N;ENSP00000217315:D461N	ENSP00000217315:D461N	D	+	1	0	TM9SF4	30209360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.463000	0.97652	2.572000	0.86782	0.655000	0.94253	GAC		0.592	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1		NM_014742		41	57	0	0	0	0.01441	0	41	57		
CDK5RAP1	51654	broad.mit.edu	37	20	31946862	31946862	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:31946862G>C	ENST00000357886.4	-	15	1946	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.S494C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.S507C|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.S584C			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	598					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GCAATATGCAGAAGAGTCCCT	0.517																																						uc010gek.2		NaN																	0				ovary(2)|skin(2)|lung(1)	5						c.(1792-1794)TCT>TGT		CDK5 regulatory subunit associated protein 1							129.0	116.0	120.0					20																	31946862		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31946862G>C	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1793C>G	20.37:g.31946862G>C	ENSP00000350558:p.Ser598Cys					CDK5RAP1_uc002wyy.2_Missense_Mutation_p.S494C|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.S584C|CDK5RAP1_uc002wza.2_Missense_Mutation_p.S583C|CDK5RAP1_uc010gel.2_Missense_Mutation_p.S493C|CDK5RAP1_uc010gem.2_Missense_Mutation_p.S507C|CDK5RAP1_uc002wzc.1_3'UTR|CDK5RAP1_uc002wzb.1_3'UTR	p.S598C	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN			15	1917	-			598					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.1793C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.826|4.826	0.153640|0.153640	0.09185|0.09185	.|.	.|.	ENSG00000101391|ENSG00000101391	ENST00000427097|ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351	.|.	.|.	.|.	5.2|5.2	2.17|2.17	0.27698|0.27698	.|.	.|1.102300	.|0.06670	.|N	.|0.765967	T|T	0.35335|0.35335	0.0928|0.0928	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999999|0.999999	.|P;B;B;B;B	.|0.43169	.|0.8;0.011;0.005;0.008;0.002	.|B;B;B;B;B	.|0.43478	.|0.421;0.006;0.006;0.015;0.009	T|T	0.33471|0.33471	-0.9867|-0.9867	5|9	.|0.62326	.|D	.|0.03	0.4704|0.4704	10.4622|10.4622	0.44585|0.44585	0.1531:0.0:0.8469:0.0|0.1531:0.0:0.8469:0.0	.|.	.|507;598;583;584;494	.|Q96SZ6-4;Q96SZ6;Q53H36;Q96SZ6-3;Q96SZ6-2	.|.;CK5P1_HUMAN;.;.;.	V|C	253|584;598;507;494;324	.|.	.|ENSP00000341840:S507C	L|S	-|-	1|2	2|0	CDK5RAP1|CDK5RAP1	31410523|31410523	0.009000|0.009000	0.17119|0.17119	0.006000|0.006000	0.13384|0.13384	0.018000|0.018000	0.09664|0.09664	1.757000|1.757000	0.38400|0.38400	0.425000|0.425000	0.26087|0.26087	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.517	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1		NM_016408		15	85	0	0	0	0.00245	0	15	85		
SNTA1	6640	broad.mit.edu	37	20	32005554	32005554	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:32005554C>T	ENST00000217381.2	-	3	943	c.672G>A	c.(670-672)aaG>aaA	p.K224K		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	224	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GGGTGCACCTCTTCGAGACAT	0.607																																						uc002wzd.1		NaN																	0				skin(1)	1						c.(670-672)AAG>AAA		acidic alpha 1 syntrophin							63.0	63.0	63.0					20																	32005554		2203	4300	6503	SO:0001819	synonymous_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32005554C>T	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.672G>A	20.37:g.32005554C>T						SNTA1_uc010zuf.1_Silent_p.K224K	p.K224K	NM_003098	NP_003089	Q13424	SNTA1_HUMAN			3	944	-			224			PH 1.		A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	37	c.672G>A	CCDS13220.1																																																																																				0.607	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2		NM_003098		22	47	0	0	0	0.00333	0	22	47		
C20orf144	128864	broad.mit.edu	37	20	32251342	32251342	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:32251342G>A	ENST00000375222.3	+	2	193	c.131G>A	c.(130-132)aGg>aAg	p.R44K	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000606525.1_5'Flank|NECAB3_ENST00000375238.4_Intron|ACTL10_ENST00000330271.4_5'Flank	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	44										lung(1)	1						CCCCAGACCAGGATCGTGCTG	0.726																																						uc002wzs.1		NaN																	0					0						c.(130-132)AGG>AAG		hypothetical protein LOC128864							13.0	15.0	15.0					20																	32251342		1843	3761	5604	SO:0001583	missense	128864							g.chr20:32251342G>A	AL121906	CCDS13223.1	20q11.22	2012-07-17			ENSG00000149609	ENSG00000149609			16137	protein-coding gene	gene with protein product	"""bcl-2-like protein from testis"""					11780052	Standard	NM_080825		Approved	dJ63M2.6, bclt	uc002wzs.2	Q9BQM9	OTTHUMG00000032263	ENST00000375222.3:c.131G>A	20.37:g.32251342G>A	ENSP00000364370:p.Arg44Lys					NECAB3_uc002wzl.2_5'Flank|NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron|C20orf134_uc002wzt.2_5'Flank	p.R44K	NM_080825	NP_543015	Q9BQM9	CT144_HUMAN			2	163	+			44					Q1AHR2	Missense_Mutation	SNP	ENST00000375222.3	37	c.131G>A	CCDS13223.1	.	.	.	.	.	.	.	.	.	.	G	9.790	1.177687	0.21787	.	.	ENSG00000149609	ENST00000375222	T	0.32988	1.43	4.08	2.98	0.34508	.	0.125201	0.36268	N	0.002699	T	0.11495	0.0280	N	0.04880	-0.145	0.23677	N	0.997136	B	0.10296	0.003	B	0.06405	0.002	T	0.29941	-0.9995	10	0.11182	T	0.66	-23.8311	5.7256	0.18010	0.8717:0.0:0.1283:0.0	.	44	Q9BQM9	CT144_HUMAN	K	44	ENSP00000364370:R44K	ENSP00000364370:R44K	R	+	2	0	C20orf144	31715003	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	1.818000	0.39012	0.737000	0.32582	-0.379000	0.06801	AGG		0.726	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078714.2		NM_080825		3	17	0	0	0	0.009096	0	3	17		
ITCH	83737	broad.mit.edu	37	20	33077105	33077105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33077105G>A	ENST00000262650.6	+	22	2387	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	ITCH_ENST00000535650.1_Missense_Mutation_p.E600K|ITCH_ENST00000374864.4_Missense_Mutation_p.E710K			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	751	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TCGAGGTGTTGAAGAACAGAC	0.348																																						uc010geu.1		NaN																	0				breast(4)|lung(1)|central_nervous_system(1)	6						c.(2251-2253)GAA>AAA		itchy homolog E3 ubiquitin protein ligase							98.0	95.0	96.0					20																	33077105		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33077105G>A	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2251G>A	20.37:g.33077105G>A	ENSP00000262650:p.Glu751Lys					ITCH_uc002xak.2_Missense_Mutation_p.E710K|ITCH_uc010zuj.1_Missense_Mutation_p.E600K	p.E751K	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			22	2443	+			751			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.2251G>A	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418724	0.96092	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.56941	0.43;0.43;0.43	5.43	5.43	0.79202	HECT (4);	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	N	0.17674	0.51	0.80722	D	1	D;P;B	0.59767	0.986;0.478;0.131	D;B;B	0.69824	0.966;0.204;0.282	T	0.58836	-0.7566	10	0.36615	T	0.2	.	19.1899	0.93660	0.0:0.0:1.0:0.0	.	662;751;710	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	K	710;600;751	ENSP00000363998:E710K;ENSP00000445608:E600K;ENSP00000262650:E751K	ENSP00000262650:E751K	E	+	1	0	ITCH	32540766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.596000	0.82721	2.692000	0.91855	0.591000	0.81541	GAA		0.348	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2				29	92	0	0	0	0.009535	0	29	92		
DYNLRB1	83658	broad.mit.edu	37	20	33114076	33114076	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33114076G>A	ENST00000357156.2	+	2	57	c.7G>A	c.(7-9)Gag>Aag	p.E3K	DYNLRB1_ENST00000374846.3_Missense_Mutation_p.E55K|Y_RNA_ENST00000383855.1_RNA|DYNLRB1_ENST00000300469.9_Missense_Mutation_p.E3K|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000417166.2_Missense_Mutation_p.E3K	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	3					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						CTGGCAGGCAGAGGTGGAGGA	0.547																																						uc002xal.2		NaN																	0					0						c.(7-9)GAG>AAG		Roadblock-1							73.0	66.0	69.0					20																	33114076		2203	4300	6503	SO:0001583	missense	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33114076G>A	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.7G>A	20.37:g.33114076G>A	ENSP00000349679:p.Glu3Lys					DYNLRB1_uc010zuk.1_Missense_Mutation_p.E3K|DYNLRB1_uc002xam.2_RNA|DYNLRB1_uc002xan.2_Splice_Site|DYNLRB1_uc002xao.2_RNA	p.E3K	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN			2	67	+			3					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	ENST00000357156.2	37	c.7G>A	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	G	36	5.678353	0.96764	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000300469;ENST00000374846	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.02	5.02	0.67125	.	0.094069	0.64402	D	0.000001	T	0.49779	0.1577	.	.	.	0.80722	D	1	P;D	0.53885	0.932;0.963	P;P	0.59825	0.708;0.864	T	0.52442	-0.8575	9	0.87932	D	0	-18.3456	18.4979	0.90872	0.0:0.0:1.0:0.0	.	3;3	B4DFR2;Q9NP97	.;DLRB1_HUMAN	K	3;3;3;55	ENSP00000349679:E3K;ENSP00000409090:E3K;ENSP00000300469:E3K;ENSP00000363979:E55K	ENSP00000300469:E3K	E	+	1	0	DYNLRB1	32577737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.255000	0.95524	2.761000	0.94854	0.655000	0.94253	GAG		0.547	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1		NM_014183		5	33	0	0	0	0.001168	0	5	33		
NCOA6	23054	broad.mit.edu	37	20	33346669	33346669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33346669C>T	ENST00000374796.2	-	7	3152	c.582G>A	c.(580-582)atG>atA	p.M194I	NCOA6_ENST00000359003.2_Missense_Mutation_p.M194I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	194	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGTGCCATCATGGAAGATG	0.478																																						uc002xav.2		NaN																	0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(580-582)ATG>ATA		nuclear receptor coactivator 6							101.0	99.0	100.0					20																	33346669		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33346669C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.582G>A	20.37:g.33346669C>T	ENSP00000363929:p.Met194Ile					NCOA6_uc002xaw.2_Missense_Mutation_p.M194I|NCOA6_uc010gew.1_Intron	p.M194I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			7	3153	-			194			TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.582G>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828800	0.50845	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.21734	1.99;1.99	5.94	2.76	0.32466	.	0.140381	0.52532	N	0.000073	T	0.14013	0.0339	L	0.44542	1.39	0.33857	D	0.633309	B	0.02656	0.0	B	0.06405	0.002	T	0.15206	-1.0445	10	0.18710	T	0.47	-0.8549	5.0017	0.14268	0.1231:0.6253:0.1191:0.1326	.	194	Q14686	NCOA6_HUMAN	I	194	ENSP00000363929:M194I;ENSP00000351894:M194I	ENSP00000351894:M194I	M	-	3	0	NCOA6	32810330	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.324000	0.33712	0.811000	0.34303	0.591000	0.81541	ATG		0.478	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071		20	90	0	0	0	0.010504	0	20	90		
GSS	2937	broad.mit.edu	37	20	33533875	33533875	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33533875G>A	ENST00000216951.2	-	3	254	c.156C>T	c.(154-156)ctC>ctT	p.L52L	GSS_ENST00000541098.1_5'UTR|GSS_ENST00000451957.2_Silent_p.L52L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	52					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GTGAGGGGAAGAGCGTGAATG	0.567																																						uc002xbg.2		NaN																	0				ovary(3)	3						c.(154-156)CTC>CTT		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						130.0	112.0	118.0					20																	33533875		2203	4300	6503	SO:0001819	synonymous_variant	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33533875G>A		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.156C>T	20.37:g.33533875G>A						GSS_uc010zun.1_5'UTR|GSS_uc010zuo.1_Silent_p.L52L|GSS_uc010zup.1_Intron|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR	p.L52L	NM_000178	NP_000169	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		3	236	-			52					B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	ENST00000216951.2	37	c.156C>T	CCDS13245.1																																																																																				0.567	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2				25	133	0	0	0	0.005443	0	25	133		
TRPC4AP	26133	broad.mit.edu	37	20	33591402	33591402	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33591402G>C	ENST00000252015.2	-	18	2156	c.2067C>G	c.(2065-2067)ctC>ctG	p.L689L	TRPC4AP_ENST00000451813.2_Silent_p.L681L|TRPC4AP_ENST00000539834.1_Silent_p.L291L|TRPC4AP_ENST00000432634.2_Silent_p.L650L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	689					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGCTGGTGTTGAGGCAGCTGA	0.662																																						uc002xbk.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(2065-2067)CTC>CTG		TRPC4-associated protein isoform a							37.0	32.0	34.0					20																	33591402		2203	4300	6503	SO:0001819	synonymous_variant	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33591402G>C	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.2067C>G	20.37:g.33591402G>C						TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Silent_p.L280L|TRPC4AP_uc002xbl.2_Silent_p.L681L|TRPC4AP_uc010zur.1_Silent_p.L650L	p.L689L	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		18	2101	-			689					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	c.2067C>G	CCDS13246.1																																																																																				0.662	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2		NM_015638		5	24	0	0	0	0.001168	0	5	24		
FAM83C	128876	broad.mit.edu	37	20	33872046	33872046	+	IGR	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33872046G>A	ENST00000374408.3	-	0	3145				FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.S82F|EIF6_ENST00000462894.1_5'UTR|EIF6_ENST00000374450.3_Silent_p.L42L|EIF6_ENST00000374436.3_Silent_p.L42L	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C											central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGGTATCGGAGAGCTCGCCCT	0.677																																						uc002xbv.1		NaN																	0				pancreas(1)	1						c.(124-126)CTC>CTT		eukaryotic translation initiation factor 6							73.0	73.0	73.0					20																	33872046		2203	4300	6503	SO:0001628	intergenic_variant	3692				mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	g.chr20:33872046G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332		20.37:g.33872046G>A						EIF6_uc002xbx.1_Silent_p.L42L|EIF6_uc002xbz.1_Missense_Mutation_p.S82F|EIF6_uc002xby.1_RNA	p.L42L	NM_181468	NP_852133	P56537	IF6_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	342	-			42					Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	c.126C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224532	0.79576	.	.	ENSG00000242372	ENST00000374443	.	.	.	5.26	-0.794	0.10918	.	.	.	.	.	T	0.42131	0.1189	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.30357	-0.9981	7	0.56958	D	0.05	-10.0888	5.5908	0.17299	0.2506:0.2637:0.4856:0.0	.	82	B7ZBG9	.	F	82	.	ENSP00000363566:S82F	S	-	2	0	EIF6	33335460	0.674000	0.27549	0.771000	0.31576	0.941000	0.58515	0.110000	0.15437	0.233000	0.21120	0.561000	0.74099	TCT		0.677	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3				14	56	0	0	0	0.003163	0	14	56		
FAM83C	128876	broad.mit.edu	37	20	33879833	33879833	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33879833C>T	ENST00000374408.3	-	1	371	c.275G>A	c.(274-276)aGc>aAc	p.S92N		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	92										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTGAGCCTCGCTGAGCTCAGG	0.662																																						uc010zux.1		NaN																	0				ovary(2)	2						c.(274-276)AGC>AAC		hypothetical protein LOC128876							37.0	41.0	40.0					20																	33879833		2203	4299	6502	SO:0001583	missense	128876							g.chr20:33879833C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.275G>A	20.37:g.33879833C>T	ENSP00000363529:p.Ser92Asn					FAM83C_uc002xcb.1_5'UTR	p.S92N	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	393	-			92					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.275G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	5.710	0.315552	0.10789	.	.	ENSG00000125998	ENST00000374408	T	0.12361	2.69	4.85	3.91	0.45181	.	0.677359	0.15347	N	0.267157	T	0.10121	0.0248	L	0.35542	1.07	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.30995	-0.9959	10	0.17369	T	0.5	.	9.2864	0.37760	0.0:0.7597:0.1567:0.0836	.	92	Q9BQN1	FA83C_HUMAN	N	92	ENSP00000363529:S92N	ENSP00000363529:S92N	S	-	2	0	FAM83C	33343247	0.000000	0.05858	0.188000	0.23233	0.298000	0.27526	0.498000	0.22530	1.414000	0.47017	0.462000	0.41574	AGC		0.662	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3				8	45	0	0	0	0.006214	0	8	45		
CEP250	11190	broad.mit.edu	37	20	34057761	34057761	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:34057761G>A	ENST00000397527.1	+	10	1618	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	CEP250_ENST00000397524.1_Missense_Mutation_p.E300K|CEP250_ENST00000342580.4_Missense_Mutation_p.E300K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	300					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAGCAAAATGAAGATTATGA	0.488																																						uc002xcm.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(898-900)GAA>AAA		centrosomal protein 2							104.0	94.0	97.0					20																	34057761		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34057761G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.898G>A	20.37:g.34057761G>A	ENSP00000380661:p.Glu300Lys					CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Missense_Mutation_p.E107K	p.E300K	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		11	1569	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		300			Potential.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.898G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491073	0.44249	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.50001	2.78;2.81;0.76;1.79	5.59	5.59	0.84812	.	3.424730	0.00987	N	0.003471	T	0.58750	0.2144	M	0.65975	2.015	0.42742	D	0.993749	B;B	0.26195	0.011;0.144	B;B	0.27380	0.01;0.079	T	0.41538	-0.9503	10	0.51188	T	0.08	.	17.7484	0.88427	0.0:0.0:1.0:0.0	.	300;300	A6PVI9;Q9BV73	.;CP250_HUMAN	K	300	ENSP00000380661:E300K;ENSP00000341541:E300K;ENSP00000380658:E300K;ENSP00000413827:E300K	ENSP00000341541:E300K	E	+	1	0	CEP250	33521175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.487000	0.45268	2.628000	0.89032	0.655000	0.94253	GAA		0.488	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7		NM_007186		34	57	0	0	0	0.004878	0	34	57		
RBL1	5933	broad.mit.edu	37	20	35627227	35627227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:35627227G>A	ENST00000373664.3	-	22	3208	c.3142C>T	c.(3142-3144)Caa>Taa	p.Q1048*		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	1048					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCATTTTCTTGACAGACGCGT	0.398																																						uc002xgi.2		NaN																	0				lung(5)|skin(3)|ovary(2)	10						c.(3142-3144)CAA>TAA		retinoblastoma-like protein 1 isoform a							206.0	167.0	180.0					20																	35627227		2203	4300	6503	SO:0001587	stop_gained	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35627227G>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.3142C>T	20.37:g.35627227G>A	ENSP00000362768:p.Gln1048*					RBL1_uc010zvt.1_RNA	p.Q1048*	NM_002895	NP_002886	P28749	RBL1_HUMAN			22	3221	-		Myeloproliferative disorder(115;0.00878)	1048					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Nonsense_Mutation	SNP	ENST00000373664.3	37	c.3142C>T	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	39	7.465327	0.98302	.	.	ENSG00000080839	ENST00000373664	.	.	.	4.94	4.94	0.65067	.	0.158936	0.43416	D	0.000575	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-13.9726	18.3628	0.90380	0.0:0.0:1.0:0.0	.	.	.	.	X	1048	.	ENSP00000362768:Q1048X	Q	-	1	0	RBL1	35060641	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	7.788000	0.85771	2.559000	0.86315	0.591000	0.81541	CAA		0.398	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2		NM_002895		59	85	0	0	0	0.01441	0	59	85		
FAM83D	81610	broad.mit.edu	37	20	37576568	37576568	+	Missense_Mutation	SNP	G	G	A	rs368793717		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:37576568G>A	ENST00000217429.4	+	3	832	c.791G>A	c.(790-792)gGa>gAa	p.G264E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	234					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GCAAGGTCAGGAACTAAGATT	0.438																																						uc002xjg.2		NaN																	0				ovary(3)	3						c.(790-792)GGA>GAA		hypothetical protein LOC81610		G	GLU/GLY	0,3914		0,0,1957	129.0	124.0	126.0		791	6.2	1.0	20		126	1,8275		0,1,4137	no	missense	FAM83D	NM_030919.2	98	0,1,6094	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	264/616	37576568	1,12189	1957	4138	6095	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37576568G>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.791G>A	20.37:g.37576568G>A	ENSP00000217429:p.Gly264Glu						p.G264E	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			3	832	+		Myeloproliferative disorder(115;0.00878)	234					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.791G>A	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516725	0.96402	0.0	1.21E-4	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.17370	2.28	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.52403	0.1732	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54563	-0.8275	10	0.59425	D	0.04	.	20.4702	0.99162	0.0:0.0:1.0:0.0	.	234	Q9H4H8	FA83D_HUMAN	E	264;218	ENSP00000217429:G264E	ENSP00000217429:G264E	G	+	2	0	FAM83D	37009982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.441000	0.97557	2.937000	0.99478	0.650000	0.86243	GGA		0.438	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1				34	125	0	0	0	0.003755	0	34	125		
FAM83D	81610	broad.mit.edu	37	20	37576605	37576605	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:37576605G>A	ENST00000217429.4	+	3	869	c.828G>A	c.(826-828)acG>acA	p.T276T		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	246					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AAAAGTTCACGTTGATTGATG	0.438																																						uc002xjg.2		NaN																	0				ovary(3)	3						c.(826-828)ACG>ACA		hypothetical protein LOC81610							111.0	106.0	107.0					20																	37576605		1967	4150	6117	SO:0001819	synonymous_variant	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37576605G>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.828G>A	20.37:g.37576605G>A							p.T276T	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			3	869	+		Myeloproliferative disorder(115;0.00878)	246					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Silent	SNP	ENST00000217429.4	37	c.828G>A	CCDS42872.1																																																																																				0.438	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1				19	108	0	0	0	0.006122	0	19	108		
EMILIN3	90187	broad.mit.edu	37	20	39990348	39990348	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:39990348C>T	ENST00000332312.3	-	4	2053	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	621						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CGTTCCCGCTCATCCAGGGAC	0.592																																						uc002xjy.1		NaN																	0				ovary(1)	1						c.(1861-1863)GAG>AAG		elastin microfibril interfacer 3							53.0	48.0	50.0					20																	39990348		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990348C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1861G>A	20.37:g.39990348C>T	ENSP00000332806:p.Glu621Lys						p.E621K	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	2085	-		Myeloproliferative disorder(115;0.00425)	621			Potential.		Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.1861G>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398193	0.83120	.	.	ENSG00000183798	ENST00000332312	T	0.80304	-1.36	4.71	4.71	0.59529	.	0.118480	0.56097	D	0.000039	D	0.88028	0.6327	L	0.61218	1.895	0.49389	D	0.99978	D	0.76494	0.999	D	0.80764	0.994	D	0.87752	0.2592	9	.	.	.	-23.9868	17.6651	0.88201	0.0:1.0:0.0:0.0	.	621	Q9NT22	EMIL3_HUMAN	K	621	ENSP00000332806:E621K	.	E	-	1	0	EMILIN3	39423762	0.969000	0.33509	0.997000	0.53966	0.931000	0.56810	2.744000	0.47450	2.138000	0.66242	0.561000	0.74099	GAG		0.592	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2		XM_029741		29	35	0	0	0	0.008361	0	29	35		
TOMM34	10953	broad.mit.edu	37	20	43571786	43571786	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:43571786C>T	ENST00000372813.3	-	7	1046	c.894G>A	c.(892-894)caG>caA	p.Q298Q	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	298					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				GCCGCAACTTCTGTGCAGGAC	0.507																																						uc002xmy.2		NaN																	0					0						c.(892-894)CAG>CAA		translocase of outer mitochondrial membrane 34							114.0	110.0	111.0					20																	43571786		2203	4300	6503	SO:0001819	synonymous_variant	10953				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	g.chr20:43571786C>T	U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.894G>A	20.37:g.43571786C>T						PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	p.Q298Q	NM_006809	NP_006800	Q15785	TOM34_HUMAN			7	1034	-		Myeloproliferative disorder(115;0.0122)	298					Q53GH9|Q6IBN7|Q9NTZ3	Silent	SNP	ENST00000372813.3	37	c.894G>A	CCDS13340.1																																																																																				0.507	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3		NM_006809		12	70	0	0	0	0.003163	0	12	70		
STK4	6789	broad.mit.edu	37	20	43623860	43623860	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:43623860G>A	ENST00000372806.3	+	6	750	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	STK4_ENST00000499879.2_Missense_Mutation_p.E164K|STK4_ENST00000372801.1_Missense_Mutation_p.E219K|STK4_ENST00000396731.4_Missense_Mutation_p.E219K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				AGAAATGGCTGAAGGAAAGCC	0.443																																					GBM(187;1039 2137 11798 21916 33213)	uc002xnb.2		NaN																	0				ovary(1)|skin(1)	2						c.(655-657)GAA>AAA		serine/threonine kinase 4							100.0	96.0	97.0					20																	43623860		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43623860G>A		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.655G>A	20.37:g.43623860G>A	ENSP00000361892:p.Glu219Lys					STK4_uc010ggx.2_Missense_Mutation_p.E219K|STK4_uc010ggy.2_Missense_Mutation_p.E164K|STK4_uc010ggw.1_Missense_Mutation_p.E219K	p.E219K	NM_006282	NP_006273	Q13043	STK4_HUMAN			6	745	+		Myeloproliferative disorder(115;0.0122)	219			Protein kinase.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.655G>A	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471912	0.84533	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	L	0.39245	1.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.994;0.997;0.997	T	0.00544	-1.1679	10	0.59425	D	0.04	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	164;219;219;219	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	K	219;219;219;164	ENSP00000361892:E219K;ENSP00000379957:E219K;ENSP00000361887:E219K;ENSP00000443514:E164K	ENSP00000361887:E219K	E	+	1	0	STK4	43057274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.324000	0.96373	2.806000	0.96561	0.655000	0.94253	GAA		0.443	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4		NM_006282		20	73	0	0	0	0.008871	0	20	73		
WFDC13	164237	broad.mit.edu	37	20	44330765	44330765	+	Start_Codon_SNP	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:44330765G>A	ENST00000305479.2	+	1	111	c.3G>A	c.(1-3)atG>atA	p.M1I	WFDC10B_ENST00000335769.2_Intron|MIR3617_ENST00000577518.1_RNA|WFDC10B_ENST00000330523.5_Intron	NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13	1						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				CTGACACCATGAAGCCTGTGC	0.567																																						uc002xpd.2		NaN																	0					0						c.(1-3)ATG>ATA		WAP four-disulfide core domain 13 precursor							115.0	84.0	94.0					20																	44330765		2203	4300	6503	SO:0001582	initiator_codon_variant	164237					extracellular region	peptidase inhibitor activity	g.chr20:44330765G>A	AF454505	CCDS13367.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000168634	ENSG00000168634		"""WAP four-disulfide core domain containing"""	16131	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 138"""	C20orf138		12206714	Standard	NM_172005		Approved	dJ601O1.3, WAP13	uc002xpd.3	Q8IUB5	OTTHUMG00000046333	ENST00000305479.2:c.3G>A	20.37:g.44330765G>A	ENSP00000302938:p.Met1Ile					WFDC10B_uc002xpb.2_Intron|WFDC10B_uc002xpc.2_Intron	p.M1I	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN			1	111	+		Myeloproliferative disorder(115;0.0122)	1					Q5TEU7|Q8WWK7	Missense_Mutation	SNP	ENST00000305479.2	37	c.3G>A	CCDS13367.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927429	0.52759	.	.	ENSG00000168634	ENST00000305479	T	0.45276	0.9	3.8	3.8	0.43715	.	0.000000	0.51477	D	0.000086	T	0.61400	0.2344	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.65393	-0.6179	9	0.87932	D	0	-28.7113	11.4381	0.50081	0.0:0.0:1.0:0.0	.	1	Q8IUB5	WFD13_HUMAN	I	1	ENSP00000302938:M1I	ENSP00000302938:M1I	M	+	3	0	WFDC13	43764179	0.999000	0.42202	0.976000	0.42696	0.329000	0.28539	3.485000	0.53208	2.432000	0.82394	0.637000	0.83480	ATG		0.567	WFDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106946.1			Missense_Mutation	6	15	0	0	0	0.001168	0	6	15		
ZMYND8	23613	broad.mit.edu	37	20	45976605	45976605	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:45976605G>A	ENST00000311275.7	-	2	273	c.20C>T	c.(19-21)tCc>tTc	p.S7F	ZMYND8_ENST00000540497.1_Missense_Mutation_p.S27F|ZMYND8_ENST00000262975.4_Missense_Mutation_p.S7F|ZMYND8_ENST00000458360.2_Missense_Mutation_p.S27F|ZMYND8_ENST00000446994.2_Missense_Mutation_p.S7F|ZMYND8_ENST00000461685.1_Missense_Mutation_p.S27F|ZMYND8_ENST00000360911.3_Missense_Mutation_p.S27F|ZMYND8_ENST00000471951.2_Missense_Mutation_p.S27F|ZMYND8_ENST00000355972.4_Missense_Mutation_p.S7F|ZMYND8_ENST00000396281.4_Missense_Mutation_p.S32F|RP4-569M23.4_ENST00000609320.1_RNA|ZMYND8_ENST00000372023.3_Missense_Mutation_p.S27F|ZMYND8_ENST00000536340.1_Missense_Mutation_p.S34F|ZMYND8_ENST00000352431.2_Missense_Mutation_p.S27F	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	7					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTCACCTTTGGAGCGAGTAGA	0.393																																						uc002xta.1		NaN																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(19-21)TCC>TTC		zinc finger, MYND-type containing 8 isoform b							155.0	149.0	151.0					20																	45976605		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45976605G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.20C>T	20.37:g.45976605G>A	ENSP00000312237:p.Ser7Phe					ZMYND8_uc010ghr.1_Missense_Mutation_p.S7F|ZMYND8_uc002xst.1_Missense_Mutation_p.S7F|ZMYND8_uc002xsu.1_Missense_Mutation_p.S7F|ZMYND8_uc002xsv.1_Missense_Mutation_p.S7F|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.S7F|ZMYND8_uc002xsz.1_Missense_Mutation_p.S7F|ZMYND8_uc010zxy.1_Missense_Mutation_p.S34F|ZMYND8_uc002xtb.1_Missense_Mutation_p.S27F|ZMYND8_uc002xss.2_Missense_Mutation_p.S32F|ZMYND8_uc010zxz.1_Missense_Mutation_p.S27F|ZMYND8_uc002xtc.1_Missense_Mutation_p.S27F|ZMYND8_uc002xtd.1_Missense_Mutation_p.S27F|ZMYND8_uc002xte.1_Missense_Mutation_p.S7F|ZMYND8_uc010zya.1_Missense_Mutation_p.S7F|ZMYND8_uc002xtf.1_Missense_Mutation_p.S27F|ZMYND8_uc010ghs.1_Missense_Mutation_p.S26F|ZMYND8_uc002xth.2_Missense_Mutation_p.S27F	p.S7F	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		2	274	-			7					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.20C>T		.	.	.	.	.	.	.	.	.	.	G	28.5	4.926505	0.92319	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836;ENST00000446894;ENST00000441977	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95885	-1.92;-1.99;-1.91;-2.02;-1.84;-1.79;-1.84;-1.85;-2.01;-2.69;-1.85;-1.95;-1.88;-3.84	5.86	5.86	0.93980	.	0.287399	0.34110	N	0.004256	D	0.96228	0.8770	L	0.29908	0.895	0.51233	D	0.999915	P;P;P;P;P;P;D;P;P;D;D;B;D;P;D;P;P	0.69078	0.753;0.742;0.625;0.549;0.573;0.742;0.997;0.903;0.84;0.997;0.995;0.399;0.997;0.753;0.995;0.728;0.625	P;P;B;B;B;P;D;P;P;D;D;B;D;B;D;B;P	0.71656	0.513;0.703;0.439;0.372;0.303;0.703;0.974;0.564;0.564;0.968;0.943;0.372;0.909;0.361;0.914;0.361;0.508	D	0.96766	0.9565	10	0.87932	D	0	-7.5075	20.1931	0.98233	0.0:0.0:1.0:0.0	.	27;34;27;27;27;27;7;27;27;27;7;7;27;27;27;27;32	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q569J9;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	F	27;7;27;7;27;27;32;34;7;7;27;27;27;7;7;7	ENSP00000354166:S27F;ENSP00000312237:S7F;ENSP00000392964:S27F;ENSP00000262975:S7F;ENSP00000420095:S27F;ENSP00000335537:S27F;ENSP00000379577:S32F;ENSP00000439800:S34F;ENSP00000348246:S7F;ENSP00000396725:S7F;ENSP00000418210:S27F;ENSP00000361093:S27F;ENSP00000443086:S27F;ENSP00000413727:S7F	ENSP00000262975:S7F	S	-	2	0	ZMYND8	45410012	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.771000	0.95319	0.563000	0.77884	TCC		0.393	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2		NM_183047		56	97	0	0	0	0.01441	0	56	97		
CSE1L	1434	broad.mit.edu	37	20	47675013	47675013	+	Missense_Mutation	SNP	G	G	A	rs372551577		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:47675013G>A	ENST00000262982.2	+	2	136	c.13G>A	c.(13-15)Gat>Aat	p.D5N	CSE1L_ENST00000542325.1_De_novo_Start_InFrame|CSE1L_ENST00000396192.3_Missense_Mutation_p.D5N	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	5					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GGAACTCAGCGATGCAAATCT	0.333																																						uc002xty.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(13-15)GAT>AAT		CSE1 chromosome segregation 1-like protein		G	ASN/ASP	0,4406		0,0,2203	92.0	100.0	97.0		13	5.3	1.0	20		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSE1L	NM_001316.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	5/972	47675013	1,13005	2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47675013G>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.13G>A	20.37:g.47675013G>A	ENSP00000262982:p.Asp5Asn					CSE1L_uc010zyg.1_5'UTR|CSE1L_uc010ghx.2_Missense_Mutation_p.D5N	p.D5N	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		2	147	+			5					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.13G>A	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274065	0.80580	0.0	1.16E-4	ENSG00000124207	ENST00000262982;ENST00000396192	T;T	0.19394	2.15;2.44	5.3	5.3	0.74995	Armadillo-like helical (1);Armadillo-type fold (1);	0.090469	0.85682	D	0.000000	T	0.32645	0.0836	M	0.68593	2.085	0.80722	D	1	D;D	0.57257	0.968;0.979	P;P	0.46796	0.495;0.527	T	0.06862	-1.0803	10	0.40728	T	0.16	-21.413	18.953	0.92646	0.0:0.0:1.0:0.0	.	5;5	F8W904;P55060	.;XPO2_HUMAN	N	5	ENSP00000262982:D5N;ENSP00000379495:D5N	ENSP00000262982:D5N	D	+	1	0	CSE1L	47108420	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.191000	0.94940	2.466000	0.83321	0.591000	0.81541	GAT		0.333	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2		NM_001316		19	101	0	0	0	0.008871	0	19	101		
SLC9A8	23315	broad.mit.edu	37	20	48466215	48466215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:48466215C>T	ENST00000361573.2	+	6	574	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	SLC9A8_ENST00000417961.1_Nonsense_Mutation_p.Q178*|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_5'UTR			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	178					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTTTCTGGGTCAGGTAAGAAA	0.443																																						uc002xuv.1		NaN																	0				ovary(1)	1						c.(532-534)CAG>TAG		sodium/hydrogen exchanger 8							116.0	114.0	115.0					20																	48466215		2203	4300	6503	SO:0001587	stop_gained	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48466215C>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.532C>T	20.37:g.48466215C>T	ENSP00000354966:p.Gln178*					SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Nonsense_Mutation_p.Q178*|SLC9A8_uc010zyk.1_Nonsense_Mutation_p.Q178*|SLC9A8_uc010zyl.1_Nonsense_Mutation_p.Q150*|SLC9A8_uc010gib.1_Intron	p.Q178*	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		6	742	+			178					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Nonsense_Mutation	SNP	ENST00000361573.2	37	c.532C>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	C	39	7.319972	0.98210	.	.	ENSG00000197818	ENST00000417961;ENST00000361573	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5042	0.95108	0.0:1.0:0.0:0.0	.	.	.	.	X	178	.	ENSP00000354966:Q178X	Q	+	1	0	SLC9A8	47899622	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.996000	0.70639	2.626000	0.88956	0.484000	0.47621	CAG		0.443	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3		XM_030524		29	54	0	0	0	0.007291	0	29	54		
CEBPB	1051	broad.mit.edu	37	20	48808497	48808497	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:48808497G>A	ENST00000303004.3	+	1	1122	c.927G>A	c.(925-927)gaG>gaA	p.E309E		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	309	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			TCACGGCCGAGAACGAGCGGC	0.662																																						uc002xvi.1		NaN																	0					0						c.(925-927)GAG>GAA		CCAAT/enhancer binding protein beta							36.0	34.0	35.0					20																	48808497		2203	4300	6503	SO:0001819	synonymous_variant	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48808497G>A	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"""basic leucine zipper proteins"""	1834	protein-coding gene	gene with protein product	"""liver-enriched transcriptional activator protein"", ""nuclear factor of interleukin 6"", ""interleukin 6-dependent DNA-binding protein"""	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.927G>A	20.37:g.48808497G>A						CEBPB_uc002xvh.2_RNA	p.E309E	NM_005194	NP_005185	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		1	1122	+			309			Leucine-zipper.		A8K671|Q96IH2|Q9H4Z5	Silent	SNP	ENST00000303004.3	37	c.927G>A	CCDS13429.1																																																																																				0.662	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1		NM_005194		5	7	0	0	0	0.001984	0	5	7		
FAM65C	140876	broad.mit.edu	37	20	49212713	49212713	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:49212713C>T	ENST00000327979.2	-	15	2277	c.1866G>A	c.(1864-1866)ctG>ctA	p.L622L	FAM65C_ENST00000045083.2_Silent_p.L622L|FAM65C_ENST00000535356.1_Silent_p.L626L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	622										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTGTACCATCAGCAGCACGT	0.597																																						uc002xvm.2		NaN																	0				ovary(2)	2						c.(1864-1866)CTG>CTA		hypothetical protein LOC140876							61.0	68.0	66.0					20																	49212713		2049	4183	6232	SO:0001819	synonymous_variant	140876							g.chr20:49212713C>T	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1866G>A	20.37:g.49212713C>T						FAM65C_uc010zyt.1_Silent_p.L626L|FAM65C_uc010zyu.1_RNA	p.L622L	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			15	2184	-			622					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.1866G>A	CCDS13431.2																																																																																				0.597	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1				41	52	0	0	0	0.007835	0	41	52		
SALL4	57167	broad.mit.edu	37	20	50401020	50401020	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:50401020C>T	ENST00000217086.4	-	4	3057	c.2946G>A	c.(2944-2946)gtG>gtA	p.V982V	SALL4_ENST00000395997.3_Silent_p.V545V|SALL4_ENST00000371539.3_Silent_p.V205V	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	982					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATTGGTCTTCACGGCCAGAC	0.547																																						uc002xwh.3		NaN																	0				ovary(2)	2						c.(2944-2946)GTG>GTA		sal-like 4							91.0	83.0	86.0					20																	50401020		2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50401020C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2946G>A	20.37:g.50401020C>T						SALL4_uc010gii.2_Silent_p.V545V|SALL4_uc002xwi.3_Silent_p.V205V	p.V982V	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			4	3047	-			982					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.2946G>A	CCDS13438.1																																																																																				0.547	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3				39	71	0	0	0	0.007835	0	39	71		
CYP24A1	1591	broad.mit.edu	37	20	52788164	52788164	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:52788164T>C	ENST00000216862.3	-	3	888	c.495A>G	c.(493-495)aaA>aaG	p.K165K	CYP24A1_ENST00000395954.3_Silent_p.K23K|CYP24A1_ENST00000395955.3_Silent_p.K165K	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	165					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTTTCATTAGTTTCTTTTGAA	0.498																																						uc002xwv.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(493-495)AAA>AAG		cytochrome P450 family 24 subfamily A	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						175.0	177.0	176.0					20																	52788164		2203	4300	6503	SO:0001819	synonymous_variant	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52788164T>C	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.495A>G	20.37:g.52788164T>C						CYP24A1_uc002xwu.1_Silent_p.K23K|CYP24A1_uc002xww.2_Silent_p.K165K	p.K165K	NM_000782	NP_000773	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		3	893	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		165					Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	c.495A>G	CCDS33491.1																																																																																				0.498	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2				40	170	0	0	0	0.006999	0	40	170		
SPO11	23626	broad.mit.edu	37	20	55918412	55918412	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:55918412G>A	ENST00000371263.3	+	13	1196	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	SPO11_ENST00000345868.4_Missense_Mutation_p.D325N|SPO11_ENST00000371260.4_Missense_Mutation_p.D321N	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	363					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AATAATGGCAGACTCTAAAAT	0.323								Editing and processing nucleases																														uc002xye.2		NaN																	0				breast(2)|skin(1)	3						c.(1087-1089)GAC>AAC	Editing_and_processing_nucleases	meiotic recombination protein SPO11 isoform a							65.0	72.0	70.0					20																	55918412		2203	4297	6500	SO:0001583	missense	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55918412G>A	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.1087G>A	20.37:g.55918412G>A	ENSP00000360310:p.Asp363Asn					SPO11_uc002xyf.2_Missense_Mutation_p.D325N	p.D363N	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		13	1180	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		363					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	c.1087G>A	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590610	0.28357	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260	T;T;T	0.29917	1.55;1.55;1.55	5.25	3.28	0.37604	.	0.567419	0.20512	N	0.090868	T	0.20292	0.0488	N	0.25992	0.78	0.33363	D	0.572619	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.17379	-1.0371	10	0.27082	T	0.32	-2.4942	10.3975	0.44209	0.2149:0.0:0.7851:0.0	.	325;363	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	N	363;325;321	ENSP00000360310:D363N;ENSP00000316034:D325N;ENSP00000360307:D321N	ENSP00000316034:D325N	D	+	1	0	SPO11	55351819	0.999000	0.42202	0.833000	0.33012	0.997000	0.91878	2.192000	0.42649	0.697000	0.31718	0.591000	0.81541	GAC		0.323	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2		NM_012444		48	91	0	0	0	0.01441	0	48	91		
VAPB	9217	broad.mit.edu	37	20	56993382	56993382	+	Silent	SNP	C	C	T	rs139149560	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:56993382C>T	ENST00000475243.1	+	2	512	c.174C>T	c.(172-174)agC>agT	p.S58S	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Silent_p.S58S	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	58	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GGCCCAACAGCGGAATCATCG	0.517													C|||	4	0.000798722	0.0	0.0	5008	,	,		13144	0.002		0.001	False		,,,				2504	0.001					uc002xza.2		NaN																	0				kidney(1)	1						c.(172-174)AGC>AGT		VAMP-associated protein B/C		C	,	2,4404	4.2+/-10.8	0,2,2201	142.0	123.0	130.0		174,174	-5.1	0.5	20	dbSNP_134	130	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	VAPB	NM_001195677.1,NM_004738.4	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	58/100,58/244	56993382	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9217				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	g.chr20:56993382C>T	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.174C>T	20.37:g.56993382C>T						VAPB_uc002xzb.2_RNA|VAPB_uc010zzo.1_5'UTR|VAPB_uc002xzc.2_Silent_p.S58S	p.S58S	NM_004738	NP_004729	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		2	445	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		58			Cytoplasmic (Potential).|MSP.		A2A2F2|O95293|Q9P0H0	Silent	SNP	ENST00000475243.1	37	c.174C>T	CCDS33498.1																																																																																				0.517	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2				20	112	0	0	0	0.008871	0	20	112		
CDH4	1002	broad.mit.edu	37	20	60448896	60448896	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:60448896G>T	ENST00000360469.5	+	7	1078	c.990G>T	c.(988-990)atG>atT	p.M330I	CDH4_ENST00000543233.1_Missense_Mutation_p.M256I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	330	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCAGAATATGTTCACCATCA	0.642																																						uc002ybn.1		NaN																	0				lung(3)|ovary(2)|skin(1)	6						c.(988-990)ATG>ATT		cadherin 4, type 1 preproprotein							177.0	144.0	155.0					20																	60448896		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448896G>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.990G>T	20.37:g.60448896G>T	ENSP00000353656:p.Met330Ile					CDH4_uc002ybp.1_Missense_Mutation_p.M256I	p.M330I	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	1004	+			330			Extracellular (Potential).|Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.990G>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084214	0.76642	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.51574	0.7;0.7	4.92	4.92	0.64577	Cadherin (4);Cadherin-like (1);	0.039191	0.85682	D	0.000000	T	0.37461	0.1004	L	0.33093	0.98	0.80722	D	1	P	0.36125	0.538	B	0.32211	0.142	T	0.17137	-1.0379	9	.	.	.	.	18.1708	0.89744	0.0:0.0:1.0:0.0	.	330	P55283	CADH4_HUMAN	I	330;238;256	ENSP00000353656:M330I;ENSP00000443301:M256I	.	M	+	3	0	CDH4	59882291	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	9.571000	0.98176	2.282000	0.76494	0.585000	0.79938	ATG		0.642	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2		NM_001794		22	85	1	0	1.64293e-13	0.00333	1.72147e-13	22	85		
LAMA5	3911	broad.mit.edu	37	20	60893546	60893546	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:60893546G>A	ENST00000252999.3	-	53	7269	c.7203C>T	c.(7201-7203)ctC>ctT	p.L2401L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2401	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGCGGCTGTTGAGCTCCTGGG	0.672																																						uc002ycq.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(7201-7203)CTC>CTT		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						36.0	41.0	39.0					20																	60893546		2178	4282	6460	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60893546G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7203C>T	20.37:g.60893546G>A							p.L2401L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		53	7270	-	Breast(26;1.57e-08)		2401			Domain II and I.|Potential.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.7203C>T	CCDS33502.1																																																																																				0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560		11	11	0	0	0	0.004007	0	11	11		
LAMA5	3911	broad.mit.edu	37	20	60908290	60908290	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:60908290G>A	ENST00000252999.3	-	26	3204	c.3138C>T	c.(3136-3138)ctC>ctT	p.L1046L	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1046	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGTGTGTGTAGAGGAGGCAGC	0.716																																						uc002ycq.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3136-3138)CTC>CTT		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						15.0	21.0	19.0					20																	60908290		2156	4232	6388	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60908290G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3138C>T	20.37:g.60908290G>A							p.L1046L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		26	3205	-	Breast(26;1.57e-08)		1046			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.3138C>T	CCDS33502.1																																																																																				0.716	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560		8	18	0	0	0	0.00308	0	8	18		
LAMA5	3911	broad.mit.edu	37	20	60910092	60910092	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:60910092A>G	ENST00000252999.3	-	20	2533	c.2467T>C	c.(2467-2469)Tat>Cat	p.Y823H	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	823	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAGCCAAAATAGTCAGCCTGA	0.652																																						uc002ycq.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2467-2469)TAT>CAT		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						62.0	49.0	54.0					20																	60910092		2203	4300	6503	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60910092A>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2467T>C	20.37:g.60910092A>G	ENSP00000252999:p.Tyr823His						p.Y823H	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		20	2534	-	Breast(26;1.57e-08)		823			Laminin EGF-like 10.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2467T>C	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514599	0.64522	.	.	ENSG00000130702	ENST00000252999	T	0.60920	0.15	5.1	5.1	0.69264	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.74535	0.3729	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77109	-0.2709	10	0.56958	D	0.05	.	14.8805	0.70528	1.0:0.0:0.0:0.0	.	823	O15230	LAMA5_HUMAN	H	823	ENSP00000252999:Y823H	ENSP00000252999:Y823H	Y	-	1	0	LAMA5	60343487	1.000000	0.71417	0.996000	0.52242	0.215000	0.24574	9.080000	0.94040	1.918000	0.55548	0.459000	0.35465	TAT		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560		6	17	0	0	0	0.001984	0	6	17		
ARFRP1	10139	broad.mit.edu	37	20	62338434	62338434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:62338434G>C	ENST00000359715.5	-	1	576	c.10C>G	c.(10-12)Ctg>Gtg	p.L4V	ZGPAT_ENST00000357119.4_5'Flank|ARFRP1_ENST00000609142.1_Missense_Mutation_p.L4V|ARFRP1_ENST00000324228.2_Missense_Mutation_p.L4V|ZGPAT_ENST00000328969.5_5'Flank|ARFRP1_ENST00000607873.1_Intron|ZGPAT_ENST00000369967.3_5'Flank|ARFRP1_ENST00000440854.1_Missense_Mutation_p.L4V|RP4-583P15.15_ENST00000490623.2_5'Flank|ZGPAT_ENST00000448100.2_5'Flank|ZGPAT_ENST00000355969.6_5'Flank			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	4					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCCGACAGCAGCGTGTACATC	0.612																																						uc002yga.2		NaN																	0				breast(1)|skin(1)	2						c.(10-12)CTG>GTG		ADP-ribosylation factor related protein 1							180.0	107.0	132.0					20																	62338434		2200	4297	6497	SO:0001583	missense	10139				small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity	g.chr20:62338434G>C	X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"""ADP-ribosylation factors"""	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.10C>G	20.37:g.62338434G>C	ENSP00000352746:p.Leu4Val					ARFRP1_uc002ygc.2_Missense_Mutation_p.L4V|ARFRP1_uc002ygh.3_Missense_Mutation_p.L4V|ARFRP1_uc011abf.1_Missense_Mutation_p.L4V|ARFRP1_uc011abg.1_Missense_Mutation_p.L4V|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.L4V|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA|ZGPAT_uc002ygi.2_5'Flank|ZGPAT_uc002ygj.2_5'Flank|ZGPAT_uc002ygk.2_5'Flank|ZGPAT_uc010gkk.1_5'Flank|ZGPAT_uc010gkl.1_5'Flank|ZGPAT_uc002ygm.2_5'Flank|ZGPAT_uc002ygn.3_5'Flank	p.L4V	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)		1	577	-	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		4					B7ZKX7|E1P5J9|Q6IBQ0	Missense_Mutation	SNP	ENST00000359715.5	37	c.10C>G	CCDS13533.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038412	0.75617	.	.	ENSG00000101246	ENST00000440854;ENST00000359715;ENST00000324228	T;T;T	0.71341	-0.41;-0.56;-0.56	4.9	3.94	0.45596	.	0.000000	0.64402	D	0.000003	D	0.84019	0.5380	M	0.86651	2.83	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84915	0.0850	10	0.45353	T	0.12	-17.6857	11.6781	0.51442	0.0862:0.0:0.9138:0.0	.	4;4	B3KTR4;Q13795	.;ARFRP_HUMAN	V	4	ENSP00000403942:L4V;ENSP00000352746:L4V;ENSP00000326884:L4V	ENSP00000326884:L4V	L	-	1	2	ARFRP1	61808878	0.994000	0.37717	1.000000	0.80357	0.906000	0.53458	2.445000	0.44899	2.264000	0.75181	0.491000	0.48974	CTG		0.612	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1				5	7	0	0	0	0.001984	0	5	7		
ZGPAT	84619	broad.mit.edu	37	20	62340319	62340319	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:62340319G>A	ENST00000328969.5	+	2	514	c.387G>A	c.(385-387)ctG>ctA	p.L129L	ZGPAT_ENST00000357119.4_Silent_p.L129L|ARFRP1_ENST00000609142.1_5'Flank|ARFRP1_ENST00000324228.2_5'Flank|ARFRP1_ENST00000607873.1_5'Flank|ZGPAT_ENST00000369967.3_Silent_p.L129L|ARFRP1_ENST00000359715.5_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|RP4-583P15.15_ENST00000490623.2_Silent_p.*35*|ZGPAT_ENST00000448100.2_Silent_p.L129L|ZGPAT_ENST00000355969.6_Silent_p.L129L	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	129					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					aggaagagCTGAGTGGGACAA	0.632																																						uc002ygk.2		NaN																	0					0						c.(385-387)CTG>CTA		zinc finger, CCCH-type with G patch domain							62.0	58.0	59.0					20																	62340319		2203	4300	6503	SO:0001819	synonymous_variant	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62340319G>A	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.387G>A	20.37:g.62340319G>A						ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Silent_p.L129L|ZGPAT_uc002ygj.2_Silent_p.L129L|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Silent_p.L129L|ZGPAT_uc002ygm.2_Silent_p.L129L|ZGPAT_uc002ygn.3_RNA	p.L129L	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN			2	565	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		129					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	c.387G>A	CCDS13534.1																																																																																				0.632	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1		NM_181484		17	45	0	0	0	0.004007	0	17	45		
LIPI	149998	broad.mit.edu	37	21	15561684	15561684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:15561684C>T	ENST00000536861.1	-	2	102	c.103G>A	c.(103-105)Gat>Aat	p.D35N	LIPI_ENST00000344577.2_Missense_Mutation_p.D56N			Q6XZB0	LIPI_HUMAN	lipase, member I	35					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATAAATAAATCTCTGAAGGAA	0.353																																						uc002yjm.2		NaN																	0				ovary(2)	2						c.(166-168)GAT>AAT		lipase, member I							89.0	93.0	92.0					21																	15561684		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561684C>T	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.103G>A	21.37:g.15561684C>T	ENSP00000440381:p.Asp35Asn					LIPI_uc010gkw.1_5'UTR	p.D56N	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	176	-			35					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.166G>A		.	.	.	.	.	.	.	.	.	.	C	19.47	3.834056	0.71373	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.90844	-2.74;-2.74	5.3	5.3	0.74995	.	0.827365	0.11018	N	0.608759	D	0.92828	0.7719	L	0.52905	1.665	0.25853	N	0.983915	D	0.63046	0.992	P	0.61592	0.891	D	0.85212	0.1021	10	0.17369	T	0.5	.	14.8215	0.70077	0.0:1.0:0.0:0.0	.	56	Q6XZB0-2	.	N	56;35	ENSP00000343331:D56N;ENSP00000440381:D35N	ENSP00000343331:D56N	D	-	1	0	LIPI	14483555	0.985000	0.35326	0.995000	0.50966	0.927000	0.56198	4.357000	0.59436	2.648000	0.89879	0.655000	0.94253	GAT		0.353	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_198996		40	153	0	0	0	0.009718	0	40	153		
RBM11	54033	broad.mit.edu	37	21	15599290	15599290	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:15599290G>A	ENST00000400577.3	+	5	531	c.522G>A	c.(520-522)ctG>ctA	p.L174L	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	174					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CTTCCTCACTGAATCATGTTC	0.453																																						uc002yjo.3		NaN																	0					0						c.(520-522)CTG>CTA		RNA binding motif protein 11							209.0	195.0	200.0					21																	15599290		1931	4135	6066	SO:0001819	synonymous_variant	54033						nucleotide binding|RNA binding	g.chr21:15599290G>A	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.522G>A	21.37:g.15599290G>A						RBM11_uc002yjn.3_Silent_p.L60L|RBM11_uc002yjp.3_Silent_p.L60L	p.L174L	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	564	+			174					Q6YNC2|Q8NBA1|Q8NFF6	Silent	SNP	ENST00000400577.3	37	c.522G>A	CCDS46635.1																																																																																				0.453	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1		NM_144770		69	273	0	0	0	0.01441	0	69	273		
RBM11	54033	broad.mit.edu	37	21	15599416	15599416	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:15599416G>A	ENST00000400577.3	+	5	657	c.648G>A	c.(646-648)ctG>ctA	p.L216L	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	216					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CTTCCTCACTGAATCATGTTC	0.443																																						uc002yjo.3		NaN																	0					0						c.(646-648)CTG>CTA		RNA binding motif protein 11							210.0	202.0	205.0					21																	15599416		1937	4122	6059	SO:0001819	synonymous_variant	54033						nucleotide binding|RNA binding	g.chr21:15599416G>A	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.648G>A	21.37:g.15599416G>A						RBM11_uc002yjn.3_Silent_p.L102L|RBM11_uc002yjp.3_Silent_p.L102L	p.L216L	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	690	+			216					Q6YNC2|Q8NBA1|Q8NFF6	Silent	SNP	ENST00000400577.3	37	c.648G>A	CCDS46635.1																																																																																				0.443	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1		NM_144770		8	395	0	0	0	0.004482	0	8	395		
NRIP1	8204	broad.mit.edu	37	21	16338443	16338443	+	Missense_Mutation	SNP	G	G	T	rs61755058	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:16338443G>T	ENST00000400202.1	-	3	2783	c.2071C>A	c.(2071-2073)Cca>Aca	p.P691T	NRIP1_ENST00000318948.4_Missense_Mutation_p.P691T|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Missense_Mutation_p.P691T			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	691	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GGACCTGTTGGTTGACTACTA	0.398																																						uc002yjx.2		NaN																	0					0						c.(2071-2073)CCA>ACA		nuclear receptor interacting protein 1							88.0	87.0	88.0					21																	16338443		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338443G>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2071C>A	21.37:g.16338443G>T	ENSP00000383063:p.Pro691Thr						p.P691T	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	2669	-			691			Repression domain 2.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.2071C>A	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	3.612	-0.079447	0.07141	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.17854	2.25;2.25;2.25	5.69	-3.02	0.05446	.	0.377494	0.25801	N	0.028215	T	0.08447	0.0210	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.15780	-1.0425	10	0.46703	T	0.11	-20.7944	0.756	0.00999	0.2773:0.1187:0.3418:0.2623	.	691	P48552	NRIP1_HUMAN	T	691	ENSP00000383060:P691T;ENSP00000383063:P691T;ENSP00000327213:P691T	ENSP00000327213:P691T	P	-	1	0	NRIP1	15260314	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.155000	0.10115	-0.397000	0.07691	0.655000	0.94253	CCA		0.398	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1		NM_003489		22	89	1	0	3.62473e-10	0.012319	3.77431e-10	22	89		
NRIP1	8204	broad.mit.edu	37	21	16339706	16339706	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:16339706G>A	ENST00000400202.1	-	3	1520	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	NRIP1_ENST00000318948.4_Silent_p.L270L|NRIP1_ENST00000400199.1_Silent_p.L270L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	270	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCGCTTGACAGAAGTAATGCT	0.463																																						uc002yjx.2		NaN																	0					0						c.(808-810)CTG>TTG		nuclear receptor interacting protein 1							164.0	148.0	153.0					21																	16339706		2203	4300	6503	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339706G>A	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.808C>T	21.37:g.16339706G>A							p.L270L	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	1406	-			270			LXXLL motif 4.|Repression domain 1.		Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.808C>T	CCDS13568.1																																																																																				0.463	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1		NM_003489		68	122	0	0	0	0.01441	0	68	122		
APP	351	broad.mit.edu	37	21	27326925	27326925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:27326925C>T	ENST00000346798.3	-	13	1699	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	APP_ENST00000354192.3_Missense_Mutation_p.E425K|APP_ENST00000357903.3_Missense_Mutation_p.E537K|APP_ENST00000439274.2_Missense_Mutation_p.E500K|APP_ENST00000448388.2_Missense_Mutation_p.E446K|APP_ENST00000440126.3_Missense_Mutation_p.E532K|APP_ENST00000358918.3_Missense_Mutation_p.E556K|APP_ENST00000348990.5_Missense_Mutation_p.E481K|APP_ENST00000359726.3_Missense_Mutation_p.E500K	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	556					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGAATCTCCTCGGCCACTGCA	0.463																																						uc002ylz.2		NaN																	0				ovary(1)	1						c.(1666-1668)GAG>AAG		amyloid beta A4 protein isoform a precursor							116.0	90.0	99.0					21																	27326925		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27326925C>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1666G>A	21.37:g.27326925C>T	ENSP00000284981:p.Glu556Lys					APP_uc011acg.1_Missense_Mutation_p.E64K|APP_uc010glk.2_Missense_Mutation_p.E532K|APP_uc002yma.2_Missense_Mutation_p.E537K|APP_uc011ach.1_Missense_Mutation_p.E500K|APP_uc002ymb.2_Missense_Mutation_p.E481K|APP_uc010glj.2_Missense_Mutation_p.E425K|APP_uc011aci.1_Missense_Mutation_p.E446K	p.E556K	NM_000484	NP_000475	P05067	A4_HUMAN			13	1866	-		Breast(209;0.00295)	556			Extracellular (Potential).		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1666G>A	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.40|18.40	3.615293|3.615293	0.66672|0.66672	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209|ENST00000448850	T;T;T;T;T;T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Amyloidogenic glycoprotein, E2 domain (1);|.	0.152384|.	0.64402|.	D|.	0.000016|.	T|T	0.67069|0.67069	0.2854|0.2854	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999992|0.999992	P;P;P;P;P;P;P|.	0.49635|.	0.879;0.798;0.64;0.926;0.755;0.755;0.798|.	B;B;B;B;B;B;B|.	0.35859|.	0.105;0.105;0.041;0.212;0.089;0.089;0.088|.	T|T	0.62238|0.62238	-0.6896|-0.6896	10|5	0.72032|.	D|.	0.01|.	-22.3226|-22.3226	17.6521|17.6521	0.88167|0.88167	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	446;500;532;425;481;537;556|.	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;A4_HUMAN|.	K|Q	556;425;481;537;556;500;446;532;500;143|458	ENSP00000284981:E556K;ENSP00000346129:E425K;ENSP00000345463:E481K;ENSP00000350578:E537K;ENSP00000351796:E556K;ENSP00000352760:E500K;ENSP00000388538:E446K;ENSP00000387483:E532K;ENSP00000398879:E500K;ENSP00000397795:E143K|.	ENSP00000284981:E556K|.	E|R	-|-	1|2	0|0	APP|APP	26248796|26248796	0.998000|0.998000	0.40836|0.40836	0.989000|0.989000	0.46669|0.46669	0.992000|0.992000	0.81027|0.81027	3.485000|3.485000	0.53208|0.53208	2.763000|2.763000	0.94921|0.94921	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.463	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1		NM_000484		12	25	0	0	0	0.010729	0	12	25		
APP	351	broad.mit.edu	37	21	27423431	27423431	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:27423431C>G	ENST00000346798.3	-	5	580	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	APP_ENST00000354192.3_Missense_Mutation_p.E127Q|APP_ENST00000357903.3_Missense_Mutation_p.E183Q|APP_ENST00000439274.2_Missense_Mutation_p.E127Q|APP_ENST00000448388.2_Missense_Mutation_p.E148Q|APP_ENST00000440126.3_Missense_Mutation_p.E178Q|APP_ENST00000358918.3_Missense_Mutation_p.E183Q|APP_ENST00000348990.5_Missense_Mutation_p.E183Q|APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_Missense_Mutation_p.E183Q	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	183	Zinc-binding.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACACAAACTCTACCCCTCGG	0.512																																						uc002ylz.2		NaN																	0				ovary(1)	1						c.(547-549)GAG>CAG		amyloid beta A4 protein isoform a precursor							131.0	105.0	114.0					21																	27423431		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27423431C>G	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.547G>C	21.37:g.27423431C>G	ENSP00000284981:p.Glu183Gln					APP_uc010glk.2_Missense_Mutation_p.E178Q|APP_uc002yma.2_Missense_Mutation_p.E183Q|APP_uc011ach.1_Missense_Mutation_p.E127Q|APP_uc002ymb.2_Missense_Mutation_p.E183Q|APP_uc010glj.2_Missense_Mutation_p.E127Q|APP_uc011aci.1_Missense_Mutation_p.E148Q|APP_uc011acj.1_Missense_Mutation_p.E183Q	p.E183Q	NM_000484	NP_000475	P05067	A4_HUMAN			5	747	-		Breast(209;0.00295)	183			Extracellular (Potential).|Zinc-binding.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.547G>C	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.387199|5.387199	0.95988|0.95988	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274|ENST00000448850	D;D;D;D;D;D;D;D;D|.	0.97791|.	-2.42;-4.45;-4.5;-2.44;-2.25;-4.54;-4.43;-2.43;-2.38|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, extracellular domain conserved site (1);Amyloidogenic glycoprotein, copper-binding (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77644|0.77644	0.4161|0.4161	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	0.995;0.997;0.997;1.0;0.996;1.0;0.999;0.997|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.943;0.988;0.988;1.0;0.98;0.998;0.981;0.988|.	T|T	0.76318|0.76318	-0.3003|-0.3003	10|5	0.87932|.	D|.	0|.	-29.1429|-29.1429	19.4919|19.4919	0.95054|0.95054	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	183;148;127;178;127;183;183;183|.	P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;.;A4_HUMAN|.	Q|T	183;127;183;183;183;183;148;178;127|104	ENSP00000284981:E183Q;ENSP00000346129:E127Q;ENSP00000345463:E183Q;ENSP00000350578:E183Q;ENSP00000351796:E183Q;ENSP00000352760:E183Q;ENSP00000388538:E148Q;ENSP00000387483:E178Q;ENSP00000398879:E127Q|.	ENSP00000284981:E183Q|.	E|R	-|-	1|2	0|0	APP|APP	26345302|26345302	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.818000|7.818000	0.86416|0.86416	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.512	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1		NM_000484		6	54	0	0	0	0.001168	0	6	54		
GRIK1	2897	broad.mit.edu	37	21	30949385	30949385	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:30949385C>G	ENST00000399907.1	-	14	2440	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	GRIK1_ENST00000389125.3_Missense_Mutation_p.E662Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.E662Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.E677Q|GRIK1_ENST00000399914.1_Missense_Mutation_p.E662Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.E677Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E679Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E679Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.E677Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	677					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCCATTCTCTCTACTGTCAAG	0.448																																						uc002yno.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2029-2031)GAG>CAG		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						120.0	114.0	116.0					21																	30949385		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30949385C>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2029G>C	21.37:g.30949385C>G	ENSP00000382791:p.Glu677Gln					GRIK1_uc002ynn.2_Missense_Mutation_p.E662Q|GRIK1_uc011acs.1_Missense_Mutation_p.E677Q|GRIK1_uc011act.1_Missense_Mutation_p.E538Q	p.E677Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN			14	2493	-			677			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2029G>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970850	0.92919	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.3	5.3	0.74995	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	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;0.999	T	0.72384	-0.4310	10	0.49607	T	0.09	.	18.7417	0.91775	0.0:1.0:0.0:0.0	.	662;677;677;662	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	Q	677;662;677;662;679;538;677;677;662;679	ENSP00000327687:E677Q;ENSP00000373777:E662Q;ENSP00000382797:E677Q;ENSP00000382798:E662Q;ENSP00000446326:E679Q;ENSP00000373776:E677Q;ENSP00000382791:E677Q;ENSP00000382793:E662Q;ENSP00000311646:E679Q	ENSP00000311646:E679Q	E	-	1	0	GRIK1	29871256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.595000	0.82710	2.765000	0.95021	0.650000	0.86243	GAG		0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1				24	105	0	0	0	0.00278	0	24	105		
DNAJC28	54943	broad.mit.edu	37	21	34860800	34860800	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:34860800G>C	ENST00000314399.3	-	2	1339	c.901C>G	c.(901-903)Caa>Gaa	p.Q301E	DNAJC28_ENST00000402202.1_Missense_Mutation_p.Q301E|DNAJC28_ENST00000381947.3_Missense_Mutation_p.Q301E	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	301										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						ATGTTTTCTTGAAACTGCTCA	0.353																																						uc002yrv.2		NaN																	0					0						c.(901-903)CAA>GAA		DnaJ (Hsp40) homolog, subfamily C, member 28							107.0	107.0	107.0					21																	34860800		2203	4300	6503	SO:0001583	missense	54943						heat shock protein binding	g.chr21:34860800G>C	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.901C>G	21.37:g.34860800G>C	ENSP00000320303:p.Gln301Glu					DNAJC28_uc002yrw.2_Missense_Mutation_p.Q301E	p.Q301E	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN			2	1350	-			301			Potential.		D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	c.901C>G	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	G	9.962	1.223089	0.22457	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.39	4.49	0.54785	.	0.534882	0.20307	N	0.094912	T	0.34221	0.0890	L	0.35644	1.08	0.28465	N	0.915705	B	0.12013	0.005	B	0.12156	0.007	T	0.21655	-1.0239	9	0.13470	T	0.59	-6.0016	9.8482	0.41039	0.0:0.3442:0.5206:0.1352	.	301	Q9NX36	DJC28_HUMAN	E	301	.	ENSP00000320303:Q301E	Q	-	1	0	DNAJC28	33782670	0.313000	0.24554	1.000000	0.80357	0.995000	0.86356	0.662000	0.25038	1.240000	0.43803	0.650000	0.86243	CAA		0.353	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3				103	125	0	0	0	0.01441	0	103	125		
RCAN1	1827	broad.mit.edu	37	21	35895867	35895867	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:35895867G>C	ENST00000313806.4	-	2	524	c.394C>G	c.(394-396)Ctg>Gtg	p.L132V	RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000481448.1_Missense_Mutation_p.L122V|RCAN1_ENST00000492600.1_Missense_Mutation_p.L77V|RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000381135.3_Missense_Mutation_p.L122V|RCAN1_ENST00000381132.2_Missense_Mutation_p.L77V|RCAN1_ENST00000399272.1_Missense_Mutation_p.L51V|RCAN1_ENST00000443408.2_5'UTR|RCAN1_ENST00000489903.1_5'UTR	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	132					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						TCCTTTCCCAGAAACTCAGTC	0.453																																						uc002yue.2		NaN																	0					0						c.(394-396)CTG>GTG		calcipressin 1 isoform a							131.0	124.0	126.0					21																	35895867		2203	4300	6503	SO:0001583	missense	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35895867G>C		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.394C>G	21.37:g.35895867G>C	ENSP00000320768:p.Leu132Val					RCAN1_uc002yuc.2_Missense_Mutation_p.L51V|RCAN1_uc002yud.2_5'UTR|RCAN1_uc002yub.2_Missense_Mutation_p.L77V|RCAN1_uc011adx.1_Missense_Mutation_p.L77V	p.L132V	NM_004414	NP_004405	P53805	RCAN1_HUMAN			2	466	-			132					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	ENST00000313806.4	37	c.394C>G	CCDS13637.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515899	0.27123	.	.	ENSG00000159200	ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000381135	.	.	.	5.1	4.21	0.49690	.	0.235037	0.43579	D	0.000558	T	0.67011	0.2848	M	0.66297	2.02	0.80722	D	1	D;B;B;P	0.57571	0.98;0.409;0.072;0.474	P;B;B;B	0.57324	0.818;0.281;0.073;0.222	T	0.64575	-0.6375	9	0.16420	T	0.52	-11.8598	14.832	0.70156	0.0:0.0:0.8547:0.1453	.	77;132;51;77	B7Z1F0;P53805;P53805-3;Q6FGP2	.;RCAN1_HUMAN;.;.	V	132;77;51;122;122	.	ENSP00000320768:L132V	L	-	1	2	RCAN1	34817737	1.000000	0.71417	0.438000	0.26821	0.997000	0.91878	3.704000	0.54815	1.238000	0.43771	0.655000	0.94253	CTG		0.453	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1				32	53	0	0	0	0.010818	0	32	53		
RCAN1	1827	broad.mit.edu	37	21	35895991	35895991	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:35895991G>C	ENST00000313806.4	-	2	400	c.270C>G	c.(268-270)ctC>ctG	p.L90L	RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000481448.1_Silent_p.L80L|RCAN1_ENST00000492600.1_Silent_p.L35L|RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000381135.3_Silent_p.L80L|RCAN1_ENST00000381132.2_Silent_p.L35L|RCAN1_ENST00000399272.1_Silent_p.L9L|RCAN1_ENST00000443408.2_5'UTR|RCAN1_ENST00000489903.1_5'UTR	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	90					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						ACGTCCTAAAGAGGGACTCAA	0.378																																						uc002yue.2		NaN																	0					0						c.(268-270)CTC>CTG		calcipressin 1 isoform a							85.0	85.0	85.0					21																	35895991		2203	4300	6503	SO:0001819	synonymous_variant	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35895991G>C		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.270C>G	21.37:g.35895991G>C						RCAN1_uc002yuc.2_Silent_p.L9L|RCAN1_uc002yud.2_5'UTR|RCAN1_uc002yub.2_Silent_p.L35L|RCAN1_uc011adx.1_Silent_p.L35L	p.L90L	NM_004414	NP_004405	P53805	RCAN1_HUMAN			2	342	-			90					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Silent	SNP	ENST00000313806.4	37	c.270C>G	CCDS13637.1																																																																																				0.378	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1				30	59	0	0	0	0.008361	0	30	59		
RUNX1	861	broad.mit.edu	37	21	36252962	36252962	+	Missense_Mutation	SNP	C	C	G	rs74315451		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:36252962C>G	ENST00000344691.4	-	2	1896	c.319G>C	c.(319-321)Gct>Cct	p.A107P	RUNX1_ENST00000325074.5_Missense_Mutation_p.A122P|RUNX1_ENST00000300305.3_Missense_Mutation_p.A134P|RUNX1_ENST00000399240.1_Missense_Mutation_p.A107P|RUNX1_ENST00000437180.1_Missense_Mutation_p.A134P|RUNX1_ENST00000358356.5_Missense_Mutation_p.A107P|RUNX1_ENST00000486278.2_Missense_Mutation_p.A110P	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	107	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TCATTGCCAGCCATCACAGTG	0.488			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	uc002yuh.2		NaN		Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4		AML|preB- ALL|T-ALL		0		p.R107C(12)|p.R107H(2)		haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387	GRCh37	CM021675	RUNX1	M	rs74315451	c.(319-321)GCT>CCT		runt-related transcription factor 1 isoform							126.0	106.0	113.0					21																	36252962		2203	4300	6503	SO:0001583	missense	861	Platelet_disorder_associated_with_Myeloid_Malignancies			myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36252962C>G	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.319G>C	21.37:g.36252962C>G	ENSP00000340690:p.Ala107Pro					RUNX1_uc002yui.2_Missense_Mutation_p.A107P|RUNX1_uc010gmu.2_Missense_Mutation_p.A134P|RUNX1_uc010gmv.2_Missense_Mutation_p.A134P|RUNX1_uc002yuj.3_Missense_Mutation_p.A2P|RUNX1_uc002yuk.3_Missense_Mutation_p.A134P|RUNX1_uc002yum.1_Missense_Mutation_p.A2P|RUNX1_uc010gmw.1_Missense_Mutation_p.A134P|RUNX1_uc002yuo.1_Missense_Mutation_p.A107P|RUNX1_uc002yur.1_Missense_Mutation_p.A2P	p.A107P	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN			2	1897	-			107	A->T: Loss of heterodimerization.		Runt.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	c.319G>C	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406563	0.96051	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278;ENST00000455571	D;D;D;D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	5.31	5.31	0.75309	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	M	0.90977	3.165	0.80722	A	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.997;0.997;0.999;0.999;0.999	D	0.97626	1.0139	9	0.87932	D	0	-17.952	19.3355	0.94316	0.0:1.0:0.0:0.0	.	134;107;107;110;134;122;107	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	P	107;134;134;122;107;110;107;122;110;121	ENSP00000340690:A107P;ENSP00000300305:A134P;ENSP00000409227:A134P;ENSP00000319459:A122P;ENSP00000382184:A107P;ENSP00000351123:A107P;ENSP00000382182:A122P;ENSP00000438019:A110P;ENSP00000388189:A121P	ENSP00000300305:A134P	A	-	1	0	RUNX1	35174832	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	7.445000	0.80570	2.652000	0.90054	0.655000	0.94253	GCT		0.488	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1				19	20	0	0	0	0.007413	0	19	20		
DOPEY2	9980	broad.mit.edu	37	21	37642413	37642413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:37642413C>T	ENST00000399151.3	+	27	5675	c.5590C>T	c.(5590-5592)Cag>Tag	p.Q1864*		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1864					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCCAACCTCAGGCCTCTCT	0.527																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(5590-5592)CAG>TAG		pad-1-like							100.0	102.0	101.0					21																	37642413		2203	4300	6503	SO:0001587	stop_gained	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37642413C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5590C>T	21.37:g.37642413C>T	ENSP00000382104:p.Gln1864*					DOPEY2_uc011aeb.1_Nonsense_Mutation_p.Q1813*	p.Q1864*	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			27	5669	+			1864					D3DSG5|Q6PJQ7|Q9UEZ3	Nonsense_Mutation	SNP	ENST00000399151.3	37	c.5590C>T	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	47	13.131377	0.99722	.	.	ENSG00000142197	ENST00000399151	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	18.3124	0.90204	0.0:1.0:0.0:0.0	.	.	.	.	X	1864	.	ENSP00000382104:Q1864X	Q	+	1	0	DOPEY2	36564283	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.300000	0.78841	2.320000	0.78422	0.650000	0.86243	CAG		0.527	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		61	62	0	0	0	0.01441	0	61	62		
ETS2	2114	broad.mit.edu	37	21	40191551	40191551	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:40191551G>A	ENST00000360214.3	+	9	1396	c.936G>A	c.(934-936)gaG>gaA	p.E312E	ETS2_ENST00000360938.3_Silent_p.E312E	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	312					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CTTCCTTCGAGAGCTTCGAAG	0.547																																						uc002yxg.2		NaN																	0				ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(934-936)GAG>GAA		v-ets erythroblastosis virus E26 oncogene							92.0	77.0	82.0					21																	40191551		2203	4300	6503	SO:0001819	synonymous_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40191551G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.936G>A	21.37:g.40191551G>A						ETS2_uc002yxf.2_Silent_p.E452E	p.E312E	NM_005239	NP_005230	P15036	ETS2_HUMAN			8	1132	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	312					A6NM68|D3DSH6|Q53Y89	Silent	SNP	ENST00000360214.3	37	c.936G>A	CCDS13659.1																																																																																				0.547	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1				7	20	0	0	0	0.001984	0	7	20		
MX2	4600	broad.mit.edu	37	21	42778893	42778893	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:42778893G>A	ENST00000330714.3	+	13	2057	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	625	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CTCCTTTACTGAAATAGGCAT	0.488																																						uc002yzf.1		NaN																	0				ovary(2)	2						c.(1873-1875)GAA>AAA		myxovirus resistance protein 2							80.0	78.0	78.0					21																	42778893		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42778893G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1873G>A	21.37:g.42778893G>A	ENSP00000333657:p.Glu625Lys					MX2_uc002yzg.1_Missense_Mutation_p.E348K|MX2_uc010gop.1_Missense_Mutation_p.E107K	p.E625K	NM_002463	NP_002454	P20592	MX2_HUMAN			13	1977	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	625			GED.		B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1873G>A	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.674948	0.67928	.	.	ENSG00000183486	ENST00000330714;ENST00000398632	T	0.56941	0.43	3.88	3.88	0.44766	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.201819	0.41001	U	0.000963	T	0.72819	0.3508	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.77848	-0.2435	10	0.87932	D	0	.	12.0345	0.53417	0.0:0.0:1.0:0.0	.	625	P20592	MX2_HUMAN	K	625;99	ENSP00000333657:E625K	ENSP00000333657:E625K	E	+	1	0	MX2	41700763	0.978000	0.34361	0.031000	0.17742	0.002000	0.02628	4.474000	0.60203	2.120000	0.65058	0.585000	0.79938	GAA		0.488	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1		NM_002463		41	41	0	0	0	0.010771	0	41	41		
MX1	4599	broad.mit.edu	37	21	42821118	42821118	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:42821118G>A	ENST00000398600.2	+	16	2353	c.1328G>A	c.(1327-1329)aGa>aAa	p.R443K	MX1_ENST00000455164.2_Missense_Mutation_p.R443K|MX1_ENST00000398598.3_Missense_Mutation_p.R443K|MX1_ENST00000288383.6_Missense_Mutation_p.R420K	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	443	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TATCGTGGTAGAGAGCTGCCA	0.383																																						uc002yzh.2		NaN																	0				ovary(1)	1						c.(1327-1329)AGA>AAA		myxovirus resistance protein 1							81.0	90.0	87.0					21																	42821118		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42821118G>A		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1328G>A	21.37:g.42821118G>A	ENSP00000381601:p.Arg443Lys					MX1_uc002yzi.2_Missense_Mutation_p.R443K|MX1_uc010goq.2_Missense_Mutation_p.R443K	p.R443K	NM_001144925	NP_001138397	P20591	MX1_HUMAN			16	2275	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	443					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1328G>A	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551688	0.45487	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	4.81	3.0	0.34707	Dynamin central domain (1);	0.053934	0.64402	N	0.000001	T	0.65811	0.2727	L	0.50333	1.59	0.43304	D	0.995301	B	0.27286	0.174	B	0.36092	0.217	T	0.63211	-0.6688	10	0.35671	T	0.21	-15.39	10.2649	0.43449	0.1685:0.0:0.8315:0.0	.	443	P20591	MX1_HUMAN	K	443;443;443;420	ENSP00000381601:R443K;ENSP00000381599:R443K;ENSP00000410523:R443K;ENSP00000288383:R420K	ENSP00000288383:R420K	R	+	2	0	MX1	41742988	1.000000	0.71417	0.932000	0.37286	0.756000	0.42949	3.235000	0.51328	1.343000	0.45638	-0.126000	0.14955	AGA		0.383	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2				20	81	0	0	0	0.012319	0	20	81		
UBASH3A	53347	broad.mit.edu	37	21	43867289	43867289	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:43867289G>C	ENST00000319294.6	+	15	2002	c.1971G>C	c.(1969-1971)tgG>tgC	p.W657C	UBASH3A_ENST00000291535.6_Missense_Mutation_p.W619C|UBASH3A_ENST00000398367.1_3'UTR	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	657	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGAGGAACTGGATCTCAGGCA	0.527																																						uc002zbe.2		NaN																	0				ovary(3)	3						c.(1969-1971)TGG>TGC		ubiquitin associated and SH3 domain containing,							118.0	121.0	120.0					21																	43867289		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43867289G>C	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1971G>C	21.37:g.43867289G>C	ENSP00000317327:p.Trp657Cys					UBASH3A_uc002zbf.2_Missense_Mutation_p.W619C|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_3'UTR	p.W657C	NM_018961	NP_061834	P57075	UBS3A_HUMAN			15	2007	+			657			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.1971G>C	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368802	0.24771	.	.	ENSG00000160185	ENST00000291535;ENST00000319294	T;T	0.08008	3.14;3.14	4.98	4.09	0.47781	.	0.239499	0.30302	N	0.009929	T	0.08133	0.0203	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.53313	0.723;0.666	T	0.41822	-0.9487	10	0.39692	T	0.17	-11.7509	11.8935	0.52644	0.0:0.3389:0.661:0.0	.	619;657	P57075-2;P57075	.;UBS3A_HUMAN	C	619;657	ENSP00000291535:W619C;ENSP00000317327:W657C	ENSP00000291535:W619C	W	+	3	0	UBASH3A	42740358	0.998000	0.40836	0.943000	0.38184	0.004000	0.04260	1.464000	0.35288	1.065000	0.40693	-0.302000	0.09304	TGG		0.527	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1		NM_001001895		38	107	0	0	0	0.004289	0	38	107		
UBASH3A	53347	broad.mit.edu	37	21	43867303	43867303	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:43867303G>T	ENST00000319294.6	+	15	2016	c.1985G>T	c.(1984-1986)tGa>tTa	p.*662L	UBASH3A_ENST00000291535.6_Nonstop_Mutation_p.*624L|UBASH3A_ENST00000398367.1_3'UTR	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	0					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCAGGCAACTGAGAGCCACGG	0.542																																						uc002zbe.2		NaN																	0				ovary(3)	3						c.(1984-1986)TGA>TTA		ubiquitin associated and SH3 domain containing,							104.0	106.0	105.0					21																	43867303		2203	4300	6503	SO:0001578	stop_lost	53347					cytosol|nucleus		g.chr21:43867303G>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1985G>T	21.37:g.43867303G>T	ENSP00000317327:p.*662Leuext*4					UBASH3A_uc002zbf.2_Nonstop_Mutation_p.*624L|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_3'UTR	p.*662L	NM_018961	NP_061834	P57075	UBS3A_HUMAN			15	2021	+			662					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Nonstop_Mutation	SNP	ENST00000319294.6	37	c.1985G>T	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459697	0.26248	.	.	ENSG00000160185	ENST00000291535;ENST00000319294	.	.	.	4.98	-1.86	0.07760	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3071	0.37881	0.7235:0.0:0.2765:0.0	.	.	.	.	L	624;662	.	.	X	+	2	2	UBASH3A	42740372	0.364000	0.24997	0.004000	0.12327	0.204000	0.24138	0.380000	0.20602	-0.223000	0.09943	0.563000	0.77884	TGA		0.542	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1		NM_001001895		34	98	1	0	6.00712e-18	0.012213	6.34329e-18	34	98		
TRAPPC10	7109	broad.mit.edu	37	21	45503018	45503018	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:45503018G>C	ENST00000291574.4	+	14	2248	c.2073G>C	c.(2071-2073)acG>acC	p.T691T		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	691					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCTTGAACACGACTGGGATTA	0.547																																						uc002zea.2		NaN																	0				ovary(1)|skin(1)	2						c.(2071-2073)ACG>ACC		trafficking protein particle complex 10							79.0	77.0	78.0					21																	45503018		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45503018G>C	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2073G>C	21.37:g.45503018G>C						TRAPPC10_uc010gpo.2_Silent_p.T402T|TRAPPC10_uc011afa.1_Silent_p.T110T	p.T691T	NM_003274	NP_003265	P48553	TPC10_HUMAN			14	2242	+			691					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.2073G>C	CCDS13704.1																																																																																				0.547	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274		26	72	0	0	0	0.00333	0	26	72		
TRAPPC10	7109	broad.mit.edu	37	21	45503079	45503079	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:45503079C>T	ENST00000291574.4	+	14	2309	c.2134C>T	c.(2134-2136)Cta>Tta	p.L712L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	712					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGCTCCTCTCTAGAGATGCC	0.557																																						uc002zea.2		NaN																	0				ovary(1)|skin(1)	2						c.(2134-2136)CTA>TTA		trafficking protein particle complex 10							79.0	78.0	79.0					21																	45503079		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45503079C>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2134C>T	21.37:g.45503079C>T						TRAPPC10_uc010gpo.2_Silent_p.L423L|TRAPPC10_uc011afa.1_Silent_p.L131L	p.L712L	NM_003274	NP_003265	P48553	TPC10_HUMAN			14	2303	+			712					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.2134C>T	CCDS13704.1																																																																																				0.557	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274		72	80	0	0	0	0.01441	0	72	80		
TRAPPC10	7109	broad.mit.edu	37	21	45503092	45503092	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:45503092C>T	ENST00000291574.4	+	14	2322	c.2147C>T	c.(2146-2148)tCa>tTa	p.S716L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	716					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAGATGCCCTCAGGGGTGGCT	0.567																																						uc002zea.2		NaN																	0				ovary(1)|skin(1)	2						c.(2146-2148)TCA>TTA		trafficking protein particle complex 10							84.0	83.0	83.0					21																	45503092		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45503092C>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2147C>T	21.37:g.45503092C>T	ENSP00000291574:p.Ser716Leu					TRAPPC10_uc010gpo.2_Missense_Mutation_p.S427L|TRAPPC10_uc011afa.1_Missense_Mutation_p.S135L	p.S716L	NM_003274	NP_003265	P48553	TPC10_HUMAN			14	2316	+			716					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.2147C>T	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737336	0.49045	.	.	ENSG00000160218	ENST00000291574	T	0.25579	1.79	5.73	5.73	0.89815	.	0.390085	0.29438	N	0.012150	T	0.20941	0.0504	N	0.19112	0.55	0.53688	D	0.999976	B;B	0.25955	0.062;0.138	B;B	0.21708	0.036;0.022	T	0.02925	-1.1093	10	0.44086	T	0.13	.	19.5017	0.95097	0.0:1.0:0.0:0.0	.	16;716	B4DI17;P48553	.;TPC10_HUMAN	L	716	ENSP00000291574:S716L	ENSP00000291574:S716L	S	+	2	0	TRAPPC10	44327520	0.859000	0.29813	0.893000	0.35052	0.107000	0.19398	4.612000	0.61169	2.702000	0.92279	0.655000	0.94253	TCA		0.567	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274		79	91	0	0	0	0.01441	0	79	91		
TRPM2	7226	broad.mit.edu	37	21	45789113	45789113	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:45789113G>A	ENST00000397928.1	+	5	1103	c.658G>A	c.(658-660)Gag>Aag	p.E220K	TRPM2_ENST00000397932.2_Missense_Mutation_p.E220K|TRPM2_ENST00000300482.5_Missense_Mutation_p.E220K|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.E220K	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	220					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCAGGTAGGCGAGGCGGTGCG	0.682																																						uc002zet.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(658-660)GAG>AAG		transient receptor potential cation channel,							45.0	40.0	41.0					21																	45789113		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45789113G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.658G>A	21.37:g.45789113G>A	ENSP00000381023:p.Glu220Lys					TRPM2_uc002zeu.1_Missense_Mutation_p.E220K|TRPM2_uc002zew.1_Missense_Mutation_p.E220K|TRPM2_uc010gpt.1_Missense_Mutation_p.E220K|TRPM2_uc002zex.1_Missense_Mutation_p.E6K	p.E220K	NM_003307	NP_003298	O94759	TRPM2_HUMAN			6	871	+			220			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.658G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975002	0.53720	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	3.51	3.51	0.40186	.	0.366863	0.25639	U	0.029286	T	0.81437	0.4822	L	0.60845	1.875	0.51012	D	0.999901	D;D	0.69078	0.997;0.997	P;P	0.53593	0.73;0.73	D	0.84842	0.0808	10	0.72032	D	0.01	-28.6004	15.576	0.76387	0.0:0.0:1.0:0.0	.	220;220	E9PGK7;O94759	.;TRPM2_HUMAN	K	220	ENSP00000300482:E220K;ENSP00000381023:E220K;ENSP00000300481:E220K;ENSP00000381026:E220K	ENSP00000300481:E220K	E	+	1	0	TRPM2	44613541	0.994000	0.37717	0.643000	0.29450	0.102000	0.19082	2.394000	0.44450	1.951000	0.56629	0.467000	0.42956	GAG		0.682	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		NM_003307		5	9	0	0	0	0.001168	0	5	9		
CCT8L2	150160	broad.mit.edu	37	22	17072537	17072537	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:17072537C>T	ENST00000359963.3	-	1	1163	c.904G>A	c.(904-906)Gag>Aag	p.E302K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	302					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTGAGGGTCTCCTCGTCGACC	0.493																																						uc002zlp.1		NaN																	0				ovary(1)	1						c.(904-906)GAG>AAG		T-complex protein 1							197.0	175.0	182.0					22																	17072537		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072537C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.904G>A	22.37:g.17072537C>T	ENSP00000353048:p.Glu302Lys						p.E302K	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1164	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	302					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.904G>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	0.479	-0.880598	0.02530	.	.	ENSG00000198445	ENST00000359963	T	0.76060	-0.99	1.98	-1.97	0.07503	.	3.279180	0.01302	N	0.010339	T	0.49915	0.1585	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41088	-0.9528	10	0.66056	D	0.02	0.0838	2.6382	0.04964	0.0:0.2408:0.2612:0.4979	.	302	Q96SF2	TCPQM_HUMAN	K	302	ENSP00000353048:E302K	ENSP00000353048:E302K	E	-	1	0	CCT8L2	15452537	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-1.553000	0.02174	-0.738000	0.04817	0.379000	0.24179	GAG		0.493	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1				36	88	0	0	0	0.007835	0	36	88		
PEX26	55670	broad.mit.edu	37	22	18566437	18566437	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:18566437G>A	ENST00000329627.7	+	4	812	c.606G>A	c.(604-606)gcG>gcA	p.A202A	PEX26_ENST00000399744.3_Silent_p.A202A|PEX26_ENST00000428061.2_Silent_p.A202A	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	202					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTCACACAGCGAGGCAGCAGC	0.572																																						uc002znp.3		NaN																	0				skin(1)	1						c.(604-606)GCG>GCA		peroxisome biogenesis factor 26							83.0	78.0	80.0					22																	18566437		2203	4300	6503	SO:0001819	synonymous_variant	55670				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding	g.chr22:18566437G>A	AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.606G>A	22.37:g.18566437G>A						TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Silent_p.A202A|PEX26_uc002znt.2_Silent_p.A202A	p.A202A	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN			4	815	+			202			Cytoplasmic (Potential).		F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Silent	SNP	ENST00000329627.7	37	c.606G>A	CCDS13750.1																																																																																				0.572	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3		NM_017929		15	24	0	0	0	0.006122	0	15	24		
HIRA	7290	broad.mit.edu	37	22	19418988	19418988	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:19418988C>T	ENST00000263208.5	-	1	268	c.12G>A	c.(10-12)ctG>ctA	p.L4L	HIRA_ENST00000340170.4_Silent_p.L4L|HIRA_ENST00000464189.1_5'Flank|HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000333130.3_5'Flank	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	4					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGGTCGGCTTCAGGAGCTTCA	0.756																																						uc002zpf.1		NaN																	0				ovary(1)	1						c.(10-12)CTG>CTA		HIR histone cell cycle regulation defective							15.0	21.0	19.0					22																	19418988		2090	4124	6214	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19418988C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.12G>A	22.37:g.19418988C>T						HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Silent_p.L4L|HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|MRPL40_uc002zpg.2_5'Flank|MRPL40_uc002zph.2_5'Flank	p.L4L	NM_003325	NP_003316	P54198	HIRA_HUMAN			1	232	-	Colorectal(54;0.0993)		4					Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.12G>A	CCDS13759.1																																																																																				0.756	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2		NM_003325		7	12	0	0	0	0.00308	0	7	12		
SERPIND1	3053	broad.mit.edu	37	22	21141329	21141329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:21141329G>A	ENST00000215727.5	+	5	1758	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.R492K	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	492					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R492T(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	TTCATGGGAAGAGTGGCCAAC	0.562																																						uc002ztb.1		NaN																	2	Substitution - Missense(2)		endometrium(2)		0						c.(1474-1476)AGA>AAA		heparin cofactor II precursor	Ardeparin(DB00407)						77.0	66.0	70.0					22																	21141329		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21141329G>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1475G>A	22.37:g.21141329G>A	ENSP00000215727:p.Arg492Lys					PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.R520K	p.R492K	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		5	1542	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	492					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.1475G>A	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804561	0.70682	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.84442	-1.85;-1.85	4.72	2.58	0.30949	Serpin domain (3);	0.101636	0.64402	N	0.000006	D	0.86830	0.6027	L	0.45137	1.4	0.44110	D	0.99688	P;P	0.47677	0.899;0.899	P;P	0.62885	0.908;0.908	T	0.83229	-0.0064	10	0.32370	T	0.25	.	11.2207	0.48853	0.1518:0.0:0.8482:0.0	.	492;492	Q8IVC0;P05546	.;HEP2_HUMAN	K	492	ENSP00000215727:R492K;ENSP00000384050:R492K	ENSP00000215727:R492K	R	+	2	0	SERPIND1	19471329	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.637000	0.67854	0.587000	0.29643	0.655000	0.94253	AGA		0.562	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1		NM_000185		7	37	0	0	0	0.004482	0	7	37		
SMARCB1	6598	broad.mit.edu	37	22	24159103	24159103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:24159103G>A	ENST00000263121.7	+	6	971	c.775G>A	c.(775-777)Gac>Aac	p.D259N	SMARCB1_ENST00000477836.1_3'UTR|SMARCB1_ENST00000407422.3_Missense_Mutation_p.D250N|SMARCB1_ENST00000407082.3_Missense_Mutation_p.D213N|SMARCB1_ENST00000344921.6_Missense_Mutation_p.D268N	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	259	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(3)|p.D259fs*26(1)|p.E210fs*15(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GGACCAGTCAGACCAGCGCGT	0.582			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																uc002zyb.2		NaN	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	D|N|F|S	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid 		5	Unknown(3)|Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.?(3)|p.D259fs*26(1)|p.E210fs*15(1)	central_nervous_system(3)|soft_tissue(2)	soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407						c.(775-777)GAC>AAC		SWI/SNF related, matrix associated, actin							106.0	80.0	89.0					22																	24159103		2203	4300	6503	SO:0001583	missense	6598	Rhabdoid_Predisposition_syndrome|Schwannomatosis			cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24159103G>A	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.775G>A	22.37:g.24159103G>A	ENSP00000263121:p.Asp259Asn					SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.D250N|SMARCB1_uc002zyd.2_Missense_Mutation_p.D268N	p.D259N	NM_003073	NP_003064	Q12824	SNF5_HUMAN			6	982	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	259			2.|2 X approximate tandem repeats.		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	c.775G>A	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268924	0.95429	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.06	5.06	0.68205	.	0.087573	0.85682	D	0.000000	D	0.90338	0.6977	M	0.91717	3.235	0.80722	D	1	D;D;D	0.69078	0.983;0.997;0.995	P;D;D	0.71870	0.844;0.943;0.975	D	0.92227	0.5789	10	0.66056	D	0.02	-15.7271	17.8543	0.88758	0.0:0.0:1.0:0.0	.	268;250;259	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	N	268;259;250;213	ENSP00000340883:D268N;ENSP00000263121:D259N;ENSP00000383984:D250N;ENSP00000385226:D213N	ENSP00000263121:D259N	D	+	1	0	SMARCB1	22489103	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	9.744000	0.98853	2.546000	0.85860	0.585000	0.79938	GAC		0.582	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1		NM_003073		11	40	0	0	0	0.013537	0	11	40		
UPB1	51733	broad.mit.edu	37	22	24917979	24917979	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:24917979C>T	ENST00000326010.5	+	8	1243	c.899C>T	c.(898-900)tCg>tTg	p.S300L	UPB1_ENST00000498140.1_Intron|UPB1_ENST00000413389.2_Missense_Mutation_p.S232L	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	300	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GAGTTTACCTCGGGAGATGGA	0.522											OREG0026411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003aaf.2		NaN																	0				ovary(2)	2						c.(898-900)TCG>TTG		beta-ureidopropionase							160.0	137.0	145.0					22																	24917979		2203	4300	6503	SO:0001583	missense	51733				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	g.chr22:24917979C>T	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.899C>T	22.37:g.24917979C>T	ENSP00000324343:p.Ser300Leu		OREG0026411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	775	UPB1_uc003aae.2_Missense_Mutation_p.S232L|UPB1_uc011ajt.1_Missense_Mutation_p.S300L	p.S300L	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN			8	1020	+	Colorectal(2;0.0339)		300			CN hydrolase.		A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	c.899C>T	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168031	0.94768	.	.	ENSG00000100024	ENST00000413389;ENST00000326010	D;D	0.87103	-1.73;-2.21	5.4	5.4	0.78164	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.95535	0.8549	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.96438	0.9324	10	0.87932	D	0	-7.7459	18.5524	0.91069	0.0:1.0:0.0:0.0	.	300;232	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	L	232;300	ENSP00000406057:S232L;ENSP00000324343:S300L	ENSP00000324343:S300L	S	+	2	0	UPB1	23247979	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	6.980000	0.76160	2.691000	0.91804	0.655000	0.94253	TCG		0.522	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1				7	21	0	0	0	0.00308	0	7	21		
LRP5L	91355	broad.mit.edu	37	22	25747768	25747768	+	Nonstop_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:25747768A>T	ENST00000402785.2	-	4	853	c.757T>A	c.(757-759)Tga>Aga	p.*253R	LRP5L_ENST00000444995.3_Silent_p.A223A|LRP5L_ENST00000402859.2_Nonstop_Mutation_p.*253R			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	0					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CATGTCACTCAGCAGTTCCAG	0.577																																						uc003abs.2		NaN																	0					0						c.(757-759)TGA>AGA		low density lipoprotein receptor-related protein							109.0	100.0	103.0					22																	25747768		2201	4300	6501	SO:0001578	stop_lost	91355							g.chr22:25747768A>T	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.757T>A	22.37:g.25747768A>T						LRP5L_uc011ajz.1_Nonstop_Mutation_p.*253R|LRP5L_uc010guw.1_Silent_p.A223A	p.*253R	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN			4	3222	-			253					B0QYF3|B0QYF4|B2RPI5	Nonstop_Mutation	SNP	ENST00000402785.2	37	c.757T>A	CCDS33626.1	.	.	.	.	.	.	.	.	.	.	a	9.321	1.058072	0.19987	.	.	ENSG00000100068	ENST00000402859;ENST00000402785	.	.	.	1.99	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9474	0.29995	1.0:0.0:0.0:0.0	.	.	.	.	R	253	.	.	X	-	1	0	LRP5L	24077768	0.993000	0.37304	1.000000	0.80357	0.249000	0.25844	8.202000	0.89737	1.169000	0.42739	0.163000	0.16589	TGA		0.577	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2		NM_182492		18	49	0	0	0	0.008871	0	18	49		
NEFH	4744	broad.mit.edu	37	22	29886470	29886470	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:29886470G>C	ENST00000310624.6	+	4	2874	c.2841G>C	c.(2839-2841)aaG>aaC	p.K947N		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	953	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAGCAGAGAAGAAGGAGGCAG	0.512																																						uc003afo.2		NaN																	0					0						c.(2839-2841)AAG>AAC		neurofilament, heavy polypeptide 200kDa							104.0	97.0	99.0					22																	29886470		2202	4299	6501	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29886470G>C		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2841G>C	22.37:g.29886470G>C	ENSP00000311997:p.Lys947Asn					NEFH_uc003afp.2_Missense_Mutation_p.R13T	p.K947N	NM_021076	NP_066554	P12036	NFH_HUMAN			4	2912	+			953			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.2841G>C	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	5.658	0.305988	0.10733	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.86694	-2.16	5.19	1.66	0.24008	.	0.115558	0.38959	N	0.001501	T	0.81451	0.4825	L	0.40543	1.245	0.09310	N	0.999999	P	0.52842	0.956	P	0.46796	0.527	T	0.73591	-0.3934	10	0.87932	D	0	.	5.7523	0.18154	0.2916:0.1382:0.5703:0.0	.	953	P12036	NFH_HUMAN	N	898;947	ENSP00000311997:K947N	ENSP00000311997:K947N	K	+	3	2	NEFH	28216470	1.000000	0.71417	0.996000	0.52242	0.192000	0.23643	0.629000	0.24538	0.817000	0.34445	0.655000	0.94253	AAG		0.512	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2		NM_021076		15	31	0	0	0	0.00245	0	15	31		
ASCC2	84164	broad.mit.edu	37	22	30198101	30198101	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:30198101C>T	ENST00000397771.2	-	15	1627	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	ASCC2_ENST00000307790.3_Missense_Mutation_p.E484K|ASCC2_ENST00000542393.1_Missense_Mutation_p.E408K			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	484	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			ATGAAGCCCTCACCAAGGTCT	0.617																																						uc003agr.2		NaN																	0					0						c.(1450-1452)GAG>AAG		activating signal cointegrator 1 complex subunit							67.0	59.0	62.0					22																	30198101		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30198101C>T	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1450G>A	22.37:g.30198101C>T	ENSP00000380877:p.Glu484Lys					ASCC2_uc003ags.2_Intron|ASCC2_uc003agt.2_Missense_Mutation_p.E484K|ASCC2_uc011akr.1_Missense_Mutation_p.E408K	p.E484K	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		14	1555	-			484			CUE.		B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.1450G>A	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381472	0.95945	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.42900	0.96;0.96;0.96	5.64	5.64	0.86602	Ubiquitin system component Cue (3);UBA-like (1);	0.097518	0.64402	D	0.000001	T	0.59101	0.2169	L	0.51914	1.62	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.977;0.99	T	0.44892	-0.9298	10	0.23891	T	0.37	-32.1675	18.8715	0.92317	0.0:1.0:0.0:0.0	.	408;484	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	K	484;484;408	ENSP00000305502:E484K;ENSP00000380877:E484K;ENSP00000437570:E408K	ENSP00000305502:E484K	E	-	1	0	ASCC2	28528101	1.000000	0.71417	0.972000	0.41901	0.933000	0.57130	5.222000	0.65277	2.937000	0.99478	0.650000	0.86243	GAG		0.617	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1		NM_032204		5	33	0	0	0	0.001984	0	5	33		
MTFP1	51537	broad.mit.edu	37	22	30822716	30822716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:30822716G>A	ENST00000266263.5	+	2	429	c.79G>A	c.(79-81)Gag>Aag	p.E27K	MTFP1_ENST00000407550.3_Missense_Mutation_p.E27K|MTFP1_ENST00000355143.4_Missense_Mutation_p.E27K|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.E199K	NM_016498.4	NP_057582.2	Q9UDX5	MTFP1_HUMAN	mitochondrial fission process 1	27					apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(1)|lung(2)	4						CTATGCCAATGAGGTGGGCGA	0.602											OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ahw.1		NaN																	0					0						c.(79-81)GAG>AAG		mitochondrial protein 18 kDa isoform a							93.0	77.0	82.0					22																	30822716		2203	4300	6503	SO:0001583	missense	51537				apoptosis|carbon utilization	integral to membrane|mitochondrial inner membrane	carbonate dehydratase activity|zinc ion binding	g.chr22:30822716G>A	AF151076	CCDS33634.1, CCDS33635.1	22q	2010-09-02			ENSG00000242114	ENSG00000242114			26945	protein-coding gene	gene with protein product		610235				15155745, 15985469	Standard	NM_016498		Approved	MTP18, HSPC242		Q9UDX5	OTTHUMG00000151057	ENST00000266263.5:c.79G>A	22.37:g.30822716G>A	ENSP00000266263:p.Glu27Lys		OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	820	SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.E189K|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Missense_Mutation_p.E27K	p.E27K	NM_016498	NP_057582	Q9UDX5	MTFP1_HUMAN			2	227	+			27					A6NFQ5|Q9H3K1|Q9P0N6	Missense_Mutation	SNP	ENST00000266263.5	37	c.79G>A	CCDS33635.1	.	.	.	.	.	.	.	.	.	.	G	36	5.930420	0.97116	.	.	ENSG00000249590;ENSG00000242114;ENSG00000242114;ENSG00000242114	ENST00000439838;ENST00000266263;ENST00000355143;ENST00000407550	T;D	0.94376	-0.83;-3.41	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97902	1.0303	10	0.72032	D	0.01	-9.1143	18.3461	0.90322	0.0:0.0:1.0:0.0	.	27;27	Q9UDX5-2;Q9UDX5	.;MTFP1_HUMAN	K	199;27;27;27	ENSP00000415178:E199K;ENSP00000383926:E27K	ENSP00000266263:E27K	E	+	1	0	MTFP1;RP4-539M6.19	29152716	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.947000	0.93000	2.638000	0.89438	0.655000	0.94253	GAG		0.602	MTFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321126.3		NM_016498		7	19	0	0	0	0.008291	0	7	19		
PATZ1	23598	broad.mit.edu	37	22	31738885	31738885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:31738885G>A	ENST00000266269.5	-	2	1962	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	PATZ1_ENST00000215919.3_Nonsense_Mutation_p.Q445*|PATZ1_ENST00000405309.3_Nonsense_Mutation_p.Q445*|PATZ1_ENST00000351933.4_Nonsense_Mutation_p.Q445*	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	445					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GCCCCTACCTGACACTTGTGA	0.582																																						uc003akq.2		NaN																EWSR1/PATZ1(2)	0				soft_tissue(2)	2						c.(1333-1335)CAG>TAG		POZ (BTB) and AT hook containing zinc finger 1							145.0	147.0	146.0					22																	31738885		2203	4300	6503	SO:0001587	stop_gained	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31738885G>A	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1333C>T	22.37:g.31738885G>A	ENSP00000266269:p.Gln445*					PATZ1_uc003akp.2_Nonsense_Mutation_p.Q445*|PATZ1_uc003akr.2_Nonsense_Mutation_p.Q445*|PATZ1_uc003aks.2_Nonsense_Mutation_p.Q445*	p.Q445*	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			2	1994	-			445			C2H2-type 5.		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Nonsense_Mutation	SNP	ENST00000266269.5	37	c.1333C>T	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	43	10.473862	0.99412	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-13.8929	12.8173	0.57673	0.0:0.1643:0.8357:0.0	.	.	.	.	X	445	.	ENSP00000215919:Q445X	Q	-	1	0	PATZ1	30068885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.551000	0.73909	2.313000	0.78055	0.555000	0.69702	CAG		0.582	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1		NM_032052		23	89	0	0	0	0.004656	0	23	89		
SLC5A1	6523	broad.mit.edu	37	22	32495203	32495203	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:32495203C>T	ENST00000266088.4	+	12	1564	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	SLC5A1_ENST00000543737.1_Silent_p.I311I	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	438					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GCATCAGCATCGCCTGGGTGC	0.453																																						uc003amc.2		NaN																	0				skin(1)	1						c.(1312-1314)ATC>ATT		solute carrier family 5 (sodium/glucose							142.0	130.0	134.0					22																	32495203		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32495203C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1314C>T	22.37:g.32495203C>T						SLC5A1_uc011alz.1_Silent_p.I311I	p.I438I	NM_000343	NP_000334	P13866	SC5A1_HUMAN			12	1546	+			438			Helical; (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1314C>T	CCDS13902.1																																																																																				0.453	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3		NM_000343		47	127	0	0	0	0.011902	0	47	127		
APOL5	80831	broad.mit.edu	37	22	36122285	36122285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:36122285G>A	ENST00000249044.2	+	3	170	c.170G>A	c.(169-171)tGg>tAg	p.W57*		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	57					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TGCCAGAGTTGGAAAATTAAC	0.453																																						uc003aof.2		NaN																	0					0						c.(169-171)TGG>TAG		apolipoprotein L5							121.0	109.0	113.0					22																	36122285		2203	4300	6503	SO:0001587	stop_gained	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122285G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.170G>A	22.37:g.36122285G>A	ENSP00000249044:p.Trp57*						p.W57*	NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN			3	170	+			57					Q5TFL9|Q9UGW5	Nonsense_Mutation	SNP	ENST00000249044.2	37	c.170G>A	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421506	0.25639	.	.	ENSG00000128313	ENST00000249044	.	.	.	2.31	1.04	0.20106	.	0.628228	0.12858	U	0.433327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2452	0.15493	0.0:0.0:0.6597:0.3402	.	.	.	.	X	57	.	ENSP00000249044:W57X	W	+	2	0	APOL5	34452231	0.005000	0.15991	0.005000	0.12908	0.044000	0.14063	0.198000	0.17217	1.242000	0.43836	0.591000	0.81541	TGG		0.453	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1		NM_030642		14	54	0	0	0	0.00245	0	14	54		
APOL5	80831	broad.mit.edu	37	22	36122301	36122301	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:36122301G>A	ENST00000249044.2	+	3	186	c.186G>A	c.(184-186)ttG>ttA	p.L62L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	62					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TTAACAATTTGATGTCAACTG	0.458																																						uc003aof.2		NaN																	0					0						c.(184-186)TTG>TTA		apolipoprotein L5							122.0	110.0	114.0					22																	36122301		2203	4300	6503	SO:0001819	synonymous_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122301G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.186G>A	22.37:g.36122301G>A							p.L62L	NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN			3	186	+			62					Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	c.186G>A	CCDS13920.1																																																																																				0.458	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1		NM_030642		30	34	0	0	0	0.012213	0	30	34		
MYH9	4627	broad.mit.edu	37	22	36690984	36690984	+	Silent	SNP	C	C	T	rs540687260		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:36690984C>T	ENST00000216181.5	-	27	3854	c.3624G>A	c.(3622-3624)acG>acA	p.T1208T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1208					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCACCCGCTTCGTCTGCTCCA	0.662			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				C|||	1	0.000199681	0.0	0.0	5008	,	,		17108	0.001		0.0	False		,,,				2504	0.0					uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(3622-3624)ACG>ACA		myosin, heavy polypeptide 9, non-muscle							87.0	85.0	86.0					22																	36690984		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36690984C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3624G>A	22.37:g.36690984C>T							p.T1208T	NM_002473	NP_002464	P35579	MYH9_HUMAN			27	3855	-			1208			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.3624G>A	CCDS13927.1																																																																																				0.662	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		31	74	0	0	0	0.013726	0	31	74		
NCF4	4689	broad.mit.edu	37	22	37268449	37268449	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:37268449C>G	ENST00000248899.6	+	7	793	c.609C>G	c.(607-609)atC>atG	p.I203M	CTA-833B7.2_ENST00000431290.1_RNA|NCF4_ENST00000397147.4_Missense_Mutation_p.I203M|CTA-833B7.2_ENST00000330602.2_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	203	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	TCAGTCGGATCAACAAAGACT	0.473																																						uc003apy.3		NaN																	0				ovary(1)	1						c.(607-609)ATC>ATG		neutrophil cytosolic factor 4 isoform 1							64.0	62.0	62.0					22																	37268449		2203	4300	6503	SO:0001583	missense	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37268449C>G	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.609C>G	22.37:g.37268449C>G	ENSP00000248899:p.Ile203Met					NCF4_uc003apz.3_Missense_Mutation_p.I203M	p.I203M	NM_000631	NP_000622	Q15080	NCF4_HUMAN			7	793	+			203			SH3.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	c.609C>G	CCDS13934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.12|17.12	3.307092|3.307092	0.60305|0.60305	.|.	.|.	ENSG00000100365|ENSG00000100365	ENST00000447071;ENST00000248899;ENST00000397147|ENST00000415063	T;T;T|.	0.48836|.	0.8;0.8;0.8|.	4.79|4.79	4.79|4.79	0.61399|0.61399	Src homology-3 domain (4);|.	0.242690|.	0.40554|.	N|.	0.001071|.	T|T	0.60996|0.60996	0.2312|0.2312	L|L	0.46614|0.46614	1.455|1.455	0.36818|0.36818	D|D	0.88626|0.88626	P;P|.	0.50066|.	0.87;0.931|.	P;P|.	0.58721|.	0.677;0.844|.	T|T	0.64123|0.64123	-0.6481|-0.6481	10|5	0.36615|.	T|.	0.2|.	-39.9149|-39.9149	13.967|13.967	0.64216|0.64216	0.1614:0.8386:0.0:0.0|0.1614:0.8386:0.0:0.0	.|.	203;203|.	A8K4F9;Q15080|.	.;NCF4_HUMAN|.	M|E	100;203;203|67	ENSP00000414958:I100M;ENSP00000248899:I203M;ENSP00000380334:I203M|.	ENSP00000248899:I203M|.	I|Q	+|+	3|1	3|0	NCF4|NCF4	35598395|35598395	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.335000|2.335000	0.43929|0.43929	2.463000|2.463000	0.83235|0.83235	0.655000|0.655000	0.94253|0.94253	ATC|CAA		0.473	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1		NM_000631		26	62	0	0	0	0.005443	0	26	62		
CSF2RB	1439	broad.mit.edu	37	22	37331726	37331726	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:37331726C>T	ENST00000403662.3	+	12	1683	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	CSF2RB_ENST00000406230.1_Silent_p.F493F|CSF2RB_ENST00000262825.5_Silent_p.F493F|CSF2RB_ENST00000536485.1_Silent_p.F434F			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	487					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCACCTGTTCCAGGTAGGAA	0.612																																						uc003aqa.3		NaN																	0				skin(2)|pancreas(1)	3						c.(1459-1461)TTC>TTT		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						38.0	35.0	36.0					22																	37331726		2203	4300	6503	SO:0001819	synonymous_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37331726C>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1461C>T	22.37:g.37331726C>T						CSF2RB_uc003aqc.3_Silent_p.F493F	p.F487F	NM_000395	NP_000386	P32927	IL3RB_HUMAN			12	1678	+			487			Cytoplasmic (Potential).		Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	c.1461C>T	CCDS13936.1																																																																																				0.612	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1		NM_000395		5	14	0	0	0	0.000602	0	5	14		
CYTH4	27128	broad.mit.edu	37	22	37688736	37688736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:37688736G>A	ENST00000248901.6	+	2	281	c.94G>A	c.(94-96)Gac>Aac	p.D32N	CYTH4_ENST00000402997.1_Missense_Mutation_p.D32N|CYTH4_ENST00000405206.3_Missense_Mutation_p.D32N|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	32					positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCTCCTGGAGGACATCCAGGT	0.617																																						uc003arf.2		NaN																	0				ovary(2)	2						c.(94-96)GAC>AAC		cytohesin 4							158.0	119.0	132.0					22																	37688736		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37688736G>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.94G>A	22.37:g.37688736G>A	ENSP00000248901:p.Asp32Asn					CYTH4_uc003ard.3_Missense_Mutation_p.D32N|CYTH4_uc003are.2_Missense_Mutation_p.D32N|CYTH4_uc011amw.1_5'UTR|CYTH4_uc010gxe.2_Intron	p.D32N	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN			2	210	+			32			Potential.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.94G>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492136	0.64074	.	.	ENSG00000100055	ENST00000457992;ENST00000248901;ENST00000422721;ENST00000402997;ENST00000405206	T;T;T;T	0.49720	0.77;3.25;0.87;0.87	4.83	4.83	0.62350	.	0.049368	0.85682	D	0.000000	T	0.61652	0.2364	M	0.78456	2.415	0.80722	D	1	B;B	0.27416	0.008;0.178	B;B	0.43155	0.022;0.41	T	0.66388	-0.5936	10	0.72032	D	0.01	.	14.8466	0.70264	0.0:0.0:1.0:0.0	.	32;45	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	N	32;32;45;32;32	ENSP00000405442:D32N;ENSP00000248901:D32N;ENSP00000385997:D32N;ENSP00000384280:D32N	ENSP00000248901:D32N	D	+	1	0	CYTH4	36018682	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.471000	0.80985	2.236000	0.73375	0.561000	0.74099	GAC		0.617	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1				23	22	0	0	0	0.014323	0	23	22		
PDGFB	5155	broad.mit.edu	37	22	39629484	39629484	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:39629484G>C	ENST00000331163.6	-	3	993	c.206C>G	c.(205-207)tCt>tGt	p.S69C	PDGFB_ENST00000381551.4_Missense_Mutation_p.S54C	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	69					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					CTCGCCTCCAGAGTGGGAGCG	0.607			T	COL1A1	DFSP																																	uc003axf.2		NaN		Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(372)	0				soft_tissue(372)|central_nervous_system(1)	373						c.(205-207)TCT>TGT		platelet-derived growth factor beta isoform 1	Becaplermin(DB00102)						60.0	60.0	60.0					22																	39629484		2203	4300	6503	SO:0001583	missense	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39629484G>C		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.206C>G	22.37:g.39629484G>C	ENSP00000330382:p.Ser69Cys					PDGFB_uc003axe.2_Missense_Mutation_p.S54C	p.S69C	NM_002608	NP_002599	P01127	PDGFB_HUMAN			3	1195	-	Melanoma(58;0.04)		69					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Missense_Mutation	SNP	ENST00000331163.6	37	c.206C>G	CCDS13987.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856857	0.32791	.	.	ENSG00000100311	ENST00000331163;ENST00000381551;ENST00000455790;ENST00000440375	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.44	4.22	0.49857	Platelet-derived growth factor, N-terminal (1);	1.081800	0.06972	N	0.818338	T	0.38825	0.1055	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.003	T	0.11567	-1.0582	10	0.52906	T	0.07	-9.0494	9.984	0.41830	0.1075:0.0:0.8925:0.0	.	69;54	P01127;G3XAG8	PDGFB_HUMAN;.	C	69;54;38;38	ENSP00000330382:S69C;ENSP00000370963:S54C;ENSP00000402306:S38C;ENSP00000405780:S38C	ENSP00000330382:S69C	S	-	2	0	PDGFB	37959430	0.758000	0.28405	0.073000	0.20177	0.883000	0.51084	1.971000	0.40530	2.563000	0.86464	0.561000	0.74099	TCT		0.607	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1		NM_002608		10	34	0	0	0	0.006214	0	10	34		
PDGFB	5155	broad.mit.edu	37	22	39639936	39639936	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:39639936G>A	ENST00000331163.6	-	1	820	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	11					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GGTAGCAGCAGAGAGACAGGA	0.711			T	COL1A1	DFSP																																	uc003axf.2		NaN		Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(372)	0				soft_tissue(372)|central_nervous_system(1)	373						c.(31-33)CTC>CTT		platelet-derived growth factor beta isoform 1	Becaplermin(DB00102)						24.0	28.0	26.0					22																	39639936		2194	4294	6488	SO:0001819	synonymous_variant	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39639936G>A		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.33C>T	22.37:g.39639936G>A							p.L11L	NM_002608	NP_002599	P01127	PDGFB_HUMAN			1	1022	-	Melanoma(58;0.04)		11					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	ENST00000331163.6	37	c.33C>T	CCDS13987.1																																																																																				0.711	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1		NM_002608		3	8	0	0	0	0.004672	0	3	8		
CACNA1I	8911	broad.mit.edu	37	22	40061947	40061947	+	Missense_Mutation	SNP	C	C	T	rs373111190		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40061947C>T	ENST00000402142.3	+	23	4040	c.4040C>T	c.(4039-4041)tCg>tTg	p.S1347L	CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1312L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1312L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1312L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1347L|CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1353L	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1347					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	ACCAACCGCTCGGACTGCATG	0.597																																						uc003ayc.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(4039-4041)TCG>TTG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	C	LEU/SER,LEU/SER	0,4296		0,0,2148	113.0	120.0	118.0		3935,4040	4.3	1.0	22		118	1,8483		0,1,4241	no	missense,missense	CACNA1I	NM_001003406.1,NM_021096.3	145,145	0,1,6389	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging,probably-damaging	1312/2189,1347/2224	40061947	1,12779	2148	4242	6390	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40061947C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4040C>T	22.37:g.40061947C>T	ENSP00000385019:p.Ser1347Leu					CACNA1I_uc003ayd.2_Missense_Mutation_p.S1312L|CACNA1I_uc003aye.2_Missense_Mutation_p.S1262L|CACNA1I_uc003ayf.2_Missense_Mutation_p.S1227L	p.S1347L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			23	4040	+	Melanoma(58;0.0749)		1347			Extracellular (Potential).|III.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.4040C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249923	0.95305	0.0	1.18E-4	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97404	-4.35;-4.31;-4.33;-4.29;-4.37;-4.28	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	L	0.51853	1.615	0.54753	D	0.999989	D;D;D;D	0.89917	0.994;1.0;0.999;1.0	P;D;D;D	0.83275	0.716;0.996;0.915;0.996	D	0.99013	1.0815	10	0.87932	D	0	.	16.7468	0.85474	0.0:1.0:0.0:0.0	.	1312;1347;1312;1347	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	L	1347;1312;1347;1312;1353;1312	ENSP00000385019:S1347L;ENSP00000384093:S1312L;ENSP00000383887:S1347L;ENSP00000385680:S1312L;ENSP00000337829:S1353L;ENSP00000383028:S1312L	ENSP00000337829:S1353L	S	+	2	0	CACNA1I	38391893	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.728000	0.84847	1.915000	0.55452	0.462000	0.41574	TCG		0.597	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1		NM_001003406		8	23	0	0	0	0.004482	0	8	23		
CACNA1I	8911	broad.mit.edu	37	22	40078519	40078519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40078519G>A	ENST00000402142.3	+	35	5683	c.5683G>A	c.(5683-5685)Gag>Aag	p.E1895K	CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1860K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1860K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1860K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1895K|CACNA1I_ENST00000336649.4_Missense_Mutation_p.E1901K	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1895					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GGACCCACCTGAGCCCATGCG	0.607																																						uc003ayc.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(5683-5685)GAG>AAG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						98.0	106.0	104.0					22																	40078519		2101	4211	6312	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40078519G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5683G>A	22.37:g.40078519G>A	ENSP00000385019:p.Glu1895Lys					CACNA1I_uc003ayd.2_Missense_Mutation_p.E1860K|CACNA1I_uc003aye.2_Missense_Mutation_p.E1810K|CACNA1I_uc003ayf.2_Missense_Mutation_p.E1775K	p.E1895K	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			35	5683	+	Melanoma(58;0.0749)		1895			Cytoplasmic (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.5683G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011874	0.35511	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96856	-4.13;-4.09;-4.11;-4.07;-4.15;-4.06	4.94	4.94	0.65067	.	1.005970	0.08016	N	0.991304	D	0.93615	0.7961	L	0.36672	1.1	0.27753	N	0.944091	B;B;B;B	0.24721	0.027;0.027;0.11;0.067	B;B;B;B	0.25291	0.037;0.037;0.059;0.027	D	0.85781	0.1361	10	0.27082	T	0.32	.	12.5894	0.56436	0.0806:0.0:0.9194:0.0	.	1860;1895;1860;1895	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	K	1895;1860;1895;1860;1901;1860	ENSP00000385019:E1895K;ENSP00000384093:E1860K;ENSP00000383887:E1895K;ENSP00000385680:E1860K;ENSP00000337829:E1901K;ENSP00000383028:E1860K	ENSP00000337829:E1901K	E	+	1	0	CACNA1I	38408465	1.000000	0.71417	0.864000	0.33941	0.429000	0.31625	4.633000	0.61318	2.286000	0.76751	0.655000	0.94253	GAG		0.607	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1		NM_001003406		23	50	0	0	0	0.007291	0	23	50		
GRAP2	9402	broad.mit.edu	37	22	40343156	40343156	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40343156G>A	ENST00000344138.4	+	2	309	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	GRAP2_ENST00000407075.3_Missense_Mutation_p.E16K|GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000543252.1_Missense_Mutation_p.E16K|GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000399090.2_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	16	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGGTGAGGATGAACTGAGCTT	0.498																																						uc003ayh.1		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(46-48)GAA>AAA		GRB2-related adaptor protein 2							196.0	175.0	182.0					22																	40343156		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40343156G>A	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.46G>A	22.37:g.40343156G>A	ENSP00000339186:p.Glu16Lys					GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Intron|GRAP2_uc011aon.1_Intron|GRAP2_uc010gya.1_Missense_Mutation_p.E16K|GRAP2_uc011aoo.1_5'UTR|GRAP2_uc011aop.1_Missense_Mutation_p.E16K|GRAP2_uc011aoq.1_Intron|GRAP2_uc003ayj.1_Missense_Mutation_p.E16K	p.E16K	NM_004810	NP_004801	O75791	GRAP2_HUMAN			2	309	+			16			SH3 1.		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.46G>A	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247040	0.95305	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000420971;ENST00000407075	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.65	5.65	0.86999	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.89982	0.4101	10	0.87932	D	0	-27.9514	16.6526	0.85220	0.0:0.0:1.0:0.0	.	16;16	Q6FI14;O75791	.;GRAP2_HUMAN	K	16	ENSP00000339186:E16K;ENSP00000446350:E16K;ENSP00000396355:E16K;ENSP00000385607:E16K	ENSP00000339186:E16K	E	+	1	0	GRAP2	38673102	1.000000	0.71417	0.978000	0.43139	0.981000	0.71138	6.111000	0.71541	2.660000	0.90430	0.557000	0.71058	GAA		0.498	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1		NM_004810		20	48	0	0	0	0.010504	0	20	48		
TNRC6B	23112	broad.mit.edu	37	22	40662285	40662285	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40662285C>G	ENST00000454349.2	+	5	2262	c.2051C>G	c.(2050-2052)tCa>tGa	p.S684*	TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.S684*|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	684	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GGGGAGCTCTCAGCCTCTACA	0.552																																						uc011aor.1		NaN																	0					0						c.(2050-2052)TCA>TGA		trinucleotide repeat containing 6B isoform 1							19.0	22.0	21.0					22																	40662285		1881	4125	6006	SO:0001587	stop_gained	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662285C>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2051C>G	22.37:g.40662285C>G	ENSP00000401946:p.Ser684*					TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.S684*|TNRC6B_uc003ayo.2_Nonsense_Mutation_p.S488*	p.S684*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			5	2262	+			684					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	ENST00000454349.2	37	c.2051C>G	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.326447|7.326447	0.98214|0.98214	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000454349;ENST00000400140;ENST00000335727	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.148250	.|0.46442	.|D	.|0.000293	T|.	0.73281|.	0.3567|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69113|.	-0.5231|.	3|.	.|0.30854	.|T	.|0.27	-5.0534|-5.0534	19.2242|19.2242	0.93812|0.93812	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	427|684	.|.	.|ENSP00000338371:S684X	Q|S	+|+	1|2	0|0	TNRC6B|TNRC6B	38992231|38992231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	5.303000|5.303000	0.65738|0.65738	2.559000|2.559000	0.86315|0.86315	0.313000|0.313000	0.20887|0.20887	CAG|TCA		0.552	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding					3	4	0	0	0	0.004672	0	3	4		
MKL1	57591	broad.mit.edu	37	22	40805700	40805700	+	IGR	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40805700G>A	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Silent_p.L729L	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						AGCAGCCCCTGAAGGAGGGCG	0.662			T	RBM15	acute megakaryocytic leukemia																																	uc003ayu.1		NaN		Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				ovary(2)	2						c.(2185-2187)CTG>CTA		small G protein signaling modulator 3							84.0	88.0	87.0					22																	40805700		2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40805700G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40805700G>A						SGSM3_uc011aot.1_Silent_p.L640L|SGSM3_uc010gyd.1_Silent_p.L800L	p.L729L	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN			22	2396	+			729					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.2187G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	g	0.369	-0.934908	0.02340	.	.	ENSG00000100359	ENST00000417424	.	.	.	4.85	3.81	0.43845	.	.	.	.	.	T	0.70395	0.3219	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70215	-0.4933	4	.	.	.	.	15.3674	0.74535	0.0:0.1404:0.8596:0.0	.	.	.	.	K	82	.	.	E	+	1	0	SGSM3	39135646	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	5.972000	0.70448	1.161000	0.42604	-0.308000	0.09152	GAA		0.662	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1		NM_020831		16	38	0	0	0	0.010504	0	16	38		
PKDREJ	10343	broad.mit.edu	37	22	46654093	46654093	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:46654093C>G	ENST00000253255.5	-	1	5126	c.5127G>C	c.(5125-5127)ctG>ctC	p.L1709L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1709					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACTCAGAAACAGGAGTGCTC	0.403																																						uc003bhh.2		NaN																	0				breast(3)|ovary(2)	5						c.(5125-5127)CTG>CTC		receptor for egg jelly-like protein precursor							177.0	147.0	157.0					22																	46654093		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654093C>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5127G>C	22.37:g.46654093C>G							p.L1709L	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5127	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1709			Helical; (Potential).		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.5127G>C	CCDS14073.1																																																																																				0.403	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1		NM_006071		9	89	0	0	0	0.006214	0	9	89		
TRABD	80305	broad.mit.edu	37	22	50635718	50635718	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:50635718G>A	ENST00000303434.4	+	6	588	c.469G>A	c.(469-471)Gca>Aca	p.A157T	TRABD_ENST00000395829.1_Missense_Mutation_p.A157T|RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000395827.1_Missense_Mutation_p.A157T|TRABD_ENST00000380909.4_Missense_Mutation_p.A157T	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	157										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GAAGGTGTCTGCACACATCAC	0.662																																						uc003bjq.1		NaN																	0					0						c.(469-471)GCA>ACA		TraB domain containing							66.0	69.0	68.0					22																	50635718		2203	4300	6503	SO:0001583	missense	80305							g.chr22:50635718G>A	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.469G>A	22.37:g.50635718G>A	ENSP00000305664:p.Ala157Thr					TRABD_uc003bjr.1_Missense_Mutation_p.A41T|TRABD_uc003bjs.1_Missense_Mutation_p.A157T|TRABD_uc003bjt.1_Missense_Mutation_p.A157T|TRABD_uc003bju.1_Missense_Mutation_p.A157T|TRABD_uc003bjv.2_Missense_Mutation_p.A157T|TRABD_uc003bjw.1_Missense_Mutation_p.A157T	p.A157T	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	6	555	+		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	157					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Missense_Mutation	SNP	ENST00000303434.4	37	c.469G>A	CCDS14086.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996603	0.93167	.	.	ENSG00000170638	ENST00000380909;ENST00000303434;ENST00000395827;ENST00000395829	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.972;1.0	P;D	0.91635	0.828;0.999	T	0.65602	-0.6128	10	0.59425	D	0.04	-39.222	18.8942	0.92417	0.0:0.0:1.0:0.0	.	111;157	Q9H4I3-2;Q9H4I3	.;TRABD_HUMAN	T	157	ENSP00000370295:A157T;ENSP00000305664:A157T;ENSP00000379171:A157T;ENSP00000379173:A157T	ENSP00000305664:A157T	A	+	1	0	TRABD	48977845	1.000000	0.71417	0.166000	0.22797	0.543000	0.35085	8.708000	0.91372	2.452000	0.82932	0.561000	0.74099	GCA		0.662	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1		NM_025204		11	37	0	0	0	0.008291	0	11	37		
BHLHE40	8553	broad.mit.edu	37	3	5022016	5022016	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:5022016G>A	ENST00000256495.3	+	3	784	c.181G>A	c.(181-183)Gag>Aag	p.E61K	BHLHE40-AS1_ENST00000420832.1_RNA|BHLHE40-AS1_ENST00000441386.2_RNA|BHLHE40-AS1_ENST00000434530.1_RNA	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	61	Essential for its interaction with ARNTL/BMAL1, E-box binding and repressor activity against the CLOCK-ARNTL/BMAL1 heterodimer.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CCGGCTCATCGAGAAAAAGAG	0.567											OREG0015367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bqf.2		NaN																	0				ovary(1)	1						c.(181-183)GAG>AAG		basic helix-loop-helix family, member e40							68.0	69.0	68.0					3																	5022016		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5022016G>A	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.181G>A	3.37:g.5022016G>A	ENSP00000256495:p.Glu61Lys		OREG0015367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	623	uc003bqe.1_5'Flank|uc010hce.1_5'Flank|BHLHE40_uc011asw.1_5'UTR	p.E61K	NM_003670	NP_003661	O14503	BHE40_HUMAN			3	488	+			61			Basic motif.		Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.181G>A	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373703	0.95923	.	.	ENSG00000134107	ENST00000256495	D	0.99730	-6.56	4.37	4.37	0.52481	Helix-loop-helix DNA-binding (5);	0.047467	0.85682	D	0.000000	D	0.99792	0.9912	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96760	0.9560	10	0.87932	D	0	.	16.9013	0.86114	0.0:0.0:1.0:0.0	.	61	O14503	BHE40_HUMAN	K	61	ENSP00000256495:E61K	ENSP00000256495:E61K	E	+	1	0	BHLHE40	4997016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.301000	0.96167	2.145000	0.66743	0.591000	0.81541	GAG		0.567	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2		NM_003670		38	7	0	0	0	0.00874	0	38	7		
SRGAP3	9901	broad.mit.edu	37	3	9055453	9055453	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9055453C>G	ENST00000383836.3	-	16	2314	c.1887G>C	c.(1885-1887)gtG>gtC	p.V629V	SRGAP3_ENST00000433332.3_5'Flank|SRGAP3_ENST00000360413.3_Silent_p.V605V|SRGAP3-AS1_ENST00000414633.1_RNA	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	629	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ATCTCATGACCACAATGACCA	0.552			T	RAF1	pilocytic astrocytoma																																	uc003brf.1		NaN		Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	0				central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(1885-1887)GTG>GTC		SLIT-ROBO Rho GTPase activating protein 3							149.0	136.0	141.0					3																	9055453		2203	4300	6503	SO:0001819	synonymous_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055453C>G	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1887G>C	3.37:g.9055453C>G						SRGAP3_uc003brg.1_Silent_p.V605V	p.V629V	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	16	2563	-			629			Rho-GAP.		Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	c.1887G>C	CCDS2572.1																																																																																				0.552	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3				6	111	0	0	0	0.004482	0	6	111		
CAMK1	8536	broad.mit.edu	37	3	9803376	9803376	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9803376G>A	ENST00000256460.3	-	6	672	c.495C>T	c.(493-495)ctC>ctT	p.L165L	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CCATCTTGGAGAGGCCAAAGT	0.602																																						uc003bst.2		NaN																	0				ovary(1)|skin(1)	2						c.(493-495)CTC>CTT		calcium/calmodulin-dependent protein kinase I							70.0	71.0	70.0					3																	9803376		2203	4300	6503	SO:0001819	synonymous_variant	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9803376G>A	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.495C>T	3.37:g.9803376G>A						OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA	p.L165L	NM_003656	NP_003647	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	6	673	-	Medulloblastoma(99;0.227)		165			Protein kinase.		Q3KPF6	Silent	SNP	ENST00000256460.3	37	c.495C>T	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	G	9.131	1.011435	0.19277	.	.	ENSG00000134072	ENST00000421120	T	0.71222	-0.55	4.58	2.58	0.30949	.	0.000000	0.64402	D	0.000001	T	0.77651	0.4162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80103	-0.1522	7	0.87932	D	0	-15.8154	11.7449	0.51815	0.0806:0.2002:0.7192:0.0	.	.	.	.	F	12	ENSP00000393238:L12F	ENSP00000393238:L12F	L	-	1	0	CAMK1	9778376	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.438000	0.21559	1.059000	0.40554	0.655000	0.94253	CTC		0.602	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1		NM_003656		40	86	0	0	0	0.00623	0	40	86		
IL17RC	84818	broad.mit.edu	37	3	9959040	9959040	+	Missense_Mutation	SNP	G	G	A	rs112532783		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9959040G>A	ENST00000295981.3	+	1	259	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.R14Q|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000416074.2_5'UTR|IL17RC_ENST00000383812.4_Missense_Mutation_p.R14Q|IL17RC_ENST00000455057.1_Missense_Mutation_p.R14Q|IL17RC_ENST00000413608.1_Missense_Mutation_p.R14Q	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	14					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACTGGGCCGAAGCCCAGTG	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16670	0.0		0.0	False		,,,				2504	0.0					uc003bua.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(40-42)CGA>CAA		interleukin 17 receptor C isoform 1 precursor		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	37.0	38.0	38.0		41,41,41,41,41,41	4.4	0.9	3	dbSNP_132	38	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	IL17RC	NM_001203263.1,NM_001203264.1,NM_001203265.1,NM_032732.5,NM_153460.3,NM_153461.3	43,43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	14/708,14/691,14/689,14/706,14/721,14/792	9959040	1,13005	2203	4300	6503	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9959040G>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.41G>A	3.37:g.9959040G>A	ENSP00000295981:p.Arg14Gln					CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_RNA|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Missense_Mutation_p.R14Q|IL17RC_uc003btz.2_Missense_Mutation_p.R14Q|IL17RC_uc011atp.1_5'UTR|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Missense_Mutation_p.R14Q|IL17RC_uc010hct.2_Missense_Mutation_p.R14Q|IL17RC_uc010hcu.2_Missense_Mutation_p.R14Q|IL17RC_uc010hcv.2_Missense_Mutation_p.R14Q|IL17RC_uc011atq.1_Missense_Mutation_p.R14Q|IL17RC_uc003buc.2_5'UTR	p.R14Q	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN			1	277	+			14					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.41G>A	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968023	0.34754	2.27E-4	0.0	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000455057;ENST00000413608	T;T;T;T;T;T	0.46451	1.87;0.88;1.81;1.85;0.87;1.86	5.33	4.44	0.53790	.	0.281924	0.25622	N	0.029407	T	0.48519	0.1504	L	0.42245	1.32	0.50313	D	0.999863	D;D;D;D;D;D;D;D	0.76494	0.998;0.996;0.996;0.998;0.998;0.998;0.996;0.999	P;P;P;P;P;P;P;P	0.55667	0.707;0.512;0.512;0.608;0.608;0.707;0.512;0.781	T	0.50659	-0.8802	10	0.87932	D	0	-4.8722	11.9896	0.53168	0.0:0.1745:0.8255:0.0	.	14;14;14;14;14;14;14;14	Q8NAC3-4;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;I17RC_HUMAN;.	Q	14	ENSP00000373323:R14Q;ENSP00000414609:R14Q;ENSP00000295981:R14Q;ENSP00000384969:R14Q;ENSP00000407894:R14Q;ENSP00000396064:R14Q	ENSP00000295981:R14Q	R	+	2	0	IL17RC	9934040	1.000000	0.71417	0.869000	0.34112	0.344000	0.29017	1.472000	0.35376	1.225000	0.43566	0.561000	0.74099	CGA		0.657	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2		NM_032732		12	70	0	0	0	0.00499	0	12	70		
CRELD1	78987	broad.mit.edu	37	3	9986069	9986069	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9986069G>A	ENST00000383811.3	+	10	1668	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	CRELD1_ENST00000452070.1_Missense_Mutation_p.E357K|CRELD1_ENST00000326434.5_Silent_p.Q421Q|CRELD1_ENST00000397170.3_Missense_Mutation_p.E357K|CRELD1_ENST00000489674.1_3'UTR	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	357					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CTTCTTCTCAGAGATGACAGA	0.547																																						uc003bug.2		NaN																	0				ovary(1)	1						c.(1069-1071)GAG>AAG		cysteine-rich with EGF-like domains 1 isoform 3							191.0	186.0	188.0					3																	9986069		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9986069G>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.1069G>A	3.37:g.9986069G>A	ENSP00000373322:p.Glu357Lys					CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.Q421Q|CRELD1_uc003buh.2_Missense_Mutation_p.E357K|CRELD1_uc003bui.2_Missense_Mutation_p.E357K|CRELD1_uc003buj.2_RNA	p.E357K	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN			11	1187	+			357			Extracellular (Potential).		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.1069G>A	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049893	0.75846	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070	T;T;T	0.60797	0.16;0.16;0.16	5.22	5.22	0.72569	.	.	.	.	.	T	0.46658	0.1404	.	.	.	0.80722	D	1	B	0.23937	0.094	B	0.19666	0.026	T	0.34700	-0.9818	7	.	.	.	0.4443	17.3489	0.87317	0.0:0.0:1.0:0.0	.	357	Q96HD1	CREL1_HUMAN	K	357	ENSP00000380355:E357K;ENSP00000373322:E357K;ENSP00000393643:E357K	.	E	+	1	0	CRELD1	9961069	1.000000	0.71417	0.947000	0.38551	0.806000	0.45545	9.466000	0.97665	2.434000	0.82447	0.655000	0.94253	GAG		0.547	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1		NM_015513		38	288	0	0	0	0.006999	0	38	288		
PRRT3	285368	broad.mit.edu	37	3	9988960	9988960	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9988960C>T	ENST00000412055.1	-	4	2026	c.1897G>A	c.(1897-1899)Gcc>Acc	p.A633T	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	633						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCCGGGCTGGCATCCCAGCCC	0.766																																						uc003bul.2		NaN																	0					0						c.(1897-1899)GCC>ACC		proline-rich transmembrane protein 3 precursor							3.0	4.0	4.0					3																	9988960		1258	2938	4196	SO:0001583	missense	285368					integral to membrane		g.chr3:9988960C>T	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1897G>A	3.37:g.9988960C>T	ENSP00000392511:p.Ala633Thr					CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA	p.A633T	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN			4	2027	-			633			Cytoplasmic (Potential).		Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.1897G>A	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563584	0.27915	.	.	ENSG00000163704	ENST00000412055	T	0.15256	2.44	4.3	1.22	0.21188	.	0.310256	0.24098	N	0.041563	T	0.06917	0.0176	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31475	-0.9942	9	.	.	.	-8.208	7.7346	0.28806	0.0:0.5696:0.3306:0.0998	.	633	Q5FWE3	PRRT3_HUMAN	T	633	ENSP00000392511:A633T	.	A	-	1	0	PRRT3	9963960	0.000000	0.05858	0.997000	0.53966	0.620000	0.37586	-0.471000	0.06631	0.427000	0.26145	0.313000	0.20887	GCC		0.766	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1		NM_207351		6	0	0	0	0	0.001984	0	6	0		
FANCD2	2177	broad.mit.edu	37	3	10070355	10070355	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:10070355G>C	ENST00000419585.1	+	2	175	c.14G>C	c.(13-15)aGa>aCa	p.R5T	FANCD2_ENST00000287647.3_Missense_Mutation_p.R5T|FANCD2_ENST00000431693.1_Missense_Mutation_p.R5T|FANCD2_ENST00000383807.1_Missense_Mutation_p.R5T|FANCD2_ENST00000383806.1_Missense_Mutation_p.R5T|CIDECP_ENST00000432401.1_RNA			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	5	Interaction with FANCE.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTTTCCAAAAGAAGACTGTCA	0.388			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NaN	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(13-15)AGA>ACA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							143.0	138.0	140.0					3																	10070355		2203	4300	6503	SO:0001583	missense	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10070355G>C	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.14G>C	3.37:g.10070355G>C	ENSP00000398754:p.Arg5Thr					CIDEC_uc003bto.2_5'Flank|FANCD2_uc003bux.1_Missense_Mutation_p.R5T|FANCD2_uc003buy.1_Missense_Mutation_p.R5T|CIDECP_uc003bus.2_5'Flank|CIDECP_uc003but.2_5'Flank|CIDECP_uc003buu.1_5'Flank|FANCD2_uc003buv.2_Missense_Mutation_p.R5T	p.R5T	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	2	92	+			5			Interaction with FANCE.		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.14G>C	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026395	0.75390	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585;ENST00000431693	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.21	5.21	0.72293	.	0.101552	0.64402	D	0.000003	T	0.70622	0.3245	M	0.72479	2.2	0.34296	D	0.683853	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.77557	0.974;0.974;0.99	T	0.80384	-0.1405	10	0.72032	D	0.01	.	14.2573	0.66060	0.0:0.0:1.0:0.0	.	5;5;5	Q9BXW9-2;Q9BXW9;Q9BXW9-4	.;FACD2_HUMAN;.	T	5	ENSP00000287647:R5T;ENSP00000373318:R5T;ENSP00000373317:R5T;ENSP00000398754:R5T;ENSP00000399354:R5T	ENSP00000287647:R5T	R	+	2	0	FANCD2	10045355	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.969000	0.56816	2.435000	0.82474	0.462000	0.41574	AGA		0.388	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1				7	105	0	0	0	0.001984	0	7	105		
FANCD2	2177	broad.mit.edu	37	3	10127604	10127604	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:10127604C>T	ENST00000419585.1	+	33	3494	c.3333C>T	c.(3331-3333)ctC>ctT	p.L1111L	FANCD2_ENST00000287647.3_Silent_p.L1111L|FANCD2_ENST00000383807.1_Silent_p.L1111L|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Silent_p.L1111L|FANCD2OS_ENST00000436517.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1111					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGGAACTACTCAGGTGAGTCA	0.428			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NaN	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(3331-3333)CTC>CTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							108.0	98.0	101.0					3																	10127604		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10127604C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3333C>T	3.37:g.10127604C>T						FANCD2_uc003bux.1_Silent_p.L1111L|FANCD2_uc003buy.1_Silent_p.L1111L|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	p.L1111L	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	33	3411	+			1111					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.3333C>T	CCDS33696.1																																																																																				0.428	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1				179	27	0	0	0	0.01441	0	179	27		
IQSEC1	9922	broad.mit.edu	37	3	12950806	12950806	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:12950806C>T	ENST00000273221.4	-	11	2803	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	863	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTGGACTTCCGCAATGGAC	0.537																																						uc003bxt.2		NaN																	0				ovary(1)	1						c.(2587-2589)GAA>AAA		IQ motif and Sec7 domain 1 isoform b							135.0	137.0	137.0					3																	12950806		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12950806C>T	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2587G>A	3.37:g.12950806C>T	ENSP00000273221:p.Glu863Lys					IQSEC1_uc003bxu.3_Missense_Mutation_p.E741K|IQSEC1_uc011auw.1_Missense_Mutation_p.E849K	p.E863K	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN			11	2596	-			863			PH.|Potential.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.2587G>A	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.140263|4.140263	0.77775|0.77775	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247|ENST00000450726	T;T|.	0.50813|.	0.73;0.73|.	4.86|4.86	3.96|3.96	0.45880|0.45880	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69735|0.69735	0.3144|0.3144	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|.	0.65815|.	0.995;0.989;0.977|.	D;P;P|.	0.65684|.	0.937;0.819;0.896|.	T|T	0.68949|0.68949	-0.5274|-0.5274	9|4	0.66056|.	D|.	0.02|.	.|.	14.4431|14.4431	0.67330|0.67330	0.1487:0.8513:0.0:0.0|0.1487:0.8513:0.0:0.0	.|.	849;849;863|.	E9PG60;C9JMG9;Q6DN90|.	.;.;IQEC1_HUMAN|.	K|E	863;849;849|863	ENSP00000273221:E863K;ENSP00000402299:E849K|.	ENSP00000273221:E863K|.	E|G	-|-	1|2	0|0	IQSEC1|IQSEC1	12925806|12925806	1.000000|1.000000	0.71417|0.71417	0.762000|0.762000	0.31397|0.31397	0.339000|0.339000	0.28857|0.28857	7.818000|7.818000	0.86416|0.86416	1.124000|1.124000	0.41980|0.41980	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.537	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2		NM_014869		68	174	0	0	0	0.01441	0	68	174		
FGD5	152273	broad.mit.edu	37	3	14949214	14949214	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:14949214G>T	ENST00000285046.5	+	10	3442	c.3332G>T	c.(3331-3333)gGa>gTa	p.G1111V	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.G870V	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1111					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTCCAGCCAGGAAGGGTGAGT	0.642																																						uc003bzc.2		NaN																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(3331-3333)GGA>GTA		FYVE, RhoGEF and PH domain containing 5							40.0	46.0	44.0					3																	14949214		2010	4148	6158	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14949214G>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3332G>T	3.37:g.14949214G>T	ENSP00000285046:p.Gly1111Val					FGD5_uc011avk.1_Missense_Mutation_p.G1111V|FGD5_uc003bzd.2_Missense_Mutation_p.G189V	p.G1111V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			10	3442	+			1111					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3332G>T	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062597	0.76187	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.40476	1.03;1.03	5.24	5.24	0.73138	Pleckstrin homology-type (1);	0.000000	0.53938	D	0.000041	T	0.59689	0.2212	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62134	-0.6918	10	0.87932	D	0	-22.8338	14.3421	0.66633	0.0:0.0:1.0:0.0	.	870;1111	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	V	1111;870	ENSP00000285046:G1111V;ENSP00000445949:G870V	ENSP00000285046:G1111V	G	+	2	0	FGD5	14924218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.672000	0.74477	2.443000	0.82685	0.591000	0.81541	GGA		0.642	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1		NM_152536		4	22	1	0	1.12685e-05	0.004482	1.1518e-05	4	22		
STAC	6769	broad.mit.edu	37	3	36570456	36570456	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:36570456G>C	ENST00000273183.3	+	10	1389	c.1089G>C	c.(1087-1089)caG>caC	p.Q363H	STAC_ENST00000457375.2_Missense_Mutation_p.Q302H	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	363					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AACAGGGGCAGATAACACTGA	0.353																																						uc003cgh.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(1087-1089)CAG>CAC		SH3 and cysteine rich domain							80.0	78.0	79.0					3																	36570456		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36570456G>C	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.1089G>C	3.37:g.36570456G>C	ENSP00000273183:p.Gln363His					STAC_uc011aya.1_Missense_Mutation_p.Q302H	p.Q363H	NM_003149	NP_003140	Q99469	STAC_HUMAN			10	1128	+			363					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.1089G>C	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466252	0.63625	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687	T;T	0.76448	-1.02;0.98	5.55	4.68	0.58851	Src homology-3 domain (1);Variant SH3 (1);	0.051930	0.85682	D	0.000000	D	0.85835	0.5789	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.989	D	0.85360	0.1107	10	0.38643	T	0.18	.	14.5653	0.68171	0.0713:0.0:0.9287:0.0	.	302;363	E9PEA7;Q99469	.;STAC_HUMAN	H	363;302;295	ENSP00000273183:Q363H;ENSP00000393713:Q302H	ENSP00000273183:Q363H	Q	+	3	2	STAC	36545460	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.498000	0.53302	1.489000	0.48450	-0.150000	0.13652	CAG		0.353	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2		NM_003149		24	24	0	0	0	0.003954	0	24	24		
EPM2AIP1	9852	broad.mit.edu	37	3	37033664	37033664	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:37033664G>A	ENST00000322716.5	-	1	1131	c.905C>T	c.(904-906)tCc>tTc	p.S302F	MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000536378.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	302					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TATCCATTCGGATATGGTATT	0.393																																						uc003cgk.2		NaN																	0					0						c.(904-906)TCC>TTC		EPM2A interacting protein 1							74.0	71.0	72.0					3																	37033664		1880	4100	5980	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37033664G>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.905C>T	3.37:g.37033664G>A	ENSP00000406027:p.Ser302Phe					MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.S302F	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN			1	1132	-			302					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.905C>T	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328767	0.41197	.	.	ENSG00000178567	ENST00000322716	T	0.13901	2.55	4.8	4.8	0.61643	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	D	0.59767	0.986	P	0.53861	0.736	T	0.13335	-1.0513	9	0.56958	D	0.05	-2.9449	8.8844	0.35394	0.0992:0.0:0.9008:0.0	.	302	Q7L775	EPMIP_HUMAN	F	302	ENSP00000406027:S302F	ENSP00000406027:S302F	S	-	2	0	EPM2AIP1	37008668	0.412000	0.25392	0.223000	0.23860	0.991000	0.79684	2.083000	0.41615	2.486000	0.83907	0.557000	0.71058	TCC		0.393	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1		NM_014805		20	82	0	0	0	0.008871	0	20	82		
XYLB	9942	broad.mit.edu	37	3	38415956	38415956	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:38415956C>T	ENST00000207870.3	+	11	941	c.851C>T	c.(850-852)tCg>tTg	p.S284L	XYLB_ENST00000542835.1_Missense_Mutation_p.S147L	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	284					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TTCTCAGCGTCGCTGGCAGGC	0.587																																						uc003cic.2		NaN																	0				ovary(1)	1						c.(850-852)TCG>TTG		xylulokinase							126.0	112.0	117.0					3																	38415956		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38415956C>T	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.851C>T	3.37:g.38415956C>T	ENSP00000207870:p.Ser284Leu					XYLB_uc011ayp.1_Missense_Mutation_p.S147L|XYLB_uc003cid.1_Missense_Mutation_p.S206L	p.S284L	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	11	960	+			284					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.851C>T	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906612	0.92107	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.50277	0.75;0.75	5.63	5.63	0.86233	Carbohydrate kinase, FGGY, N-terminal (1);	0.118924	0.64402	D	0.000014	T	0.68007	0.2954	M	0.80746	2.51	0.54753	D	0.999983	D;D	0.58620	0.983;0.978	P;P	0.58820	0.846;0.745	T	0.71464	-0.4585	10	0.72032	D	0.01	.	17.5362	0.87832	0.0:1.0:0.0:0.0	.	147;284	B4DDT2;O75191	.;XYLB_HUMAN	L	284;147	ENSP00000207870:S284L;ENSP00000443659:S147L	ENSP00000207870:S284L	S	+	2	0	XYLB	38390960	1.000000	0.71417	0.675000	0.29917	0.964000	0.63967	6.444000	0.73452	2.815000	0.96918	0.561000	0.74099	TCG		0.587	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2		NM_005108		23	16	0	0	0	0.003271	0	23	16		
CX3CR1	1524	broad.mit.edu	37	3	39307491	39307491	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:39307491C>G	ENST00000541347.1	-	2	749	c.510G>C	c.(508-510)caG>caC	p.Q170H	CX3CR1_ENST00000358309.3_Missense_Mutation_p.Q202H|CX3CR1_ENST00000542107.1_Missense_Mutation_p.Q170H|CX3CR1_ENST00000399220.2_Missense_Mutation_p.Q170H	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	170					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CATTTTCTTTCTGCTTTGTGA	0.547																																						uc003cjl.2		NaN																	0				lung(3)	3						c.(508-510)CAG>CAC		chemokine (C-X3-C motif) receptor 1							94.0	96.0	95.0					3																	39307491		1978	4154	6132	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307491C>G	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.510G>C	3.37:g.39307491C>G	ENSP00000439140:p.Gln170His						p.Q170H	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	602	-			170			Extracellular (Potential).		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.510G>C	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375863	0.24857	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.76	-10.1	0.00402	GPCR, rhodopsin-like superfamily (1);	1.450200	0.04934	N	0.457345	T	0.16214	0.0390	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.22661	-1.0210	10	0.49607	T	0.09	.	4.2392	0.10640	0.2047:0.4768:0.188:0.1306	.	170	P49238	CX3C1_HUMAN	H	170;178;202;170;170	ENSP00000382166:Q170H;ENSP00000351059:Q202H;ENSP00000439140:Q170H;ENSP00000444928:Q170H	ENSP00000351059:Q202H	Q	-	3	2	CX3CR1	39282495	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-1.403000	0.02497	-1.796000	0.01253	-0.345000	0.07892	CAG		0.547	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1		NM_001337		41	91	0	0	0	0.00874	0	41	91		
ENTPD3	956	broad.mit.edu	37	3	40456182	40456182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:40456182G>A	ENST00000301825.3	+	6	566	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.E150K|ENTPD3_ENST00000456402.1_Missense_Mutation_p.E150K|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	150					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GTTGCAAAATGAAACAGCAGC	0.423																																						uc003ckd.3		NaN																	0				ovary(1)	1						c.(448-450)GAA>AAA		ectonucleoside triphosphate diphosphohydrolase							117.0	108.0	111.0					3																	40456182		2203	4300	6503	SO:0001583	missense	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40456182G>A	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.448G>A	3.37:g.40456182G>A	ENSP00000301825:p.Glu150Lys					ENTPD3_uc010hhy.2_Missense_Mutation_p.E150K|uc003cke.3_Intron	p.E150K	NM_001248	NP_001239	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	6	540	+			150			Extracellular (Potential).		B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	c.448G>A	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220149	0.58560	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.10960	2.82;2.82;2.82	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.62154	1.92	0.80722	D	1	B	0.30482	0.281	B	0.41466	0.358	T	0.02059	-1.1221	10	0.24483	T	0.36	-21.6319	17.5109	0.87760	0.0:0.0:1.0:0.0	.	150	O75355	ENTP3_HUMAN	K	150	ENSP00000301825:E150K;ENSP00000401565:E150K;ENSP00000404671:E150K	ENSP00000301825:E150K	E	+	1	0	ENTPD3	40431186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.968000	0.70413	2.826000	0.97356	0.655000	0.94253	GAA		0.423	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2		NM_001248		55	53	0	0	0	0.01441	0	55	53		
CTNNB1	1499	broad.mit.edu	37	3	41266101	41266101	+	Missense_Mutation	SNP	C	C	T	rs121913416|rs121913400		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:41266101C>T	ENST00000349496.5	+	3	378	c.98C>T	c.(97-99)tCt>tTt	p.S33F	CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> F (in PTR, MDB and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> L (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:9065402}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TACCTGGACTCTGGAATCCAT	0.488	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	468	Substitution - Missense(331)|Deletion - In frame(111)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	p.S33C(131)|p.S33F(79)|p.A5_A80del(63)|p.S33Y(52)|p.S33P(37)|p.S33A(14)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.S33L(4)|p.W25_I140del(4)|p.S33N(3)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.Y30_S33del(2)|p.V22_S33del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.S33T(1)|p.S33S(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.A5_I35del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.S33_G34del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.S33_G34insGTS(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.S33_G34insS(1)|p.Y30_T40del(1)|p.S33_G34insGI(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.V22_Y64del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1)	liver(165)|central_nervous_system(82)|large_intestine(40)|endometrium(37)|stomach(32)|skin(21)|ovary(20)|pituitary(19)|pancreas(12)|lung(7)|biliary_tract(6)|soft_tissue(4)|bone(4)|breast(3)|prostate(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|parathyroid(2)|small_intestine(2)|thyroid(1)|NS(1)|urinary_tract(1)|adrenal_gland(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(97-99)TCT>TTT		beta-catenin	Lithium(DB01356)						92.0	77.0	82.0					3																	41266101		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266101C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.98C>T	3.37:g.41266101C>T	ENSP00000344456:p.Ser33Phe					CTNNB1_uc003ckp.2_Missense_Mutation_p.S33F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S33F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33F|CTNNB1_uc011azf.1_Missense_Mutation_p.S26F|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	p.S33F	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	254	+			33		S -> F (in PTR, MDB and hepatocellular carcinoma).|Missing (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).|S -> L (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.98C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498846	0.85069	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74188	-0.3746	10	0.87932	D	0	-10.7796	19.9596	0.97236	0.0:1.0:0.0:0.0	.	33	P35222	CTNB1_HUMAN	F	26;33;33;33;33;26;33;33;33	ENSP00000400508:S26F;ENSP00000385604:S33F;ENSP00000412219:S33F;ENSP00000379486:S33F;ENSP00000344456:S33F;ENSP00000411226:S26F;ENSP00000379488:S33F;ENSP00000409302:S33F;ENSP00000401599:S33F	ENSP00000344456:S33F	S	+	2	0	CTNNB1	41241105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCT		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2		NM_001098210		7	31	0	0	0	0.001984	0	7	31		
ZNF197	10168	broad.mit.edu	37	3	44684773	44684773	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:44684773G>T	ENST00000396058.1	+	5	2318	c.2151G>T	c.(2149-2151)atG>atT	p.M717I	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.M717I|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	717					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CCTTTATTATGAGCAAAAGTT	0.423																																						uc003cnm.2		NaN																	0				ovary(3)|skin(1)	4						c.(2149-2151)ATG>ATT		zinc finger protein 197 isoform 1							91.0	101.0	98.0					3																	44684773		2202	4300	6502	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44684773G>T	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.2151G>T	3.37:g.44684773G>T	ENSP00000379370:p.Met717Ile					ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	p.M717I	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	6	2357	+			717			C2H2-type 13.		B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.2151G>T	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	-	4.501	0.092900	0.08632	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.07114	3.22;3.22	4.39	2.55	0.30701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42172	U	0.000757	T	0.03095	0.0091	N	0.04787	-0.16	0.09310	N	1	B	0.28233	0.204	B	0.18561	0.022	T	0.44112	-0.9349	10	0.22109	T	0.4	.	6.2357	0.20762	0.1828:0.1572:0.66:0.0	.	717	O14709	ZN197_HUMAN	I	717	ENSP00000345809:M717I;ENSP00000379370:M717I	ENSP00000345809:M717I	M	+	3	0	ZNF197	44659777	0.008000	0.16893	1.000000	0.80357	0.993000	0.82548	0.698000	0.25571	1.161000	0.42604	0.557000	0.71058	ATG		0.423	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4		NM_006991		65	88	1	0	5.73332e-34	0.01441	6.08376e-34	65	88		
ZNF35	7584	broad.mit.edu	37	3	44700379	44700379	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:44700379G>T	ENST00000396056.2	+	4	759	c.524G>T	c.(523-525)aGa>aTa	p.R175I	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000453164.1_3'UTR|ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Missense_Mutation_p.R15I	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	175	Globular domain.				cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AAAGATTTCAGACAAGTGATA	0.383																																						uc003cnq.2		NaN																	0					0						c.(523-525)AGA>ATA		zinc finger protein 35							84.0	88.0	87.0					3																	44700379		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700379G>T	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.524G>T	3.37:g.44700379G>T	ENSP00000379368:p.Arg175Ile					ZNF35_uc003cnr.2_Missense_Mutation_p.R15I	p.R175I	NM_003420	NP_003411	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	745	+		Ovarian(412;0.0228)	175			Globular domain.		B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.524G>T	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631442	0.28978	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.08720	3.06;3.1	4.06	3.19	0.36642	.	0.553031	0.16634	N	0.205929	T	0.05181	0.0138	N	0.19112	0.55	0.32981	D	0.523609	P	0.34837	0.472	B	0.31614	0.133	T	0.16689	-1.0394	10	0.66056	D	0.02	-5.5328	6.4538	0.21918	0.212:0.0:0.788:0.0	.	175	P13682	ZNF35_HUMAN	I	175;15	ENSP00000379368:R175I;ENSP00000443714:R15I	ENSP00000379368:R175I	R	+	2	0	ZNF35	44675383	0.936000	0.31750	0.629000	0.29254	0.975000	0.68041	2.164000	0.42387	1.298000	0.44778	0.650000	0.86243	AGA		0.383	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4		NM_003420		109	38	1	0	3.12436e-70	0.01441	3.32673e-70	109	38		
CLEC3B	7123	broad.mit.edu	37	3	45077285	45077285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:45077285G>A	ENST00000296130.4	+	3	658	c.478G>A	c.(478-480)Gag>Aag	p.E160K	RNU5B-3P_ENST00000516601.1_RNA|CLEC3B_ENST00000428034.1_Missense_Mutation_p.E118K|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	160	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	CTGGGAGACTGAGATCACCGC	0.662																																					GBM(139;1487 3263 30871)	uc003cok.3		NaN																	0					0						c.(478-480)GAG>AAG		C-type lectin domain family 3, member B	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						43.0	44.0	44.0					3																	45077285		2203	4300	6503	SO:0001583	missense	7123				skeletal system development	extracellular space	protein binding|sugar binding	g.chr3:45077285G>A		CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"""C-type lectin domain containing"""	11891	protein-coding gene	gene with protein product		187520	"""tetranectin (plasminogen binding protein)"""	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.478G>A	3.37:g.45077285G>A	ENSP00000296130:p.Glu160Lys					CLEC3B_uc003col.2_Missense_Mutation_p.E118K	p.E160K	NM_003278	NP_003269	P05452	TETN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	3	574	+			160			C-type lectin.		Q6FGX6	Missense_Mutation	SNP	ENST00000296130.4	37	c.478G>A	CCDS2726.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811778	0.90707	.	.	ENSG00000163815	ENST00000296130;ENST00000428034	T;T	0.29142	1.58;1.58	4.38	4.38	0.52667	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.278845	0.35838	N	0.002945	T	0.45458	0.1343	L	0.56199	1.76	0.50467	D	0.999877	D	0.59357	0.985	D	0.65323	0.934	T	0.30937	-0.9961	10	0.07813	T	0.8	-34.7309	17.2767	0.87118	0.0:0.0:1.0:0.0	.	160	P05452	TETN_HUMAN	K	160;118	ENSP00000296130:E160K;ENSP00000396013:E118K	ENSP00000296130:E160K	E	+	1	0	CLEC3B	45052289	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	4.616000	0.61197	2.148000	0.66965	0.561000	0.74099	GAG		0.662	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256745.1		NM_003278		23	10	0	0	0	0.005443	0	23	10		
KLHL18	23276	broad.mit.edu	37	3	47378043	47378043	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:47378043T>C	ENST00000232766.5	+	7	937	c.917T>C	c.(916-918)gTg>gCg	p.V306A	KLHL18_ENST00000455924.2_Missense_Mutation_p.V194A	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	306										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CTGAATGTGGTGGAAGTGTTC	0.478																																						uc003crd.2		NaN																	0					0						c.(916-918)GTG>GCG		kelch-like 18							48.0	45.0	46.0					3																	47378043		2203	4300	6503	SO:0001583	missense	23276							g.chr3:47378043T>C	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.917T>C	3.37:g.47378043T>C	ENSP00000232766:p.Val306Ala					KLHL18_uc003crc.2_Missense_Mutation_p.V306A|KLHL18_uc011bav.1_Missense_Mutation_p.V194A|KLHL18_uc010hjq.1_Missense_Mutation_p.V162A	p.V306A	NM_025010	NP_079286	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	7	1043	+		Acute lymphoblastic leukemia(5;0.164)	306			Kelch 1.		A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	c.917T>C	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.776690	0.90195	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	D;D	0.86030	-2.06;-2.06	5.43	5.43	0.79202	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.91171	0.7219	M	0.68728	2.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.91935	0.5558	10	0.66056	D	0.02	.	14.6631	0.68888	0.0:0.0:0.0:1.0	.	162;306;241	Q647K1;O94889;O94889-2	.;KLH18_HUMAN;.	A	306;194	ENSP00000232766:V306A;ENSP00000405585:V194A	ENSP00000232766:V306A	V	+	2	0	KLHL18	47353047	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.255000	0.72466	2.069000	0.61940	0.459000	0.35465	GTG		0.478	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1		NM_025010		30	14	0	0	0	0.008361	0	30	14		
SMARCC1	6599	broad.mit.edu	37	3	47676775	47676775	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:47676775C>T	ENST00000254480.5	-	24	2670	c.2551G>A	c.(2551-2553)Gat>Aat	p.D851N	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	851	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTCCCAGTATCACTTTCTCTT	0.433																																						uc003crq.2		NaN																	0				skin(2)|lung(1)	3						c.(2551-2553)GAT>AAT		SWI/SNF-related matrix-associated							165.0	154.0	158.0					3																	47676775		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47676775C>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2551G>A	3.37:g.47676775C>T	ENSP00000254480:p.Asp851Asn					SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.D742N	p.D851N	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	24	2669	-			851			Glu-rich.		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.2551G>A	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696631	0.48202	.	.	ENSG00000173473	ENST00000254480	T	0.43688	0.94	5.63	4.76	0.60689	.	0.437819	0.27495	N	0.019112	T	0.31606	0.0802	L	0.29908	0.895	0.27206	N	0.960039	B	0.14012	0.009	B	0.13407	0.009	T	0.15037	-1.0451	10	0.30854	T	0.27	-11.8747	13.0301	0.58837	0.0:0.9222:0.0:0.0778	.	851	Q92922	SMRC1_HUMAN	N	851	ENSP00000254480:D851N	ENSP00000254480:D851N	D	-	1	0	SMARCC1	47651779	0.831000	0.29352	0.257000	0.24404	0.944000	0.59088	2.485000	0.45250	1.386000	0.46466	0.655000	0.94253	GAT		0.433	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1				39	20	0	0	0	0.004289	0	39	20		
ZNF589	51385	broad.mit.edu	37	3	48309504	48309504	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48309504C>T	ENST00000354698.3	+	4	395	c.323C>T	c.(322-324)cCa>cTa	p.P108L	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Missense_Mutation_p.P107L|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	108	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATCCTATTCCAGGTTTCCAT	0.507																																					Colon(9;319 328 25374 27611 50948)	uc003csl.3		NaN																	0				ovary(1)	1						c.(322-324)CCA>CTA		zinc finger protein 589							69.0	71.0	70.0					3																	48309504		1992	4184	6176	SO:0001583	missense	51385				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:48309504C>T	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.323C>T	3.37:g.48309504C>T	ENSP00000346729:p.Pro108Leu					ZNF589_uc010hjt.1_Missense_Mutation_p.P105L|ZNF589_uc003csn.2_RNA|ZNF589_uc011bbg.1_Missense_Mutation_p.P107L|ZNF589_uc003csm.2_Intron	p.P108L	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	389	+			108			KRAB.		Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	c.323C>T	CCDS43085.1	.	.	.	.	.	.	.	.	.	.	C	8.459	0.854871	0.17106	.	.	ENSG00000164048	ENST00000354698;ENST00000440261;ENST00000296437	T;T	0.06687	3.27;4.85	1.17	1.17	0.20885	Krueppel-associated box (1);	.	.	.	.	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B;B;B	0.30068	0.006;0.267;0.174	B;B;B	0.24394	0.003;0.053;0.024	T	0.45366	-0.9266	9	0.15952	T	0.53	.	5.7333	0.18053	0.0:1.0:0.0:0.0	.	107;105;108	B4DQF9;Q86UQ0-2;Q86UQ0	.;.;ZN589_HUMAN	L	108;107;105	ENSP00000346729:P108L;ENSP00000408719:P107L	ENSP00000296437:P105L	P	+	2	0	ZNF589	48284508	0.030000	0.19436	0.027000	0.17364	0.512000	0.34134	0.649000	0.24843	0.952000	0.37798	0.467000	0.42956	CCA		0.507	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1		NM_016089		17	60	0	0	0	0.004007	0	17	60		
PLXNB1	5364	broad.mit.edu	37	3	48447188	48447188	+	Silent	SNP	G	G	A	rs143335184		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48447188G>A	ENST00000358536.4	-	37	6515	c.6246C>T	c.(6244-6246)ctC>ctT	p.L2082L	PLXNB1_ENST00000358459.4_Silent_p.L1899L|PLXNB1_ENST00000448774.2_Silent_p.L693L|PLXNB1_ENST00000456774.1_Silent_p.L1899L|PLXNB1_ENST00000296440.6_Silent_p.L2082L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2082					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCGCGCCCCGAGGTCTCCGG	0.617																																						uc003csw.2		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(6244-6246)CTC>CTT		plexin B1 precursor		G	,	0,4406		0,0,2203	57.0	55.0	55.0		6246,6246	-10.6	0.1	3	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PLXNB1	NM_001130082.1,NM_002673.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	2082/2136,2082/2136	48447188	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48447188G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.6246C>T	3.37:g.48447188G>A						PLXNB1_uc003cst.2_Silent_p.L532L|PLXNB1_uc003csu.2_Silent_p.L1899L|PLXNB1_uc003csx.2_Silent_p.L2082L	p.L2082L	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	37	6516	-			2082			Cytoplasmic (Potential).		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	c.6246C>T	CCDS2765.1																																																																																				0.617	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1		NM_002673		7	17	0	0	0	0.00308	0	7	17		
CCDC51	79714	broad.mit.edu	37	3	48474369	48474369	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48474369C>T	ENST00000395694.2	-	4	770	c.685G>A	c.(685-687)Gag>Aag	p.E229K	PLXNB1_ENST00000448774.2_5'Flank|CCDC51_ENST00000412398.2_Missense_Mutation_p.E120K|CCDC51_ENST00000447018.1_Missense_Mutation_p.E120K|PLXNB1_ENST00000296440.6_5'Flank|CCDC51_ENST00000395696.1_Missense_Mutation_p.E229K|CCDC51_ENST00000442740.1_Missense_Mutation_p.E120K	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	229						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTTCAGCTCCTGTAGTCGC	0.597																																						uc003csz.2		NaN																	0					0						c.(685-687)GAG>AAG		coiled-coil domain containing 51							74.0	78.0	77.0					3																	48474369		1949	4151	6100	SO:0001583	missense	79714					integral to membrane		g.chr3:48474369C>T	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.685G>A	3.37:g.48474369C>T	ENSP00000379047:p.Glu229Lys					PLXNB1_uc003csx.2_5'Flank|CCDC51_uc003cta.2_Missense_Mutation_p.E120K|CCDC51_uc003ctb.2_Missense_Mutation_p.E120K|CCDC51_uc003ctc.2_Missense_Mutation_p.E229K|CCDC51_uc003ctd.2_Missense_Mutation_p.E120K	p.E229K	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	806	-			229					Q9HA01	Missense_Mutation	SNP	ENST00000395694.2	37	c.685G>A	CCDS2766.2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737282	0.89482	.	.	ENSG00000164051	ENST00000447018;ENST00000395694;ENST00000412398;ENST00000395696;ENST00000442740	T;T;T;T;T	0.53423	0.62;0.65;0.62;0.65;0.62	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71384	-0.4609	10	0.72032	D	0.01	-17.8307	18.9372	0.92590	0.0:1.0:0.0:0.0	.	229	Q96ER9	CCD51_HUMAN	K	120;229;120;229;120	ENSP00000412300:E120K;ENSP00000379047:E229K;ENSP00000401194:E120K;ENSP00000379049:E229K;ENSP00000392898:E120K	ENSP00000379047:E229K	E	-	1	0	CCDC51	48449373	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.449000	0.80643	2.706000	0.92434	0.655000	0.94253	GAG		0.597	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2		NM_024661		26	89	0	0	0	0.00333	0	26	89		
ATRIP	84126	broad.mit.edu	37	3	48506933	48506933	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48506933C>G	ENST00000320211.3	+	13	2469	c.2356C>G	c.(2356-2358)Ccc>Gcc	p.P786A	SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000444177.1_5'Flank|TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000296443.9_5'UTR|ATRIP_ENST00000412052.1_Missense_Mutation_p.P693A|TREX1_ENST00000456089.1_5'Flank|ATRIP_ENST00000346691.4_Missense_Mutation_p.P759A|ATRIP_ENST00000357105.6_Missense_Mutation_p.P659A|TREX1_ENST00000436480.2_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	786					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTGGAAGACCCCGAGGTGGA	0.587								Other conserved DNA damage response genes			OREG0015557	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ctf.1		NaN																	0				ovary(1)	1						c.(2356-2358)CCC>GCC	Other_conserved_DNA_damage_response_genes	ATR interacting protein isoform 1							98.0	84.0	89.0					3																	48506933		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48506933C>G	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2356C>G	3.37:g.48506933C>G	ENSP00000323099:p.Pro786Ala		OREG0015557	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955	ATRIP_uc011bbj.1_Missense_Mutation_p.P659A|ATRIP_uc003ctg.1_Missense_Mutation_p.P759A|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'UTR|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank	p.P786A	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	13	2388	+			786					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.2356C>G	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	C	9.192	1.026367	0.19512	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.40756	1.6;1.62;1.02;1.6	5.25	0.624	0.17659	.	0.943657	0.08999	N	0.863282	T	0.31451	0.0797	L	0.54323	1.7	0.23381	N	0.997798	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.30736	-0.9968	10	0.25751	T	0.34	0.2978	1.5332	0.02539	0.2239:0.3571:0.2595:0.1596	.	759;786	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	A	786;759;659;693	ENSP00000323099:P786A;ENSP00000302338:P759A;ENSP00000349620:P659A;ENSP00000400930:P693A	ENSP00000323099:P786A	P	+	1	0	ATRIP	48481937	0.001000	0.12720	0.025000	0.17156	0.419000	0.31324	-0.061000	0.11693	-0.112000	0.11979	-0.136000	0.14681	CCC		0.587	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2		NM_130384		13	27	0	0	0	0.001855	0	13	27		
COL7A1	1294	broad.mit.edu	37	3	48602351	48602351	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48602351G>A	ENST00000328333.8	-	117	8790	c.8683C>T	c.(8683-8685)Cgg>Tgg	p.R2895W	COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Missense_Mutation_p.R2863W|UCN2_ENST00000273610.3_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2895	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.|Nonhelical region (NC2).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCACAGCCCGATGGTACCAG	0.622																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(8683-8685)CGG>TGG		alpha 1 type VII collagen precursor							81.0	79.0	80.0					3																	48602351		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48602351G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8683C>T	3.37:g.48602351G>A	ENSP00000332371:p.Arg2895Trp					UCN2_uc003cty.1_5'Flank	p.R2895W	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	117	8684	-			2895			Nonhelical region (NC2).|BPTI/Kunitz inhibitor.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.8683C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	4.973	0.180795	0.09443	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.58060	0.36;0.36	4.11	3.24	0.37175	Proteinase inhibitor I2, Kunitz metazoa (4);	0.411976	0.17545	N	0.170367	T	0.43590	0.1254	L	0.55213	1.73	0.35003	D	0.756137	B	0.29671	0.254	B	0.24006	0.05	T	0.55095	-0.8194	10	0.49607	T	0.09	.	7.9196	0.29837	0.1111:0.0:0.8889:0.0	.	2895	Q02388	CO7A1_HUMAN	W	2895;2863	ENSP00000332371:R2895W;ENSP00000412569:R2863W	ENSP00000332371:R2895W	R	-	1	2	COL7A1	48577355	0.995000	0.38212	0.965000	0.40720	0.151000	0.21798	3.624000	0.54231	1.332000	0.45431	-0.373000	0.07131	CGG		0.622	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		13	69	0	0	0	0.004007	0	13	69		
COL7A1	1294	broad.mit.edu	37	3	48626328	48626328	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48626328G>C	ENST00000328333.8	-	18	2522	c.2415C>G	c.(2413-2415)taC>taG	p.Y805*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.Y805*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	805	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGCCAGTCTGTAAGCTGTGG	0.617																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(2413-2415)TAC>TAG		alpha 1 type VII collagen precursor							62.0	60.0	61.0					3																	48626328		2203	4300	6503	SO:0001587	stop_gained	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48626328G>C	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2415C>G	3.37:g.48626328G>C	ENSP00000332371:p.Tyr805*						p.Y805*	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	18	2416	-			805			Nonhelical region (NC1).|Fibronectin type-III 7.		Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	37	c.2415C>G	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	39	7.891340	0.98545	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.08	4.19	0.49359	.	0.000000	0.41500	D	0.000879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9277	0.35650	0.1058:0.0:0.8942:0.0	.	.	.	.	X	805	.	ENSP00000332371:Y805X	Y	-	3	2	COL7A1	48601332	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	2.486000	0.45259	1.252000	0.44001	0.462000	0.41574	TAC		0.617	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		9	42	0	0	0	0.008291	0	9	42		
SLC26A6	65010	broad.mit.edu	37	3	48664437	48664437	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48664437C>G	ENST00000395550.2	-	18	1992	c.1945G>C	c.(1945-1947)Gac>Cac	p.D649H	SLC26A6_ENST00000455886.2_Missense_Mutation_p.D613H|SLC26A6_ENST00000358747.6_Missense_Mutation_p.D628H|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D541H|SLC26A6_ENST00000383733.3_Missense_Mutation_p.D630H|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D648H			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	649	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCCTTGGAGTCTTCTTGACCA	0.592																																					NSCLC(13;369 479 28271 30152 44026)	uc003cuf.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(12103-12105)GAC>CAC		cadherin EGF LAG seven-pass G-type receptor 3							114.0	121.0	119.0					3																	48664437		2014	4181	6195	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48664437C>G	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1945G>C	3.37:g.48664437C>G	ENSP00000378920:p.Asp649His					SLC26A6_uc003cug.2_Missense_Mutation_p.D628H|SLC26A6_uc003cuh.2_Missense_Mutation_p.D649H|SLC26A6_uc010hke.2_Missense_Mutation_p.D481H|SLC26A6_uc003cuk.2_Missense_Mutation_p.D541H|SLC26A6_uc003cui.2_Missense_Mutation_p.D648H|SLC26A6_uc003cuj.2_Missense_Mutation_p.D630H|SLC26A6_uc011bbp.1_Missense_Mutation_p.D613H	p.D4035H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	53	12103	-			Error:Variant_position_missing_in_Q9NYQ7_after_alignment					B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.12103G>C	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548805	0.65311	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	D;D;D;D;D;D	0.93133	-3.02;-3.01;-3.17;-3.0;-3.01;-3.13	4.19	3.31	0.37934	Sulphate transporter/antisigma-factor antagonist STAS (3);	.	.	.	.	D	0.91825	0.7413	L	0.27053	0.805	0.19945	N	0.999946	D;P;P;B;B;B;B	0.58268	0.982;0.56;0.94;0.049;0.277;0.001;0.002	D;B;P;B;B;B;B	0.63033	0.91;0.359;0.77;0.064;0.421;0.013;0.005	T	0.82808	-0.0274	9	0.45353	T	0.12	.	5.0596	0.14550	0.1676:0.6577:0.0:0.1747	.	613;643;541;630;648;649;4035	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	H	648;649;630;541;643;628;613	ENSP00000404684:D648H;ENSP00000378920:D649H;ENSP00000373239:D630H;ENSP00000337648:D541H;ENSP00000351597:D628H;ENSP00000401066:D613H	ENSP00000337648:D541H	D	-	1	0	SLC26A6	48639441	0.000000	0.05858	0.627000	0.29227	0.735000	0.41995	0.962000	0.29280	1.118000	0.41863	0.491000	0.48974	GAC		0.592	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1		NM_022911		19	107	0	0	0	0.005443	0	19	107		
SLC26A6	65010	broad.mit.edu	37	3	48671065	48671065	+	Silent	SNP	C	C	T	rs545825687		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48671065C>T	ENST00000395550.2	-	2	74	c.27G>A	c.(25-27)ccG>ccA	p.P9P	SLC26A6_ENST00000455886.2_Silent_p.P9P|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000358747.6_5'UTR|SLC26A6_ENST00000337000.8_Silent_p.P9P|SLC26A6_ENST00000383733.3_Silent_p.P9P|SLC26A6_ENST00000420764.2_Silent_p.P9P			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	9					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GTGTGTCCCTCGGTCTGGGGT	0.577																																					NSCLC(13;369 479 28271 30152 44026)	uc003cuf.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(10207-10209)CCG>CCA		cadherin EGF LAG seven-pass G-type receptor 3							94.0	101.0	98.0					3																	48671065		2134	4226	6360	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48671065C>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.27G>A	3.37:g.48671065C>T						SLC26A6_uc003cug.2_5'UTR|SLC26A6_uc003cuh.2_Silent_p.P9P|SLC26A6_uc010hke.2_5'UTR|SLC26A6_uc003cuk.2_Silent_p.P9P|SLC26A6_uc003cui.2_Silent_p.P9P|SLC26A6_uc003cuj.2_Silent_p.P9P|SLC26A6_uc011bbp.1_Silent_p.P9P	p.P3403P	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	37	10209	-			Error:Variant_position_missing_in_Q9NYQ7_after_alignment					B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Silent	SNP	ENST00000395550.2	37	c.10209G>A	CCDS43087.1																																																																																				0.577	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1		NM_022911		63	71	0	0	0	0.01441	0	63	71		
WDR6	11180	broad.mit.edu	37	3	49044905	49044905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49044905C>T	ENST00000608424.1	+	1	80	c.41C>T	c.(40-42)tCg>tTg	p.S14L	WDR6_ENST00000395474.3_Missense_Mutation_p.S44L|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000415265.2_Missense_Mutation_p.S14L			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	14					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CGGGCAACCTCGGAGCTTATA	0.627																																						uc003cvj.2		NaN																	0				central_nervous_system(1)	1						c.(130-132)TCG>TTG		WD repeat domain 6 protein							59.0	49.0	52.0					3																	49044905		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49044905C>T	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.41C>T	3.37:g.49044905C>T	ENSP00000477389:p.Ser14Leu					WDR6_uc011bbx.1_Missense_Mutation_p.S44L|WDR6_uc011bby.1_Missense_Mutation_p.S44L|WDR6_uc010hkn.2_5'UTR|WDR6_uc011bbz.1_5'Flank	p.S44L	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	1	269	+			14					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.131C>T		.	.	.	.	.	.	.	.	.	.	C	17.15	3.315261	0.60524	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000415265	T;T	0.70164	-0.46;0.18	5.02	5.02	0.67125	.	0.091548	0.45867	D	0.000338	T	0.77391	0.4123	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.79396	-0.1821	10	0.87932	D	0	-12.4031	14.2193	0.65815	0.0:1.0:0.0:0.0	.	14;14	E9PBK6;B4DK45	.;.	L	44;14;14;14	ENSP00000378857:S44L;ENSP00000387692:S14L	ENSP00000346247:S14L	S	+	2	0	WDR6	49019909	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	3.301000	0.51842	2.505000	0.84491	0.645000	0.84053	TCG		0.627	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1				5	8	0	0	0	0.001168	0	5	8		
WDR6	11180	broad.mit.edu	37	3	49050477	49050477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49050477G>A	ENST00000608424.1	+	2	1549	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	WDR6_ENST00000395474.3_Missense_Mutation_p.D534N|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Missense_Mutation_p.D453N|WDR6_ENST00000415265.2_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	504					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCCCCAGGTGACTTCCTGGT	0.622																																						uc003cvj.2		NaN																	0				central_nervous_system(1)	1						c.(1600-1602)GAC>AAC		WD repeat domain 6 protein							59.0	50.0	53.0					3																	49050477		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050477G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1510G>A	3.37:g.49050477G>A	ENSP00000477389:p.Asp504Asn					WDR6_uc011bbx.1_Silent_p.V362V|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.D478N|WDR6_uc011bbz.1_Missense_Mutation_p.D453N	p.D534N	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	1738	+			504			WD 8.		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.1600G>A		.	.	.	.	.	.	.	.	.	.	G	15.12	2.738668	0.49045	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;D	0.90004	-0.08;-2.6	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.231809	0.44688	D	0.000434	D	0.86732	0.6003	L	0.36672	1.1	0.36260	D	0.854496	P;P	0.52842	0.956;0.907	P;B	0.46796	0.527;0.444	D	0.86002	0.1495	10	0.17369	T	0.5	-33.9782	19.3776	0.94518	0.0:0.0:1.0:0.0	.	504;453	Q9NNW5;E9PDU5	WDR6_HUMAN;.	N	534;453	ENSP00000378857:D534N;ENSP00000413432:D453N	ENSP00000378857:D534N	D	+	1	0	WDR6	49025481	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	3.406000	0.52637	2.594000	0.87642	0.561000	0.74099	GAC		0.622	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1				10	36	0	0	0	0.010729	0	10	36		
NDUFAF3	25915	broad.mit.edu	37	3	49062461	49062461	+	IGR	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49062461G>C	ENST00000326925.6	+	0	2012				IMPDH2_ENST00000326739.4_Missense_Mutation_p.S388C|DALRD3_ENST00000496568.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						AGCCAGGAGAGAGCCCATCAT	0.577																																						uc003cvt.2		NaN																	0				lung(1)	1						c.(1162-1164)TCT>TGT		inosine monophosphate dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						45.0	50.0	48.0					3																	49062461		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49062461G>C		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062461G>C							p.S388C	NM_000884	NP_000875	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1255	-			388			IMP binding.			Missense_Mutation	SNP	ENST00000326925.6	37	c.1163C>G	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484458	0.84854	.	.	ENSG00000178035	ENST00000326739	D	0.81499	-1.5	5.33	5.33	0.75918	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96716	0.9529	10	0.87932	D	0	-17.862	19.0076	0.92857	0.0:0.0:1.0:0.0	.	388	P12268	IMDH2_HUMAN	C	388	ENSP00000321584:S388C	ENSP00000321584:S388C	S	-	2	0	IMPDH2	49037465	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.321000	0.96353	2.489000	0.83994	0.655000	0.94253	TCT		0.577	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2		NM_199069		12	63	0	0	0	0.013537	0	12	63		
QARS	5859	broad.mit.edu	37	3	49137494	49137494	+	Missense_Mutation	SNP	C	C	T	rs143072084		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49137494C>T	ENST00000306125.6	-	14	1532	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	QARS_ENST00000414533.1_Missense_Mutation_p.E388K|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	399					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGTGTGGCCTCGCCCTCTGAA	0.557																																						uc003cvx.2		NaN																	0				ovary(1)	1						c.(1195-1197)GAG>AAG		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)	C	LYS/GLU	0,4406		0,0,2203	156.0	143.0	148.0		1195	6.0	1.0	3	dbSNP_134	148	3,8597	3.0+/-9.4	0,3,4297	yes	missense	QARS	NM_005051.1	56	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	399/776	49137494	3,13003	2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49137494C>T	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1195G>A	3.37:g.49137494C>T	ENSP00000307567:p.Glu399Lys					QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.E254K|QARS_uc003cvy.2_Missense_Mutation_p.E254K|QARS_uc011bce.1_Missense_Mutation_p.E388K	p.E399K	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	14	1200	-			399					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.1195G>A	CCDS2788.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.60	1.685593	0.29962	0.0	3.49E-4	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.19938	2.11;2.11	5.98	5.98	0.97165	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.13927	0.0337	N	0.20807	0.61	0.80722	D	1	P;P	0.41673	0.759;0.759	B;B	0.35727	0.209;0.209	T	0.07462	-1.0771	10	0.08179	T	0.78	-27.7621	20.0397	0.97574	0.0:1.0:0.0:0.0	.	388;399	B4DWJ2;P47897	.;SYQ_HUMAN	K	399;388	ENSP00000307567:E399K;ENSP00000390015:E388K	ENSP00000307567:E399K	E	-	1	0	QARS	49112498	1.000000	0.71417	0.996000	0.52242	0.622000	0.37654	7.316000	0.79007	2.833000	0.97629	0.655000	0.94253	GAG		0.557	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2		NM_005051		20	82	0	0	0	0.012319	0	20	82		
C3orf62	375341	broad.mit.edu	37	3	49314209	49314209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49314209C>T	ENST00000343010.3	-	1	1133	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	33										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTAACTCCTTCAAAGGCCCGG	0.527																																						uc003cwn.2		NaN																	0					0						c.(97-99)GAA>AAA		hypothetical protein LOC375341							39.0	42.0	41.0					3																	49314209		2203	4300	6503	SO:0001583	missense	375341							g.chr3:49314209C>T	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.97G>A	3.37:g.49314209C>T	ENSP00000341139:p.Glu33Lys					C3orf62_uc003cwm.2_5'Flank	p.E33K	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	300	-			33					Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	c.97G>A	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.015836	0.93404	.	.	ENSG00000188315	ENST00000343010;ENST00000436325	T;T	0.60920	0.16;0.15	4.79	4.79	0.61399	.	0.120873	0.37393	N	0.002107	T	0.55893	0.1949	L	0.34521	1.04	0.37553	D	0.918765	P	0.49961	0.93	P	0.50440	0.641	T	0.65047	-0.6263	10	0.87932	D	0	-13.6568	13.1994	0.59758	0.0:1.0:0.0:0.0	.	33	Q6ZUJ4	CC062_HUMAN	K	33;31	ENSP00000341139:E33K;ENSP00000413663:E31K	ENSP00000341139:E33K	E	-	1	0	C3orf62	49289213	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.939000	0.56591	2.473000	0.83533	0.650000	0.86243	GAA		0.527	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1		NM_198562		35	27	0	0	0	0.004878	0	35	27		
TCTA	6988	broad.mit.edu	37	3	49449866	49449866	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49449866G>T	ENST00000273590.3	+	1	228	c.7G>T	c.(7-9)Gag>Tag	p.E3*	RHOA_ENST00000422781.1_5'Flank|RHOA_ENST00000265538.3_5'UTR|RHOA_ENST00000418115.1_5'Flank|RHOA_ENST00000454011.2_5'Flank|TCTA_ENST00000493381.1_3'UTR	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	3						integral component of membrane (GO:0016021)				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTCATGGCGGAGTCCTGGTC	0.706																																						uc003cwv.3		NaN																	0					0						c.(7-9)GAG>TAG		T-cell leukemia translocation altered							37.0	43.0	41.0					3																	49449866		2201	4298	6499	SO:0001587	stop_gained	6988					integral to membrane		g.chr3:49449866G>T		CCDS2796.1	3p21	2012-02-27	2012-02-27		ENSG00000145022	ENSG00000145022			11692	protein-coding gene	gene with protein product		600690	"""T-cell leukemia translocation altered gene"""			7728759	Standard	NM_022171		Approved		uc003cwv.4	P57738	OTTHUMG00000156846	ENST00000273590.3:c.7G>T	3.37:g.49449866G>T	ENSP00000273590:p.Glu3*					RHOA_uc010hku.2_5'Flank|RHOA_uc003cwu.2_5'Flank	p.E3*	NM_022171	NP_071503	P57738	TCTA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	228	+			3			Extracellular (Potential).		B2R4I4|Q6I9U4|Q9BSB0	Nonsense_Mutation	SNP	ENST00000273590.3	37	c.7G>T	CCDS2796.1	.	.	.	.	.	.	.	.	.	.	G	37	6.568079	0.97671	.	.	ENSG00000145022	ENST00000273590	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.1577	14.3671	0.66812	0.0:0.0:1.0:0.0	.	.	.	.	X	3	.	ENSP00000273590:E3X	E	+	1	0	TCTA	49424870	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	5.955000	0.70306	2.764000	0.94973	0.650000	0.86243	GAG		0.706	TCTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346210.1		NM_022171		14	16	1	0	1.62849e-17	0.004007	1.71795e-17	14	16		
AMT	275	broad.mit.edu	37	3	49455127	49455127	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49455127G>A	ENST00000273588.3	-	9	1360	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	AMT_ENST00000538581.1_Missense_Mutation_p.S297F|AMT_ENST00000546031.1_Missense_Mutation_p.S256F|AMT_ENST00000395338.2_Missense_Mutation_p.S353F|AMT_ENST00000458307.2_Missense_Mutation_p.S309F|AMT_ENST00000476226.1_5'UTR	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	353					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	CAGAGAGGGGGAGGGGCAGCC	0.587																																						uc003cww.2		NaN																	0				ovary(1)	1						c.(1057-1059)TCC>TTC		aminomethyltransferase isoform 1 precursor	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						72.0	74.0	73.0					3																	49455127		2203	4300	6503	SO:0001583	missense	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49455127G>A	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.1058C>T	3.37:g.49455127G>A	ENSP00000273588:p.Ser353Phe					AMT_uc011bcn.1_3'UTR|AMT_uc003cwx.2_Missense_Mutation_p.S353F|AMT_uc011bco.1_Missense_Mutation_p.S309F|AMT_uc003cwy.2_Missense_Mutation_p.S305F|AMT_uc011bcp.1_Missense_Mutation_p.S256F|AMT_uc011bcq.1_Missense_Mutation_p.S297F	p.S353F	NM_000481	NP_000472	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1187	-			353					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	ENST00000273588.3	37	c.1058C>T	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141371	0.57044	.	.	ENSG00000145020	ENST00000395338;ENST00000458307;ENST00000273588;ENST00000538581;ENST00000546031	D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08	4.75	4.75	0.60458	Glycine cleavage T-protein, C-terminal barrel (1);	0.000000	0.85682	D	0.000000	D	0.95847	0.8648	H	0.97732	4.065	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;0.998;1.0;1.0	D	0.97418	1.0007	10	0.87932	D	0	-4.5302	15.2788	0.73764	0.0:0.0:1.0:0.0	.	297;309;353;353	B4DE61;B4DJQ0;E9PBG1;P48728	.;.;.;GCST_HUMAN	F	353;309;353;297;256	ENSP00000378747:S353F;ENSP00000415619:S309F;ENSP00000273588:S353F;ENSP00000443200:S297F;ENSP00000440672:S256F	ENSP00000273588:S353F	S	-	2	0	AMT	49430131	1.000000	0.71417	0.985000	0.45067	0.027000	0.11550	9.652000	0.98499	2.203000	0.70933	0.563000	0.77884	TCC		0.587	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2		NM_000481		20	25	0	0	0	0.007291	0	20	25		
APEH	327	broad.mit.edu	37	3	49718651	49718651	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49718651G>C	ENST00000296456.5	+	15	1817	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	APEH_ENST00000438011.1_Missense_Mutation_p.E473Q	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	473					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCACCCCCAGAGCAAGAGAA	0.617																																						uc003cxf.2		NaN																	0				ovary(1)	1						c.(1417-1419)GAG>CAG		N-acylaminoacyl-peptide hydrolase							63.0	58.0	60.0					3																	49718651		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49718651G>C	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1417G>C	3.37:g.49718651G>C	ENSP00000296456:p.Glu473Gln					APEH_uc010hkw.1_Missense_Mutation_p.E473Q	p.E473Q	NM_001640	NP_001631	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	15	1817	+			473					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1417G>C	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143845	0.57044	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.47869	0.83;0.84	5.16	4.26	0.50523	.	0.104177	0.64402	D	0.000004	T	0.41811	0.1175	L	0.47716	1.5	0.53688	D	0.999977	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.21008	-1.0258	10	0.29301	T	0.29	-25.352	14.4204	0.67180	0.0:0.0:0.851:0.149	.	473;473	C9JIF9;P13798	.;ACPH_HUMAN	Q	473	ENSP00000296456:E473Q;ENSP00000415862:E473Q	ENSP00000296456:E473Q	E	+	1	0	APEH	49693655	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.460000	0.73518	1.114000	0.41781	0.561000	0.74099	GAG		0.617	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2				26	27	0	0	0	0.00632	0	26	27		
RNF123	63891	broad.mit.edu	37	3	49724697	49724697	+	5'Flank	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49724697A>T	ENST00000327697.6	+	0	0				MST1_ENST00000449682.2_Missense_Mutation_p.N164K|RNF123_ENST00000432042.1_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.N89K|MST1_ENST00000545762.1_Missense_Mutation_p.M112K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTTCCAGGCCATTCCGGAGAG	0.612																																						uc003cxg.2		NaN																	0				lung(1)	1						c.(490-492)AAT>AAA		macrophage stimulating 1 (hepatocyte growth							39.0	37.0	38.0					3																	49724697		2202	4300	6502	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724697A>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724697A>T	Exception_encountered					MST1_uc011bcs.1_Missense_Mutation_p.N164K|MST1_uc010hkx.2_Missense_Mutation_p.N85K|MST1_uc011bct.1_Missense_Mutation_p.N164K|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	p.N164K	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	564	-			150			Kringle 1.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.492T>A	CCDS33758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.00|13.00	2.105047|2.105047	0.37145|0.37145	.|.	.|.	ENSG00000173531|ENSG00000173531	ENST00000545762|ENST00000449682;ENST00000383728	T|T;T	0.46819|0.64260	0.86|-0.09;-0.09	5.81|5.81	-6.69|-6.69	0.01772|0.01772	.|Kringle (4);Kringle-like fold (1);	.|0.000000	.|0.45126	.|D	.|0.000383	T|T	0.57242|0.57242	0.2040|0.2040	L|L	0.33137|0.33137	0.985|0.985	0.25213|0.25213	N|N	0.989965|0.989965	.|D;D;D	.|0.76494	.|0.999;0.998;0.999	.|D;D;D	.|0.83275	.|0.996;0.969;0.967	T|T	0.58962|0.58962	-0.7543|-0.7543	6|10	.|0.09843	.|T	.|0.71	.|.	10.9196|10.9196	0.47156|0.47156	0.3643:0.0:0.5338:0.1019|0.3643:0.0:0.5338:0.1019	.|.	.|150;150;164	.|B7Z538;P26927;G3XAK1	.|.;HGFL_HUMAN;.	K|K	112|164;89	ENSP00000437535:M112K|ENSP00000414287:N164K;ENSP00000373234:N89K	.|ENSP00000373234:N89K	M|N	-|-	2|3	0|2	MST1|MST1	49699701|49699701	0.008000|0.008000	0.16893|0.16893	0.650000|0.650000	0.29550|0.29550	0.865000|0.865000	0.49528|0.49528	-0.618000|-0.618000	0.05578|0.05578	-1.270000|-1.270000	0.02433|0.02433	0.482000|0.482000	0.46254|0.46254	ATG|AAT		0.612	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2		NM_022064		15	22	0	0	0	0.003163	0	15	22		
TMEM115	11070	broad.mit.edu	37	3	50396052	50396052	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:50396052G>A	ENST00000266025.3	-	1	989	c.443C>T	c.(442-444)gCa>gTa	p.A148V	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	148					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTGCTTGAGTGCCACCAGGAC	0.622																																						uc003dan.1		NaN																	0					0						c.(442-444)GCA>GTA		PL6 protein							39.0	38.0	38.0					3																	50396052		2202	4300	6502	SO:0001583	missense	11070				negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus		g.chr3:50396052G>A	BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"""placental protein 6"""	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.443C>T	3.37:g.50396052G>A	ENSP00000266025:p.Ala148Val						p.A148V	NM_007024	NP_008955	Q12893	TM115_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	888	-			148			Helical; (Potential).		A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	ENST00000266025.3	37	c.443C>T	CCDS2828.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199398	0.94997	.	.	ENSG00000126062	ENST00000266025	T	0.14144	2.53	5.5	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43782	-0.9370	10	0.45353	T	0.12	-0.0499	14.6469	0.68767	0.0:0.0:0.8541:0.1459	.	148	Q12893	TM115_HUMAN	V	148	ENSP00000266025:A148V	ENSP00000266025:A148V	A	-	2	0	TMEM115	50371056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.860000	0.86993	2.575000	0.86900	0.563000	0.77884	GCA		0.622	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102784.3		NM_007024		14	14	0	0	0	0.001855	0	14	14		
MANF	7873	broad.mit.edu	37	3	51426367	51426367	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:51426367G>A	ENST00000528157.1	+	4	692	c.396G>A	c.(394-396)ctG>ctA	p.L132L	RBM15B_ENST00000323686.4_5'Flank|MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	132					response to unfolded protein (GO:0006986)|vasoconstriction of artery involved in ischemic response to lowering of systemic arterial blood pressure (GO:0002014)	extracellular space (GO:0005615)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						CAGTGGACCTGAAGAAGCTCC	0.527											OREG0015594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003dbc.2		NaN																	0					0						c.(403-405)CTG>CTA		mesencephalic astrocyte-derived neurotrophic							37.0	40.0	39.0					3																	51426367		1952	4145	6097	SO:0001819	synonymous_variant	7873				response to unfolded protein	extracellular region	growth factor activity	g.chr3:51426367G>A	M83751	CCDS46836.1, CCDS46836.2	3p21.1	2010-12-09	2009-06-04	2009-06-04	ENSG00000145050	ENSG00000145050			15461	protein-coding gene	gene with protein product		601916	"""arginine-rich, mutated in early stage tumors"""	ARMET		12794311	Standard	NM_006010		Approved	ARP	uc003dbc.3	P55145	OTTHUMG00000156897	ENST00000528157.1:c.396G>A	3.37:g.51426367G>A			OREG0015594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	977	RBM15B_uc003dbd.2_5'Flank	p.L135L	NM_006010	NP_006001	P55145	MANF_HUMAN			4	467	+			132					Q14CX4|Q86U67|Q96IS4	Silent	SNP	ENST00000528157.1	37	c.405G>A	CCDS46836.2																																																																																				0.527	MANF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346490.3		NM_006010		4	4	0	0	0	0.009096	0	4	4		
RAD54L2	23132	broad.mit.edu	37	3	51672281	51672281	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:51672281G>A	ENST00000409535.2	+	11	1929	c.1804G>A	c.(1804-1806)Ggt>Agt	p.G602S	RAD54L2_ENST00000296477.3_Missense_Mutation_p.G296S	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	602						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCGGGACTGTGGTAGCAGCGG	0.522											OREG0015596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011bdt.1		NaN																	0				ovary(3)	3						c.(1804-1806)GGT>AGT		RAD54-like 2							106.0	99.0	101.0					3																	51672281		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51672281G>A	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1804G>A	3.37:g.51672281G>A	ENSP00000386520:p.Gly602Ser		OREG0015596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	979	RAD54L2_uc003dbh.2_Missense_Mutation_p.G193S|RAD54L2_uc011bdu.1_Missense_Mutation_p.G296S|RAD54L2_uc003dbj.2_5'UTR	p.G602S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	11	1929	+			602					Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.1804G>A	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.302124|5.302124	0.95601|0.95601	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	T;T|.	0.78816|.	-1.21;-1.21|.	5.91|5.91	5.91|5.91	0.95273|0.95273	SNF2-related (1);|.	0.047507|.	0.85682|.	D|.	0.000000|.	T|.	0.55016|.	0.1894|.	N|N	0.20807|0.20807	0.61|0.61	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.49961|.	0.868;0.93|.	P;P|.	0.53689|.	0.664;0.732|.	T|.	0.47509|.	-0.9112|.	10|.	0.34782|.	T|.	0.22|.	-15.3159|-15.3159	19.2845|19.2845	0.94065|0.94065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	602;193|.	Q9Y4B4;B3KV54|.	ARIP4_HUMAN;.|.	S|X	602;296|430	ENSP00000386520:G602S;ENSP00000296477:G296S|.	ENSP00000296477:G296S|.	G|W	+|+	1|2	0|0	RAD54L2|RAD54L2	51647321|51647321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.882000|7.882000	0.87258|0.87258	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.522	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2		NM_015106		22	27	0	0	0	0.003954	0	22	27		
ERC2	26059	broad.mit.edu	37	3	56114883	56114883	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:56114883C>G	ENST00000288221.6	-	7	1858	c.1603G>C	c.(1603-1605)Gaa>Caa	p.E535Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	535						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCTTCACTTCTAACATATCT	0.368																																						uc003dhr.1		NaN																	0				ovary(2)	2						c.(1603-1605)GAA>CAA		cytomatrix protein p110							163.0	145.0	151.0					3																	56114883		1871	4096	5967	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56114883C>G	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1603G>C	3.37:g.56114883C>G	ENSP00000288221:p.Glu535Gln					ERC2_uc003dht.1_Missense_Mutation_p.E6Q	p.E535Q	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	7	1859	-			535			Potential.		Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.1603G>C	CCDS46851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.275068|5.275068	0.95459|0.95459	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.53640|.	0.61|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.048235|.	0.85682|.	D|.	0.000000|.	T|.	0.70298|.	0.3208|.	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999994|0.999994	P|.	0.46064|.	0.872|.	P|.	0.45377|.	0.478|.	T|.	0.64732|.	-0.6338|.	10|.	0.59425|.	D|.	0.04|.	-19.195|-19.195	20.0714|20.0714	0.97726|0.97726	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	535|.	O15083|.	ERC2_HUMAN|.	Q|Y	535|173	ENSP00000288221:E535Q|.	ENSP00000288221:E535Q|.	E|X	-|-	1|3	0|2	ERC2|ERC2	56089923|56089923	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.750000|2.750000	0.94351|0.94351	0.585000|0.585000	0.79938|0.79938	GAA|TAG		0.368	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2		NM_015576		22	23	0	0	0	0.012319	0	22	23		
CCDC66	285331	broad.mit.edu	37	3	56627024	56627024	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:56627024C>T	ENST00000394672.3	+	8	1033	c.963C>T	c.(961-963)ttC>ttT	p.F321F	CCDC66_ENST00000436465.2_Silent_p.F321F|CCDC66_ENST00000326595.7_Silent_p.F287F	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	321					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGCACCCTTTCAGTGCTGTGA	0.343																																						uc003dhz.2		NaN																	0				breast(1)	1						c.(961-963)TTC>TTT		coiled-coil domain containing 66 isoform 1							107.0	116.0	113.0					3																	56627024		2203	4300	6503	SO:0001819	synonymous_variant	285331							g.chr3:56627024C>T	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.963C>T	3.37:g.56627024C>T						CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Silent_p.F287F|CCDC66_uc003dhx.2_RNA	p.F321F	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	8	1050	+			321					B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	c.963C>T	CCDS46852.1																																																																																				0.343	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1		NM_001012506		49	147	0	0	0	0.01441	0	49	147		
FLNB	2317	broad.mit.edu	37	3	58106996	58106996	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:58106996C>T	ENST00000295956.4	+	20	3057	c.2892C>T	c.(2890-2892)ttC>ttT	p.F964F	FLNB_ENST00000357272.4_Silent_p.F964F|FLNB_ENST00000358537.3_Silent_p.F964F|FLNB_ENST00000493452.1_Silent_p.F795F|FLNB_ENST00000419752.2_Silent_p.F795F|FLNB_ENST00000429972.2_Silent_p.F964F|FLNB_ENST00000490882.1_Silent_p.F964F|FLNB_ENST00000348383.5_Silent_p.F964F	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	964					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATCAGGAGTTCACCGTTGATA	0.562																																						uc003djj.2		NaN																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(2890-2892)TTC>TTT		filamin B isoform 2							138.0	133.0	135.0					3																	58106996		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58106996C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2892C>T	3.37:g.58106996C>T						FLNB_uc010hne.2_Silent_p.F964F|FLNB_uc003djk.2_Silent_p.F964F|FLNB_uc010hnf.2_Silent_p.F964F|FLNB_uc003djl.2_Silent_p.F795F|FLNB_uc003djm.2_Silent_p.F795F	p.F964F	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	20	3057	+			964			Filamin 8.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.2892C>T	CCDS2885.1																																																																																				0.562	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1		NM_001457		44	139	0	0	0	0.010771	0	44	139		
FLNB	2317	broad.mit.edu	37	3	58109098	58109098	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:58109098A>T	ENST00000295956.4	+	21	3570	c.3405A>T	c.(3403-3405)aaA>aaT	p.K1135N	FLNB_ENST00000357272.4_Missense_Mutation_p.K1135N|FLNB_ENST00000358537.3_Missense_Mutation_p.K1135N|FLNB_ENST00000493452.1_Missense_Mutation_p.K966N|FLNB_ENST00000419752.2_Missense_Mutation_p.K966N|FLNB_ENST00000429972.2_Missense_Mutation_p.K1135N|FLNB_ENST00000490882.1_Missense_Mutation_p.K1135N|FLNB_ENST00000348383.5_Missense_Mutation_p.K1135N	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1135	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACCCCTCTAAAGTCGTGGCAT	0.592																																						uc003djj.2		NaN																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(3403-3405)AAA>AAT		filamin B isoform 2							90.0	99.0	96.0					3																	58109098		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58109098A>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3405A>T	3.37:g.58109098A>T	ENSP00000295956:p.Lys1135Asn					FLNB_uc010hne.2_Missense_Mutation_p.K1135N|FLNB_uc003djk.2_Missense_Mutation_p.K1135N|FLNB_uc010hnf.2_Missense_Mutation_p.K1135N|FLNB_uc003djl.2_Missense_Mutation_p.K966N|FLNB_uc003djm.2_Missense_Mutation_p.K966N	p.K1135N	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	21	3570	+			1135			Interaction with FBLP1.|Filamin 10.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.3405A>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061755	0.76187	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	5.97	-1.46	0.08800	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93210	0.7837	M	0.90977	3.165	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.993;0.992;0.999;0.996;0.999;0.999	D	0.92218	0.5782	10	0.87932	D	0	.	11.1416	0.48406	0.5136:0.0:0.4864:0.0	.	1135;1135;966;966;1135;1135	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	N	1135;1135;1135;1135;1135;1135;966;966	ENSP00000295956:K1135N;ENSP00000420213:K1135N;ENSP00000351339:K1135N;ENSP00000415599:K1135N;ENSP00000232447:K1135N;ENSP00000349819:K1135N;ENSP00000418510:K966N;ENSP00000414532:K966N	ENSP00000295956:K1135N	K	+	3	2	FLNB	58084138	1.000000	0.71417	0.650000	0.29550	0.897000	0.52465	1.566000	0.36396	-0.157000	0.11059	0.533000	0.62120	AAA		0.592	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1		NM_001457		73	58	0	0	0	0.01441	0	73	58		
PXK	54899	broad.mit.edu	37	3	58377553	58377553	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:58377553C>T	ENST00000356151.2	+	7	703	c.594C>T	c.(592-594)atC>atT	p.I198I	PXK_ENST00000383715.4_Silent_p.I181I|PXK_ENST00000484288.1_Silent_p.I198I|PXK_ENST00000463280.1_Silent_p.I165I|PXK_ENST00000302779.5_Silent_p.I181I|PXK_ENST00000383716.3_Silent_p.I165I|PXK_ENST00000536660.1_Silent_p.I61I|PXK_ENST00000479241.1_Silent_p.I181I	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGTGTCTAATCAAACTTCTGC	0.388																																						uc003djz.1		NaN																	0				ovary(1)	1						c.(592-594)ATC>ATT		PX domain containing serine/threonine kinase							193.0	182.0	185.0					3																	58377553		2203	4300	6503	SO:0001819	synonymous_variant	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58377553C>T	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.594C>T	3.37:g.58377553C>T						PXK_uc003djx.1_Silent_p.I198I|PXK_uc003djy.1_Silent_p.I181I|PXK_uc003dka.1_Silent_p.I198I|PXK_uc003dkb.1_Silent_p.I115I|PXK_uc003dkc.1_Silent_p.I181I|PXK_uc011bfe.1_Silent_p.I165I|PXK_uc010hnj.1_Silent_p.I165I|PXK_uc003dkd.1_Silent_p.I61I|PXK_uc010hnk.1_Intron	p.I198I	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	7	693	+			198			Protein kinase.			Silent	SNP	ENST00000356151.2	37	c.594C>T	CCDS2889.1																																																																																				0.388	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1		NM_017771		75	82	0	0	0	0.01441	0	75	82		
SYNPR	132204	broad.mit.edu	37	3	63600994	63600994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:63600994C>T	ENST00000295894.5	+	5	1004	c.635C>T	c.(634-636)tCa>tTa	p.S212L	SYNPR_ENST00000478300.1_Missense_Mutation_p.S232L|SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000465156.1_Missense_Mutation_p.S148L|SYNPR_ENST00000460711.1_Missense_Mutation_p.S223L	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	212	5 X approximate repeats.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		AGATATCTTTCAGATCCAATG	0.468																																					NSCLC(29;1052 1116 20025 32519)	uc003dlq.2		NaN																	0					0						c.(634-636)TCA>TTA		synaptoporin isoform 2							54.0	52.0	53.0					3																	63600994		1923	4132	6055	SO:0001583	missense	132204					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity	g.chr3:63600994C>T	AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.635C>T	3.37:g.63600994C>T	ENSP00000295894:p.Ser212Leu					SYNPR_uc003dlp.2_Missense_Mutation_p.S232L|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Missense_Mutation_p.S221L|SYNPR_uc011bfm.1_RNA	p.S212L	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)	5	1004	+			212			Cytoplasmic (Potential).|5 X approximate repeats.|1.		B2R675|G5E9W4	Missense_Mutation	SNP	ENST00000295894.5	37	c.635C>T	CCDS46860.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507406	0.27036	.	.	ENSG00000163630	ENST00000478300;ENST00000295894;ENST00000460711;ENST00000465156	T;T;T;T	0.45276	1.93;1.93;1.91;0.9	5.23	5.23	0.72850	.	0.746656	0.12985	N	0.422945	T	0.29976	0.0750	N	0.19112	0.55	0.18873	N	0.999982	B;B;B	0.19331	0.021;0.012;0.035	B;B;B	0.19391	0.011;0.011;0.025	T	0.11084	-1.0602	10	0.26408	T	0.33	-2.7745	12.8591	0.57903	0.1626:0.8373:0.0:0.0	.	223;212;232	B3KVD8;Q8TBG9;G5E9W4	.;SYNPR_HUMAN;.	L	232;212;223;148	ENSP00000418994:S232L;ENSP00000295894:S212L;ENSP00000418701:S223L;ENSP00000418123:S148L	ENSP00000295894:S212L	S	+	2	0	SYNPR	63576034	0.531000	0.26338	0.878000	0.34440	0.562000	0.35680	1.462000	0.35266	2.439000	0.82584	0.467000	0.42956	TCA		0.468	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1				6	26	0	0	0	0.001168	0	6	26		
PRICKLE2	166336	broad.mit.edu	37	3	64142939	64142939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:64142939C>T	ENST00000295902.6	-	5	1084	c.499G>A	c.(499-501)Gag>Aag	p.E167K	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E223K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	167	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACCAGGAGCTCATTGCAGACA	0.577																																						uc003dmf.2		NaN																	0				ovary(4)|skin(1)	5						c.(499-501)GAG>AAG		prickle-like 2							79.0	67.0	71.0					3																	64142939		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64142939C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.499G>A	3.37:g.64142939C>T	ENSP00000295902:p.Glu167Lys						p.E167K	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	5	1085	-		Lung NSC(201;0.136)	167			LIM zinc-binding 1.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.499G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130391	0.94473	.	.	ENSG00000163637	ENST00000295902	D	0.86164	-2.08	5.82	5.82	0.92795	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000001	D	0.91720	0.7382	L	0.50333	1.59	0.80722	D	1	P	0.50710	0.938	P	0.62740	0.906	D	0.91784	0.5438	10	0.87932	D	0	-39.4461	20.0989	0.97860	0.0:1.0:0.0:0.0	.	167	Q7Z3G6	PRIC2_HUMAN	K	167	ENSP00000295902:E167K	ENSP00000295902:E167K	E	-	1	0	PRICKLE2	64117979	1.000000	0.71417	0.956000	0.39512	0.109000	0.19521	7.776000	0.85560	2.764000	0.94973	0.650000	0.86243	GAG		0.577	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1		NM_198859		24	23	0	0	0	0.012213	0	24	23		
KBTBD8	84541	broad.mit.edu	37	3	67054357	67054357	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:67054357T>C	ENST00000417314.2	+	3	1015	c.966T>C	c.(964-966)aaT>aaC	p.N322N	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Silent_p.N296N			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	322						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AACCACCAAATGACCTGAGAG	0.443																																						uc003dmy.2		NaN																	0				ovary(2)|large_intestine(1)|breast(1)	4						c.(964-966)AAT>AAC		T-cell activation kelch repeat protein							141.0	137.0	138.0					3																	67054357		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67054357T>C	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.966T>C	3.37:g.67054357T>C						KBTBD8_uc011bfv.1_Intron	p.N322N	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1019	+		Lung NSC(201;0.0765)	322					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.966T>C	CCDS2906.2																																																																																				0.443	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1		NM_032505		71	77	0	0	0	0.01441	0	71	77		
TMF1	7110	broad.mit.edu	37	3	69074854	69074854	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:69074854G>A	ENST00000398559.2	-	15	3085	c.2869C>T	c.(2869-2871)Cat>Tat	p.H957Y	TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.H960Y|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	957					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GAGTGATCATGAGACTCATCC	0.368																																						uc003dnn.2		NaN																	0					0						c.(2869-2871)CAT>TAT		TATA element modulatory factor 1							98.0	89.0	92.0					3																	69074854		1902	4111	6013	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69074854G>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2869C>T	3.37:g.69074854G>A	ENSP00000381567:p.His957Tyr					TMF1_uc011bfx.1_Missense_Mutation_p.H960Y	p.H957Y	NM_007114	NP_009045	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	15	3116	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	957					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.2869C>T	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803171	0.16397	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.18502	2.22;2.21	5.09	4.22	0.49857	.	0.425959	0.25866	N	0.027787	T	0.10680	0.0261	L	0.27053	0.805	0.38972	D	0.958776	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08166	-1.0735	10	0.02654	T	1	-2.2244	13.3504	0.60599	0.0762:0.0:0.9238:0.0	.	960;957	P82094-2;P82094	.;TMF1_HUMAN	Y	957;960;873	ENSP00000381567:H957Y;ENSP00000438706:H960Y	ENSP00000348582:H873Y	H	-	1	0	TMF1	69157544	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	3.115000	0.50391	1.161000	0.42604	0.580000	0.79431	CAT		0.368	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1		NM_007114		30	72	0	0	0	0.010818	0	30	72		
UBA3	9039	broad.mit.edu	37	3	69112141	69112141	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:69112141G>T	ENST00000361055.4	-	9	739	c.685C>A	c.(685-687)Cca>Aca	p.P229T	UBA3_ENST00000415609.2_Missense_Mutation_p.P188T|UBA3_ENST00000540295.1_Missense_Mutation_p.P52T|UBA3_ENST00000349511.4_Missense_Mutation_p.P215T	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	229	Interaction with NEDD8.				cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ACCTGTGGTGGATAAAGTTCC	0.388																																						uc003dno.2		NaN																	0				ovary(1)	1						c.(685-687)CCA>ACA		ubiquitin-activating enzyme 3 isoform 1							94.0	96.0	95.0					3																	69112141		2203	4300	6503	SO:0001583	missense	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69112141G>T	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.685C>A	3.37:g.69112141G>T	ENSP00000354340:p.Pro229Thr					UBA3_uc003dnq.2_Missense_Mutation_p.P215T|UBA3_uc011bfy.1_Missense_Mutation_p.P52T|UBA3_uc011bfz.1_Missense_Mutation_p.P52T	p.P229T	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	9	705	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	229			Interaction with NEDD8.		A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	ENST00000361055.4	37	c.685C>A	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952459	0.53293	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511;ENST00000540295	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.66	5.66	0.87406	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	M	0.75150	2.29	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.68192	0.956;0.911	T	0.62153	-0.6914	10	0.52906	T	0.07	-8.7696	19.7415	0.96232	0.0:0.0:1.0:0.0	.	215;229	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	T	188;229;215;52	ENSP00000400294:P188T;ENSP00000354340:P229T;ENSP00000340041:P215T;ENSP00000440085:P52T	ENSP00000340041:P215T	P	-	1	0	UBA3	69194831	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	9.835000	0.99442	2.656000	0.90262	0.655000	0.94253	CCA		0.388	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1		NM_198195		71	63	1	0	8.27458e-37	0.01441	8.78895e-37	71	63		
FOXP1	27086	broad.mit.edu	37	3	71037150	71037150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:71037150G>A	ENST00000318789.4	-	14	1666	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q383*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q381*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q381*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q381*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q305*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q381*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	381					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTTACGGGCTGAGGGGCGGCT	0.493			T	PAX5	ALL																																	uc003dol.2		NaN		Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				ovary(1)|lung(1)	2						c.(1141-1143)CAG>TAG		forkhead box P1 isoform 1							190.0	202.0	198.0					3																	71037150		2203	4300	6503	SO:0001587	stop_gained	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71037150G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1141C>T	3.37:g.71037150G>A	ENSP00000318902:p.Gln381*					FOXP1_uc003dom.2_Nonsense_Mutation_p.Q305*|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Nonsense_Mutation_p.Q381*|FOXP1_uc003dop.2_Nonsense_Mutation_p.Q381*|FOXP1_uc003doq.1_Nonsense_Mutation_p.Q380*|FOXP1_uc003doi.2_Nonsense_Mutation_p.Q281*|FOXP1_uc003doj.2_Nonsense_Mutation_p.Q281*|FOXP1_uc003dok.2_Nonsense_Mutation_p.Q194*|FOXP1_uc003dor.1_Nonsense_Mutation_p.Q159*	p.Q381*	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	10	1464	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	381					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Nonsense_Mutation	SNP	ENST00000318789.4	37	c.1141C>T	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	38	6.928712	0.97940	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	.	.	.	5.6	5.6	0.85130	.	0.051023	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	14.4465	0.67352	0.0:0.0:0.8528:0.1472	.	.	.	.	X	381;193;281;381;381;277;383;381;381;305;381	.	ENSP00000318902:Q381X	Q	-	1	0	FOXP1	71119840	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.645000	0.83430	2.636000	0.89361	0.655000	0.94253	CAG		0.493	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1		NM_032682		69	194	0	0	0	0.01441	0	69	194		
PROS1	5627	broad.mit.edu	37	3	93611869	93611869	+	Missense_Mutation	SNP	G	G	A	rs387906674		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:93611869G>A	ENST00000394236.3	-	10	1379	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	PROS1_ENST00000407433.1_Missense_Mutation_p.R224C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	355	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> H (in THPH5). {ECO:0000269|PubMed:15238143}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTTCCACCACGAAGTGCAATC	0.393																																						uc003drb.3		NaN																	0				large_intestine(1)	1						c.(1063-1065)CGT>TGT		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						109.0	100.0	103.0					3																	93611869		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93611869G>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1063C>T	3.37:g.93611869G>A	ENSP00000377783:p.Arg355Cys					PROS1_uc010hoo.2_Missense_Mutation_p.R224C|PROS1_uc003dqz.3_Missense_Mutation_p.R224C	p.R355C	NM_000313	NP_000304	P07225	PROS_HUMAN			10	1404	-			355		R -> H (in PROS1D).	Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1063C>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582397	0.46006	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.77358	-1.09;-1.09	4.47	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.89462	0.6722	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91501	0.5219	10	0.87932	D	0	.	13.8955	0.63768	0.0:0.0:0.8475:0.1525	.	355	P07225	PROS_HUMAN	C	355;224	ENSP00000377783:R355C;ENSP00000385794:R224C	ENSP00000377783:R355C	R	-	1	0	PROS1	95094559	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	4.333000	0.59285	2.327000	0.79052	0.585000	0.79938	CGT		0.393	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1		NM_000313		8	120	0	0	0	0.00308	0	8	120		
STX19	415117	broad.mit.edu	37	3	93733304	93733304	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:93733304T>C	ENST00000315099.2	-	2	1066	c.810A>G	c.(808-810)ctA>ctG	p.L270L	ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	270	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						ATTTTACAGCTAGTCCAAATT	0.328																																						uc003drh.1		NaN																	0					0						c.(808-810)CTA>CTG		syntaxin 19							57.0	57.0	57.0					3																	93733304		2201	4297	6498	SO:0001819	synonymous_variant	415117				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity	g.chr3:93733304T>C	AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.810A>G	3.37:g.93733304T>C						ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	p.L270L	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN			2	1067	-			270			t-SNARE coiled-coil homology.			Silent	SNP	ENST00000315099.2	37	c.810A>G	CCDS33793.1																																																																																				0.328	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1		NM_001001850		39	30	0	0	0	0.005524	0	39	30		
MINA	84864	broad.mit.edu	37	3	97668720	97668720	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:97668720G>A	ENST00000333396.7	-	7	1610	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	MINA_ENST00000360258.4_Missense_Mutation_p.S342F|MINA_ENST00000394198.2_Missense_Mutation_p.S343F	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						ATCTCCCGCAGAGTAAGGGGG	0.522																																						uc003drz.1		NaN																	0				ovary(1)	1						c.(1027-1029)TCT>TTT		MYC induced nuclear antigen isoform a							68.0	68.0	68.0					3																	97668720		2203	4300	6503	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97668720G>A	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.1028C>T	3.37:g.97668720G>A	ENSP00000328251:p.Ser343Phe					MINA_uc003dry.1_Missense_Mutation_p.S14F|MINA_uc003dsa.1_Missense_Mutation_p.S342F|MINA_uc003dsb.1_Missense_Mutation_p.S343F|MINA_uc003dsc.1_Missense_Mutation_p.S342F|MINA_uc010hpa.1_RNA	p.S343F	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN			7	1534	-			343						Missense_Mutation	SNP	ENST00000333396.7	37	c.1028C>T	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	G	5.350	0.249947	0.10130	.	.	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.18174	2.23;2.23;2.23	5.95	-6.44	0.01920	Cupin, JmjC-type (1);	1.193250	0.05620	N	0.579802	T	0.04588	0.0125	N	0.02802	-0.49	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.35051	-0.9804	10	0.10111	T	0.7	8.6439	2.7621	0.05310	0.1146:0.3665:0.2517:0.2672	.	342;343	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	F	89;343;343;342	ENSP00000328251:S343F;ENSP00000377748:S343F;ENSP00000353395:S342F	ENSP00000328251:S343F	S	-	2	0	MINA	99151410	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.724000	0.04947	-1.011000	0.03391	-0.262000	0.10625	TCT		0.522	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3		NM_032778		11	60	0	0	0	0.001855	0	11	60		
ABI3BP	25890	broad.mit.edu	37	3	100471769	100471769	+	Missense_Mutation	SNP	C	C	G	rs376063774		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:100471769C>G	ENST00000284322.5	-	33	2960	c.2851G>C	c.(2851-2853)Gaa>Caa	p.E951Q	ABI3BP_ENST00000383691.4_Missense_Mutation_p.E905Q|ABI3BP_ENST00000471714.1_Missense_Mutation_p.E1653Q	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	951					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AAGGGTCTTTCAGTCCAGATG	0.373																																						uc003dun.2		NaN																	0				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(2851-2853)GAA>CAA		ABI gene family, member 3 (NESH) binding protein							79.0	73.0	75.0					3																	100471769		1850	4099	5949	SO:0001583	missense	25890					extracellular space		g.chr3:100471769C>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2851G>C	3.37:g.100471769C>G	ENSP00000284322:p.Glu951Gln					ABI3BP_uc003duj.2_Missense_Mutation_p.E531Q|ABI3BP_uc003duk.2_Missense_Mutation_p.E660Q|ABI3BP_uc003dul.2_Missense_Mutation_p.E781Q|ABI3BP_uc011bhd.1_Missense_Mutation_p.E905Q|ABI3BP_uc003dum.2_Missense_Mutation_p.E362Q	p.E951Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			33	2936	-			951					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.2851G>C	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982507	0.74474	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	T;T;T	0.68479	-0.33;-0.33;-0.33	6.02	6.02	0.97574	.	0.051931	0.85682	D	0.000000	T	0.71779	0.3380	N	0.13043	0.29	0.44309	D	0.99718	D;B;D;D	0.89917	0.998;0.374;0.996;1.0	D;B;D;D	0.85130	0.993;0.168;0.98;0.997	T	0.73285	-0.4031	10	0.45353	T	0.12	-21.8249	20.547	0.99278	0.0:1.0:0.0:0.0	.	905;951;1653;660	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	Q	1653;951;660;362;905	ENSP00000420524:E1653Q;ENSP00000284322:E951Q;ENSP00000373189:E905Q	ENSP00000284322:E951Q	E	-	1	0	ABI3BP	101954459	0.998000	0.40836	0.997000	0.53966	0.990000	0.78478	3.234000	0.51320	2.850000	0.98022	0.650000	0.86243	GAA		0.373	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1				36	40	0	0	0	0.004878	0	36	40		
MYH15	22989	broad.mit.edu	37	3	108102561	108102561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:108102561G>A	ENST00000273353.3	-	41	5763	c.5707C>T	c.(5707-5709)Caa>Taa	p.Q1903*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1903						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAAAGGTATTGATTGGCTTGT	0.333																																						uc003dxa.1		NaN																	0				ovary(5)|central_nervous_system(2)	7						c.(5707-5709)CAA>TAA		myosin, heavy polypeptide 15							140.0	125.0	129.0					3																	108102561		1821	4079	5900	SO:0001587	stop_gained	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108102561G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5707C>T	3.37:g.108102561G>A	ENSP00000273353:p.Gln1903*						p.Q1903*	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			41	5764	-			1903			Potential.			Nonsense_Mutation	SNP	ENST00000273353.3	37	c.5707C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	44	11.185689	0.99528	.	.	ENSG00000144821	ENST00000273353	.	.	.	6.08	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	7.328	0.26566	0.067:0.1237:0.6811:0.1283	.	.	.	.	X	1903	.	ENSP00000273353:Q1903X	Q	-	1	0	MYH15	109585251	0.995000	0.38212	0.751000	0.31187	0.986000	0.74619	0.818000	0.27295	0.882000	0.36016	0.591000	0.81541	CAA		0.333	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1		XM_036988		28	102	0	0	0	0.005443	0	28	102		
MYH15	22989	broad.mit.edu	37	3	108139937	108139937	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:108139937C>G	ENST00000273353.3	-	29	3943	c.3887G>C	c.(3886-3888)aGt>aCt	p.S1296T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1296						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTACTTACCACTCTCACTCCA	0.463																																						uc003dxa.1		NaN																	0				ovary(5)|central_nervous_system(2)	7						c.(3886-3888)AGT>ACT		myosin, heavy polypeptide 15							249.0	233.0	239.0					3																	108139937		2028	4194	6222	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108139937C>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3887G>C	3.37:g.108139937C>G	ENSP00000273353:p.Ser1296Thr						p.S1296T	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			29	3944	-			1296			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.3887G>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571642	0.28003	.	.	ENSG00000144821	ENST00000273353	T	0.77620	-1.11	4.64	1.33	0.21861	Myosin tail (1);	.	.	.	.	T	0.63896	0.2550	N	0.22421	0.69	0.25298	N	0.989302	B	0.17852	0.024	B	0.25614	0.062	T	0.54925	-0.8220	9	0.54805	T	0.06	.	7.0798	0.25225	0.0:0.2619:0.0:0.7381	.	1296	Q9Y2K3	MYH15_HUMAN	T	1296	ENSP00000273353:S1296T	ENSP00000273353:S1296T	S	-	2	0	MYH15	109622627	0.730000	0.28100	0.379000	0.26080	0.798000	0.45092	0.844000	0.27654	0.095000	0.17434	-0.150000	0.13652	AGT		0.463	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1		XM_036988		34	133	0	0	0	0.013726	0	34	133		
KIAA2018	205717	broad.mit.edu	37	3	113377710	113377710	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:113377710G>A	ENST00000478658.1	-	5	2836	c.2819C>T	c.(2818-2820)tCa>tTa	p.S940L	KIAA2018_ENST00000316407.4_Missense_Mutation_p.S940L|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	940						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TACATTGGCTGAAGCGCAGGG	0.418																																						uc003eam.2		NaN																	0				skin(2)|ovary(1)	3						c.(2818-2820)TCA>TTA		hypothetical protein LOC205717							212.0	192.0	199.0					3																	113377710		1914	4132	6046	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377710G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2819C>T	3.37:g.113377710G>A	ENSP00000420721:p.Ser940Leu					KIAA2018_uc003eal.2_Missense_Mutation_p.S884L	p.S940L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	3230	-			940					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.2819C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952962	0.53293	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15718	2.4;2.4	5.12	5.12	0.69794	.	0.410613	0.22262	N	0.062385	T	0.19005	0.0456	L	0.27053	0.805	0.52501	D	0.999956	P	0.52316	0.952	P	0.46585	0.521	T	0.01617	-1.1311	10	0.44086	T	0.13	-11.5614	18.5778	0.91161	0.0:0.0:1.0:0.0	.	940	Q68DE3	K2018_HUMAN	L	940	ENSP00000320794:S940L;ENSP00000420721:S940L	ENSP00000320794:S940L	S	-	2	0	KIAA2018	114860400	0.850000	0.29656	1.000000	0.80357	0.839000	0.47603	4.383000	0.59600	2.384000	0.81235	0.650000	0.86243	TCA		0.418	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899		127	123	0	0	0	0.01441	0	127	123		
DRD3	1814	broad.mit.edu	37	3	113850098	113850098	+	Silent	SNP	C	C	T	rs201118680	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:113850098C>T	ENST00000460779.1	-	7	1162	c.873G>A	c.(871-873)gcG>gcA	p.A291A	DRD3_ENST00000383673.2_Silent_p.A291A|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Silent_p.A291A	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	291					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGAGCTTGGGCGCTATGGTGG	0.542													c|||	2	0.000399361	0.0	0.0014	5008	,	,		18832	0.001		0.0	False		,,,				2504	0.0					uc003ebd.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(871-873)GCG>GCA		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	T	,	0,4406		0,0,2203	194.0	199.0	198.0		873,	-3.8	0.9	3		198	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron	DRD3	NM_000796.3,NM_033663.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	291/401,	113850098	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113850098C>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.873G>A	3.37:g.113850098C>T						DRD3_uc010hqn.1_Silent_p.A291A|DRD3_uc003ebb.1_Intron|DRD3_uc003ebc.1_Silent_p.A291A	p.A291A	NM_000796	NP_000787	P35462	DRD3_HUMAN			7	1296	-			291			Cytoplasmic.		A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.873G>A	CCDS2978.1																																																																																				0.542	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1		NM_000796.3		27	222	0	0	0	0.008361	0	27	222		
RABL3	285282	broad.mit.edu	37	3	120424963	120424963	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:120424963T>C	ENST00000273375.3	-	4	298		c.e4-2		RABL3_ENST00000483733.1_Splice_Site|RABL3_ENST00000491398.1_Splice_Site	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3						small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		AAATAATACCTAAAATAATCA	0.373																																						uc003edx.2		NaN																	0					0						c.e4-1		RAB, member of RAS oncogene family-like 3							61.0	63.0	62.0					3																	120424963		2203	4300	6503	SO:0001630	splice_region_variant	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120424963T>C	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.269-2A>G	3.37:g.120424963T>C							p.G90_splice	NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	4	299	-								Q8WUD3	Splice_Site	SNP	ENST00000273375.3	37	c.269_splice	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135921	0.77662	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9816	0.71316	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RABL3	121907653	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.585000	0.82584	2.138000	0.66242	0.533000	0.62120	.		0.373	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1		NM_173825	Intron	11	38	0	0	0	0.008291	0	11	38		
EAF2	55840	broad.mit.edu	37	3	121554153	121554153	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:121554153C>T	ENST00000273668.2	+	1	92	c.21C>T	c.(19-21)ttC>ttT	p.F7F	EAF2_ENST00000451944.2_Silent_p.F7F|EAF2_ENST00000465664.1_3'UTR|IQCB1_ENST00000349820.6_5'Flank|IQCB1_ENST00000310864.6_5'Flank	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	7					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CAGCGGGATTCTCACACCTAG	0.557																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	uc003een.2		NaN																	0					0						c.(19-21)TTC>TTT		ELL associated factor 2							68.0	67.0	68.0					3																	121554153		2203	4300	6503	SO:0001819	synonymous_variant	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121554153C>T	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.21C>T	3.37:g.121554153C>T						IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|IQCB1_uc010hrf.1_5'Flank|EAF2_uc003eem.2_RNA|EAF2_uc003eeo.2_5'UTR	p.F7F	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	1	120	+			7					Q9NZ82	Silent	SNP	ENST00000273668.2	37	c.21C>T	CCDS3006.1																																																																																				0.557	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1		NM_018456		12	16	0	0	0	0.004007	0	12	16		
SEMA5B	54437	broad.mit.edu	37	3	122658317	122658317	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:122658317C>T	ENST00000357599.3	-	5	815	c.429G>A	c.(427-429)agG>agA	p.R143R	SEMA5B_ENST00000195173.4_Splice_Site_p.R143R|SEMA5B_ENST00000451055.2_Splice_Site_p.R197R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	143	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGAGGTAGTTCCTGTGAAAAT	0.537																																						uc003efz.1		NaN																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(427-429)AGG>AGA		semaphorin 5B isoform 1							165.0	130.0	142.0					3																	122658317		2203	4300	6503	SO:0001630	splice_region_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122658317C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.429-1G>A	3.37:g.122658317C>T						SEMA5B_uc011bju.1_Silent_p.R85R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.R143R|SEMA5B_uc010hro.1_Silent_p.R85R|SEMA5B_uc010hrp.1_RNA	p.R143R	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	5	733	-			143			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.429G>A	CCDS35491.1																																																																																				0.537	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1		NM_001031702	Silent	7	36	0	0	0	0.001984	0	7	36		
ROPN1	54763	broad.mit.edu	37	3	123699230	123699230	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:123699230G>A	ENST00000184183.4	-	3	439	c.99C>T	c.(97-99)ctC>ctT	p.L33L	ROPN1_ENST00000405845.3_Silent_p.L33L|ROPN1_ENST00000459660.1_Silent_p.L33L|ROPN1_ENST00000484329.1_Silent_p.L33L|ROPN1_ENST00000479867.1_Silent_p.L33L|ROPN1_ENST00000495093.1_Silent_p.L33L	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	33	RIIa.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		CCCACTGGATGAGGTCCTGCG	0.597																																						uc003eha.2		NaN																	0				ovary(1)|skin(1)	2						c.(97-99)CTC>CTT		ropporin							79.0	78.0	78.0					3																	123699230		2203	4300	6503	SO:0001819	synonymous_variant	54763				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr3:123699230G>A	AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"""cancer/testis antigen 91"""	611757	"""ropporin, rhophilin associated protein 1"""			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.99C>T	3.37:g.123699230G>A						ROPN1_uc003ehb.1_RNA|ROPN1_uc003ehc.1_RNA	p.L33L	NM_017578	NP_060048	Q9HAT0	ROP1A_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	3	440	-			33			RIIa.		D3DN99|Q9UF38	Silent	SNP	ENST00000184183.4	37	c.99C>T	CCDS3026.1																																																																																				0.597	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2		NM_017578		11	25	0	0	0	0.003954	0	11	25		
KLF15	28999	broad.mit.edu	37	3	126071555	126071555	+	Missense_Mutation	SNP	C	C	T	rs367830984		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:126071555C>T	ENST00000296233.3	-	2	441	c.211G>A	c.(211-213)Gag>Aag	p.E71K	KLF15_ENST00000509675.1_5'UTR	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	71					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TCCTGGCTCTCGGTGCCCAGG	0.652																																						uc011bkk.1		NaN																	0				lung(1)	1						c.(211-213)GAG>AAG		Kruppel-like factor 15		C	LYS/GLU	1,4389		0,1,2194	13.0	12.0	12.0		211	1.0	0.2	3		12	0,8576		0,0,4288	no	missense	KLF15	NM_014079.3	56	0,1,6482	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	71/417	126071555	1,12965	2195	4288	6483	SO:0001583	missense	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126071555C>T	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.211G>A	3.37:g.126071555C>T	ENSP00000296233:p.Glu71Lys						p.E71K	NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	393	-			71						Missense_Mutation	SNP	ENST00000296233.3	37	c.211G>A	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330469	0.24167	2.28E-4	0.0	ENSG00000163884	ENST00000296233	T	0.10099	2.91	4.08	0.958	0.19619	.	0.099263	0.64402	N	0.000002	T	0.11110	0.0271	M	0.61703	1.905	0.51233	D	0.999912	B	0.19817	0.039	B	0.15870	0.014	T	0.07195	-1.0785	10	0.62326	D	0.03	.	7.5018	0.27522	0.0:0.6487:0.0:0.3513	.	71	Q9UIH9	KLF15_HUMAN	K	71	ENSP00000296233:E71K	ENSP00000296233:E71K	E	-	1	0	KLF15	127554245	0.999000	0.42202	0.163000	0.22734	0.576000	0.36127	3.941000	0.56607	0.068000	0.16574	-0.216000	0.12614	GAG		0.652	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1		NM_014079		3	2	0	0	0	0.004672	0	3	2		
CHCHD6	84303	broad.mit.edu	37	3	126676358	126676358	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:126676358C>T	ENST00000290913.3	+	7	759	c.666C>T	c.(664-666)gtC>gtT	p.V222V	CHCHD6_ENST00000508789.1_Silent_p.V223V	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	222	CHCH.				cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(3)|lung(3)	8						CGGACCTGGTCAAGGCATACC	0.647																																						uc003ejf.1		NaN																	0					0						c.(664-666)GTC>GTT		coiled-coil-helix-coiled-coil-helix domain							44.0	32.0	36.0					3																	126676358		2199	4299	6498	SO:0001819	synonymous_variant	84303							g.chr3:126676358C>T	BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28184	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 23"", ""coiled-coil-helix cristae morphology 1"""	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.666C>T	3.37:g.126676358C>T						CHCHD6_uc010hsj.1_Silent_p.V223V	p.V222V	NM_032343	NP_115719	Q9BRQ6	CHCH6_HUMAN			7	704	+			222			CHCH.		D6R9U0|D6RIB4|H8Y0Y7	Silent	SNP	ENST00000290913.3	37	c.666C>T	CCDS3041.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287857	0.23478	.	.	ENSG00000159685	ENST00000513253	.	.	.	4.22	3.33	0.38152	.	.	.	.	.	T	0.54679	0.1873	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48340	-0.9044	4	.	.	.	-5.9645	5.9945	0.19487	0.0:0.6974:0.1962:0.1064	.	.	.	.	L	153	.	.	S	+	2	0	CHCHD6	128159048	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.785000	0.26830	0.757000	0.33036	0.467000	0.42956	TCA		0.647	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356432.1		NM_032343		6	4	0	0	0	0.001168	0	6	4		
PLXND1	23129	broad.mit.edu	37	3	129293326	129293326	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:129293326G>A	ENST00000324093.4	-	12	2716	c.2538C>T	c.(2536-2538)gtC>gtT	p.V846V	PLXND1_ENST00000393239.1_Silent_p.V846V	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	846					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CACAGTTATAGACCATGACTG	0.652																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NaN																	0				large_intestine(1)	1						c.(2536-2538)GTC>GTT		plexin D1 precursor							28.0	28.0	28.0					3																	129293326		2203	4299	6502	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129293326G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2538C>T	3.37:g.129293326G>A							p.V846V	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			12	2638	-			846			Extracellular (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.2538C>T	CCDS33854.1																																																																																				0.652	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		NM_015103		9	21	0	0	0	0.004482	0	9	21		
ACPP	55	broad.mit.edu	37	3	132071660	132071660	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:132071660G>A	ENST00000336375.5	+	9	1051	c.961G>A	c.(961-963)Gag>Aag	p.E321K	ACPP_ENST00000475741.1_Missense_Mutation_p.E288K|ACPP_ENST00000351273.7_Missense_Mutation_p.E321K	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	321					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ATTGTACTTTGAGAAGGGGTA	0.433																																						uc010htp.2		NaN																	0				ovary(1)	1						c.(961-963)GAG>AAG		acid phosphatase, prostate short isoform							128.0	118.0	121.0					3																	132071660		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132071660G>A		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.961G>A	3.37:g.132071660G>A	ENSP00000337471:p.Glu321Lys					ACPP_uc003eon.3_Missense_Mutation_p.E288K|ACPP_uc003eop.3_Missense_Mutation_p.E321K	p.E321K	NM_001099	NP_001090	P15309	PPAP_HUMAN			9	1051	+			321					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.961G>A	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978608	0.74360	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.16457	2.34;2.34;2.34	5.83	4.01	0.46588	.	0.710576	0.13770	N	0.363936	T	0.26774	0.0655	L	0.37561	1.115	0.09310	N	0.999998	P;P;P	0.52692	0.913;0.894;0.955	B;B;P	0.54544	0.316;0.211;0.755	T	0.09618	-1.0666	10	0.59425	D	0.04	.	14.4811	0.67582	0.0:0.2805:0.7195:0.0	.	321;321;288	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	K	321;288;321	ENSP00000337471:E321K;ENSP00000417744:E288K;ENSP00000323036:E321K	ENSP00000337471:E321K	E	+	1	0	ACPP	133554350	0.992000	0.36948	0.007000	0.13788	0.108000	0.19459	3.202000	0.51067	0.778000	0.33520	0.563000	0.77884	GAG		0.433	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2		NM_001099		17	94	0	0	0	0.00499	0	17	94		
DNAJC13	23317	broad.mit.edu	37	3	132169512	132169512	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:132169512C>T	ENST00000260818.6	+	6	606	c.358C>T	c.(358-360)Cac>Tac	p.H120Y	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	120					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CTATAAGCATCACTGGAGTGA	0.328																																						uc003eor.2		NaN																	0				ovary(1)|breast(1)	2						c.(358-360)CAC>TAC		DnaJ (Hsp40) homolog, subfamily C, member 13							50.0	53.0	52.0					3																	132169512		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132169512C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.358C>T	3.37:g.132169512C>T	ENSP00000260818:p.His120Tyr					DNAJC13_uc010htq.1_Missense_Mutation_p.H120Y	p.H120Y	NM_015268	NP_056083	O75165	DJC13_HUMAN			6	423	+			120					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.358C>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777140	0.90195	.	.	ENSG00000138246	ENST00000260818	T	0.19105	2.17	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	M	0.82056	2.57	0.80722	D	1	D;P	0.56968	0.978;0.851	P;P	0.58391	0.759;0.838	T	0.48139	-0.9061	10	0.66056	D	0.02	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	120;120	A7E2Y5;O75165	.;DJC13_HUMAN	Y	120	ENSP00000260818:H120Y	ENSP00000260818:H120Y	H	+	1	0	DNAJC13	133652202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.601000	0.82783	2.734000	0.93682	0.655000	0.94253	CAC		0.328	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2		NM_015268		60	41	0	0	0	0.01441	0	60	41		
CEP70	80321	broad.mit.edu	37	3	138256169	138256169	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:138256169C>T	ENST00000264982.3	-	7	752	c.486G>A	c.(484-486)aaG>aaA	p.K162K	CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000542237.1_Silent_p.K142K|CEP70_ENST00000481834.1_Silent_p.K162K|CEP70_ENST00000489254.1_Silent_p.K10K|CEP70_ENST00000484888.1_Silent_p.K162K|CEP70_ENST00000464035.1_Silent_p.K162K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	162					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTCGTTTTTTCTTATAATGCT	0.343																																						uc003esl.2		NaN																	0				skin(1)	1						c.(484-486)AAG>AAA		centrosomal protein 70 kDa							93.0	85.0	88.0					3																	138256169		2203	4300	6503	SO:0001819	synonymous_variant	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138256169C>T	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.486G>A	3.37:g.138256169C>T						CEP70_uc011bmk.1_Silent_p.K142K|CEP70_uc011bml.1_Silent_p.K144K|CEP70_uc011bmm.1_Silent_p.K10K|CEP70_uc003esm.2_Silent_p.K162K|CEP70_uc003esn.2_Silent_p.K162K	p.K162K	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN			7	684	-			162			Potential.		B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Silent	SNP	ENST00000264982.3	37	c.486G>A	CCDS3102.1																																																																																				0.343	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1		NM_024491		11	41	0	0	0	0.010729	0	11	41		
FOXL2	668	broad.mit.edu	37	3	138665349	138665349	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:138665349C>T	ENST00000330315.3	-	1	633	c.216G>A	c.(214-216)gaG>gaA	p.E72E	C3orf72_ENST00000383165.3_5'Flank|RP11-548O1.3_ENST00000495287.1_lincRNA	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	72					apoptotic DNA fragmentation (GO:0006309)|cell differentiation (GO:0030154)|embryonic eye morphogenesis (GO:0048048)|extraocular skeletal muscle development (GO:0002074)|female somatic sex determination (GO:0019101)|granulosa cell differentiation (GO:0060014)|menstruation (GO:0042703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin conjugating enzyme binding (GO:0031624)			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						TGAGCCTCTTCTCCGCGCTCT	0.632			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""																															uc003esw.2		NaN		Dom	yes		3	3q23	668	Mis	forkhead box L2	yes	Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III	O			granulosa-cell tumour of the ovary		0				ovary(266)|large_intestine(1)|skin(1)	268	GRCh37	CD025236	FOXL2	D		c.(214-216)GAG>GAA		forkhead box L2							53.0	59.0	57.0					3																	138665349		2203	4300	6503	SO:0001819	synonymous_variant	668				convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr3:138665349C>T	AF301906	CCDS3105.1	3q23	2008-04-10			ENSG00000183770	ENSG00000183770		"""Forkhead boxes"""	1092	protein-coding gene	gene with protein product		605597		BPES		1941972	Standard	NM_023067		Approved	BPES1	uc003esw.3	P58012	OTTHUMG00000159889	ENST00000330315.3:c.216G>A	3.37:g.138665349C>T						uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	p.E72E	NM_023067	NP_075555	P58012	FOXL2_HUMAN			1	634	-			72			Fork-head.		Q4ZGJ3	Silent	SNP	ENST00000330315.3	37	c.216G>A	CCDS3105.1																																																																																				0.632	FOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357999.1				21	27	0	0	0	0.012319	0	21	27		
RBP1	5947	broad.mit.edu	37	3	139258348	139258348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:139258348C>T	ENST00000483943.2	-	1	213	c.213G>A	c.(211-213)tgG>tgA	p.W71*	RBP1_ENST00000232219.2_Nonsense_Mutation_p.W71*|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|RBP1_ENST00000492918.1_Nonsense_Mutation_p.W71*	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	9					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	CCAACATCTTCCAGTACCCAG	0.682																																						uc003eti.2		NaN																	0					0						c.(211-213)TGG>TGA		retinol binding protein 1, cellular isoform a	Vitamin A(DB00162)						42.0	31.0	35.0					3																	139258348		2203	4300	6503	SO:0001587	stop_gained	5947					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr3:139258348C>T		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"""Fatty acid binding protein family"""	9919	protein-coding gene	gene with protein product		180260	"""retinol-binding protein 1, cellular"""			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.213G>A	3.37:g.139258348C>T	ENSP00000424813:p.Trp71*					RBP1_uc011bmx.1_Nonsense_Mutation_p.W71*|RBP1_uc010huj.2_RNA|RBP1_uc011bmy.1_Nonsense_Mutation_p.W71*	p.W71*	NM_002899	NP_002890	P09455	RET1_HUMAN			1	324	-			9					A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Nonsense_Mutation	SNP	ENST00000483943.2	37	c.213G>A	CCDS46925.1	.	.	.	.	.	.	.	.	.	.	C	39	7.695015	0.98438	.	.	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9012	0.88904	0.0:1.0:0.0:0.0	.	.	.	.	X	71	.	ENSP00000232219:W71X	W	-	3	0	RBP1	140741038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.795000	0.75140	2.470000	0.83445	0.655000	0.94253	TGG		0.682	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2		NM_002899		6	10	0	0	0	0.001984	0	6	10		
PXYLP1	92370	broad.mit.edu	37	3	141006166	141006166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:141006166C>T	ENST00000286353.4	+	5	513	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	ACPL2_ENST00000504264.1_Missense_Mutation_p.H109Y|ACPL2_ENST00000508812.1_Missense_Mutation_p.H117Y|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Missense_Mutation_p.H88Y|ACPL2_ENST00000393007.1_Missense_Mutation_p.H110Y|ACPL2_ENST00000393010.2_Missense_Mutation_p.H126Y	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		126						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GAAACCGTATCACCCAAAACT	0.463																																						uc003etu.2		NaN																	0				skin(1)	1						c.(376-378)CAC>TAC		acid phosphatase-like 2 precursor							151.0	158.0	156.0					3																	141006166		2203	4300	6503	SO:0001583	missense	92370					extracellular region	acid phosphatase activity	g.chr3:141006166C>T																												ENST00000286353.4:c.376C>T	3.37:g.141006166C>T	ENSP00000286353:p.His126Tyr					ACPL2_uc003etv.2_Missense_Mutation_p.H126Y|ACPL2_uc011bna.1_Missense_Mutation_p.H88Y|ACPL2_uc011bnb.1_Missense_Mutation_p.H109Y	p.H126Y	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN			7	675	+			126					D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	c.376C>T	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937946	0.34189	.	.	ENSG00000155893	ENST00000505013;ENST00000286353;ENST00000502783;ENST00000393010;ENST00000512457;ENST00000504264;ENST00000508812;ENST00000393007	T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.76071	0.973;0.987	T	0.78645	-0.2123	10	0.02654	T	1	.	17.2567	0.87059	0.0:1.0:0.0:0.0	.	109;126	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	Y	126;126;88;126;88;109;117;110	ENSP00000421271:H126Y;ENSP00000286353:H126Y;ENSP00000422558:H88Y;ENSP00000376733:H126Y;ENSP00000423702:H88Y;ENSP00000426877:H109Y;ENSP00000422901:H117Y;ENSP00000376731:H110Y	ENSP00000286353:H126Y	H	+	1	0	ACPL2	142488856	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.744000	0.85034	2.666000	0.90696	0.561000	0.74099	CAC		0.463	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2				36	119	0	0	0	0.004289	0	36	119		
GRK7	131890	broad.mit.edu	37	3	141526645	141526645	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:141526645G>A	ENST00000264952.2	+	3	1346	c.1209G>A	c.(1207-1209)ctG>ctA	p.L403L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	403	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AAGAGGATCTGAAGCAAAGAA	0.433																																						uc011bnd.1		NaN																	0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1207-1209)CTG>CTA		G-protein-coupled receptor kinase 7 precursor							109.0	100.0	103.0					3																	141526645		2203	4300	6503	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141526645G>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1209G>A	3.37:g.141526645G>A							p.L403L	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			3	1293	+			403			Protein kinase.			Silent	SNP	ENST00000264952.2	37	c.1209G>A	CCDS3120.1																																																																																				0.433	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1		NM_139209		10	80	0	0	0	0.008291	0	10	80		
ATP1B3	483	broad.mit.edu	37	3	141626055	141626055	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:141626055C>T	ENST00000286371.3	+	3	473	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ATP1B3_ENST00000539728.1_Silent_p.F81F|ATP1B3_ENST00000462082.1_Intron	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	95					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)			cervix(1)|endometrium(1)|lung(2)	4						AATATACATTCAGTAGGTCTG	0.363																																						uc003eug.1		NaN																	0					0						c.(283-285)TTC>TTT		Na+/K+ -ATPase beta 3 subunit							90.0	90.0	90.0					3																	141626055		2203	4300	6503	SO:0001819	synonymous_variant	483				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr3:141626055C>T	BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"""CD molecules"", ""ATPases / P-type"""	806	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-3"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"""	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.285C>T	3.37:g.141626055C>T						ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Silent_p.F81F	p.F95F	NM_001679	NP_001670	P54709	AT1B3_HUMAN			3	459	+			95			Extracellular (Potential).		B7Z1N7	Silent	SNP	ENST00000286371.3	37	c.285C>T	CCDS3121.1																																																																																				0.363	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353218.1		NM_001679		28	84	0	0	0	0.00632	0	28	84		
TRPC1	7220	broad.mit.edu	37	3	142509894	142509894	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:142509894A>G	ENST00000476941.1	+	8	1817	c.1331A>G	c.(1330-1332)tAt>tGt	p.Y444C	TRPC1_ENST00000273482.6_Missense_Mutation_p.Y410C	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	444					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AGACTCTGGTATGAAGGGTTG	0.328																																						uc003evc.2		NaN																	0				ovary(2)	2						c.(1330-1332)TAT>TGT		transient receptor potential cation channel,							119.0	127.0	125.0					3																	142509894		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142509894A>G	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1331A>G	3.37:g.142509894A>G	ENSP00000419313:p.Tyr444Cys					TRPC1_uc003evb.2_Missense_Mutation_p.Y410C|TRPC1_uc011bni.1_Missense_Mutation_p.Y11C	p.Y444C	NM_003304	NP_003295	P48995	TRPC1_HUMAN			8	1467	+			444			Cytoplasmic (Potential).		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.1331A>G	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190064	0.78789	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98437	-4.93;-4.93	5.33	5.33	0.75918	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98302	0.9437	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.987	D;D;D	0.73380	0.98;0.98;0.916	D	0.98900	1.0776	10	0.45353	T	0.12	-19.6893	15.3008	0.73949	1.0:0.0:0.0:0.0	.	410;444;410	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	C	444;410;11	ENSP00000419313:Y444C;ENSP00000273482:Y410C	ENSP00000273482:Y410C	Y	+	2	0	TRPC1	143992584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.730000	0.91510	2.007000	0.58848	0.454000	0.30748	TAT		0.328	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1		NM_003304		18	68	0	0	0	0.008871	0	18	68		
PLSCR5	389158	broad.mit.edu	37	3	146311816	146311816	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:146311816G>C	ENST00000443512.1	-	4	1347	c.344C>G	c.(343-345)aCt>aGt	p.T115S	PLSCR5_ENST00000482567.1_Missense_Mutation_p.T103S|PLSCR5_ENST00000492200.1_Missense_Mutation_p.T115S	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	115										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AGATCGCAGAGTGGAACAGAA	0.458																																						uc003ewb.2		NaN																	0					0						c.(343-345)ACT>AGT		phospholipid scramblase family, member 5							145.0	142.0	143.0					3																	146311816		1934	4143	6077	SO:0001583	missense	389158							g.chr3:146311816G>C	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.344C>G	3.37:g.146311816G>C	ENSP00000390111:p.Thr115Ser					PLSCR5_uc010hvb.2_Missense_Mutation_p.T103S|PLSCR5_uc010hvc.2_Missense_Mutation_p.T115S	p.T115S	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN			4	1348	-			115					B2RXK5	Missense_Mutation	SNP	ENST00000443512.1	37	c.344C>G	CCDS46931.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120340	0.56613	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.22945	1.93;1.93;1.93	5.69	5.69	0.88448	Tubby, C-terminal (1);	.	.	.	.	T	0.13030	0.0316	N	0.01649	-0.78	0.24696	N	0.993286	B;B	0.10296	0.001;0.003	B;B	0.15052	0.008;0.012	T	0.21075	-1.0256	9	0.22706	T	0.39	-8.7685	19.8215	0.96599	0.0:0.0:1.0:0.0	.	103;115	B2RXK5;A0PG75	.;PLS5_HUMAN	S	115;103;115	ENSP00000417184:T115S;ENSP00000418626:T103S;ENSP00000390111:T115S	ENSP00000390111:T115S	T	-	2	0	PLSCR5	147794506	1.000000	0.71417	0.454000	0.27019	0.978000	0.69477	9.476000	0.97823	2.679000	0.91253	0.650000	0.86243	ACT		0.458	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1		XM_371670		40	135	0	0	0	0.00623	0	40	135		
RNF13	11342	broad.mit.edu	37	3	149678727	149678727	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:149678727G>A	ENST00000344229.3	+	11	1684	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	RNF13_ENST00000392894.3_Missense_Mutation_p.E328K|RNF13_ENST00000361785.6_Missense_Mutation_p.E209K	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	328					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGCTTTATCGGAATCCCGCTC	0.413																																						uc003exn.3		NaN																	0				ovary(1)	1						c.(982-984)GAA>AAA		ring finger protein 13							92.0	81.0	85.0					3																	149678727		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149678727G>A	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.982G>A	3.37:g.149678727G>A	ENSP00000341361:p.Glu328Lys					RNF13_uc003exp.3_Missense_Mutation_p.E328K|RNF13_uc010hvh.2_Missense_Mutation_p.E209K	p.E328K	NM_007282	NP_009213	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		11	1766	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	328			Cytoplasmic (Potential).		A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.982G>A	CCDS3146.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.21|18.21	3.572636|3.572636	0.65765|0.65765	.|.	.|.	ENSG00000082996|ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000491086;ENST00000361785;ENST00000482083|ENST00000468289	T;T;T;T;T|.	0.12361|.	3.7;3.7;2.74;2.69;2.74|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.217994|.	0.49305|.	D|.	0.000157|.	T|T	0.58104|0.58104	0.2099|0.2099	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.40875|.	0.731;0.651|.	B;B|.	0.39590|.	0.304;0.115|.	T|T	0.50816|0.50816	-0.8783|-0.8783	10|5	0.20519|.	T|.	0.43|.	-28.4985|-28.4985	19.8176|19.8176	0.96576|0.96576	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	209;328|.	B3KR12;O43567|.	.;RNF13_HUMAN|.	K|E	328;328;209;209;209|129	ENSP00000376628:E328K;ENSP00000341361:E328K;ENSP00000420667:E209K;ENSP00000355268:E209K;ENSP00000418863:E209K|.	ENSP00000341361:E328K|.	E|G	+|+	1|2	0|0	RNF13|RNF13	151161417|151161417	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.762000|0.762000	0.43233|0.43233	6.307000|6.307000	0.72815|0.72815	2.765000|2.765000	0.95021|0.95021	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.413	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1		NM_183384		23	59	0	0	0	0.012319	0	23	59		
RAP2B	5912	broad.mit.edu	37	3	152880887	152880887	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:152880887T>C	ENST00000323534.2	+	1	859	c.405T>C	c.(403-405)gcT>gcC	p.A135A	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	135					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGCCCTGGCTGAGGAGTGGA	0.632																																						uc003ezr.2		NaN																	0				lung(2)	2						c.(403-405)GCT>GCC		RAP2B, member of RAS oncogene family precursor							56.0	45.0	49.0					3																	152880887		2203	4300	6503	SO:0001819	synonymous_variant	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880887T>C		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.405T>C	3.37:g.152880887T>C							p.A135A	NM_002886	NP_002877	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	859	+			135					P17964|Q96EG5|Q9CXG0	Silent	SNP	ENST00000323534.2	37	c.405T>C	CCDS3170.1																																																																																				0.632	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1		NM_002886		13	20	0	0	0	0.003163	0	13	20		
MME	4311	broad.mit.edu	37	3	154886393	154886393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:154886393G>A	ENST00000460393.1	+	19	2013	c.1893G>A	c.(1891-1893)tgG>tgA	p.W631*	MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Nonsense_Mutation_p.W631*|MME_ENST00000360490.2_Nonsense_Mutation_p.W631*|MME_ENST00000492661.1_Nonsense_Mutation_p.W631*|MME_ENST00000462745.1_Nonsense_Mutation_p.W631*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	631					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ACTTTTCCTGGGACCTGGCAG	0.408																																						uc010hvr.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1891-1893)TGG>TGA		membrane metallo-endopeptidase	Candoxatril(DB00616)						144.0	135.0	138.0					3																	154886393		2203	4300	6503	SO:0001587	stop_gained	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154886393G>A		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1893G>A	3.37:g.154886393G>A	ENSP00000418525:p.Trp631*					MME_uc003fab.1_Nonsense_Mutation_p.W631*|MME_uc003fac.1_Nonsense_Mutation_p.W631*|MME_uc003fad.1_Nonsense_Mutation_p.W631*|MME_uc003fae.1_Nonsense_Mutation_p.W631*	p.W631*	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		19	2104	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	631			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Nonsense_Mutation	SNP	ENST00000460393.1	37	c.1893G>A	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	38	7.046311	0.98025	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	.	.	.	5.25	5.25	0.73442	.	0.130343	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1539	18.8727	0.92322	0.0:0.0:1.0:0.0	.	.	.	.	X	631	.	ENSP00000353679:W631X	W	+	3	0	MME	156369087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.822000	0.86651	2.455000	0.83008	0.650000	0.86243	TGG		0.408	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1		NM_000902		28	107	0	0	0	0.00632	0	28	107		
SLC33A1	9197	broad.mit.edu	37	3	155571662	155571662	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:155571662G>A	ENST00000392845.3	-	1	505	c.125C>T	c.(124-126)tCa>tTa	p.S42L	SLC33A1_ENST00000359479.3_Missense_Mutation_p.S42L|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	42					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCGGCCCGCTGAGTCCAAATG	0.602																																						uc003fan.3		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(124-126)TCA>TTA		acetyl-coenzyme A transporter							35.0	38.0	37.0					3																	155571662		2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571662G>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.125C>T	3.37:g.155571662G>A	ENSP00000376587:p.Ser42Leu					SLC33A1_uc003fao.1_Missense_Mutation_p.S42L	p.S42L	NM_004733	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	506	-			42			Cytoplasmic (Potential).		B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.125C>T	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387455	0.25031	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.71698	-0.59;-0.59	4.93	-3.8	0.04307	Major facilitator superfamily domain, general substrate transporter (1);	2.307520	0.01541	N	0.019228	T	0.55545	0.1927	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42699	-0.9436	10	0.26408	T	0.33	1.6541	11.44	0.50092	0.1419:0.1244:0.7336:0.0	.	42	O00400	ACATN_HUMAN	L	42	ENSP00000376587:S42L;ENSP00000352456:S42L	ENSP00000352456:S42L	S	-	2	0	SLC33A1	157054356	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.124000	0.10595	-0.449000	0.07117	-0.355000	0.07637	TCA		0.602	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3		NM_004733		11	47	0	0	0	0.013537	0	11	47		
ARL14	80117	broad.mit.edu	37	3	160395402	160395402	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:160395402G>A	ENST00000320767.2	+	1	455	c.268G>A	c.(268-270)Gac>Aac	p.D90N		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	90					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			GTATGTTGTGGACAGTACAGA	0.433																																						uc003fdq.2		NaN																	0					0						c.(268-270)GAC>AAC		ADP-ribosylation factor-like 14							148.0	135.0	139.0					3																	160395402		2203	4300	6503	SO:0001583	missense	80117				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr3:160395402G>A	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22974	protein-coding gene	gene with protein product		614439	"""ADP-ribosylation factor 7"""	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.268G>A	3.37:g.160395402G>A	ENSP00000323847:p.Asp90Asn						p.D90N	NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		1	455	+			90					Q9H655	Missense_Mutation	SNP	ENST00000320767.2	37	c.268G>A	CCDS3192.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295063	0.95574	.	.	ENSG00000179674	ENST00000320767	T	0.79653	-1.29	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95940	0.8946	10	0.87932	D	0	-26.2915	19.3683	0.94473	0.0:0.0:1.0:0.0	.	90	Q8N4G2	ARL14_HUMAN	N	90	ENSP00000323847:D90N	ENSP00000323847:D90N	D	+	1	0	ARL14	161878096	1.000000	0.71417	0.999000	0.59377	0.782000	0.44232	9.731000	0.98807	2.822000	0.97130	0.563000	0.77884	GAC		0.433	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1		NM_025047		12	82	0	0	0	0.001855	0	12	82		
BCHE	590	broad.mit.edu	37	3	165548500	165548500	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:165548500C>G	ENST00000264381.3	-	2	488	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	108					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTCCACATCTCTGATCCATGG	0.393																																						uc003fem.3		NaN																	0				ovary(3)|pancreas(1)	4						c.(322-324)GAG>CAG		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						90.0	96.0	94.0					3																	165548500		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548500C>G	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.322G>C	3.37:g.165548500C>G	ENSP00000264381:p.Glu108Gln					BCHE_uc003fen.3_Intron	p.E108Q	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	482	-			108					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.322G>C	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209457	0.39003	.	.	ENSG00000114200	ENST00000264381	T	0.69306	-0.39	5.84	5.84	0.93424	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.70815	0.3267	M	0.76002	2.32	0.80722	D	1	B	0.31383	0.321	B	0.34093	0.175	T	0.69932	-0.5011	10	0.48119	T	0.1	.	19.1188	0.93353	0.0:1.0:0.0:0.0	.	108	P06276	CHLE_HUMAN	Q	108	ENSP00000264381:E108Q	ENSP00000264381:E108Q	E	-	1	0	BCHE	167031194	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	7.687000	0.84139	2.751000	0.94390	0.655000	0.94253	GAG		0.393	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1				64	41	0	0	0	0.01441	0	64	41		
ZBBX	79740	broad.mit.edu	37	3	167045793	167045793	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:167045793T>A	ENST00000392766.2	-	11	1139	c.799A>T	c.(799-801)Agt>Tgt	p.S267C	ZBBX_ENST00000392764.1_Missense_Mutation_p.S238C|ZBBX_ENST00000307529.5_Missense_Mutation_p.S267C|ZBBX_ENST00000392767.2_Missense_Mutation_p.S267C|ZBBX_ENST00000455345.2_Missense_Mutation_p.S267C|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	267						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTCCATTGACTTAACACTTCC	0.373																																						uc003fep.2		NaN																	0				ovary(2)	2						c.(799-801)AGT>TGT		zinc finger, B-box domain containing							218.0	203.0	207.0					3																	167045793		1884	4115	5999	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167045793T>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.799A>T	3.37:g.167045793T>A	ENSP00000376519:p.Ser267Cys					ZBBX_uc011bpc.1_Missense_Mutation_p.S267C|ZBBX_uc003feq.2_Missense_Mutation_p.S238C	p.S267C	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			11	1122	-			267					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.799A>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	11.75	1.730662	0.30684	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.10573	3.03;3.03;3.03;3.03;2.86	5.57	-2.08	0.07254	.	1.111380	0.07344	U	0.881284	T	0.07773	0.0195	L	0.36672	1.1	0.09310	N	1	P;P	0.44816	0.844;0.758	B;B	0.39379	0.298;0.156	T	0.28933	-1.0028	10	0.66056	D	0.02	0.0053	3.3044	0.06994	0.1375:0.0811:0.426:0.3554	.	267;267	A8MT70-2;A8MT70	.;ZBBX_HUMAN	C	267;267;267;267;238	ENSP00000376519:S267C;ENSP00000376520:S267C;ENSP00000390232:S267C;ENSP00000305065:S267C;ENSP00000376517:S238C	ENSP00000305065:S267C	S	-	1	0	ZBBX	168528487	0.820000	0.29190	0.001000	0.08648	0.009000	0.06853	0.310000	0.19356	-0.208000	0.10171	0.455000	0.32223	AGT		0.373	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3		NM_024687		49	178	0	0	0	0.01441	0	49	178		
SLC2A2	6514	broad.mit.edu	37	3	170725017	170725017	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:170725017C>T	ENST00000314251.3	-	5	611	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	SLC2A2_ENST00000382808.4_Missense_Mutation_p.E59K	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	178					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	GGAGCAATTTCACCGATATAC	0.428																																						uc003fhe.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(532-534)GAA>AAA		solute carrier family 2 (facilitated glucose							82.0	75.0	78.0					3																	170725017		2203	4299	6502	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170725017C>T	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.532G>A	3.37:g.170725017C>T	ENSP00000323568:p.Glu178Lys					SLC2A2_uc003fhf.1_Missense_Mutation_p.E5K|SLC2A2_uc011bpu.1_Missense_Mutation_p.E51K	p.E178K	NM_000340	NP_000331	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		5	841	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		178			Helical; Name=4; (Potential).		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.532G>A	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546317	0.96488	.	.	ENSG00000163581	ENST00000314251;ENST00000382808;ENST00000461867	D;D;D	0.85955	-2.05;-2.05;-2.05	5.73	5.73	0.89815	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96309	0.8796	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97526	1.0076	10	0.87932	D	0	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	178	P11168	GTR2_HUMAN	K	178;59;5	ENSP00000323568:E178K;ENSP00000372258:E59K;ENSP00000418888:E5K	ENSP00000323568:E178K	E	-	1	0	SLC2A2	172207711	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.396000	0.79891	2.854000	0.98071	0.655000	0.94253	GAA		0.428	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1		NM_000340		30	28	0	0	0	0.008361	0	30	28		
TNIK	23043	broad.mit.edu	37	3	170786662	170786662	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:170786662G>A	ENST00000436636.2	-	30	4018	c.3674C>T	c.(3673-3675)tCt>tTt	p.S1225F	TNIK_ENST00000538048.1_Missense_Mutation_p.S1177F|TNIK_ENST00000488470.1_Missense_Mutation_p.S1170F|TNIK_ENST00000475336.1_Missense_Mutation_p.S1133F|TNIK_ENST00000460047.1_Missense_Mutation_p.S1162F|TNIK_ENST00000284483.8_Missense_Mutation_p.S1217F|TNIK_ENST00000369326.5_Missense_Mutation_p.S1203F|TNIK_ENST00000357327.5_Missense_Mutation_p.S1196F|TNIK_ENST00000470834.1_Missense_Mutation_p.S1188F|TNIK_ENST00000341852.6_Missense_Mutation_p.S1141F	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1225	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GATATCATAAGAGTTTCCTGA	0.378																																						uc003fhh.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(3673-3675)TCT>TTT		TRAF2 and NCK interacting kinase isoform 1							93.0	89.0	90.0					3																	170786662		1860	4102	5962	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170786662G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3674C>T	3.37:g.170786662G>A	ENSP00000399511:p.Ser1225Phe					TNIK_uc003fhi.2_Missense_Mutation_p.S1170F|TNIK_uc003fhj.2_Missense_Mutation_p.S1196F|TNIK_uc003fhk.2_Missense_Mutation_p.S1217F|TNIK_uc003fhl.2_Missense_Mutation_p.S1141F|TNIK_uc003fhm.2_Missense_Mutation_p.S1162F|TNIK_uc003fhn.2_Missense_Mutation_p.S1188F|TNIK_uc003fho.2_Missense_Mutation_p.S1133F|TNIK_uc003fhg.2_Missense_Mutation_p.S403F|TNIK_uc003fhp.2_Missense_Mutation_p.S157F	p.S1225F	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		30	4019	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1225			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3674C>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615350	0.87359	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48	6.06	6.06	0.98353	Citron-like (3);	0.051954	0.85682	D	0.000000	T	0.15652	0.0377	N	0.22421	0.69	0.47621	D	0.999476	D;B;D;B;B;D;D;B;D	0.71674	0.994;0.0;0.992;0.0;0.0;0.992;0.992;0.0;0.998	P;B;P;B;B;P;P;B;D	0.64506	0.879;0.001;0.815;0.001;0.001;0.815;0.815;0.001;0.926	T	0.00984	-1.1491	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1177;1133;1188;1162;1141;1217;1196;1170;1225	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	F	1225;1203;1177;1141;1217;1133;1196;1162;1170;1188	ENSP00000399511:S1225F;ENSP00000358332:S1203F;ENSP00000443278:S1177F;ENSP00000345352:S1141F;ENSP00000284483:S1217F;ENSP00000418156:S1133F;ENSP00000349880:S1196F;ENSP00000418916:S1162F;ENSP00000418378:S1170F;ENSP00000419990:S1188F	ENSP00000284483:S1217F	S	-	2	0	TNIK	172269356	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.827000	0.75303	2.882000	0.98803	0.655000	0.94253	TCT		0.378	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2		XM_039796		10	49	0	0	0	0.006214	0	10	49		
PLD1	5337	broad.mit.edu	37	3	171338225	171338225	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:171338225G>C	ENST00000351298.4	-	24	2805	c.2679C>G	c.(2677-2679)atC>atG	p.I893M	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Missense_Mutation_p.I855M|PLD1_ENST00000340989.4_Missense_Mutation_p.I893M	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	893	Catalytic.|PLD phosphodiesterase 2. {ECO:0000255|PROSITE-ProRule:PRU00153}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGTGGACATAGATAAGCTCAG	0.353																																					NSCLC(149;2174 3517 34058)	uc003fhs.2		NaN																	0				ovary(2)|lung(1)	3						c.(2677-2679)ATC>ATG		phospholipase D1 isoform a	Choline(DB00122)						130.0	125.0	127.0					3																	171338225		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171338225G>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2679C>G	3.37:g.171338225G>C	ENSP00000342793:p.Ile893Met					PLD1_uc003fht.2_Missense_Mutation_p.I855M|PLD1_uc003fhu.3_Missense_Mutation_p.I187M	p.I893M	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		24	2795	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		893			Catalytic.|PLD phosphodiesterase 2.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2679C>G	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.071801|3.071801	0.55646|0.55646	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989|ENST00000446289	T;T;T|.	0.23950|.	1.88;1.88;1.88|.	5.5|5.5	1.35|1.35	0.21983|0.21983	Phospholipase D/Transphosphatidylase (2);|.	0.048700|.	0.85682|.	D|.	0.000000|.	T|T	0.76730|0.76730	0.4028|0.4028	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	P;D;D|.	0.62365|.	0.936;0.981;0.991|.	P;D;D|.	0.70935|.	0.897;0.971;0.971|.	T|T	0.74842|0.74842	-0.3527|-0.3527	10|5	0.87932|.	D|.	0|.	-9.1695|-9.1695	2.9983|2.9983	0.06005|0.06005	0.1375:0.1188:0.5035:0.2402|0.1375:0.1188:0.5035:0.2402	.|.	893;878;893|.	Q13393-4;Q59EA4;Q13393|.	.;.;PLD1_HUMAN|.	M|C	855;893;893|156	ENSP00000348681:I855M;ENSP00000342793:I893M;ENSP00000340326:I893M|.	ENSP00000340326:I893M|.	I|S	-|-	3|2	3|0	PLD1|PLD1	172820919|172820919	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.802000|0.802000	0.45316|0.45316	2.964000|2.964000	0.49192|0.49192	0.669000|0.669000	0.31146|0.31146	0.491000|0.491000	0.48974|0.48974	ATC|TCT		0.353	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2		NM_002662		16	116	0	0	0	0.006122	0	16	116		
FNDC3B	64778	broad.mit.edu	37	3	172061911	172061911	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:172061911G>A	ENST00000336824.4	+	19	2212	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E705K|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E705K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	705	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGAGGTCTCAGAGTACAGCGT	0.527																																						uc003fhy.2		NaN																	0				ovary(2)|breast(1)	3						c.(2113-2115)GAG>AAG		fibronectin type III domain containing 3B							143.0	136.0	138.0					3																	172061911		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172061911G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2113G>A	3.37:g.172061911G>A	ENSP00000338523:p.Glu705Lys					FNDC3B_uc003fhz.3_Missense_Mutation_p.E705K	p.E705K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	19	2285	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		705			Fibronectin type-III 5.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.2113G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986196	0.53934	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.55760	0.5;0.5;0.5	5.81	5.81	0.92471	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.046865	0.85682	D	0.000000	T	0.59211	0.2177	L	0.58969	1.84	0.80722	D	1	B	0.33777	0.425	P	0.45343	0.477	T	0.51220	-0.8733	10	0.06757	T	0.87	-24.3343	20.0912	0.97820	0.0:0.0:1.0:0.0	.	705	Q53EP0	FND3B_HUMAN	K	705	ENSP00000411242:E705K;ENSP00000338523:E705K;ENSP00000389094:E705K	ENSP00000338523:E705K	E	+	1	0	FNDC3B	173544605	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.186000	0.72026	2.746000	0.94184	0.591000	0.81541	GAG		0.527	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2		NM_022763		12	111	0	0	0	0.00245	0	12	111		
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				29	37	0	0	0	0.007291	0	29	37		
MFN1	55669	broad.mit.edu	37	3	179066706	179066706	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:179066706G>A	ENST00000471841.1	+	2	193	c.67G>A	c.(67-69)Gac>Aac	p.D23N	MFN1_ENST00000280653.7_Missense_Mutation_p.D23N|MFN1_ENST00000263969.5_Missense_Mutation_p.D23N	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	23					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGCAATCTTTGACCAGTTACT	0.358																																						uc003fjs.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(67-69)GAC>AAC		mitofusin 1							214.0	212.0	213.0					3																	179066706		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179066706G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.67G>A	3.37:g.179066706G>A	ENSP00000420617:p.Asp23Asn					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.D51N	p.D23N	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		2	193	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		23			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.67G>A	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774141	0.49786	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.99758	-5.68;-6.65;-4.94;-5.68	3.73	3.73	0.42828	.	0.332867	0.31268	N	0.007945	D	0.98216	0.9410	N	0.22421	0.69	0.39669	D	0.970722	P;B	0.37914	0.611;0.22	B;B	0.30029	0.103;0.11	D	0.99981	1.2603	10	0.21540	T	0.41	-1.8815	16.0729	0.80948	0.0:0.0:1.0:0.0	.	51;23	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	N	23	ENSP00000420617:D23N;ENSP00000280653:D23N;ENSP00000419134:D23N;ENSP00000263969:D23N	ENSP00000263969:D23N	D	+	1	0	MFN1	180549400	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	6.090000	0.71397	2.074000	0.62210	0.585000	0.79938	GAC		0.358	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2		NM_017927		38	163	0	0	0	0.006999	0	38	163		
LAMP3	27074	broad.mit.edu	37	3	182872117	182872117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:182872117G>A	ENST00000265598.3	-	2	367	c.112C>T	c.(112-114)Caa>Taa	p.Q38*	LAMP3_ENST00000466939.1_Nonsense_Mutation_p.Q14*	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	38					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GCAGTAGGTTGAGAATAATCT	0.398																																						uc003flh.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(112-114)CAA>TAA		lysosomal-associated membrane protein 3							162.0	150.0	154.0					3																	182872117		2203	4300	6503	SO:0001587	stop_gained	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182872117G>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.112C>T	3.37:g.182872117G>A	ENSP00000265598:p.Gln38*						p.Q38*	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		2	336	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		38			Lumenal (Potential).		D3DNS4|O94781|Q8NEC8	Nonsense_Mutation	SNP	ENST00000265598.3	37	c.112C>T	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769662	0.69992	.	.	ENSG00000078081	ENST00000265598;ENST00000466939;ENST00000476015;ENST00000470251	.	.	.	5.49	2.44	0.29823	.	0.627612	0.15035	N	0.284208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-1.9933	8.5607	0.33509	0.0889:0.3103:0.6008:0.0	.	.	.	.	X	38;14;38;14	.	ENSP00000265598:Q38X	Q	-	1	0	LAMP3	184354811	0.000000	0.05858	0.022000	0.16811	0.006000	0.05464	0.075000	0.14686	0.661000	0.30985	0.655000	0.94253	CAA		0.398	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1				57	70	0	0	0	0.01441	0	57	70		
ECE2	9718	broad.mit.edu	37	3	183967552	183967552	+	Missense_Mutation	SNP	G	G	A	rs373062910		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:183967552G>A	ENST00000402825.3	+	1	70	c.70G>A	c.(70-72)Gag>Aag	p.E24K	ALG3_ENST00000445626.2_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_5'Flank|ECE2_ENST00000324557.4_Missense_Mutation_p.E24K|ALG3_ENST00000418734.2_5'Flank|ALG3_ENST00000455059.1_5'Flank	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	24	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGCGAAGTCGAGTACTGGGA	0.672											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003fni.3		NaN																	0				ovary(2)|skin(2)	4						c.(70-72)GAG>AAG		endothelin converting enzyme 2 isoform A							46.0	46.0	46.0					3																	183967552		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183967552G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.70G>A	3.37:g.183967552G>A	ENSP00000384223:p.Glu24Lys		OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	ALG3_uc003fne.2_5'Flank|ALG3_uc011brc.1_5'Flank|ALG3_uc011brd.1_5'Flank|ALG3_uc011bre.1_5'Flank|ALG3_uc003fnf.1_5'Flank|ALG3_uc011brf.1_5'Flank|ECE2_uc003fnh.3_Missense_Mutation_p.E24K	p.E24K	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	108	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		24			Cytoplasmic (Potential).|Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.70G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857253	0.51376	.	.	ENSG00000145194	ENST00000324557;ENST00000402825	T;T	0.66995	-0.24;-0.24	5.57	3.77	0.43336	.	.	.	.	.	T	0.61248	0.2332	M	0.62088	1.915	0.80722	D	1	B;B	0.20368	0.007;0.044	B;B	0.12837	0.002;0.008	T	0.58233	-0.7672	9	0.49607	T	0.09	-1.9725	9.6362	0.39809	0.1496:0.556:0.2944:0.0	.	24;24	O60344;O60344-4	ECE2_HUMAN;.	K	24	ENSP00000314295:E24K;ENSP00000384223:E24K	ENSP00000314295:E24K	E	+	1	0	ECE2	185450246	0.906000	0.30813	0.999000	0.59377	0.667000	0.39255	1.907000	0.39897	0.817000	0.34445	-0.203000	0.12734	GAG		0.672	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3		NM_014693		10	19	0	0	0	0.008291	0	10	19		
TRA2B	6434	broad.mit.edu	37	3	185643391	185643391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:185643391C>T	ENST00000453386.2	-	3	469	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	TRA2B_ENST00000471134.1_5'Flank|TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	65	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R65Q(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ATAATGCCTTCGGGAGCTTCT	0.463																																						uc003fpv.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(193-195)CGA>CAA		splicing factor, arginine/serine-rich 10							99.0	96.0	97.0					3																	185643391		2203	4300	6503	SO:0001583	missense	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185643391C>T	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.194G>A	3.37:g.185643391C>T	ENSP00000416959:p.Arg65Gln					TRA2B_uc003fpt.2_5'Flank|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_5'UTR|TRA2B_uc003fpw.2_Missense_Mutation_p.R65Q	p.R65Q	NM_004593	NP_004584	P62995	TRA2B_HUMAN			3	470	-			65			Arg/Ser-rich (RS1 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.194G>A	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014712	0.93404	.	.	ENSG00000136527	ENST00000453386	T	0.24350	1.86	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	L	0.59436	1.845	0.80722	D	1	D;D	0.58620	0.983;0.983	P;P	0.61201	0.885;0.885	T	0.03576	-1.1023	10	0.14656	T	0.56	-3.3171	19.6509	0.95805	0.0:1.0:0.0:0.0	.	65;65	B2RDQ3;P62995	.;TRA2B_HUMAN	Q	65	ENSP00000416959:R65Q	ENSP00000416959:R65Q	R	-	2	0	TRA2B	187126085	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.048000	0.71046	2.941000	0.99782	0.655000	0.94253	CGA		0.463	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1		NM_004593		16	47	0	0	0	0.003163	0	16	47		
FETUB	26998	broad.mit.edu	37	3	186358310	186358310	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:186358310C>T	ENST00000265029.3	+	1	162	c.61C>T	c.(61-63)Cca>Tca	p.P21S	FETUB_ENST00000382134.3_Missense_Mutation_p.P21S|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.P21S|FETUB_ENST00000382136.3_Missense_Mutation_p.P21S	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	21					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGCAATGTCTCCACCCCAGCT	0.592																																						uc010hyq.2		NaN																	0				ovary(1)|lung(1)	2						c.(61-63)CCA>TCA		fetuin B precursor							157.0	156.0	157.0					3																	186358310		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186358310C>T	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.61C>T	3.37:g.186358310C>T	ENSP00000265029:p.Pro21Ser					FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Missense_Mutation_p.P21S|FETUB_uc003fqo.2_5'UTR|FETUB_uc010hyr.2_Missense_Mutation_p.P21S|FETUB_uc010hys.2_5'UTR|FETUB_uc003fqp.3_Missense_Mutation_p.P21S	p.P21S	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	2	322	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		21					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.61C>T	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488058	0.44249	.	.	ENSG00000090512	ENST00000450521;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.02	-3.46	0.04767	.	2.121440	0.01869	N	0.037085	T	0.45357	0.1338	L	0.55990	1.75	0.09310	N	1	P;B;P	0.47409	0.895;0.116;0.534	B;B;B	0.44315	0.446;0.024;0.261	T	0.56323	-0.7998	10	0.32370	T	0.25	1.8385	15.4497	0.75262	0.0:0.1775:0.746:0.0765	.	21;21;21	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	S	21	ENSP00000404288:P21S;ENSP00000265029:P21S;ENSP00000371569:P21S;ENSP00000371571:P21S	ENSP00000265029:P21S	P	+	1	0	FETUB	187841004	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.349000	0.02627	-0.531000	0.06340	-0.175000	0.13238	CCA		0.592	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1		NM_014375		101	101	0	0	0	0.01441	0	101	101		
MASP1	5648	broad.mit.edu	37	3	186969425	186969425	+	Silent	SNP	C	C	T	rs116595107		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:186969425C>T	ENST00000337774.5	-	7	1397	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	MASP1_ENST00000392472.2_Silent_p.L223L|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Silent_p.L310L|MASP1_ENST00000296280.6_Silent_p.L336L|MASP1_ENST00000169293.6_Silent_p.L336L	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	336	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCTGCACCTTCAGCACTTTGT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18291	0.001		0.0	False		,,,				2504	0.0					uc003frh.1		NaN																	0				ovary(2)|breast(1)|liver(1)	4						c.(1006-1008)CTG>CTA		mannan-binding lectin serine protease 1 isoform							114.0	107.0	109.0					3																	186969425		2203	4300	6503	SO:0001819	synonymous_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186969425C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1008G>A	3.37:g.186969425C>T						MASP1_uc003fri.2_Silent_p.L336L|MASP1_uc003frj.2_Silent_p.L305L|MASP1_uc003frk.1_Silent_p.L336L|MASP1_uc011bse.1_Silent_p.L310L	p.L336L	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	7	1340	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		336			Sushi 1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.1008G>A	CCDS33907.1																																																																																				0.552	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1		NM_001879		60	50	0	0	0	0.01441	0	60	50		
TP63	8626	broad.mit.edu	37	3	189349350	189349350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:189349350G>A	ENST00000264731.3	+	1	135	c.46G>A	c.(46-48)Gac>Aac	p.D16N	TP63_ENST00000418709.2_Missense_Mutation_p.D16N|TP63_ENST00000440651.2_Missense_Mutation_p.D16N|TP63_ENST00000382063.4_Missense_Mutation_p.D16N|TP63_ENST00000320472.5_Missense_Mutation_p.D16N|TP63_ENST00000392460.3_Missense_Mutation_p.D16N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	16	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTACTGCCCTGACCCTTACAT	0.378										HNSCC(45;0.13)																												uc003fry.2		NaN																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(46-48)GAC>AAC		tumor protein p63 isoform 1							173.0	160.0	164.0					3																	189349350		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189349350G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.46G>A	3.37:g.189349350G>A	ENSP00000264731:p.Asp16Asn	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.D16N|TP63_uc003frz.2_Missense_Mutation_p.D16N|TP63_uc010hzc.1_Missense_Mutation_p.D16N	p.D16N	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	1	135	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		16			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.46G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950165	0.53186	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99671	-5.99;-6.27;-6.23;-6.23;-5.99;-6.35	5.72	5.72	0.89469	.	0.587759	0.17437	N	0.174248	D	0.98896	0.9626	N	0.08118	0	0.80722	D	1	B;D;D;B	0.63880	0.135;0.988;0.993;0.05	B;D;D;B	0.73708	0.084;0.981;0.956;0.084	D	0.99461	1.0943	9	.	.	.	-2.3619	18.8671	0.92296	0.0:0.0:1.0:0.0	.	16;16;16;16	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	N	16	ENSP00000264731:D16N;ENSP00000407144:D16N;ENSP00000317510:D16N;ENSP00000376253:D16N;ENSP00000394337:D16N;ENSP00000371495:D16N	.	D	+	1	0	TP63	190832044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.918000	0.75788	2.695000	0.91970	0.655000	0.94253	GAC		0.378	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1		NM_003722		40	125	0	0	0	0.007835	0	40	125		
HES1	3280	broad.mit.edu	37	3	193854434	193854434	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:193854434G>A	ENST00000232424.3	+	2	373	c.137G>A	c.(136-138)cGa>cAa	p.R46Q		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GAGAAAAGACGAAGAGCAAGA	0.408																																						uc003ftq.1		NaN																	0				ovary(1)|lung(1)	2						c.(136-138)CGA>CAA		hairy and enhancer of split 1							66.0	72.0	70.0					3																	193854434		2203	4300	6503	SO:0001583	missense	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193854434G>A	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.137G>A	3.37:g.193854434G>A	ENSP00000232424:p.Arg46Gln					HES1_uc011bst.1_Missense_Mutation_p.R46Q	p.R46Q	NM_005524	NP_005515	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	2	373	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		46			Basic motif.		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	ENST00000232424.3	37	c.137G>A	CCDS3305.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247165	0.95305	.	.	ENSG00000114315	ENST00000232424	D	0.99722	-6.53	5.57	5.57	0.84162	Helix-loop-helix DNA-binding (5);	0.052913	0.64402	D	0.000001	D	0.99857	0.9933	H	0.98238	4.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.983;1.0	D	0.96645	0.9477	10	0.87932	D	0	-26.2485	18.1225	0.89576	0.0:0.0:1.0:0.0	.	46;46	B4DU36;Q14469	.;HES1_HUMAN	Q	46	ENSP00000232424:R46Q	ENSP00000232424:R46Q	R	+	2	0	HES1	195337128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.562000	0.98145	2.625000	0.88918	0.655000	0.94253	CGA		0.408	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1				10	14	0	0	0	0.008291	0	10	14		
HES1	3280	broad.mit.edu	37	3	193855629	193855629	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:193855629C>T	ENST00000232424.3	+	4	686	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TGACCCAGATCAATGCCATGA	0.716																																						uc003ftq.1		NaN																	0				ovary(1)|lung(1)	2						c.(448-450)ATC>ATT		hairy and enhancer of split 1							50.0	48.0	49.0					3																	193855629		2203	4300	6503	SO:0001819	synonymous_variant	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193855629C>T	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.450C>T	3.37:g.193855629C>T							p.I150I	NM_005524	NP_005515	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	4	686	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		150					A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	ENST00000232424.3	37	c.450C>T	CCDS3305.1																																																																																				0.716	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1				5	18	0	0	0	0.001168	0	5	18		
RNF168	165918	broad.mit.edu	37	3	196214289	196214289	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:196214289C>G	ENST00000318037.3	-	3	1133	c.539G>C	c.(538-540)aGa>aCa	p.R180T		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	180					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTTAGCTTTCTTGCCAGTTC	0.473																																						uc003fwq.2		NaN																	0					0						c.(538-540)AGA>ACA		ring finger protein 168							531.0	493.0	506.0					3																	196214289		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214289C>G	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.539G>C	3.37:g.196214289C>G	ENSP00000320898:p.Arg180Thr					RNF168_uc010iah.2_Missense_Mutation_p.R13T	p.R180T	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	3	1077	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		180			MIU motif 1.		Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.539G>C	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475376	0.63737	.	.	ENSG00000163961	ENST00000318037	T	0.09817	2.94	5.41	5.41	0.78517	.	0.102085	0.43416	D	0.000579	T	0.19604	0.0471	M	0.79475	2.455	0.39305	D	0.964978	P	0.38922	0.651	B	0.38156	0.266	T	0.02610	-1.1134	10	0.40728	T	0.16	-4.4308	18.9814	0.92756	0.0:1.0:0.0:0.0	.	180	Q8IYW5	RN168_HUMAN	T	180	ENSP00000320898:R180T	ENSP00000320898:R180T	R	-	2	0	RNF168	197698686	0.986000	0.35501	0.936000	0.37596	0.977000	0.68977	4.697000	0.61782	2.826000	0.97356	0.655000	0.94253	AGA		0.473	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1		NM_152617		90	290	0	0	0	0.01441	0	90	290		
BDH1	622	broad.mit.edu	37	3	197238892	197238892	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:197238892G>A	ENST00000392378.2	-	7	1216	c.906C>T	c.(904-906)gtC>gtT	p.V302V	BDH1_ENST00000441275.1_Silent_p.V215V|BDH1_ENST00000392379.1_Silent_p.V302V|BDH1_ENST00000358186.2_Silent_p.V302V	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	302					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		GGGCGTGTGTGACAGCATCGA	0.572																																						uc003fxr.2		NaN																	0				ovary(1)	1						c.(904-906)GTC>GTT		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						198.0	165.0	176.0					3																	197238892		2203	4300	6503	SO:0001819	synonymous_variant	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197238892G>A	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.906C>T	3.37:g.197238892G>A						BDH1_uc003fxs.2_Silent_p.V302V|BDH1_uc003fxt.2_Silent_p.V215V|BDH1_uc003fxu.2_Silent_p.V302V	p.V302V	NM_203314	NP_976059	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	8	1308	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	302					D3DXC0|Q96ET1|Q9BRZ4	Silent	SNP	ENST00000392378.2	37	c.906C>T	CCDS3328.1																																																																																				0.572	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1		NM_004051		24	72	0	0	0	0.003954	0	24	72		
MFSD7	84179	broad.mit.edu	37	4	676629	676629	+	Missense_Mutation	SNP	C	C	T	rs375187316		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:676629C>T	ENST00000404286.2	-	9	1220	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	MFSD7_ENST00000515118.1_Missense_Mutation_p.R305Q|MFSD7_ENST00000503156.1_Missense_Mutation_p.R337Q|MFSD7_ENST00000322224.4_Missense_Mutation_p.R401Q|MFSD7_ENST00000347950.5_Missense_Mutation_p.R283Q	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	402					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CTCCGAGCGTCGCACAGTCAG	0.652																																						uc003gay.2		NaN																	0					0						c.(1204-1206)CGA>CAA		major facilitator superfamily domain containing		C	GLN/ARG	1,4397	2.1+/-5.4	0,1,2198	74.0	62.0	66.0		1202	-3.5	0.0	4		66	0,8596		0,0,4298	no	missense	MFSD7	NM_032219.2	43	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	401/560	676629	1,12993	2199	4298	6497	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:676629C>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1205G>A	4.37:g.676629C>T	ENSP00000384616:p.Arg402Gln					MFSD7_uc003gaw.2_Missense_Mutation_p.R144Q|MFSD7_uc003gax.2_Missense_Mutation_p.R401Q|MFSD7_uc003gaz.2_Missense_Mutation_p.R283Q|MFSD7_uc003gba.2_Missense_Mutation_p.R305Q|MFSD7_uc003gbb.1_Missense_Mutation_p.R337Q	p.R402Q	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			9	1262	-			402					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.1205G>A		.	.	.	.	.	.	.	.	.	.	C	8.291	0.817833	0.16607	2.27E-4	0.0	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	4.2	-3.48	0.04739	Major facilitator superfamily domain, general substrate transporter (1);	0.506332	0.20081	N	0.099649	T	0.14013	0.0339	L	0.50919	1.6	0.09310	N	0.999998	B;B;B;B;B	0.28378	0.11;0.209;0.016;0.041;0.055	B;B;B;B;B	0.15052	0.012;0.012;0.007;0.004;0.007	T	0.32402	-0.9908	10	0.14252	T	0.57	-7.8963	5.2493	0.15514	0.0:0.2539:0.2801:0.466	.	337;305;283;402;401	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	Q	283;401;402;305;337	ENSP00000307545:R283Q;ENSP00000320234:R401Q;ENSP00000384616:R402Q;ENSP00000423204:R305Q;ENSP00000425753:R337Q	ENSP00000320234:R401Q	R	-	2	0	MFSD7	666629	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.908000	0.01587	-0.776000	0.04578	-0.398000	0.06409	CGA		0.652	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1		NM_032219		4	6	0	0	0	0.009096	0	4	6		
MFSD7	84179	broad.mit.edu	37	4	678583	678583	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:678583C>A	ENST00000404286.2	-	5	663	c.648G>T	c.(646-648)gaG>gaT	p.E216D	MFSD7_ENST00000515118.1_Missense_Mutation_p.E119D|MFSD7_ENST00000503156.1_Missense_Mutation_p.E152D|MFSD7_ENST00000322224.4_Missense_Mutation_p.E216D|MFSD7_ENST00000513740.1_5'Flank|MFSD7_ENST00000347950.5_Missense_Mutation_p.E97D	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	216					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGGCACACTCTCCCACAGGC	0.657																																						uc003gay.2		NaN																	0					0						c.(646-648)GAG>GAT		major facilitator superfamily domain containing							30.0	32.0	31.0					4																	678583		2203	4298	6501	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:678583C>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.648G>T	4.37:g.678583C>A	ENSP00000384616:p.Glu216Asp					MFSD7_uc003gaw.2_5'UTR|MFSD7_uc003gax.2_Missense_Mutation_p.E216D|MFSD7_uc003gaz.2_Missense_Mutation_p.E97D|MFSD7_uc003gba.2_Missense_Mutation_p.E119D|MFSD7_uc003gbb.1_Missense_Mutation_p.E152D	p.E216D	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			5	705	-			216					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.648G>T		.	.	.	.	.	.	.	.	.	.	c	9.736	1.163502	0.21538	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000507165	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	3.9	3.04	0.35103	Major facilitator superfamily domain, general substrate transporter (1);	0.409724	0.27645	N	0.018450	T	0.47097	0.1427	L	0.39245	1.2	0.21445	N	0.999684	B;B;B;B;B	0.29188	0.005;0.124;0.236;0.001;0.001	B;B;B;B;B	0.26517	0.012;0.051;0.07;0.003;0.004	T	0.24693	-1.0153	10	0.17832	T	0.49	-17.9551	9.6582	0.39939	0.0:0.7879:0.2121:0.0	.	152;119;97;216;216	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	D	97;216;216;119;152;152	ENSP00000307545:E97D;ENSP00000320234:E216D;ENSP00000384616:E216D;ENSP00000423204:E119D;ENSP00000425753:E152D;ENSP00000424556:E152D	ENSP00000320234:E216D	E	-	3	2	MFSD7	668583	0.012000	0.17670	0.973000	0.42090	0.049000	0.14656	0.205000	0.17356	1.200000	0.43188	0.461000	0.40582	GAG		0.657	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1		NM_032219		17	9	1	0	4.96729e-08	0.008871	5.12554e-08	17	9		
GAK	2580	broad.mit.edu	37	4	887189	887189	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:887189C>T	ENST00000314167.4	-	9	1076	c.966G>A	c.(964-966)gtG>gtA	p.V322V	GAK_ENST00000511163.1_Silent_p.V243V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	322					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ACTTGGGGTTCACGTTGCGGG	0.662																																						uc003gbm.3		NaN																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(964-966)GTG>GTA		cyclin G associated kinase							37.0	38.0	37.0					4																	887189		2201	4298	6499	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:887189C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.966G>A	4.37:g.887189C>T						GAK_uc003gbn.3_Silent_p.V243V|GAK_uc010ibk.1_Silent_p.V216V|GAK_uc003gbl.3_Silent_p.V186V	p.V322V	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	9	1165	-			322					Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.966G>A	CCDS3340.1																																																																																				0.662	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1		NM_005255		9	17	0	0	0	0.010729	0	9	17		
CRIPAK	285464	broad.mit.edu	37	4	1388306	1388306	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:1388306G>A	ENST00000324803.4	+	1	2967	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	3					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			tcttatGCATGAGCCCTCGCT	0.517																																						uc003gdf.2		NaN																	0					0						c.(7-9)GAG>AAG		cysteine-rich PAK1 inhibitor							102.0	107.0	105.0					4																	1388306		2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388306G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.7G>A	4.37:g.1388306G>A	ENSP00000323978:p.Glu3Lys						p.E3K	NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	2967	+			3					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.7G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	7.627	0.677956	0.14841	.	.	ENSG00000179979	ENST00000324803	T	0.23950	1.88	.	.	.	.	.	.	.	.	T	0.09202	0.0227	N	0.08118	0	0.20873	N	0.999831	P	0.41041	0.736	B	0.28784	0.094	T	0.18116	-1.0347	7	0.87932	D	0	.	.	.	.	.	3	Q8N1N5	CRPAK_HUMAN	K	3	ENSP00000323978:E3K	ENSP00000323978:E3K	E	+	1	0	CRIPAK	1378306	0.249000	0.23941	0.284000	0.24805	0.288000	0.27193	1.669000	0.37492	0.119000	0.18210	0.121000	0.15741	GAG		0.517	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2		NM_175918		81	59	0	0	0	0.01441	0	81	59		
TACC3	10460	broad.mit.edu	37	4	1746259	1746259	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:1746259G>A	ENST00000313288.4	+	14	2344	c.2238G>A	c.(2236-2238)ctG>ctA	p.L746L		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	746					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAGAGTCACTGAAGAAGTGCG	0.607																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2236-2238)CTG>CTA		transforming, acidic coiled-coil containing							73.0	69.0	70.0					4																	1746259		2203	4300	6503	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1746259G>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2238G>A	4.37:g.1746259G>A						TACC3_uc003gdp.2_Silent_p.L386L|TACC3_uc010ica.2_Silent_p.L167L	p.L746L	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		14	2346	+		Breast(71;0.212)|all_epithelial(65;0.241)	746			Potential.		Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.2238G>A	CCDS3352.1																																																																																				0.607	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2				9	55	0	0	0	0.006214	0	9	55		
TNIP2	79155	broad.mit.edu	37	4	2746669	2746669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:2746669C>T	ENST00000315423.7	-	4	747	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000510267.1_Missense_Mutation_p.E114K|TNIP2_ENST00000503235.1_Intron	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGAGGTCTTCAACCTGAAGA	0.582																																						uc003gfg.2		NaN																	0				central_nervous_system(1)	1						c.(661-663)GAA>AAA		A20-binding inhibitor of NF-kappaB activation 2							40.0	35.0	37.0					4																	2746669		2202	4297	6499	SO:0001583	missense	79155					cytosol	protein binding	g.chr4:2746669C>T	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.661G>A	4.37:g.2746669C>T	ENSP00000321203:p.Glu221Lys					TNIP2_uc003gff.2_Missense_Mutation_p.E114K|TNIP2_uc003gfh.2_Intron	p.E221K	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	748	-			221			Potential.			Missense_Mutation	SNP	ENST00000315423.7	37	c.661G>A	CCDS3362.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797015	0.90453	.	.	ENSG00000168884	ENST00000510267;ENST00000315423	T;T	0.51325	0.72;0.71	5.12	5.12	0.69794	TSG101 and ALIX binding domain of CEP55 (1);	0.053522	0.85682	D	0.000000	T	0.66915	0.2838	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	D	0.72075	0.976	T	0.69518	-0.5124	10	0.72032	D	0.01	-25.3896	17.9284	0.88990	0.0:1.0:0.0:0.0	.	221	Q8NFZ5	TNIP2_HUMAN	K	114;221	ENSP00000427613:E114K;ENSP00000321203:E221K	ENSP00000321203:E221K	E	-	1	0	TNIP2	2716467	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.376000	0.59556	2.557000	0.86248	0.555000	0.69702	GAA		0.582	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5		NM_024309		8	35	0	0	0	0.004482	0	8	35		
RGS12	6002	broad.mit.edu	37	4	3344756	3344756	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:3344756C>T	ENST00000344733.5	+	3	2878	c.1974C>T	c.(1972-1974)atC>atT	p.I658I	RGS12_ENST00000336727.3_Silent_p.I658I|RGS12_ENST00000306648.7_Silent_p.I56I|RGS12_ENST00000382788.3_Silent_p.I658I|RGS12_ENST00000543385.1_Silent_p.I658I	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	658					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATTCAGTATCACTCGCTCCC	0.433																																						uc003ggw.2		NaN																	0				skin(1)	1						c.(1972-1974)ATC>ATT		regulator of G-protein signalling 12 isoform 1							135.0	127.0	129.0					4																	3344756		2202	4300	6502	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3344756C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1974C>T	4.37:g.3344756C>T						RGS12_uc003ggu.2_Silent_p.I658I|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Silent_p.I658I|RGS12_uc003ggy.1_Silent_p.I56I|RGS12_uc003ggx.1_Silent_p.I658I	p.I658I	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	2878	+			658					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.1974C>T	CCDS3366.1																																																																																				0.433	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1		NM_002926		16	65	0	0	0	0.004007	0	16	65		
RGS12	6002	broad.mit.edu	37	4	3424704	3424704	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:3424704C>T	ENST00000344733.5	+	12	4010	c.3106C>T	c.(3106-3108)Cgg>Tgg	p.R1036W	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Splice_Site_p.R1036W|RGS12_ENST00000306648.7_Splice_Site_p.R434W|RGS12_ENST00000382788.3_Splice_Site_p.R1036W|RGS12_ENST00000538395.1_Splice_Site_p.R378W|RGS12_ENST00000338806.4_Splice_Site_p.R388W	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1036	RBD 2. {ECO:0000255|PROSITE- ProRule:PRU00262}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACCTTGTTTCGGTAAGAGGA	0.582																																						uc003ggw.2		NaN																	0				skin(1)	1						c.(3106-3108)CGG>TGG		regulator of G-protein signalling 12 isoform 1							89.0	79.0	82.0					4																	3424704		2202	4300	6502	SO:0001630	splice_region_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3424704C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3107+1C>T	4.37:g.3424704C>T						RGS12_uc003ggv.2_Missense_Mutation_p.R1036W|RGS12_uc003ggy.1_Missense_Mutation_p.R434W|RGS12_uc003ggz.2_Missense_Mutation_p.R388W|RGS12_uc010icu.1_Missense_Mutation_p.R235W|RGS12_uc011bvs.1_Missense_Mutation_p.R378W|RGS12_uc003gha.2_Missense_Mutation_p.R378W|RGS12_uc010icv.2_Missense_Mutation_p.R235W|RGS12_uc003ghb.2_Missense_Mutation_p.R235W	p.R1036W	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	12	4010	+			1036			RBD 2.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3106C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804571	0.70682	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.39056	1.38;1.39;1.39;1.11;1.1;1.13	4.46	4.46	0.54185	Raf-like Ras-binding (3);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	L	0.56769	1.78	0.58432	D	0.999997	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.992;1.0;1.0;1.0	T	0.66192	-0.5985	10	0.87932	D	0	-24.2662	16.1044	0.81212	0.0:1.0:0.0:0.0	.	378;235;235;378;388;434;1036;1036	B7Z764;B3KVS7;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;RGS12_HUMAN;.	W	1036;1036;1036;434;388;378	ENSP00000339381:R1036W;ENSP00000338509:R1036W;ENSP00000372238:R1036W;ENSP00000304459:R434W;ENSP00000342133:R388W;ENSP00000438888:R378W	ENSP00000304459:R434W	R	+	1	2	RGS12	3394502	1.000000	0.71417	0.907000	0.35723	0.756000	0.42949	4.495000	0.60353	2.015000	0.59207	0.407000	0.27541	CGG		0.582	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1		NM_002926	Missense_Mutation	7	35	0	0	0	0.00308	0	7	35		
ZBTB49	166793	broad.mit.edu	37	4	4303908	4303908	+	Silent	SNP	A	A	T	rs200841348		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:4303908A>T	ENST00000337872.4	+	3	466	c.345A>T	c.(343-345)acA>acT	p.T115T	ZBTB49_ENST00000355834.3_Silent_p.T115T|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TGTGTCACACATTTTTAAAAT	0.418																																						uc003ghu.2		NaN																	0				ovary(1)|skin(1)	2						c.(343-345)ACA>ACT		zinc finger protein 509							130.0	121.0	124.0					4																	4303908		2203	4300	6503	SO:0001819	synonymous_variant	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4303908A>T	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.345A>T	4.37:g.4303908A>T						ZBTB49_uc003ghv.2_Intron|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank	p.T115T	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			3	520	+			115					Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	37	c.345A>T	CCDS3375.1																																																																																				0.418	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3		NM_145291		47	143	0	0	0	0.013114	0	47	143		
EVC2	132884	broad.mit.edu	37	4	5567045	5567045	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:5567045C>G	ENST00000344408.5	-	21	3652	c.3599G>C	c.(3598-3600)cGa>cCa	p.R1200P	EVC2_ENST00000344938.1_Missense_Mutation_p.R1200P|EVC2_ENST00000310917.2_Missense_Mutation_p.R1120P	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1200					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGATCTCCTCGCAGTTTGCC	0.507																																						uc003gij.2		NaN																	0				large_intestine(3)|ovary(2)	5						c.(3598-3600)CGA>CCA		limbin							145.0	139.0	141.0					4																	5567045		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5567045C>G	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3599G>C	4.37:g.5567045C>G	ENSP00000342144:p.Arg1200Pro					EVC2_uc011bwb.1_Missense_Mutation_p.R640P|EVC2_uc003gik.2_Missense_Mutation_p.R1120P	p.R1200P	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			21	3653	-			1200					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3599G>C	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805187	0.31961	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.81247	-1.4;-1.46;-1.47	4.67	4.67	0.58626	.	0.222920	0.35466	N	0.003198	T	0.81861	0.4912	L	0.34521	1.04	0.09310	N	0.999999	D	0.63046	0.992	P	0.59703	0.862	T	0.75224	-0.3393	10	0.87932	D	0	-13.1558	13.4552	0.61195	0.0:1.0:0.0:0.0	.	1200	Q86UK5	LBN_HUMAN	P	1200;1120;1200	ENSP00000339954:R1200P;ENSP00000311683:R1120P;ENSP00000342144:R1200P	ENSP00000311683:R1120P	R	-	2	0	EVC2	5617946	0.772000	0.28567	0.011000	0.14972	0.026000	0.11368	2.310000	0.43708	2.318000	0.78349	0.655000	0.94253	CGA		0.507	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2		NM_147127		7	107	0	0	0	0.004482	0	7	107		
EVC2	132884	broad.mit.edu	37	4	5578040	5578040	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:5578040C>T	ENST00000344408.5	-	18	3252	c.3199G>A	c.(3199-3201)Gaa>Aaa	p.E1067K	EVC2_ENST00000344938.1_Missense_Mutation_p.E1067K|EVC2_ENST00000310917.2_Missense_Mutation_p.E987K	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1067					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ACCTGCCTTTCAGAATCCACC	0.617																																						uc003gij.2		NaN																	0				large_intestine(3)|ovary(2)	5						c.(3199-3201)GAA>AAA		limbin							100.0	93.0	95.0					4																	5578040		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5578040C>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3199G>A	4.37:g.5578040C>T	ENSP00000342144:p.Glu1067Lys					EVC2_uc011bwb.1_Missense_Mutation_p.E507K|EVC2_uc003gik.2_Missense_Mutation_p.E987K	p.E1067K	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			18	3253	-			1067			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3199G>A	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282700	0.59867	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.75589	-0.95;-0.94;-0.95	5.38	4.54	0.55810	.	0.467374	0.21137	N	0.079559	T	0.60274	0.2256	L	0.32530	0.975	0.09310	N	1	P	0.49090	0.919	B	0.38378	0.272	T	0.54636	-0.8264	10	0.42905	T	0.14	-3.375	9.9728	0.41765	0.0:0.9062:0.0:0.0938	.	1067	Q86UK5	LBN_HUMAN	K	1067;987;1067	ENSP00000339954:E1067K;ENSP00000311683:E987K;ENSP00000342144:E1067K	ENSP00000311683:E987K	E	-	1	0	EVC2	5628941	0.005000	0.15991	0.003000	0.11579	0.090000	0.18270	1.914000	0.39966	1.275000	0.44379	0.491000	0.48974	GAA		0.617	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2		NM_147127		30	100	0	0	0	0.010818	0	30	100		
CRMP1	1400	broad.mit.edu	37	4	5838496	5838496	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:5838496G>A	ENST00000397890.2	-	10	1320	c.1106C>T	c.(1105-1107)gCg>gTg	p.A369V	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.A367V|CRMP1_ENST00000324989.7_Missense_Mutation_p.A483V	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	369				Missing (in Ref. 7; AAK55500). {ECO:0000305}.	axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTTACCACCGCCTTGTCCCA	0.547																																						uc003gip.2		NaN																	0				ovary(2)	2						c.(1105-1107)GCG>GTG		collapsin response mediator protein 1 isoform 2							137.0	115.0	123.0					4																	5838496		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5838496G>A	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1106C>T	4.37:g.5838496G>A	ENSP00000380987:p.Ala369Val					CRMP1_uc003gin.1_Missense_Mutation_p.A281V|CRMP1_uc003giq.2_Missense_Mutation_p.A369V|CRMP1_uc003gir.2_Missense_Mutation_p.A364V|CRMP1_uc003gis.2_Missense_Mutation_p.A483V	p.A369V	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	11	1207	-			369	Missing (in Ref. 6; AAK55500).				A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.1106C>T	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094540	0.94149	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90324	-2.65;-2.65;-2.65	4.16	4.16	0.48862	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.054564	0.64402	D	0.000001	D	0.95056	0.8399	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.977;0.994	P;B;B;P	0.58928	0.848;0.437;0.437;0.754	D	0.96074	0.9048	10	0.87932	D	0	-13.53	15.975	0.80057	0.0:0.0:1.0:0.0	.	483;367;369;306	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	V	483;369;369;367	ENSP00000321606:A483V;ENSP00000380987:A369V;ENSP00000425742:A367V	ENSP00000321606:A483V	A	-	2	0	CRMP1	5889397	1.000000	0.71417	0.976000	0.42696	0.962000	0.63368	6.014000	0.70784	2.329000	0.79093	0.462000	0.41574	GCG		0.547	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1		NM_001313		29	65	0	0	0	0.012213	0	29	65		
CCDC96	257236	broad.mit.edu	37	4	7044015	7044015	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:7044015C>T	ENST00000310085.4	-	1	713	c.651G>A	c.(649-651)caG>caA	p.Q217Q	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	217										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTGCAGCTTCTGGACCTCCT	0.632																																						uc003gjv.2		NaN																	0					0						c.(649-651)CAG>CAA		coiled-coil domain containing 96							39.0	37.0	38.0					4																	7044015		2202	4298	6500	SO:0001819	synonymous_variant	257236							g.chr4:7044015C>T	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.651G>A	4.37:g.7044015C>T						TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	p.Q217Q	NM_153376	NP_699207	Q2M329	CCD96_HUMAN			1	714	-			217					Q8N2I7	Silent	SNP	ENST00000310085.4	37	c.651G>A	CCDS3395.1																																																																																				0.632	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1		NM_153376		36	22	0	0	0	0.004289	0	36	22		
CCDC96	257236	broad.mit.edu	37	4	7044026	7044026	+	Missense_Mutation	SNP	C	C	T	rs374287436		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:7044026C>T	ENST00000310085.4	-	1	702	c.640G>A	c.(640-642)Gag>Aag	p.E214K	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	214	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TGGACCTCCTCGGACCACTCG	0.637																																						uc003gjv.2		NaN																	0					0						c.(640-642)GAG>AAG		coiled-coil domain containing 96							37.0	34.0	35.0					4																	7044026		2202	4299	6501	SO:0001583	missense	257236							g.chr4:7044026C>T	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.640G>A	4.37:g.7044026C>T	ENSP00000309285:p.Glu214Lys					TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	p.E214K	NM_153376	NP_699207	Q2M329	CCD96_HUMAN			1	703	-			214			Glu-rich.		Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	c.640G>A	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517370	0.44763	.	.	ENSG00000173013	ENST00000310085	T	0.52057	0.68	4.56	2.72	0.32119	.	0.229055	0.27068	N	0.021084	T	0.34164	0.0888	M	0.62723	1.935	0.80722	D	1	P	0.47910	0.902	B	0.32928	0.155	T	0.19712	-1.0297	10	0.15499	T	0.54	-15.8745	9.7797	0.40640	0.1588:0.6879:0.1532:0.0	.	214	Q2M329	CCD96_HUMAN	K	214	ENSP00000309285:E214K	ENSP00000309285:E214K	E	-	1	0	CCDC96	7094927	0.001000	0.12720	0.193000	0.23327	0.089000	0.18198	0.559000	0.23485	0.477000	0.27464	-0.314000	0.08810	GAG		0.637	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1		NM_153376		30	21	0	0	0	0.009535	0	30	21		
SH3TC1	54436	broad.mit.edu	37	4	8237168	8237168	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:8237168G>A	ENST00000245105.3	+	15	3358	c.3291G>A	c.(3289-3291)caG>caA	p.Q1097Q	SH3TC1_ENST00000539824.1_Silent_p.Q1021Q	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1097										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGTGGCACAGAACGTGGCCC	0.647																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.3		NaN																	0				large_intestine(2)|pancreas(1)	3						c.(3289-3291)CAG>CAA		SH3 domain and tetratricopeptide repeats 1							66.0	70.0	68.0					4																	8237168		2203	4300	6503	SO:0001819	synonymous_variant	54436						binding	g.chr4:8237168G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3291G>A	4.37:g.8237168G>A						SH3TC1_uc003gkw.3_Silent_p.Q1021Q|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	p.Q1097Q	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			15	3392	+			1097					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.3291G>A	CCDS3399.1																																																																																				0.647	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2		NM_018986		34	32	0	0	0	0.013726	0	34	32		
GPR125	166647	broad.mit.edu	37	4	22456499	22456499	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:22456499G>A	ENST00000334304.5	-	4	732	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	GPR125_ENST00000502482.1_Silent_p.L155L|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	155					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCCGAACCAGATTGGTGAGT	0.358																																						uc003gqm.1		NaN																	0				skin(1)	1						c.(463-465)CTG>TTG		G protein-coupled receptor 125 precursor							120.0	111.0	114.0					4																	22456499		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22456499G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.463C>T	4.37:g.22456499G>A						GPR125_uc010ieo.1_Silent_p.L29L|GPR125_uc003gqo.2_Silent_p.L155L	p.L155L	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			4	728	-		Breast(46;0.198)	155			Extracellular (Potential).|LRR 4.		Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.463C>T	CCDS33964.1																																																																																				0.358	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3				9	60	0	0	0	0.004482	0	9	60		
LGI2	55203	broad.mit.edu	37	4	25005688	25005688	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:25005688G>C	ENST00000382114.4	-	8	1208	c.1023C>G	c.(1021-1023)gtC>gtG	p.V341V		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	341						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGTCTGCGATGACAAAGAACG	0.468																																						uc003grf.2		NaN																	0					0						c.(1021-1023)GTC>GTG		leucine-rich repeat LGI family, member 2							123.0	124.0	123.0					4																	25005688		2203	4300	6503	SO:0001819	synonymous_variant	55203					extracellular region		g.chr4:25005688G>C	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1023C>G	4.37:g.25005688G>C							p.V341V	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			8	1122	-		Breast(46;0.173)	341			EAR 3.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	c.1023C>G	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	G	6.735	0.504359	0.12822	.	.	ENSG00000153012	ENST00000282970	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-21.8097	19.8769	0.96880	0.0:0.0:1.0:0.0	.	.	.	.	X	15	.	ENSP00000282970:S15X	S	-	2	0	LGI2	24614786	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.042000	0.49815	2.767000	0.95098	0.557000	0.71058	TCA		0.468	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1				70	54	0	0	0	0.01441	0	70	54		
LGI2	55203	broad.mit.edu	37	4	25005740	25005740	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:25005740G>A	ENST00000382114.4	-	8	1156	c.971C>T	c.(970-972)tCc>tTc	p.S324F		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	324						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ATTGGGCTTGGAAATGCGAGA	0.473																																						uc003grf.2		NaN																	0					0						c.(970-972)TCC>TTC		leucine-rich repeat LGI family, member 2							159.0	161.0	161.0					4																	25005740		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25005740G>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.971C>T	4.37:g.25005740G>A	ENSP00000371548:p.Ser324Phe						p.S324F	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			8	1070	-		Breast(46;0.173)	324			EAR 3.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.971C>T	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695711	0.68386	.	.	ENSG00000153012	ENST00000382114	T	0.79653	-1.29	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.87884	0.6290	L	0.51422	1.61	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	D	0.88067	0.2798	10	0.72032	D	0.01	-31.234	19.8769	0.96880	0.0:0.0:1.0:0.0	.	324	Q8N0V4	LGI2_HUMAN	F	324	ENSP00000371548:S324F	ENSP00000371548:S324F	S	-	2	0	LGI2	24614838	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.534000	0.73833	2.767000	0.95098	0.557000	0.71058	TCC		0.473	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1				120	78	0	0	0	0.01441	0	120	78		
SLC34A2	10568	broad.mit.edu	37	4	25664407	25664407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:25664407G>A	ENST00000382051.3	+	3	243	c.193G>A	c.(193-195)Gag>Aag	p.E65K	SLC34A2_ENST00000503434.1_Missense_Mutation_p.E64K|SLC34A2_ENST00000504570.1_Missense_Mutation_p.E64K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	65					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGAGCCCACTGAGGTGGATGA	0.517			T	ROS1	NSCLC																																	uc003grr.2		NaN		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					0				skin(3)|ovary(1)|kidney(1)	5						c.(193-195)GAG>AAG		solute carrier family 34 (sodium phosphate),							103.0	97.0	99.0					4																	25664407		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25664407G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.193G>A	4.37:g.25664407G>A	ENSP00000371483:p.Glu65Lys					SLC34A2_uc003grs.2_Missense_Mutation_p.E64K|SLC34A2_uc010iev.2_Missense_Mutation_p.E64K	p.E65K	NM_006424	NP_006415	O95436	NPT2B_HUMAN			3	274	+		Breast(46;0.0503)	65			Cytoplasmic (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.193G>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269392	0.40095	.	.	ENSG00000157765	ENST00000513204;ENST00000504570;ENST00000382051;ENST00000503434;ENST00000507530	T;T;T;T;T	0.56941	0.43;1.88;1.88;1.88;0.43	5.45	2.53	0.30540	.	0.557772	0.14875	N	0.293318	T	0.45816	0.1361	L	0.38531	1.155	0.09310	N	1	B;B	0.15141	0.012;0.004	B;B	0.16289	0.015;0.007	T	0.42103	-0.9471	10	0.49607	T	0.09	-5.7154	16.8709	0.86040	0.0:0.4715:0.5285:0.0	.	64;65	O95436-2;O95436	.;NPT2B_HUMAN	K	64;64;65;64;65	ENSP00000423038:E64K;ENSP00000425501:E64K;ENSP00000371483:E65K;ENSP00000423021:E64K;ENSP00000424266:E65K	ENSP00000371483:E65K	E	+	1	0	SLC34A2	25273505	0.011000	0.17503	0.001000	0.08648	0.274000	0.26718	1.291000	0.33330	0.632000	0.30432	0.650000	0.86243	GAG		0.517	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1		NM_006424		103	64	0	0	0	0.01441	0	103	64		
TBC1D19	55296	broad.mit.edu	37	4	26750122	26750122	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:26750122G>A	ENST00000264866.4	+	19	1687	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E	TBC1D19_ENST00000511789.1_Missense_Mutation_p.G405E	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	470	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AGAATCCTAGGATACAACTCT	0.383																																						uc003gsf.3		NaN																	0				breast(1)	1						c.(1408-1410)GGA>GAA		TBC1 domain family, member 19							127.0	127.0	127.0					4																	26750122		2203	4300	6503	SO:0001583	missense	55296					intracellular	Rab GTPase activator activity	g.chr4:26750122G>A	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1409G>A	4.37:g.26750122G>A	ENSP00000264866:p.Gly470Glu					TBC1D19_uc010iew.2_Missense_Mutation_p.G470E|TBC1D19_uc011bxu.1_Missense_Mutation_p.G405E	p.G470E	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN			19	1679	+		Breast(46;0.0503)	470			Rab-GAP TBC.		B9A6M0|Q9NUX1	Missense_Mutation	SNP	ENST00000264866.4	37	c.1409G>A	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950644	0.92660	.	.	ENSG00000109680	ENST00000264866;ENST00000511789	T;T	0.22336	1.96;1.96	5.83	5.83	0.93111	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.979;0.999;0.999	T	0.50923	-0.8770	10	0.66056	D	0.02	-16.1203	20.1099	0.97909	0.0:0.0:1.0:0.0	.	405;470;470	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	E	470;405	ENSP00000264866:G470E;ENSP00000425569:G405E	ENSP00000264866:G470E	G	+	2	0	TBC1D19	26359220	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.230000	0.95299	2.753000	0.94483	0.585000	0.79938	GGA		0.383	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2		NM_018317		65	132	0	0	0	0.01441	0	65	132		
WDR19	57728	broad.mit.edu	37	4	39271675	39271675	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:39271675G>C	ENST00000399820.3	+	31	3592	c.3438G>C	c.(3436-3438)gaG>gaC	p.E1146D	WDR19_ENST00000288634.7_Missense_Mutation_p.E986D	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1146					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TTCCCTCCGAGATGGCCACCA	0.463																																						uc003gtv.2		NaN																	0				large_intestine(1)	1						c.(3436-3438)GAG>GAC		WD repeat domain 19							128.0	119.0	122.0					4																	39271675		1927	4143	6070	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39271675G>C	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3438G>C	4.37:g.39271675G>C	ENSP00000382717:p.Glu1146Asp					WDR19_uc011byi.1_Missense_Mutation_p.E986D|WDR19_uc003gtw.1_Missense_Mutation_p.E743D	p.E1146D	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			31	3592	+			1146					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.3438G>C	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514963	0.44763	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.66460	-0.19;-0.21	5.48	2.8	0.32819	.	0.045126	0.85682	D	0.000000	T	0.55893	0.1949	L	0.39566	1.225	0.49213	D	0.999761	B	0.22276	0.067	B	0.29353	0.101	T	0.45264	-0.9273	10	0.35671	T	0.21	-22.9519	9.1547	0.36985	0.4317:0.0:0.5683:0.0	.	1146	Q8NEZ3	WDR19_HUMAN	D	1146;986	ENSP00000382717:E1146D;ENSP00000288634:E986D	ENSP00000288634:E986D	E	+	3	2	WDR19	38948070	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.824000	0.48088	0.270000	0.21984	0.563000	0.77884	GAG		0.463	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1				19	58	0	0	0	0.006122	0	19	58		
WDR19	57728	broad.mit.edu	37	4	39278656	39278656	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:39278656G>A	ENST00000399820.3	+	34	3887	c.3733G>A	c.(3733-3735)Gag>Aag	p.E1245K	WDR19_ENST00000288634.7_Missense_Mutation_p.E1085K	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1245					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						CGATATATCTGAGATAGAAGA	0.418																																						uc003gtv.2		NaN																	0				large_intestine(1)	1						c.(3733-3735)GAG>AAG		WD repeat domain 19							162.0	155.0	157.0					4																	39278656		1854	4117	5971	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39278656G>A	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3733G>A	4.37:g.39278656G>A	ENSP00000382717:p.Glu1245Lys					WDR19_uc011byi.1_Missense_Mutation_p.E1085K	p.E1245K	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			34	3887	+			1245					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.3733G>A	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459574	0.84317	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.68331	-0.32;-0.3	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.79123	2.44	0.80722	D	1	D	0.55172	0.97	P	0.49528	0.614	T	0.79916	-0.1601	10	0.72032	D	0.01	-23.4029	19.4889	0.95042	0.0:0.0:1.0:0.0	.	1245	Q8NEZ3	WDR19_HUMAN	K	1245;1085	ENSP00000382717:E1245K;ENSP00000288634:E1085K	ENSP00000288634:E1085K	E	+	1	0	WDR19	38955051	1.000000	0.71417	0.955000	0.39395	0.170000	0.22686	8.746000	0.91604	2.705000	0.92388	0.585000	0.79938	GAG		0.418	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1				31	94	0	0	0	0.013726	0	31	94		
KLB	152831	broad.mit.edu	37	4	39448203	39448203	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:39448203C>T	ENST00000257408.4	+	4	1954	c.1857C>T	c.(1855-1857)gcC>gcT	p.A619A		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	619	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ACCGACAGGCCCTGAGGTACT	0.597																																						uc003gua.2		NaN																	0				skin(1)	1						c.(1855-1857)GCC>GCT		klotho beta							91.0	88.0	89.0					4																	39448203		2203	4300	6503	SO:0001819	synonymous_variant	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448203C>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1857C>T	4.37:g.39448203C>T						KLB_uc011byj.1_Silent_p.A610A	p.A619A	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			4	1954	+			619			Extracellular (Potential).|Glycosyl hydrolase-1 2.		Q2M3K8	Silent	SNP	ENST00000257408.4	37	c.1857C>T	CCDS3451.1																																																																																				0.597	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1		NM_175737		13	52	0	0	0	0.001855	0	13	52		
PDS5A	23244	broad.mit.edu	37	4	39978093	39978093	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:39978093C>T	ENST00000303538.8	-	2	644	c.105G>A	c.(103-105)aaG>aaA	p.K35K	PDS5A_ENST00000503396.1_Silent_p.K35K	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CCGTGGTGATCTTGTCGGTGA	0.557											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003guv.3		NaN																	0					0						c.(103-105)AAG>AAA		PDS5, regulator of cohesion maintenance, homolog							168.0	177.0	174.0					4																	39978093		1975	4166	6141	SO:0001819	synonymous_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39978093C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.105G>A	4.37:g.39978093C>T			OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890	PDS5A_uc010ifo.2_5'UTR|PDS5A_uc003guw.3_Silent_p.K35K	p.K35K	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			2	645	-			35						Silent	SNP	ENST00000303538.8	37	c.105G>A	CCDS47045.1																																																																																				0.557	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1		NM_015200		64	84	0	0	0	0.01441	0	64	84		
N4BP2	55728	broad.mit.edu	37	4	40103906	40103906	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40103906G>A	ENST00000261435.6	+	4	857	c.441G>A	c.(439-441)caG>caA	p.Q147Q		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	147					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CCTTAATACAGAATGCTTTTG	0.333																																						uc003guy.3		NaN																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(439-441)CAG>CAA		Nedd4 binding protein 2							78.0	76.0	77.0					4																	40103906		2203	4300	6503	SO:0001819	synonymous_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40103906G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.441G>A	4.37:g.40103906G>A						N4BP2_uc010ifq.2_Silent_p.Q67Q|N4BP2_uc010ifr.2_Silent_p.Q67Q	p.Q147Q	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			4	779	+			147			Potential.		A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	37	c.441G>A	CCDS3457.1																																																																																				0.333	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		NM_018177		27	87	0	0	0	0.004656	0	27	87		
N4BP2	55728	broad.mit.edu	37	4	40123254	40123254	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40123254C>T	ENST00000261435.6	+	9	3939	c.3523C>T	c.(3523-3525)Cct>Tct	p.P1175S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1175					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.P1175T(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTCTAATTCTCCTGTGCCAGA	0.418																																						uc003guy.3		NaN																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(3523-3525)CCT>TCT		Nedd4 binding protein 2							64.0	68.0	66.0					4																	40123254		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123254C>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3523C>T	4.37:g.40123254C>T	ENSP00000261435:p.Pro1175Ser					N4BP2_uc010ifq.2_Missense_Mutation_p.P1095S|N4BP2_uc010ifr.2_Missense_Mutation_p.P1095S	p.P1175S	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	3861	+			1175					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3523C>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.001|0.001	-3.194850|-3.194850	0.00026|0.00026	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|T	0.14391|0.35048	2.51|1.33	5.34|5.34	-0.0714|-0.0714	0.13743|0.13743	.|.	1.053820|.	0.07346|.	N|.	0.881524|.	T|T	0.07188|0.07188	0.0182|0.0182	N|N	0.00289|0.00289	-1.7|-1.7	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.30475|0.30475	-0.9977|-0.9977	10|7	0.07813|0.26408	T|T	0.8|0.33	-1.7215|-1.7215	0.6135|0.6135	0.00765|0.00765	0.4056:0.1787:0.1203:0.2954|0.4056:0.1787:0.1203:0.2954	.|.	1175;1175|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	S|F	1175;1095|821	ENSP00000261435:P1175S|ENSP00000426430:S821F	ENSP00000261435:P1175S|ENSP00000426430:S821F	P|S	+|+	1|2	0|0	N4BP2|N4BP2	39799649|39799649	0.000000|0.000000	0.05858|0.05858	0.069000|0.069000	0.20011|0.20011	0.005000|0.005000	0.04900|0.04900	-0.012000|-0.012000	0.12699|0.12699	0.400000|0.400000	0.25396|0.25396	-0.471000|-0.471000	0.05019|0.05019	CCT|TCC		0.418	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		NM_018177		36	82	0	0	0	0.003271	0	36	82		
N4BP2	55728	broad.mit.edu	37	4	40144375	40144375	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40144375G>A	ENST00000261435.6	+	15	5284	c.4868G>A	c.(4867-4869)aGa>aAa	p.R1623K		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1623					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GATGACTACAGAGCAGAGGCT	0.413																																						uc003guy.3		NaN																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(4867-4869)AGA>AAA		Nedd4 binding protein 2							107.0	105.0	106.0					4																	40144375		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40144375G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4868G>A	4.37:g.40144375G>A	ENSP00000261435:p.Arg1623Lys					N4BP2_uc010ifq.2_Missense_Mutation_p.R1543K|N4BP2_uc010ifr.2_Missense_Mutation_p.R1526K	p.R1623K	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			15	5206	+			1623					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.4868G>A	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933642	0.92458	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.45276	0.9	5.38	5.38	0.77491	Domain of unknown function DUF1771 (1);	0.119171	0.51477	D	0.000095	T	0.70298	0.3208	M	0.84683	2.71	0.50467	D	0.999874	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.75513	-0.3291	10	0.87932	D	0	-13.2366	19.1309	0.93406	0.0:0.0:1.0:0.0	.	1606;1623	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	K	1623;1543	ENSP00000261435:R1623K	ENSP00000261435:R1623K	R	+	2	0	N4BP2	39820770	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	9.156000	0.94705	2.520000	0.84964	0.462000	0.41574	AGA		0.413	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		NM_018177		28	91	0	0	0	0.007291	0	28	91		
RHOH	399	broad.mit.edu	37	4	40245409	40245409	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40245409G>A	ENST00000381799.5	+	3	1127	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	RHOH_ENST00000505618.1_Missense_Mutation_p.E135K	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	135					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CAATGCCATGGAAGGGAAGAA	0.612																																						uc003guz.2		NaN																	0				ovary(1)|lung(1)	2						c.(403-405)GAA>AAA		ras homolog gene family, member H precursor							51.0	54.0	53.0					4																	40245409		2203	4300	6503	SO:0001583	missense	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245409G>A	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.403G>A	4.37:g.40245409G>A	ENSP00000371219:p.Glu135Lys						p.E135K	NM_004310	NP_004301	Q15669	RHOH_HUMAN			3	1127	+			135						Missense_Mutation	SNP	ENST00000381799.5	37	c.403G>A	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	10.97	1.502430	0.26949	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.78595	-1.19;-1.19	5.92	5.09	0.68999	Small GTP-binding protein domain (1);	0.401165	0.28589	N	0.014811	T	0.69557	0.3124	L	0.38649	1.16	0.46901	D	0.999245	B	0.19583	0.037	B	0.22880	0.042	T	0.67369	-0.5688	10	0.66056	D	0.02	.	11.5773	0.50869	0.0671:0.1246:0.8083:0.0	.	135	Q15669	RHOH_HUMAN	K	135	ENSP00000425010:E135K;ENSP00000371219:E135K	ENSP00000371219:E135K	E	+	1	0	RHOH	39921804	1.000000	0.71417	0.460000	0.27093	0.086000	0.17979	5.112000	0.64634	1.520000	0.48965	-0.224000	0.12420	GAA		0.612	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3		NM_004310		15	41	0	0	0	0.004007	0	15	41		
CHRNA9	55584	broad.mit.edu	37	4	40350954	40350954	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40350954G>A	ENST00000310169.2	+	4	560	c.421G>A	c.(421-423)Ggg>Agg	p.G141R		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	141					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	GCGGTATGATGGGCTGATCAC	0.507																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	uc003gva.1		NaN																	0				breast(3)|skin(3)|central_nervous_system(1)	7						c.(421-423)GGG>AGG		cholinergic receptor, nicotinic, alpha 9	Nicotine(DB00184)						165.0	152.0	156.0					4																	40350954		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40350954G>A	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.421G>A	4.37:g.40350954G>A	ENSP00000312663:p.Gly141Arg						p.G141R	NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN			4	437	+			141			Extracellular (Potential).		Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.421G>A	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856624	0.91355	.	.	ENSG00000174343	ENST00000310169	D	0.97404	-4.37	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99221	0.9729	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98698	1.0699	10	0.87932	D	0	.	18.6875	0.91570	0.0:0.0:1.0:0.0	.	141	Q9UGM1	ACHA9_HUMAN	R	141	ENSP00000312663:G141R	ENSP00000312663:G141R	G	+	1	0	CHRNA9	40045711	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	9.869000	0.99810	2.511000	0.84671	0.561000	0.74099	GGG		0.507	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1				29	117	0	0	0	0.007291	0	29	117		
GABRG1	2565	broad.mit.edu	37	4	46053535	46053535	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:46053535G>A	ENST00000295452.4	-	8	1204	c.1037C>T	c.(1036-1038)gCa>gTa	p.A346V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	346					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATCAAGGCTGCAAAAACAAA	0.373																																						uc003gxb.2		NaN																	0				ovary(2)	2						c.(1036-1038)GCA>GTA		gamma-aminobutyric acid A receptor, gamma 1							97.0	87.0	90.0					4																	46053535		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46053535G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1037C>T	4.37:g.46053535G>A	ENSP00000295452:p.Ala346Val						p.A346V	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	8	1189	-			346			Helical; (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1037C>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399192	0.96030	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.86164	-2.08	5.64	5.64	0.86602	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	M	0.82823	2.61	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	D	0.94083	0.7346	10	0.66056	D	0.02	.	18.7036	0.91630	0.0:0.0:1.0:0.0	.	346	Q8N1C3	GBRG1_HUMAN	V	346	ENSP00000295452:A346V	ENSP00000295452:A346V	A	-	2	0	GABRG1	45748292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.664000	0.90586	0.655000	0.94253	GCA		0.373	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1		NM_173536		16	43	0	0	0	0.003163	0	16	43		
ATP10D	57205	broad.mit.edu	37	4	47565643	47565643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:47565643C>T	ENST00000273859.3	+	15	2983	c.2714C>T	c.(2713-2715)tCt>tTt	p.S905F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	905					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S905F(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GTCCCTGAATCTATAGAAGCT	0.473																																						uc003gxk.1		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(2)|pancreas(1)	3						c.(2713-2715)TCT>TTT		ATPase, class V, type 10D							107.0	94.0	98.0					4																	47565643		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47565643C>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2714C>T	4.37:g.47565643C>T	ENSP00000273859:p.Ser905Phe					ATP10D_uc003gxl.1_Missense_Mutation_p.S153F	p.S905F	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			15	2878	+			905			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.2714C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689578	0.88735	.	.	ENSG00000145246	ENST00000273859	D	0.92965	-3.14	5.21	5.21	0.72293	HAD-like domain (2);	0.225081	0.44688	D	0.000425	D	0.94922	0.8358	M	0.85099	2.735	0.80722	D	1	P	0.45531	0.86	P	0.50162	0.633	D	0.95572	0.8639	10	0.87932	D	0	-11.4702	17.9238	0.88976	0.0:1.0:0.0:0.0	.	905	Q9P241	AT10D_HUMAN	F	905	ENSP00000273859:S905F	ENSP00000273859:S905F	S	+	2	0	ATP10D	47260400	1.000000	0.71417	0.995000	0.50966	0.952000	0.60782	7.320000	0.79064	2.712000	0.92718	0.585000	0.79938	TCT		0.473	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1		NM_020453		15	50	0	0	0	0.00245	0	15	50		
ATP10D	57205	broad.mit.edu	37	4	47578955	47578955	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:47578955C>G	ENST00000273859.3	+	19	3801	c.3532C>G	c.(3532-3534)Ctg>Gtg	p.L1178V		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1178					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCTCATGCAACTGCCTGAACT	0.438																																						uc003gxk.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(3532-3534)CTG>GTG		ATPase, class V, type 10D							125.0	113.0	117.0					4																	47578955		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47578955C>G	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3532C>G	4.37:g.47578955C>G	ENSP00000273859:p.Leu1178Val					ATP10D_uc003gxl.1_Missense_Mutation_p.L426V	p.L1178V	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			19	3696	+			1178			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3532C>G	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314984	0.23908	.	.	ENSG00000145246	ENST00000273859	T	0.69306	-0.39	5.21	3.5	0.40072	.	0.166560	0.41712	D	0.000833	T	0.40067	0.1102	N	0.11427	0.14	0.80722	D	1	B	0.29590	0.25	B	0.25291	0.059	T	0.12192	-1.0557	10	0.16420	T	0.52	-11.1523	7.4023	0.26971	0.1355:0.7166:0.0:0.1479	.	1178	Q9P241	AT10D_HUMAN	V	1178	ENSP00000273859:L1178V	ENSP00000273859:L1178V	L	+	1	2	ATP10D	47273712	0.015000	0.18098	0.889000	0.34880	0.792000	0.44763	0.283000	0.18846	0.797000	0.33971	0.561000	0.74099	CTG		0.438	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1		NM_020453		29	119	0	0	0	0.00632	0	29	119		
SLAIN2	57606	broad.mit.edu	37	4	48422195	48422195	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:48422195C>T	ENST00000264313.6	+	7	1832	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	SLAIN2_ENST00000512093.1_Missense_Mutation_p.R305W	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	472					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TTTGGCTCTTCGGCAACCAGT	0.478																																						uc003gya.3		NaN																	0					0						c.(1414-1416)CGG>TGG		SLAIN motif family, member 2							91.0	87.0	88.0					4																	48422195		1982	4154	6136	SO:0001583	missense	57606					centrosome		g.chr4:48422195C>T	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1414C>T	4.37:g.48422195C>T	ENSP00000264313:p.Arg472Trp						p.R472W	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN			7	1558	+			472					A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	c.1414C>T	CCDS47051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.11|18.11	3.549759|3.549759	0.65311|0.65311	.|.	.|.	ENSG00000109171|ENSG00000109171	ENST00000264313;ENST00000512093|ENST00000510595	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.200603|.	0.41712|.	D|.	0.000832|.	T|T	0.74884|0.74884	0.3775|0.3775	M|M	0.77616|0.77616	2.38|2.38	0.54753|0.54753	D|D	0.999989|0.999989	D|.	0.76494|.	0.999|.	D|.	0.66196|.	0.942|.	T|T	0.76121|0.76121	-0.3075|-0.3075	9|5	0.87932|.	D|.	0|.	-8.4096|-8.4096	14.1092|14.1092	0.65111|0.65111	0.151:0.849:0.0:0.0|0.151:0.849:0.0:0.0	.|.	472|.	Q9P270|.	SLAI2_HUMAN|.	W|L	472;305|80	.|.	ENSP00000264313:R472W|.	R|S	+|+	1|2	2|0	SLAIN2|SLAIN2	48116952|48116952	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.716000|0.716000	0.41182|0.41182	3.511000|3.511000	0.53400|0.53400	2.346000|2.346000	0.79739|0.79739	0.557000|0.557000	0.71058|0.71058	CGG|TCG		0.478	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4		NM_020846		10	39	0	0	0	0.008291	0	10	39		
FRYL	285527	broad.mit.edu	37	4	48525073	48525073	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:48525073C>T	ENST00000503238.1	-	51	7365	c.7366G>A	c.(7366-7368)Gac>Aac	p.D2456N	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.D2456N|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.D2456N			O94915	FRYL_HUMAN	FRY-like	2456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCAATACTGTCCAGTGAGCGC	0.483																																						uc003gyh.1		NaN																	0				skin(1)	1						c.(7366-7368)GAC>AAC		furry-like							122.0	121.0	121.0					4																	48525073		1910	4136	6046	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48525073C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7366G>A	4.37:g.48525073C>T	ENSP00000426064:p.Asp2456Asn					FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Missense_Mutation_p.D1152N|FRYL_uc003gyi.1_Missense_Mutation_p.D1344N|FRYL_uc003gyj.1_Missense_Mutation_p.D751N	p.D2456N	NM_015030	NP_055845	O94915	FRYL_HUMAN			54	7971	-			2456					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7366G>A	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.616853|5.616853	0.96649|0.96649	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.24723|.	1.84;1.84;1.84|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.051034|.	0.85682|.	D|.	0.000000|.	T|T	0.72003|0.72003	0.3407|0.3407	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;D;D|.	0.65815|.	0.877;0.983;0.995|.	B;P;P|.	0.61800|.	0.411;0.786;0.894|.	T|T	0.67891|0.67891	-0.5553|-0.5553	10|5	0.36615|.	T|.	0.2|.	.|.	19.6584|19.6584	0.95853|0.95853	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1286;2456;2456|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	N|E	2456|1325	ENSP00000426064:D2456N;ENSP00000351113:D2456N;ENSP00000441114:D2456N|.	ENSP00000351113:D2456N|.	D|G	-|-	1|2	0|0	FRYL|FRYL	48219830|48219830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	7.818000|7.818000	0.86416|0.86416	2.645000|2.645000	0.89757|0.89757	0.460000|0.460000	0.39030|0.39030	GAC|GGA		0.483	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2				40	55	0	0	0	0.007835	0	40	55		
FRYL	285527	broad.mit.edu	37	4	48605373	48605373	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:48605373C>T	ENST00000503238.1	-	9	866	c.867G>A	c.(865-867)ttG>ttA	p.L289L	FRYL_ENST00000358350.4_Silent_p.L289L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000507711.1_Silent_p.L289L|FRYL_ENST00000537810.1_Silent_p.L289L			O94915	FRYL_HUMAN	FRY-like	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAAAATTTTTCAAACAGGGAA	0.289																																						uc003gyh.1		NaN																	0				skin(1)	1						c.(865-867)TTG>TTA		furry-like							67.0	63.0	64.0					4																	48605373		1811	4058	5869	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48605373C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.867G>A	4.37:g.48605373C>T						FRYL_uc003gyk.2_Silent_p.L289L	p.L289L	NM_015030	NP_055845	O94915	FRYL_HUMAN			12	1472	-			289					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.867G>A	CCDS43227.1																																																																																				0.289	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2				41	63	0	0	0	0.006999	0	41	63		
KIT	3815	broad.mit.edu	37	4	55524236	55524236	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:55524236C>T	ENST00000288135.5	+	1	152	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	19					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTACTGCTTCGCGTCCAGAC	0.667		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		0				soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(55-57)CGC>TGC		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						48.0	49.0	49.0					4																	55524236		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55524236C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.55C>T	4.37:g.55524236C>T	ENSP00000288135:p.Arg19Cys					KIT_uc010igs.2_Missense_Mutation_p.R19C	p.R19C	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	1	142	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		19					B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.55C>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	9.125	1.010078	0.19277	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.77750	-1.12;-1.12	3.46	-3.04	0.05412	Immunoglobulin-like fold (1);	1.856000	0.02949	U	0.141422	T	0.70465	0.3227	N	0.19112	0.55	0.09310	N	1	D;P	0.60160	0.987;0.923	P;B	0.50049	0.629;0.328	T	0.63251	-0.6679	10	0.39692	T	0.17	.	9.3433	0.38093	0.156:0.2279:0.6161:0.0	.	19;19	P10721-2;P10721	.;KIT_HUMAN	C	19	ENSP00000288135:R19C;ENSP00000390987:R19C	ENSP00000288135:R19C	R	+	1	0	KIT	55218993	0.076000	0.21285	0.075000	0.20258	0.024000	0.10985	-0.012000	0.12699	-0.427000	0.07350	0.313000	0.20887	CGC		0.667	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1				11	17	0	0	0	0.013537	0	11	17		
LPHN3	23284	broad.mit.edu	37	4	62813849	62813849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:62813849C>T	ENST00000514591.1	+	16	2785	c.2456C>T	c.(2455-2457)tCa>tTa	p.S819L	LPHN3_ENST00000511324.1_Missense_Mutation_p.S887L|LPHN3_ENST00000504896.1_Missense_Mutation_p.S819L|LPHN3_ENST00000507164.1_Missense_Mutation_p.S887L|LPHN3_ENST00000508693.1_Missense_Mutation_p.S887L|LPHN3_ENST00000512091.2_Missense_Mutation_p.S819L|LPHN3_ENST00000506746.1_Missense_Mutation_p.S887L|LPHN3_ENST00000507625.1_Missense_Mutation_p.S887L|LPHN3_ENST00000514157.1_Missense_Mutation_p.S819L|LPHN3_ENST00000506720.1_Missense_Mutation_p.S887L|LPHN3_ENST00000545650.1_Missense_Mutation_p.S819L|LPHN3_ENST00000514996.1_Missense_Mutation_p.S819L|LPHN3_ENST00000509896.1_Missense_Mutation_p.S887L|LPHN3_ENST00000506700.1_Missense_Mutation_p.S819L|LPHN3_ENST00000508946.1_Missense_Mutation_p.S819L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	806	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTAACTGTTCATTTTGGAGC	0.383																																						uc010ihh.2		NaN																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2455-2457)TCA>TTA		latrophilin 3 precursor							77.0	67.0	70.0					4																	62813849		1849	4098	5947	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813849C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2456C>T	4.37:g.62813849C>T	ENSP00000422533:p.Ser819Leu					LPHN3_uc003hcq.3_Missense_Mutation_p.S819L|LPHN3_uc003hct.2_Missense_Mutation_p.S212L	p.S819L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			14	2629	+			806			GPS.|Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2456C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340746	0.95783	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.98	5.98	0.97165	GPS domain (3);	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	L	0.49350	1.555	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.996	D;D;D	0.80764	0.994;0.994;0.99	T	0.78866	-0.2035	10	0.62326	D	0.03	.	20.5212	0.99222	0.0:1.0:0.0:0.0	.	819;806;819	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	L	819;819;887;887;819;819;806;819;887;887;887;819;819;819;887;887;819	ENSP00000423388:S819L;ENSP00000422533:S819L;ENSP00000423787:S887L;ENSP00000425033:S887L;ENSP00000424120:S819L;ENSP00000439831:S819L;ENSP00000421476:S887L;ENSP00000424030:S887L;ENSP00000421372:S887L;ENSP00000425201:S819L;ENSP00000423434:S819L;ENSP00000421627:S819L;ENSP00000420931:S887L;ENSP00000425884:S887L;ENSP00000424258:S819L	ENSP00000280009:S819L	S	+	2	0	LPHN3	62496444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.861000	0.98227	0.650000	0.86243	TCA		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1				7	26	0	0	0	0.00308	0	7	26		
TMPRSS11A	339967	broad.mit.edu	37	4	68784859	68784859	+	Missense_Mutation	SNP	C	C	T	rs368612521		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:68784859C>T	ENST00000334830.7	-	8	1539	c.793G>A	c.(793-795)Gag>Aag	p.E265K	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.E262K|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.E261K			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	265	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CGGTACTTCTCATGGATAATA	0.408																																					NSCLC(26;2 894 10941 14480 22546)	uc003hdr.1		NaN																	0				skin(1)	1						c.(793-795)GAG>AAG		transmembrane protease, serine 11A isoform 1		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	156.0	166.0	162.0		784,793	5.4	0.5	4		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TMPRSS11A	NM_001114387.1,NM_182606.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	262/419,265/422	68784859	1,13005	2203	4300	6503	SO:0001583	missense	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68784859C>T	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.793G>A	4.37:g.68784859C>T	ENSP00000334611:p.Glu265Lys					LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.E262K	p.E265K	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN			8	914	-			265			Peptidase S1.|Extracellular (Potential).		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	c.793G>A	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997913	0.54147	0.0	1.16E-4	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.36	5.36	0.76844	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000025	D	0.94162	0.8127	L	0.38838	1.175	0.39677	D	0.970846	D;D	0.63880	0.993;0.993	P;P	0.61477	0.889;0.852	D	0.95278	0.8383	10	0.87932	D	0	.	16.5682	0.84604	0.0:1.0:0.0:0.0	.	262;265	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	K	261;265;262;229	ENSP00000426911:E261K;ENSP00000334611:E265K;ENSP00000379491:E262K;ENSP00000427621:E229K	ENSP00000334611:E265K	E	-	1	0	TMPRSS11A	68467454	1.000000	0.71417	0.532000	0.27989	0.009000	0.06853	4.068000	0.57534	2.512000	0.84698	0.591000	0.81541	GAG		0.408	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3		NM_182606		60	74	0	0	0	0.01441	0	60	74		
AFM	173	broad.mit.edu	37	4	74350018	74350018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:74350018G>A	ENST00000226355.3	+	3	274	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	61	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCAACCTTTGAAGAAATGGA	0.403																																						uc003hhb.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(181-183)GAA>AAA		afamin precursor							110.0	109.0	109.0					4																	74350018		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74350018G>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.181G>A	4.37:g.74350018G>A	ENSP00000226355:p.Glu61Lys						p.E61K	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	212	+	Breast(15;0.00102)		61			Albumin 1.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.181G>A	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045078	0.55110	.	.	ENSG00000079557	ENST00000226355	T	0.51574	0.7	5.09	4.25	0.50352	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.210004	0.38436	N	0.001696	T	0.52917	0.1764	L	0.51853	1.615	0.27983	N	0.935971	D	0.56746	0.977	P	0.57425	0.82	T	0.45425	-0.9262	10	0.31617	T	0.26	.	9.5058	0.39046	0.0979:0.0:0.9021:0.0	.	61	P43652	AFAM_HUMAN	K	61	ENSP00000226355:E61K	ENSP00000226355:E61K	E	+	1	0	AFM	74568882	1.000000	0.71417	0.988000	0.46212	0.666000	0.39218	2.143000	0.42187	1.161000	0.42604	0.650000	0.86243	GAA		0.403	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2				25	69	0	0	0	0.00333	0	25	69		
RCHY1	25898	broad.mit.edu	37	4	76434446	76434446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:76434446G>A	ENST00000324439.5	-	2	549	c.151C>T	c.(151-153)Caa>Taa	p.Q51*	RCHY1_ENST00000513257.1_Nonsense_Mutation_p.Q51*|RCHY1_ENST00000514021.1_5'UTR|RCHY1_ENST00000380840.2_Intron|RCHY1_ENST00000512706.1_Nonsense_Mutation_p.Q29*|RCHY1_ENST00000451788.1_Nonsense_Mutation_p.Q51*	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	51					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CGATCTAGTTGATGATCTTCA	0.348																																						uc003hik.2		NaN																	0				pancreas(1)	1						c.(151-153)CAA>TAA		ring finger and CHY zinc finger domain							61.0	56.0	58.0					4																	76434446		2203	4299	6502	SO:0001587	stop_gained	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76434446G>A	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.151C>T	4.37:g.76434446G>A	ENSP00000321239:p.Gln51*					RCHY1_uc003hij.2_Nonsense_Mutation_p.Q51*|RCHY1_uc003hil.2_Nonsense_Mutation_p.Q51*|RCHY1_uc010iip.2_Nonsense_Mutation_p.Q51*|RCHY1_uc010iiq.2_RNA|RCHY1_uc010iir.2_Intron	p.Q51*	NM_015436	NP_056251	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		2	283	-			51			CHY-type.		B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Nonsense_Mutation	SNP	ENST00000324439.5	37	c.151C>T	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	G	37	6.046170	0.97231	.	.	ENSG00000163743	ENST00000324439;ENST00000451788;ENST00000512706;ENST00000513257	.	.	.	5.7	5.7	0.88788	.	0.327319	0.32703	N	0.005756	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-18.8939	12.3063	0.54904	0.0:0.0:0.8309:0.1691	.	.	.	.	X	51;51;29;51	.	ENSP00000321239:Q51X	Q	-	1	0	RCHY1	76653470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.732000	0.47352	2.681000	0.91329	0.650000	0.86243	CAA		0.348	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2		NM_015436		29	15	0	0	0	0.008361	0	29	15		
PPEF2	5470	broad.mit.edu	37	4	76781894	76781894	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:76781894C>T	ENST00000286719.7	-	17	2544	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	730					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCATCGCCCTCTGGGCAGGAT	0.507																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2		NaN																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2188-2190)GAG>AAG		serine/threonine protein phosphatase with							84.0	73.0	77.0					4																	76781894		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76781894C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.2188G>A	4.37:g.76781894C>T	ENSP00000286719:p.Glu730Lys					PPEF2_uc003hiy.2_RNA	p.E730K	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		17	2545	-			730					O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.2188G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775045	0.49786	.	.	ENSG00000156194	ENST00000286719	T	0.42513	0.97	6.07	4.33	0.51752	EF-hand-like domain (1);	0.532636	0.19450	N	0.113957	T	0.23094	0.0558	N	0.08118	0	0.22171	N	0.999314	B	0.09022	0.002	B	0.10450	0.005	T	0.15809	-1.0424	10	0.30078	T	0.28	-20.4378	10.5694	0.45192	0.0:0.7941:0.133:0.0728	.	730	O14830	PPE2_HUMAN	K	730	ENSP00000286719:E730K	ENSP00000286719:E730K	E	-	1	0	PPEF2	77000918	0.001000	0.12720	0.028000	0.17463	0.006000	0.05464	0.790000	0.26900	0.882000	0.36016	0.655000	0.94253	GAG		0.507	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1		NM_006239		24	48	0	0	0	0.00278	0	24	48		
PPEF2	5470	broad.mit.edu	37	4	76782018	76782018	+	Missense_Mutation	SNP	C	C	T	rs148045586		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:76782018C>T	ENST00000286719.7	-	17	2420	c.2064G>A	c.(2062-2064)atG>atA	p.M688I		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	688					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.M688I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTCGATATTCATGTGAGAGC	0.453																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2062-2064)ATG>ATA		serine/threonine protein phosphatase with		C	ILE/MET	1,4405	2.1+/-5.4	0,1,2202	126.0	114.0	118.0		2064	6.1	0.9	4	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPEF2	NM_006239.2	10	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	688/754	76782018	2,13004	2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76782018C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.2064G>A	4.37:g.76782018C>T	ENSP00000286719:p.Met688Ile					PPEF2_uc003hiy.2_RNA	p.M688I	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		17	2421	-			688					O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.2064G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880548	0.17467	2.27E-4	1.16E-4	ENSG00000156194	ENST00000286719	T	0.40476	1.03	6.07	6.07	0.98685	EF-hand-like domain (1);	0.056756	0.85682	D	0.000000	T	0.29321	0.0730	L	0.39397	1.21	0.37689	D	0.923772	P	0.45126	0.851	B	0.34418	0.182	T	0.19031	-1.0318	10	0.27082	T	0.32	-9.1422	11.4039	0.49885	0.0:0.9189:0.0:0.0811	.	688	O14830	PPE2_HUMAN	I	688	ENSP00000286719:M688I	ENSP00000286719:M688I	M	-	3	0	PPEF2	77001042	1.000000	0.71417	0.852000	0.33557	0.061000	0.15899	0.981000	0.29526	2.884000	0.98904	0.655000	0.94253	ATG		0.453	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1		NM_006239		25	84	0	0	0	0.00333	0	25	84		
SDAD1	55153	broad.mit.edu	37	4	76895235	76895235	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:76895235G>A	ENST00000356260.5	-	7	748	c.630C>T	c.(628-630)gtC>gtT	p.V210V	SDAD1_ENST00000513089.1_5'Flank|SDAD1_ENST00000395711.4_Silent_p.V173V	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	210					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCACCTTGGTGACCTTAGAGA	0.418																																						uc003hje.3		NaN																	0				ovary(1)	1						c.(628-630)GTC>GTT		SDA1 domain containing 1							198.0	164.0	175.0					4																	76895235		2203	4300	6503	SO:0001819	synonymous_variant	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76895235G>A	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.630C>T	4.37:g.76895235G>A						SDAD1_uc003hjf.3_Silent_p.V113V|SDAD1_uc011cbr.1_Silent_p.V173V	p.V210V	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		7	749	-			210					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Silent	SNP	ENST00000356260.5	37	c.630C>T	CCDS3573.2																																																																																				0.418	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3		NM_018115		24	65	0	0	0	0.00333	0	24	65		
SCARB2	950	broad.mit.edu	37	4	77100813	77100813	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:77100813C>T	ENST00000264896.2	-	4	818	c.469G>A	c.(469-471)Gag>Aag	p.E157K	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	157	Important for interaction with GBA.				cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			AACATGGCCTCGATGATCTCC	0.498											OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003hju.1		NaN																	0					0						c.(469-471)GAG>AAG		scavenger receptor class B, member 2							210.0	197.0	201.0					4																	77100813		2203	4300	6503	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77100813C>T	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.469G>A	4.37:g.77100813C>T	ENSP00000264896:p.Glu157Lys		OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1173	SCARB2_uc011cbu.1_Intron	p.E157K	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Lung(101;0.196)		4	808	-			157			Lumenal (Potential).		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.469G>A	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215508	0.39102	.	.	ENSG00000138760	ENST00000264896	T	0.71817	-0.6	5.95	3.29	0.37713	.	0.373665	0.33712	N	0.004639	T	0.61999	0.2392	M	0.67953	2.075	0.80722	D	1	P	0.43973	0.823	B	0.40982	0.345	T	0.58578	-0.7612	10	0.08599	T	0.76	.	7.6888	0.28557	0.0:0.715:0.1356:0.1494	.	157	Q14108	SCRB2_HUMAN	K	157	ENSP00000264896:E157K	ENSP00000264896:E157K	E	-	1	0	SCARB2	77319837	0.001000	0.12720	0.994000	0.49952	0.716000	0.41182	0.671000	0.25172	0.405000	0.25532	-0.136000	0.14681	GAG		0.498	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1		NM_005506		136	113	0	0	0	0.01441	0	136	113		
SHROOM3	57619	broad.mit.edu	37	4	77660886	77660886	+	Silent	SNP	G	G	A	rs371132048		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:77660886G>A	ENST00000296043.6	+	5	2513	c.1560G>A	c.(1558-1560)caG>caA	p.Q520Q		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	520					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGGGAACCAGAATGGATCTG	0.532																																						uc011cbx.1		NaN																	0				skin(2)|ovary(1)	3						c.(1558-1560)CAG>CAA		shroom family member 3 protein							128.0	128.0	128.0					4																	77660886		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660886G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1560G>A	4.37:g.77660886G>A						SHROOM3_uc011cbz.1_Silent_p.Q344Q|SHROOM3_uc003hkf.1_Silent_p.Q395Q|SHROOM3_uc003hkg.2_Silent_p.Q298Q	p.Q520Q	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	2513	+			520					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.1560G>A	CCDS3579.2																																																																																				0.532	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2		NM_020859		64	48	0	0	0	0.01441	0	64	48		
PRDM8	56978	broad.mit.edu	37	4	81123465	81123465	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:81123465C>T	ENST00000504452.1	+	8	1688	c.849C>T	c.(847-849)ctC>ctT	p.L283L	PRDM8_ENST00000339711.4_Silent_p.L283L|PRDM8_ENST00000415738.2_Silent_p.L283L			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	283	Gly-rich.|Ser-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCCAGAGCCTCAgcagcggta	0.701											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010ijo.2		NaN																	0				skin(1)	1						c.(847-849)CTC>CTT		PR domain containing 8							9.0	12.0	11.0					4																	81123465		1521	3546	5067	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123465C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.849C>T	4.37:g.81123465C>T			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_uc003hmb.3_Silent_p.L283L|PRDM8_uc003hmc.3_Silent_p.L283L	p.L283L	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN			8	1688	+			283			Gly-rich.|Ser-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.849C>T	CCDS43243.1																																																																																				0.701	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1				4	8	0	0	0	0.009096	0	4	8		
TMEM150C	441027	broad.mit.edu	37	4	83406710	83406710	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:83406710G>A	ENST00000515780.2	-	8	908	c.704C>T	c.(703-705)tCa>tTa	p.S235L	TMEM150C_ENST00000449862.2_Missense_Mutation_p.S235L			B9EJG8	T150C_HUMAN	transmembrane protein 150C	235						integral component of membrane (GO:0016021)				ovary(1)	1						CAGGCTTTCTGAGAAGCTTAG	0.493																																						uc003hmy.1		NaN																	0				ovary(1)	1						c.(703-705)TCA>TTA		transmembrane protein 150C							47.0	46.0	47.0					4																	83406710		1866	4110	5976	SO:0001583	missense	441027					integral to membrane		g.chr4:83406710G>A	BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.704C>T	4.37:g.83406710G>A	ENSP00000420919:p.Ser235Leu					TMEM150C_uc011ccj.1_Missense_Mutation_p.S265L	p.S235L	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN			8	782	-			235					B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	ENST00000515780.2	37	c.704C>T	CCDS47087.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635810	0.87760	.	.	ENSG00000249242	ENST00000449862;ENST00000515780	T;T	0.47869	0.83;0.83	5.28	5.28	0.74379	.	.	.	.	.	T	0.55226	0.1907	N	0.19112	0.55	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.59010	-0.7534	9	0.51188	T	0.08	-4.9521	18.9045	0.92455	0.0:0.0:1.0:0.0	.	235	B9EJG8	T150C_HUMAN	L	235	ENSP00000403438:S235L;ENSP00000420919:S235L	ENSP00000403438:S235L	S	-	2	0	TMEM150C	83625734	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.513000	0.90542	2.446000	0.82766	0.462000	0.41574	TCA		0.493	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2		NM_001080506		9	12	0	0	0	0.004482	0	9	12		
WDFY3	23001	broad.mit.edu	37	4	85672802	85672802	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:85672802C>G	ENST00000295888.4	-	36	6214	c.5807G>C	c.(5806-5808)gGg>gCg	p.G1936A	WDFY3_ENST00000322366.6_Missense_Mutation_p.G1936A	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1936					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTGTTCATCCCTGTGTCTGC	0.443																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(5806-5808)GGG>GCG		WD repeat and FYVE domain containing 3 isoform							183.0	165.0	171.0					4																	85672802		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85672802C>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5807G>C	4.37:g.85672802C>G	ENSP00000295888:p.Gly1936Ala						p.G1936A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	36	6215	-		Hepatocellular(203;0.114)	1936					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.5807G>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214955	0.39102	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63580	-0.05;-0.05	5.78	5.78	0.91487	.	0.047648	0.85682	D	0.000000	T	0.48926	0.1527	N	0.22421	0.69	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.46484	-0.9188	10	0.08599	T	0.76	.	19.9997	0.97405	0.0:1.0:0.0:0.0	.	1936	Q8IZQ1	WDFY3_HUMAN	A	1936	ENSP00000318466:G1936A;ENSP00000295888:G1936A	ENSP00000295888:G1936A	G	-	2	0	WDFY3	85891826	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.484000	0.81180	2.717000	0.92951	0.585000	0.79938	GGG		0.443	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		28	142	0	0	0	0.007291	0	28	142		
PTPN13	5783	broad.mit.edu	37	4	87653921	87653921	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:87653921T>C	ENST00000411767.2	+	12	1921		c.e12+2		PTPN13_ENST00000427191.2_Splice_Site|PTPN13_ENST00000511467.1_Splice_Site|PTPN13_ENST00000436978.1_Splice_Site|PTPN13_ENST00000316707.6_Splice_Site			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCCTCAAAGGTACCAAGACAT	0.358																																						uc003hpz.2		NaN																	0				ovary(4)|breast(1)|kidney(1)	6						c.e12+2		protein tyrosine phosphatase, non-receptor type							87.0	79.0	81.0					4																	87653921		1887	4112	5999	SO:0001630	splice_region_variant	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87653921T>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1858+2T>C	4.37:g.87653921T>C						PTPN13_uc003hpy.2_Splice_Site_p.D620_splice|PTPN13_uc003hqa.2_Splice_Site_p.D620_splice|PTPN13_uc003hqb.2_Splice_Site_p.D620_splice	p.D620_splice	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	12	2338	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)						B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Splice_Site	SNP	ENST00000411767.2	37	c.1858_splice	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029318	0.35797	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.21	0.73214	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPN13	87872945	1.000000	0.71417	0.992000	0.48379	0.028000	0.11728	8.015000	0.88690	1.986000	0.57962	0.460000	0.39030	.		0.358	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			Intron	15	19	0	0	0	0.00245	0	15	19		
BMPR1B	658	broad.mit.edu	37	4	96051059	96051059	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:96051059G>A	ENST00000515059.1	+	9	915	c.632G>A	c.(631-633)gGa>gAa	p.G211E	BMPR1B_ENST00000264568.4_Missense_Mutation_p.G211E|BMPR1B_ENST00000394931.1_Missense_Mutation_p.G211E|BMPR1B_ENST00000440890.2_Missense_Mutation_p.G241E	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AAACAGATTGGAAAAGGTCGC	0.458																																						uc003htm.3		NaN																	0				lung(4)|skin(2)|stomach(1)|breast(1)	8						c.(631-633)GGA>GAA		bone morphogenetic protein receptor, type IB							129.0	139.0	135.0					4																	96051059		2203	4300	6503	SO:0001583	missense	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96051059G>A	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.632G>A	4.37:g.96051059G>A	ENSP00000426617:p.Gly211Glu					BMPR1B_uc010ilb.2_Missense_Mutation_p.G211E|BMPR1B_uc003htn.3_Missense_Mutation_p.G211E	p.G211E	NM_001203	NP_001194	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	9	906	+		Hepatocellular(203;0.114)	211			ATP (By similarity).|Cytoplasmic (Potential).|Protein kinase.		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	c.632G>A	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648194	0.87958	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.69	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94601	0.8260	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96636	0.9470	10	0.87932	D	0	.	16.0465	0.80724	0.0:0.0:0.8646:0.1353	.	211	O00238	BMR1B_HUMAN	E	211;211;211;241;211;211	ENSP00000426617:G211E;ENSP00000425444:G211E;ENSP00000421671:G211E;ENSP00000401907:G241E;ENSP00000264568:G211E;ENSP00000378389:G211E	ENSP00000264568:G211E	G	+	2	0	BMPR1B	96270082	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.806000	0.99153	1.394000	0.46624	0.552000	0.68991	GGA		0.458	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3		NM_001203		14	27	0	0	0	0.003163	0	14	27		
UNC5C	8633	broad.mit.edu	37	4	96199421	96199421	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:96199421G>A	ENST00000453304.1	-	4	931	c.583C>T	c.(583-585)Cca>Tca	p.P195S	UNC5C_ENST00000504962.1_Missense_Mutation_p.P195S|UNC5C_ENST00000506749.1_Missense_Mutation_p.P195S	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	195	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCAGCCACTGGGATCCCTTCA	0.453																																						uc003htp.1		NaN																	0				ovary(3)|pancreas(1)	4						c.(583-585)CCA>TCA		unc5C precursor							142.0	128.0	133.0					4																	96199421		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96199421G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.583C>T	4.37:g.96199421G>A	ENSP00000406022:p.Pro195Ser					UNC5C_uc010ilc.1_Missense_Mutation_p.P195S|UNC5C_uc003htq.2_Missense_Mutation_p.P195S	p.P195S	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	4	737	-		Hepatocellular(203;0.114)	195			Extracellular (Potential).|Ig-like C2-type.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.583C>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667594	0.88348	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	0.976;1.0;0.997	D;D;D	0.91635	0.912;0.999;0.995	D	0.91885	0.5519	10	0.87932	D	0	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	195;195;195	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	S	195;154;195;195;195	ENSP00000406022:P195S;ENSP00000426924:P195S;ENSP00000426153:P195S;ENSP00000425117:P195S	ENSP00000328673:P154S	P	-	1	0	UNC5C	96418444	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.813000	0.99286	2.654000	0.90174	0.563000	0.77884	CCA		0.453	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1		NM_003728		14	52	0	0	0	0.00245	0	14	52		
DAPP1	27071	broad.mit.edu	37	4	100756843	100756843	+	Silent	SNP	C	C	T	rs554960188		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:100756843C>T	ENST00000512369.1	+	2	233	c.165C>T	c.(163-165)gaC>gaT	p.D55D	DAPP1_ENST00000296414.7_Silent_p.D55D	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	55	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		ATGGATGTGACGGCAGCTACC	0.547																																						uc003hvf.3		NaN																	0					0						c.(163-165)GAC>GAT		dual adaptor of phosphotyrosine and							130.0	127.0	128.0					4																	100756843		2072	4203	6275	SO:0001819	synonymous_variant	27071				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	g.chr4:100756843C>T	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.165C>T	4.37:g.100756843C>T						DAPP1_uc011cek.1_Silent_p.D55D|DAPP1_uc010ilh.2_Silent_p.D55D	p.D55D	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)	2	255	+			55			SH2.		Q8TCK5|Q9UHF2	Silent	SNP	ENST00000512369.1	37	c.165C>T	CCDS47112.1																																																																																				0.547	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1				48	65	0	0	0	0.013114	0	48	65		
UBE2D3	7323	broad.mit.edu	37	4	103723730	103723730	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:103723730G>C	ENST00000453744.2	-	5	699	c.186C>G	c.(184-186)ttC>ttG	p.F62L	UBE2D3_ENST00000394804.2_Missense_Mutation_p.F62L|UBE2D3_ENST00000321805.7_Missense_Mutation_p.F62L|UBE2D3_ENST00000394801.4_Missense_Mutation_p.F62L|UBE2D3_ENST00000507845.1_Missense_Mutation_p.F33L|UBE2D3_ENST00000394803.5_Missense_Mutation_p.F62L|UBE2D3_ENST00000504211.1_Missense_Mutation_p.F33L|UBE2D3_ENST00000343106.5_Missense_Mutation_p.F62L|UBE2D3_ENST00000357194.6_Missense_Mutation_p.F64L|UBE2D3_ENST00000505207.1_Missense_Mutation_p.F33L|UBE2D3_ENST00000338145.3_Missense_Mutation_p.F62L|UBE2D3_ENST00000502404.1_Missense_Mutation_p.F33L|UBE2D3_ENST00000350435.7_Missense_Mutation_p.F56L|UBE2D3_ENST00000349311.8_Missense_Mutation_p.F62L	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	62					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TAGGTGGTTTGAAGGGGTAGT	0.343																																						uc003hwk.2		NaN																	0					0						c.(184-186)TTC>TTG		ubiquitin-conjugating enzyme E2D 3 isoform 1							102.0	109.0	106.0					4																	103723730		2203	4300	6503	SO:0001583	missense	7323				apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr4:103723730G>C	U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.186C>G	4.37:g.103723730G>C	ENSP00000396901:p.Phe62Leu					UBE2D3_uc003hwi.2_Missense_Mutation_p.F62L|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Missense_Mutation_p.F62L|UBE2D3_uc011cet.1_Missense_Mutation_p.F62L|UBE2D3_uc011ceu.1_Missense_Mutation_p.F62L|UBE2D3_uc003hwo.2_Missense_Mutation_p.F62L|UBE2D3_uc003hwp.2_Missense_Mutation_p.F62L|UBE2D3_uc003hwq.2_Missense_Mutation_p.F64L|UBE2D3_uc003hwr.2_Missense_Mutation_p.F62L	p.F62L	NM_181887	NP_871616	P61077	UB2D3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)	5	647	-		Hepatocellular(203;0.217)	62					A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Missense_Mutation	SNP	ENST00000453744.2	37	c.186C>G	CCDS3660.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710486	0.68730	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000350435;ENST00000338145;ENST00000349311;ENST00000504211;ENST00000357194;ENST00000505207;ENST00000507845;ENST00000502404;ENST00000508476;ENST00000508238;ENST00000502690	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.3	5.3	0.74995	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.69513	0.3119	L	0.59967	1.855	0.80722	D	1	B;P;P	0.42010	0.363;0.653;0.768	B;B;B	0.42798	0.361;0.398;0.361	T	0.73623	-0.3924	10	0.72032	D	0.01	.	12.6447	0.56728	0.0761:0.0:0.9239:0.0	.	64;62;62	P61077-3;P61077;P61077-2	.;UB2D3_HUMAN;.	L	62;62;62;62;62;62;56;62;62;33;64;33;33;33;33;62;62	ENSP00000396901:F62L;ENSP00000378280:F62L;ENSP00000378282:F62L;ENSP00000378283:F62L;ENSP00000345285:F62L;ENSP00000318494:F62L;ENSP00000337262:F56L;ENSP00000337208:F62L;ENSP00000344069:F62L;ENSP00000426620:F33L;ENSP00000349722:F64L;ENSP00000426586:F33L;ENSP00000424359:F33L;ENSP00000421904:F33L;ENSP00000424710:F33L;ENSP00000423487:F62L;ENSP00000425762:F62L	ENSP00000318494:F62L	F	-	3	2	UBE2D3	103942840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.435000	0.59941	2.649000	0.89929	0.484000	0.47621	TTC		0.343	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253791.2		NM_181893		50	70	0	0	0	0.01441	0	50	70		
TBCK	93627	broad.mit.edu	37	4	107154786	107154786	+	Missense_Mutation	SNP	C	C	T	rs377591139		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:107154786C>T	ENST00000273980.5	-	17	1918	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	TBCK_ENST00000361687.4_Missense_Mutation_p.D428N|TBCK_ENST00000394706.3_Missense_Mutation_p.D452N|TBCK_ENST00000432496.2_Missense_Mutation_p.D491N|TBCK_ENST00000394708.2_Missense_Mutation_p.D491N					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TCAATTGCATCGTACTTGGCA	0.269																																						uc010ilv.2		NaN																	0				large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						c.(1471-1473)GAT>AAT		TBC domain-containing protein kinase-like		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4400		0,0,2200	64.0	61.0	62.0		1282,1354,1471,1471	4.8	1.0	4		62	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	TBCK	NM_033115.3,NM_001163437.1,NM_001163436.1,NM_001163435.1	23,23,23,23	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	428/831,452/855,491/894,491/894	107154786	1,12997	2200	4299	6499	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107154786C>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1471G>A	4.37:g.107154786C>T	ENSP00000273980:p.Asp491Asn					TBCK_uc003hyb.2_Missense_Mutation_p.D234N|TBCK_uc003hye.2_Missense_Mutation_p.D452N|TBCK_uc003hyc.2_Missense_Mutation_p.D428N|TBCK_uc003hyd.2_Missense_Mutation_p.D319N|TBCK_uc003hyf.2_Missense_Mutation_p.D491N	p.D491N	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN			16	1836	-			491			Rab-GAP TBC.			Missense_Mutation	SNP	ENST00000273980.5	37	c.1471G>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665655	0.47677	0.0	1.16E-4	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000503516	T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31	5.64	4.81	0.61882	Rab-GAP/TBC domain (4);	0.194972	0.53938	D	0.000056	T	0.05181	0.0138	L	0.31926	0.97	0.49299	D	0.99977	B;P;B	0.41784	0.212;0.762;0.372	B;B;B	0.32289	0.041;0.1;0.143	T	0.50558	-0.8814	10	0.25751	T	0.34	.	14.5424	0.68005	0.0:0.9299:0.0:0.0701	.	491;452;428	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	N	491;491;428;452;491;21	ENSP00000273980:D491N;ENSP00000405847:D491N;ENSP00000355338:D428N;ENSP00000378196:D452N;ENSP00000378198:D491N;ENSP00000423834:D21N	ENSP00000273980:D491N	D	-	1	0	TBCK	107374235	1.000000	0.71417	0.978000	0.43139	0.779000	0.44077	6.841000	0.75374	1.390000	0.46547	-0.136000	0.14681	GAT		0.269	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4		NM_033115		17	21	0	0	0	0.008871	0	17	21		
DKK2	27123	broad.mit.edu	37	4	107956627	107956627	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:107956627G>A	ENST00000285311.3	-	1	827	c.122C>T	c.(121-123)tCt>tTt	p.S41F	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	41					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCCGCCCAGAGAGGACTTGAT	0.612																																						uc003hyi.2		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(121-123)TCT>TTT		dickkopf homolog 2 precursor							78.0	81.0	80.0					4																	107956627		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107956627G>A	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.122C>T	4.37:g.107956627G>A	ENSP00000285311:p.Ser41Phe					DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.S41F	p.S41F	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	827	-		Hepatocellular(203;0.217)	41					A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.122C>T	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578774	0.46006	.	.	ENSG00000155011	ENST00000285311	T	0.44881	0.91	5.27	4.35	0.52113	.	0.430115	0.24766	N	0.035777	T	0.21227	0.0511	N	0.08118	0	0.80722	D	1	P;B	0.42409	0.779;0.0	B;B	0.36030	0.216;0.0	T	0.05037	-1.0910	10	0.52906	T	0.07	-14.4803	10.6988	0.45915	0.1542:0.0:0.8458:0.0	.	41;41	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	F	41	ENSP00000285311:S41F	ENSP00000285311:S41F	S	-	2	0	DKK2	108176076	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.754000	0.55189	2.742000	0.94016	0.544000	0.68410	TCT		0.612	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4				41	18	0	0	0	0.01441	0	41	18		
SEC24B	10427	broad.mit.edu	37	4	110384687	110384687	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:110384687C>T	ENST00000265175.5	+	2	819	c.764C>T	c.(763-765)tCa>tTa	p.S255L	SEC24B_ENST00000504968.2_Missense_Mutation_p.S286L|SEC24B_ENST00000399100.2_Missense_Mutation_p.S255L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	255					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAAAGTCTTTCAGGATACAGT	0.473																																						uc003hzk.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(763-765)TCA>TTA		SEC24 (S. cerevisiae) homolog B isoform a							117.0	125.0	122.0					4																	110384687		2185	4283	6468	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110384687C>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.764C>T	4.37:g.110384687C>T	ENSP00000265175:p.Ser255Leu					SEC24B_uc003hzl.2_Missense_Mutation_p.S255L|SEC24B_uc011cfp.1_Missense_Mutation_p.S286L|SEC24B_uc011cfq.1_Missense_Mutation_p.S255L|SEC24B_uc011cfr.1_Missense_Mutation_p.S255L	p.S255L	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	2	819	+		Hepatocellular(203;0.217)	255					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.764C>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093576	0.36952	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.77750	-0.95;-1.11;-1.12	5.57	4.61	0.57282	.	0.984338	0.08265	N	0.972394	T	0.61274	0.2334	N	0.19112	0.55	0.29530	N	0.852829	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.51826	-0.8656	10	0.25106	T	0.35	-6.7917	4.2131	0.10521	0.0:0.7552:0.0:0.2448	.	205;286;255;255	B4DTM6;B7ZKM8;O95487-2;O95487	.;.;.;SC24B_HUMAN	L	286;255;255	ENSP00000428564:S286L;ENSP00000382051:S255L;ENSP00000265175:S255L	ENSP00000265175:S255L	S	+	2	0	SEC24B	110604136	0.988000	0.35896	0.998000	0.56505	0.616000	0.37450	2.584000	0.46102	2.630000	0.89119	0.591000	0.81541	TCA		0.473	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2				76	13	0	0	0	0.01441	0	76	13		
SEC24B	10427	broad.mit.edu	37	4	110460768	110460768	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:110460768G>C	ENST00000265175.5	+	24	3799	c.3744G>C	c.(3742-3744)cgG>cgC	p.R1248R	SEC24B_ENST00000504968.2_Silent_p.R1278R|SEC24B_ENST00000399100.2_Silent_p.R1213R	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1248					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTGAAGACCGGACAGAGGCTG	0.353																																						uc003hzk.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(3742-3744)CGG>CGC		SEC24 (S. cerevisiae) homolog B isoform a							98.0	87.0	91.0					4																	110460768		1809	4071	5880	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110460768G>C	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3744G>C	4.37:g.110460768G>C						SEC24B_uc003hzl.2_Silent_p.R1213R|SEC24B_uc011cfp.1_Silent_p.R1278R|SEC24B_uc011cfq.1_Silent_p.R1247R|SEC24B_uc011cfr.1_Silent_p.R1212R	p.R1248R	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	24	3799	+		Hepatocellular(203;0.217)	1248					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.3744G>C	CCDS47124.1																																																																																				0.353	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2				44	24	0	0	0	0.010771	0	44	24		
CFI	3426	broad.mit.edu	37	4	110682771	110682771	+	Missense_Mutation	SNP	C	C	T	rs143366614		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:110682771C>T	ENST00000394634.2	-	4	767	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	CFI_ENST00000394635.3_Missense_Mutation_p.R187Q|CFI_ENST00000512148.1_Missense_Mutation_p.R187Q	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	187	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTCTAATCCTCGGCAATGCAC	0.388																																						uc003hzr.3		NaN																	0					0						c.(559-561)CGA>CAA		complement factor I preproprotein		C	GLN/ARG	0,4406		0,0,2203	147.0	142.0	144.0		560	1.7	0.2	4	dbSNP_134	144	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CFI	NM_000204.3	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	187/584	110682771	3,13003	2203	4300	6503	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110682771C>T	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.560G>A	4.37:g.110682771C>T	ENSP00000378130:p.Arg187Gln					CFI_uc003hzq.2_5'UTR|CFI_uc011cft.1_Missense_Mutation_p.R187Q|CFI_uc003hzs.3_Missense_Mutation_p.R187Q	p.R187Q	NM_000204	NP_000195	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	4	768	-		Hepatocellular(203;0.217)	187			SRCR.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.560G>A	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548013	0.27652	0.0	3.49E-4	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000540104;ENST00000512148;ENST00000536228	T;T;T	0.34667	1.35;1.35;1.35	5.48	1.66	0.24008	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.485734	0.22959	N	0.053576	T	0.28632	0.0709	L	0.52823	1.66	0.28833	N	0.897023	P;P;P	0.41848	0.595;0.72;0.763	B;B;B	0.36289	0.098;0.141;0.221	T	0.11916	-1.0568	10	0.45353	T	0.12	-2.3611	8.8463	0.35172	0.0:0.7032:0.0:0.2968	.	187;187;187	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	Q	187;187;187;187;169	ENSP00000378131:R187Q;ENSP00000378130:R187Q;ENSP00000427438:R187Q	ENSP00000378130:R187Q	R	-	2	0	CFI	110902220	0.016000	0.18221	0.183000	0.23137	0.408000	0.30992	-0.266000	0.08631	-0.014000	0.14175	0.591000	0.81541	CGA		0.388	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_000204		111	23	0	0	0	0.01441	0	111	23		
ANK2	287	broad.mit.edu	37	4	114232546	114232546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:114232546G>A	ENST00000357077.4	+	24	2737	c.2684G>A	c.(2683-2685)cGa>cAa	p.R895Q	ANK2_ENST00000264366.6_Missense_Mutation_p.R895Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R895Q|ANK2_ENST00000509550.1_Missense_Mutation_p.R104Q|ANK2_ENST00000506722.1_Missense_Mutation_p.R874Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	895					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R895Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGGGAGGACGATCTGACAGG	0.403																																						uc003ibe.3		NaN																	1	Substitution - Missense(1)		breast(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(2683-2685)CGA>CAA		ankyrin 2 isoform 1							122.0	102.0	109.0					4																	114232546		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114232546G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2684G>A	4.37:g.114232546G>A	ENSP00000349588:p.Arg895Gln					ANK2_uc003ibd.3_Missense_Mutation_p.R874Q|ANK2_uc003ibf.3_Missense_Mutation_p.R895Q|ANK2_uc011cgc.1_Missense_Mutation_p.R104Q|ANK2_uc003ibc.2_Missense_Mutation_p.R871Q|ANK2_uc011cgb.1_Missense_Mutation_p.R910Q	p.R895Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	24	2784	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	895					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2684G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546960	0.65198	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.77489	-0.18;-0.08;-0.31;-0.18;-0.25;-0.3;-0.39;-1.1	5.15	5.15	0.70609	.	0.000000	0.45361	D	0.000361	D	0.85039	0.5606	L	0.57536	1.79	0.80722	D	1	P;D;B;D;P;B	0.76494	0.714;0.999;0.184;0.998;0.519;0.072	B;P;B;P;B;B	0.61874	0.033;0.895;0.065;0.854;0.084;0.018	D	0.84424	0.0573	10	0.42905	T	0.14	.	19.0034	0.92842	0.0:0.0:1.0:0.0	.	104;895;895;895;874;874	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	Q	874;841;874;910;895;895;895;874;104	ENSP00000423799:R874Q;ENSP00000421011:R841Q;ENSP00000421067:R874Q;ENSP00000424722:R910Q;ENSP00000378044:R895Q;ENSP00000349588:R895Q;ENSP00000264366:R895Q;ENSP00000426944:R104Q	ENSP00000264366:R895Q	R	+	2	0	ANK2	114451995	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	7.226000	0.78060	2.547000	0.85894	0.655000	0.94253	CGA		0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		9	37	0	0	0	0.006214	0	9	37		
PDE5A	8654	broad.mit.edu	37	4	120549792	120549792	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:120549792C>T	ENST00000354960.3	-	1	354	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	PDE5A_ENST00000394439.1_5'Flank|PDE5A_ENST00000264805.5_5'Flank	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	12	Poly-Gln.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	ctgctgctgtcgctgctgcCC	0.637											OREG0016307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003idh.2		NaN																	0					0						c.(34-36)CGA>CAA		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						52.0	42.0	45.0					4																	120549792		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120549792C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.35G>A	4.37:g.120549792C>T	ENSP00000347046:p.Arg12Gln		OREG0016307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1504	PDE5A_uc003idf.2_5'Flank|PDE5A_uc003idg.2_5'Flank|uc003idj.1_5'UTR	p.R12Q	NM_001083	NP_001074	O76074	PDE5A_HUMAN			1	190	-			12			Poly-Gln.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.35G>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280564	0.59758	.	.	ENSG00000138735	ENST00000354960	T	0.62498	0.02	4.9	-7.83	0.01201	.	1.713730	0.03629	N	0.237652	T	0.23249	0.0562	N	0.02011	-0.69	0.20307	N	0.999916	B	0.32382	0.368	B	0.09377	0.004	T	0.15578	-1.0432	10	0.27785	T	0.31	.	2.9682	0.05915	0.0973:0.3373:0.2871:0.2783	.	12	O76074	PDE5A_HUMAN	Q	12	ENSP00000347046:R12Q	ENSP00000347046:R12Q	R	-	2	0	PDE5A	120769240	0.000000	0.05858	0.005000	0.12908	0.218000	0.24690	-1.452000	0.02385	-1.387000	0.02095	-1.177000	0.01723	CGA		0.637	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1		NM_001083		24	9	0	0	0	0.003954	0	24	9		
NAA15	80155	broad.mit.edu	37	4	140291390	140291390	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:140291390G>C	ENST00000296543.5	+	15	2102	c.1779G>C	c.(1777-1779)aaG>aaC	p.K593N	NAA15_ENST00000398947.1_Missense_Mutation_p.K593N	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	593	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAGAGCTAAAGAAGCTACGTA	0.303																																						uc003ihu.1		NaN																	0				ovary(1)|skin(1)	2						c.(1777-1779)AAG>AAC		NMDA receptor regulated 1							34.0	31.0	32.0					4																	140291390		1810	4072	5882	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140291390G>C	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1779G>C	4.37:g.140291390G>C	ENSP00000296543:p.Lys593Asn						p.K593N	NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN			15	2035	+			593					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.1779G>C	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122334	0.77436	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.56611	0.45;0.45	5.79	4.94	0.65067	.	0.111120	0.56097	D	0.000022	T	0.58104	0.2099	M	0.76328	2.33	0.80722	D	1	B	0.26602	0.154	B	0.33620	0.167	T	0.60464	-0.7258	10	0.54805	T	0.06	-14.4632	15.2512	0.73549	0.0685:0.0:0.9315:0.0	.	593	Q9BXJ9	NAA15_HUMAN	N	593;467;593	ENSP00000296543:K593N;ENSP00000381920:K593N	ENSP00000296543:K593N	K	+	3	2	NAA15	140510840	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.281000	0.65609	2.725000	0.93324	0.555000	0.69702	AAG		0.303	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2		NM_057175		18	2	0	0	0	0.010504	0	18	2		
ZNF330	27309	broad.mit.edu	37	4	142155060	142155060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:142155060G>A	ENST00000262990.4	+	10	1108	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ZNF330_ENST00000421169.2_Missense_Mutation_p.E234K	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	294						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					TTCAGATACTGAGTCATCAGA	0.438																																						uc003iiq.3		NaN																	0					0						c.(880-882)GAG>AAG		zinc finger protein 330							135.0	140.0	138.0					4																	142155060		2203	4300	6503	SO:0001583	missense	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142155060G>A	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.880G>A	4.37:g.142155060G>A	ENSP00000262990:p.Glu294Lys					ZNF330_uc011chl.1_Missense_Mutation_p.E234K	p.E294K	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN			10	1100	+	all_hematologic(180;0.162)		294					B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	c.880G>A	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519986	0.64634	.	.	ENSG00000109445	ENST00000262990;ENST00000421169	T;T	0.33654	1.4;1.4	5.87	5.87	0.94306	.	0.045219	0.85682	D	0.000000	T	0.41789	0.1174	L	0.59436	1.845	0.80722	D	1	B;B	0.19445	0.036;0.018	B;B	0.17722	0.012;0.019	T	0.23297	-1.0192	10	0.72032	D	0.01	-35.7157	20.5827	0.99408	0.0:0.0:1.0:0.0	.	234;294	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	K	294;234	ENSP00000262990:E294K;ENSP00000397397:E234K	ENSP00000262990:E294K	E	+	1	0	ZNF330	142374510	1.000000	0.71417	0.916000	0.36221	0.737000	0.42083	5.468000	0.66743	2.941000	0.99782	0.655000	0.94253	GAG		0.438	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2		NM_014487		20	43	0	0	0	0.010504	0	20	43		
USP38	84640	broad.mit.edu	37	4	144109040	144109040	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:144109040G>C	ENST00000307017.4	+	2	1250	c.744G>C	c.(742-744)atG>atC	p.M248I	USP38_ENST00000510377.1_Missense_Mutation_p.M248I	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	248					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CTCTTCAGATGATTACAGTTC	0.398																																						uc003ijb.2		NaN																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(742-744)ATG>ATC		ubiquitin specific peptidase 38							102.0	95.0	97.0					4																	144109040		2203	4300	6503	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144109040G>C	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.744G>C	4.37:g.144109040G>C	ENSP00000303434:p.Met248Ile					USP38_uc003ija.3_Missense_Mutation_p.M248I|USP38_uc003ijc.2_RNA	p.M248I	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			2	1278	+	all_hematologic(180;0.158)		248					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.744G>C	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080978	0.76528	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.61510	0.19;0.1	5.2	5.2	0.72013	.	0.047406	0.85682	D	0.000000	T	0.53318	0.1789	L	0.40543	1.245	0.80722	D	1	B;B	0.29552	0.248;0.248	B;B	0.30316	0.114;0.114	T	0.56378	-0.7989	10	0.72032	D	0.01	-7.8453	18.7513	0.91816	0.0:0.0:1.0:0.0	.	248;248	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	I	248	ENSP00000427647:M248I;ENSP00000303434:M248I	ENSP00000303434:M248I	M	+	3	0	USP38	144328490	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.016000	0.88706	2.434000	0.82447	0.467000	0.42956	ATG		0.398	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1		NM_032557		19	45	0	0	0	0.006122	0	19	45		
HHIP	64399	broad.mit.edu	37	4	145567932	145567932	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:145567932G>T	ENST00000296575.3	+	1	760	c.105G>T	c.(103-105)agG>agT	p.R35S	HHIP-AS1_ENST00000503066.1_RNA|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R35S|HHIP-AS1_ENST00000508269.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	35	Arg-rich.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCGGAGCAAGGAGGAGAAGGT	0.562																																						uc003ijs.1		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(103-105)AGG>AGT		hedgehog-interacting protein precursor							89.0	96.0	93.0					4																	145567932		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145567932G>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.105G>T	4.37:g.145567932G>T	ENSP00000296575:p.Arg35Ser					uc003ijq.1_5'Flank|HHIP_uc003ijr.1_Missense_Mutation_p.R35S	p.R35S	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	1	760	+	all_hematologic(180;0.151)		35			Arg-rich.		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.105G>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465595	0.43839	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.57907	3.08;0.37	5.11	3.35	0.38373	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	L	0.29908	0.895	0.58432	D	0.999994	D;P	0.71674	0.998;0.846	D;P	0.76071	0.987;0.806	T	0.59112	-0.7515	10	0.66056	D	0.02	-14.0772	11.5168	0.50526	0.1473:0.0:0.8527:0.0	.	35;35	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	S	35	ENSP00000296575:R35S;ENSP00000408587:R35S	ENSP00000296575:R35S	R	+	3	2	HHIP	145787382	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.539000	0.53604	0.529000	0.28599	0.650000	0.86243	AGG		0.562	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2				21	64	1	0	2.4624e-09	0.008871	2.55543e-09	21	64		
OTUD4	54726	broad.mit.edu	37	4	146067481	146067481	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:146067481C>T	ENST00000447906.2	-	14	1547	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	OTUD4_ENST00000454497.2_Missense_Mutation_p.E389K|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	454					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CGGGATTCTTCTATAGCTTGC	0.408																																						uc003ika.3		NaN																	0				ovary(2)|breast(1)	3						c.(1165-1167)GAA>AAA		OTU domain containing 4 protein isoform 3							136.0	139.0	138.0					4																	146067481		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146067481C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1360G>A	4.37:g.146067481C>T	ENSP00000395487:p.Glu454Lys					OTUD4_uc003ijz.3_Missense_Mutation_p.E388K	p.E389K	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			14	1303	-	all_hematologic(180;0.151)		453					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.1165G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.492572	0.96339	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.56444	0.47;0.46	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.73753	0.3627	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.75235	-0.3389	10	0.72032	D	0.01	-20.692	19.7617	0.96321	0.0:1.0:0.0:0.0	.	454;453	G3V0I6;Q01804	.;OTUD4_HUMAN	K	389;454	ENSP00000409279:E389K;ENSP00000395487:E454K	ENSP00000395487:E454K	E	-	1	0	OTUD4	146286931	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.091000	0.64505	2.671000	0.90904	0.655000	0.94253	GAA		0.408	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493		67	57	0	0	0	0.01441	0	67	57		
FBXW7	55294	broad.mit.edu	37	4	153247165	153247165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:153247165G>A	ENST00000281708.4	-	10	2866	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L	FBXW7_ENST00000296555.5_Missense_Mutation_p.S428L|FBXW7_ENST00000393956.3_Missense_Mutation_p.S370L|FBXW7_ENST00000603548.1_Missense_Mutation_p.S546L|FBXW7_ENST00000603841.1_Missense_Mutation_p.S546L|FBXW7_ENST00000263981.5_Missense_Mutation_p.S466L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	546					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACCTGTAATGAATAGACTCT	0.398			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		1	Unknown(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1636-1638)TCA>TTA		F-box and WD repeat domain containing 7 isoform							146.0	143.0	144.0					4																	153247165		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247165G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1637C>T	4.37:g.153247165G>A	ENSP00000281708:p.Ser546Leu					FBXW7_uc011cii.1_Missense_Mutation_p.S546L|FBXW7_uc003imt.2_Missense_Mutation_p.S546L|FBXW7_uc011cih.1_Missense_Mutation_p.S370L|FBXW7_uc003imq.2_Missense_Mutation_p.S466L|FBXW7_uc003imr.2_Missense_Mutation_p.S428L	p.S546L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1786	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	546			WD 5.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1637C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232249	0.95207	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84624	0.5513	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.997;0.997	D	0.86952	0.2086	10	0.87932	D	0	-13.0123	20.2406	0.98372	0.0:0.0:1.0:0.0	.	370;546;428;466	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	546;428;466;370	ENSP00000281708:S546L;ENSP00000296555:S428L;ENSP00000263981:S466L;ENSP00000377528:S370L	ENSP00000263981:S466L	S	-	2	0	FBXW7	153466615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.857000	0.98124	0.650000	0.86243	TCA		0.398	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				86	27	0	0	0	0.01441	0	86	27		
KIAA0922	23240	broad.mit.edu	37	4	154525365	154525365	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:154525365C>T	ENST00000409663.3	+	25	3250	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F	KIAA0922_ENST00000440693.1_Silent_p.F983F|KIAA0922_ENST00000409959.3_Silent_p.F1067F	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1066						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CAATTGTTTTCAGTAATCCTT	0.358																																						uc003inm.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3196-3198)TTC>TTT		hypothetical protein LOC23240 isoform 2							63.0	65.0	64.0					4																	154525365		2203	4300	6503	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154525365C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3198C>T	4.37:g.154525365C>T						KIAA0922_uc010ipp.2_Silent_p.F1067F|KIAA0922_uc010ipq.2_Silent_p.F835F	p.F1066F	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			25	3250	+	all_hematologic(180;0.093)	Renal(120;0.118)	1066			Cytoplasmic (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.3198C>T	CCDS3783.2																																																																																				0.358	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1		NM_015196		25	54	0	0	0	0.00278	0	25	54		
KIAA0922	23240	broad.mit.edu	37	4	154542885	154542885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:154542885C>G	ENST00000409663.3	+	28	3792	c.3740C>G	c.(3739-3741)tCt>tGt	p.S1247C	KIAA0922_ENST00000440693.1_Missense_Mutation_p.S1164C|KIAA0922_ENST00000409959.3_Missense_Mutation_p.S1248C	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1247						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTTGAGAGGTCTGAGCTGAGC	0.428																																						uc003inm.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3739-3741)TCT>TGT		hypothetical protein LOC23240 isoform 2							153.0	142.0	146.0					4																	154542885		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154542885C>G	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3740C>G	4.37:g.154542885C>G	ENSP00000386574:p.Ser1247Cys					KIAA0922_uc010ipp.2_Missense_Mutation_p.S1248C|KIAA0922_uc010ipq.2_Missense_Mutation_p.S1016C	p.S1247C	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			28	3792	+	all_hematologic(180;0.093)	Renal(120;0.118)	1247			Cytoplasmic (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3740C>G	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	9.244	1.039081	0.19669	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19394	2.41;2.15;2.41;2.15	5.13	5.13	0.70059	.	1.352120	0.04495	N	0.380281	T	0.37945	0.1022	L	0.34521	1.04	0.09310	N	1	D;D;D	0.64830	0.994;0.979;0.964	P;P;B	0.61722	0.893;0.639;0.436	T	0.44847	-0.9301	10	0.51188	T	0.08	-0.166	13.9428	0.64066	0.0:0.9244:0.0:0.0756	.	1164;1248;1247	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	C	1247;1164;1248;1025	ENSP00000386574:S1247C;ENSP00000409663:S1164C;ENSP00000386787:S1248C;ENSP00000240487:S1025C	ENSP00000240487:S1025C	S	+	2	0	KIAA0922	154762335	0.027000	0.19231	0.010000	0.14722	0.334000	0.28698	2.003000	0.40844	2.378000	0.81104	0.655000	0.94253	TCT		0.428	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1		NM_015196		21	40	0	0	0	0.012319	0	21	40		
NAF1	92345	broad.mit.edu	37	4	164087539	164087539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:164087539G>A	ENST00000274054.2	-	1	534	c.341C>T	c.(340-342)tCg>tTg	p.S114L	NAF1_ENST00000422287.2_Missense_Mutation_p.S114L	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	114	Ser-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ATCCGAGTCCGAGGTCTCCAA	0.706																																						uc003iqj.2		NaN																	0				ovary(2)	2						c.(340-342)TCG>TTG		nuclear assembly factor 1 homolog isoform a							15.0	19.0	18.0					4																	164087539		1946	3816	5762	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164087539G>A		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.341C>T	4.37:g.164087539G>A	ENSP00000274054:p.Ser114Leu					NAF1_uc010iqw.1_Missense_Mutation_p.S114L|NAF1_uc003iqk.2_RNA	p.S114L	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			1	535	-	all_hematologic(180;0.166)	Prostate(90;0.109)	114			Ser-rich.		D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.341C>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049801	0.36181	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.39229	1.38;1.09	4.14	4.14	0.48551	.	2.298020	0.03154	N	0.168361	T	0.52805	0.1757	N	0.19112	0.55	0.39723	D	0.971504	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.982	T	0.46414	-0.9193	10	0.33940	T	0.23	.	12.206	0.54353	0.0:0.0:1.0:0.0	.	114;114	E9PAZ2;Q96HR8	.;NAF1_HUMAN	L	114	ENSP00000408963:S114L;ENSP00000274054:S114L	ENSP00000274054:S114L	S	-	2	0	NAF1	164306989	0.939000	0.31865	0.959000	0.39883	0.031000	0.12232	3.298000	0.51818	2.601000	0.87937	0.557000	0.71058	TCG		0.706	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2		NM_138386		12	10	0	0	0	0.013537	0	12	10		
DDX60L	91351	broad.mit.edu	37	4	169351708	169351708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:169351708G>A	ENST00000511577.1	-	13	1845	c.1598C>T	c.(1597-1599)tCa>tTa	p.S533L	DDX60L_ENST00000505890.1_Missense_Mutation_p.S533L|DDX60L_ENST00000260184.7_Missense_Mutation_p.S533L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	533							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CGTAGAGATTGATTCTAACGA	0.373																																						uc003irq.3		NaN																	0				ovary(1)	1						c.(1597-1599)TCA>TTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							67.0	61.0	63.0					4																	169351708		1853	4085	5938	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169351708G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1598C>T	4.37:g.169351708G>A	ENSP00000422423:p.Ser533Leu					DDX60L_uc003irr.1_Missense_Mutation_p.S533L|DDX60L_uc003irs.1_Missense_Mutation_p.S260L	p.S533L	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	13	1819	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	533					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.1598C>T		.	.	.	.	.	.	.	.	.	.	G	9.686	1.150599	0.21371	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.19105	2.17;2.17;2.17;2.85	3.54	1.58	0.23477	.	2.653550	0.04952	U	0.460459	T	0.18964	0.0455	L	0.54323	1.7	0.09310	N	1	P;P;P	0.44627	0.565;0.839;0.565	B;B;B	0.35971	0.115;0.215;0.115	T	0.28650	-1.0037	10	0.54805	T	0.06	.	5.0992	0.14751	0.1211:0.0:0.5957:0.2832	.	533;533;533	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	L	533;533;533;261	ENSP00000260184:S533L;ENSP00000422423:S533L;ENSP00000422202:S533L;ENSP00000421026:S261L	ENSP00000260184:S533L	S	-	2	0	DDX60L	169588283	0.055000	0.20627	0.010000	0.14722	0.014000	0.08584	0.271000	0.18626	0.581000	0.29539	0.467000	0.42956	TCA		0.373	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1		NM_001012967		5	14	0	0	0	0.000602	0	5	14		
SLC9A3	6550	broad.mit.edu	37	5	475147	475147	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:475147C>T	ENST00000264938.3	-	16	2361	c.2352G>A	c.(2350-2352)tcG>tcA	p.S784S	CTD-2228K2.5_ENST00000510714.1_5'Flank|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.5_ENST00000510604.1_5'Flank|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.5_ENST00000342584.3_5'Flank|CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.S775S|CTD-2228K2.7_ENST00000606319.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	784					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGGCCCTCTGCGAGGGGACCA	0.672																																						uc003jbe.2		NaN																	0					0						c.(2350-2352)TCG>TCA		solute carrier family 9 (sodium/hydrogen							23.0	28.0	27.0					5																	475147		2201	4298	6499	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:475147C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2352G>A	5.37:g.475147C>T						SLC9A3_uc011clx.1_Silent_p.S775S|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank	p.S784S	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		16	2464	-			784			Cytoplasmic (Potential).		B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.2352G>A	CCDS3855.1																																																																																				0.672	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2		NM_004174		7	11	0	0	0	0.00308	0	7	11		
SLC12A7	10723	broad.mit.edu	37	5	1081816	1081816	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:1081816C>T	ENST00000264930.5	-	9	1216	c.1173G>A	c.(1171-1173)gaG>gaA	p.E391E		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	391					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CACCTTTCTTCTCCACAAACG	0.652																																						uc003jbu.2		NaN																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1171-1173)GAG>GAA		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						87.0	81.0	83.0					5																	1081816		2201	4300	6501	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1081816C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1173G>A	5.37:g.1081816C>T							p.E391E	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		9	1239	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		391					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.1173G>A	CCDS34129.1																																																																																				0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2		NM_006598		10	35	0	0	0	0.008291	0	10	35		
SLC12A7	10723	broad.mit.edu	37	5	1081819	1081819	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:1081819C>T	ENST00000264930.5	-	9	1213	c.1170G>A	c.(1168-1170)gtG>gtA	p.V390V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	390					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTTTCTTCTCCACAAACGCCC	0.652																																						uc003jbu.2		NaN																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1168-1170)GTG>GTA		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						85.0	79.0	81.0					5																	1081819		2201	4300	6501	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1081819C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1170G>A	5.37:g.1081819C>T							p.V390V	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		9	1236	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		390					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.1170G>A	CCDS34129.1																																																																																				0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2		NM_006598		9	35	0	0	0	0.006214	0	9	35		
SLC6A18	348932	broad.mit.edu	37	5	1239598	1239598	+	Missense_Mutation	SNP	G	G	A	rs544435022		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:1239598G>A	ENST00000324642.3	+	6	889	c.766G>A	c.(766-768)Gac>Aac	p.D256N	SLC6A18_ENST00000296821.4_Missense_Mutation_p.D251N	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	256					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTGTGGCTGGACGCAGCCAC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20788	0.0		0.0	False		,,,				2504	0.001					uc003jby.1		NaN																	0				ovary(1)	1						c.(766-768)GAC>AAC		solute carrier family 6, member 18							109.0	111.0	110.0					5																	1239598		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1239598G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.766G>A	5.37:g.1239598G>A	ENSP00000323549:p.Asp256Asn						p.D256N	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	889	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		256			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.766G>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515851	0.85495	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.77750	-1.12;-1.12	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.86585	0.5968	M	0.67700	2.07	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	D	0.87952	0.2724	10	0.56958	D	0.05	.	16.3792	0.83439	0.0:0.0:1.0:0.0	.	256	Q96N87	S6A18_HUMAN	N	256;251	ENSP00000323549:D256N;ENSP00000296821:D251N	ENSP00000296821:D251N	D	+	1	0	SLC6A18	1292598	1.000000	0.71417	0.992000	0.48379	0.895000	0.52256	9.110000	0.94302	1.951000	0.56629	0.555000	0.69702	GAC		0.577	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3		NM_182632		60	62	0	0	0	0.01441	0	60	62		
SLC6A3	6531	broad.mit.edu	37	5	1420746	1420746	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:1420746C>T	ENST00000270349.9	-	6	992	c.865G>A	c.(865-867)Gga>Aga	p.G289R	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G289R	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	289					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTATGGCTCCAGGGAGGGTG	0.597																																						uc003jck.2		NaN																	0				ovary(3)|breast(2)|pancreas(1)	6						c.(865-867)GGA>AGA		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						133.0	113.0	119.0					5																	1420746		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1420746C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.865G>A	5.37:g.1420746C>T	ENSP00000270349:p.Gly289Arg						p.G289R	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		6	986	-			289					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.865G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781272	0.49891	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	D;D;D	0.87729	-2.29;-2.29;-2.29	4.45	3.58	0.41010	.	0.000000	0.85682	D	0.000000	D	0.95984	0.8692	H	0.99487	4.59	0.58432	D	0.999993	D	0.89917	1.0	D	0.74348	0.983	D	0.95440	0.8524	10	0.87932	D	0	.	10.2913	0.43596	0.0:0.9001:0.0:0.0999	.	289	Q01959	SC6A3_HUMAN	R	289;289;215	ENSP00000270349:G289R;ENSP00000399806:G289R;ENSP00000429101:G215R	ENSP00000270349:G289R	G	-	1	0	SLC6A3	1473746	1.000000	0.71417	0.012000	0.15200	0.113000	0.19764	5.408000	0.66368	0.850000	0.35239	0.561000	0.74099	GGA		0.597	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3		NM_001044		19	77	0	0	0	0.007413	0	19	77		
NSUN2	54888	broad.mit.edu	37	5	6604332	6604332	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:6604332C>T	ENST00000264670.6	-	17	2187	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	NSUN2_ENST00000506139.1_Missense_Mutation_p.D591N|NSUN2_ENST00000539938.1_Missense_Mutation_p.D390N	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	626					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ATCTTAACATCTTCCATTGAT	0.363																																						uc003jdu.2		NaN																	0				ovary(1)	1						c.(1876-1878)GAT>AAT		NOL1/NOP2/Sun domain family, member 2							109.0	108.0	109.0					5																	6604332		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6604332C>T	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1876G>A	5.37:g.6604332C>T	ENSP00000264670:p.Asp626Asn					NSUN2_uc003jds.2_Missense_Mutation_p.D72N|NSUN2_uc003jdt.2_Missense_Mutation_p.D390N|NSUN2_uc011cmk.1_Missense_Mutation_p.D591N|NSUN2_uc003jdv.2_Missense_Mutation_p.D390N	p.D626N	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			17	1941	-			626					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1876G>A	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256267	0.95336	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.64618	-0.11;-0.11;-0.11	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.82287	0.5004	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.79032	-0.1969	10	0.27082	T	0.32	-52.9141	20.3277	0.98707	0.0:1.0:0.0:0.0	.	591;626;626	B4DQW2;Q08J23;A8K529	.;NSUN2_HUMAN;.	N	626;390;591	ENSP00000264670:D626N;ENSP00000444338:D390N;ENSP00000420957:D591N	ENSP00000264670:D626N	D	-	1	0	NSUN2	6657332	1.000000	0.71417	0.997000	0.53966	0.692000	0.40212	5.122000	0.64697	2.879000	0.98667	0.650000	0.86243	GAT		0.363	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1		NM_017755		27	56	0	0	0	0.003954	0	27	56		
MTRR	4552	broad.mit.edu	37	5	7870910	7870910	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:7870910G>A	ENST00000264668.2	+	2	114	c.84G>A	c.(82-84)atG>atA	p.M28I	MTRR_ENST00000440940.2_Start_Codon_SNP_p.M1I|FASTKD3_ENST00000264669.5_5'Flank|FASTKD3_ENST00000513658.1_5'Flank|MTRR_ENST00000341013.6_Start_Codon_SNP_p.M1I|MTRR_ENST00000502509.1_Intron	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	28					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)	p.M28I(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TTGAAGTGATGAGGAGGTTTC	0.403																																						uc003jed.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(82-84)ATG>ATA		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						124.0	113.0	117.0					5																	7870910		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7870910G>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.84G>A	5.37:g.7870910G>A	ENSP00000264668:p.Met28Ile					FASTKD3_uc011cmp.1_5'Flank|FASTKD3_uc003jeb.2_5'Flank|FASTKD3_uc003jec.2_5'Flank|MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.M1I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.M28I	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			2	114	+			28					O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.84G>A	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618287	0.46736	.	.	ENSG00000124275	ENST00000264668;ENST00000341013;ENST00000440940;ENST00000502550;ENST00000506877;ENST00000512217	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.46	5.46	0.80206	.	0.425178	0.28442	N	0.015327	T	0.33323	0.0859	N	0.08118	0	0.80722	D	1	P	0.44195	0.828	B	0.39465	0.3	T	0.15838	-1.0423	10	0.38643	T	0.18	-25.5132	7.1159	0.25416	0.2065:0.0:0.7935:0.0	.	28	Q9UBK8	MTRR_HUMAN	I	28;1;1;1;1;1	ENSP00000264668:M28I;ENSP00000341918:M1I;ENSP00000402510:M1I;ENSP00000424599:M1I;ENSP00000427416:M1I;ENSP00000421318:M1I	ENSP00000264668:M28I	M	+	3	0	MTRR	7923910	1.000000	0.71417	0.943000	0.38184	0.201000	0.24016	2.203000	0.42752	2.559000	0.86315	0.655000	0.94253	ATG		0.403	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1				56	52	0	0	0	0.01441	0	56	52		
SEMA5A	9037	broad.mit.edu	37	5	9202334	9202334	+	Missense_Mutation	SNP	G	G	A	rs201824915		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:9202334G>A	ENST00000382496.5	-	9	1330	c.665C>T	c.(664-666)tCt>tTt	p.S222F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	222	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GATGTCATAAGATGACACAAA	0.418																																						uc003jek.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(664-666)TCT>TTT		semaphorin 5A precursor							58.0	59.0	58.0					5																	9202334		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9202334G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.665C>T	5.37:g.9202334G>A	ENSP00000371936:p.Ser222Phe						p.S222F	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			9	1377	-			222			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.665C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691595	0.68271	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	T;T	0.16073	2.37;2.37	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	M	0.87827	2.91	0.80722	D	1	D	0.53619	0.961	P	0.62885	0.908	T	0.52837	-0.8522	10	0.87932	D	0	.	16.9149	0.86149	0.0:0.0:1.0:0.0	.	222	Q13591	SEM5A_HUMAN	F	222	ENSP00000371936:S222F;ENSP00000421961:S222F	ENSP00000371936:S222F	S	-	2	0	SEMA5A	9255334	1.000000	0.71417	0.248000	0.24265	0.581000	0.36288	9.214000	0.95140	2.604000	0.88044	0.655000	0.94253	TCT		0.418	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2				15	29	0	0	0	0.003163	0	15	29		
FAM134B	54463	broad.mit.edu	37	5	16475032	16475032	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:16475032G>C	ENST00000306320.9	-	9	1398	c.1312C>G	c.(1312-1314)Cag>Gag	p.Q438E	FAM134B_ENST00000399793.2_Missense_Mutation_p.Q297E	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	438					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						GGGGCAGCCTGAGAAAGTGCT	0.498																																						uc003jfs.2		NaN																	0				ovary(2)|breast(1)	3						c.(1312-1314)CAG>GAG		hypothetical protein LOC54463 isoform 1							98.0	97.0	97.0					5																	16475032		1980	4168	6148	SO:0001583	missense	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16475032G>C	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.1312C>G	5.37:g.16475032G>C	ENSP00000304642:p.Gln438Glu					FAM134B_uc003jfr.2_Missense_Mutation_p.Q297E	p.Q438E	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN			9	1350	-			438					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	c.1312C>G	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.406741	0.01155	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	T;T	0.42513	0.99;0.97	5.82	4.03	0.46877	.	0.807151	0.11921	N	0.516625	T	0.30417	0.0764	L	0.36672	1.1	0.21184	N	0.999767	B;B	0.26318	0.146;0.034	B;B	0.24974	0.057;0.053	T	0.20371	-1.0277	10	0.02654	T	1	-0.0255	12.4955	0.55925	0.0:0.1275:0.7397:0.1328	.	438;297	Q9H6L5;Q9H6L5-2	F134B_HUMAN;.	E	297;438	ENSP00000382691:Q297E;ENSP00000304642:Q438E	ENSP00000304642:Q438E	Q	-	1	0	FAM134B	16528032	0.752000	0.28338	0.047000	0.18901	0.626000	0.37791	3.480000	0.53172	0.789000	0.33779	-0.165000	0.13383	CAG		0.498	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1		NM_001034850		18	55	0	0	0	0.007413	0	18	55		
MYO10	4651	broad.mit.edu	37	5	16680071	16680071	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:16680071C>T	ENST00000513610.1	-	33	4981	c.4527G>A	c.(4525-4527)ctG>ctA	p.L1509L	MYO10_ENST00000274203.9_Silent_p.L866L|MYO10_ENST00000515803.1_Silent_p.L848L|MYO10_ENST00000427430.2_Silent_p.L866L|MYO10_ENST00000505695.1_Silent_p.L848L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1509					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TATCTTGAATCAGCTGCTGGG	0.537																																						uc003jft.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(4525-4527)CTG>CTA		myosin X							80.0	78.0	79.0					5																	16680071		1945	4147	6092	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16680071C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4527G>A	5.37:g.16680071C>T						MYO10_uc011cnb.1_Silent_p.L138L|MYO10_uc011cnc.1_Silent_p.L388L|MYO10_uc011cnd.1_Silent_p.L866L|MYO10_uc011cne.1_Silent_p.L866L|MYO10_uc010itx.2_Silent_p.L1131L	p.L1509L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			33	4995	-			1509					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.4527G>A	CCDS54834.1																																																																																				0.537	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1		NM_012334		5	21	0	0	0	0.001168	0	5	21		
PRDM9	56979	broad.mit.edu	37	5	23522739	23522739	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:23522739G>C	ENST00000296682.3	+	8	809	c.627G>C	c.(625-627)caG>caC	p.Q209H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	209					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGATGTGTCAGAACTTCTTCA	0.488										HNSCC(3;0.000094)																												uc003jgo.2		NaN																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(625-627)CAG>CAC		PR domain containing 9							50.0	49.0	50.0					5																	23522739		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522739G>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.627G>C	5.37:g.23522739G>C	ENSP00000296682:p.Gln209His	HNSCC(3;0.000094)					p.Q209H	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			8	809	+			209					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.627G>C	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715661	0.48622	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.54279	0.58	4.28	3.38	0.38709	.	0.255385	0.20741	N	0.086532	T	0.50956	0.1646	M	0.71581	2.175	0.30794	N	0.740577	B	0.22146	0.065	B	0.22152	0.038	T	0.57447	-0.7810	10	0.72032	D	0.01	-13.299	10.2208	0.43196	0.0:0.2034:0.7966:0.0	.	209	Q9NQV7	PRDM9_HUMAN	H	209;3	ENSP00000296682:Q209H	ENSP00000253473:Q3H	Q	+	3	2	PRDM9	23558496	0.997000	0.39634	0.998000	0.56505	0.813000	0.45954	3.098000	0.50259	0.870000	0.35726	0.597000	0.82753	CAG		0.488	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1		NM_020227		9	24	0	0	0	0.006214	0	9	24		
CDH6	1004	broad.mit.edu	37	5	31302360	31302360	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:31302360C>T	ENST00000265071.2	+	6	1219	c.954C>T	c.(952-954)gtC>gtT	p.V318V	CDH6_ENST00000514738.1_Silent_p.V263V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTTTGATGTCATCACCGACC	0.453																																						uc003jhe.1		NaN																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(952-954)GTC>GTT		cadherin 6, type 2 preproprotein							119.0	113.0	115.0					5																	31302360		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31302360C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.954C>T	5.37:g.31302360C>T						CDH6_uc003jhd.1_Silent_p.V318V	p.V318V	NM_004932	NP_004923	P55285	CADH6_HUMAN			6	1280	+			318			Cadherin 3.|Extracellular (Potential).		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.954C>T	CCDS3894.1																																																																																				0.453	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2		NM_004932		11	47	0	0	0	0.008291	0	11	47		
ADAMTS12	81792	broad.mit.edu	37	5	33641932	33641932	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:33641932C>T	ENST00000504830.1	-	11	2036	c.1701G>A	c.(1699-1701)agG>agA	p.R567R	ADAMTS12_ENST00000352040.3_Silent_p.R567R|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	567	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTTGCAGAGCCTCTCTGCGC	0.592										HNSCC(64;0.19)																												uc003jia.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1699-1701)AGG>AGA		ADAM metallopeptidase with thrombospondin type 1							70.0	73.0	72.0					5																	33641932		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33641932C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1701G>A	5.37:g.33641932C>T		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.R567R	p.R567R	NM_030955	NP_112217	P58397	ATS12_HUMAN			11	1864	-			567			TSP type-1 1.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1701G>A	CCDS34140.1																																																																																				0.592	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		19	54	0	0	0	0.010504	0	19	54		
CAPSL	133690	broad.mit.edu	37	5	35921175	35921175	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:35921175C>G	ENST00000397367.2	-	2	174	c.48G>C	c.(46-48)aaG>aaC	p.K16N	CAPSL_ENST00000397366.1_Missense_Mutation_p.K16N|CAPSL_ENST00000514524.1_Missense_Mutation_p.K16N	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	16						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGAGCTTTTTCTTGGCCTGGA	0.612																																						uc003jjt.1		NaN																	0				skin(1)	1						c.(46-48)AAG>AAC		calcyphosine-like							109.0	94.0	99.0					5																	35921175		2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35921175C>G	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.48G>C	5.37:g.35921175C>G	ENSP00000380524:p.Lys16Asn					CAPSL_uc003jju.1_Missense_Mutation_p.K16N	p.K16N	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		2	143	-	all_lung(31;0.000268)		16						Missense_Mutation	SNP	ENST00000397367.2	37	c.48G>C	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527375	0.27299	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	D;D;D;D	0.83755	-1.63;-1.63;-1.74;-1.76	4.8	3.0	0.34707	.	0.101870	0.64402	D	0.000004	T	0.77772	0.4180	M	0.66939	2.045	0.42160	D	0.991597	B	0.14438	0.01	B	0.18561	0.022	T	0.70666	-0.4809	10	0.46703	T	0.11	-12.3338	5.236	0.15446	0.0:0.4761:0.3489:0.175	.	16	Q8WWF8	CAPSL_HUMAN	N	16	ENSP00000380524:K16N;ENSP00000380523:K16N;ENSP00000424806:K16N;ENSP00000421018:K16N	ENSP00000380523:K16N	K	-	3	2	CAPSL	35956932	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	0.670000	0.25157	0.537000	0.28751	-0.216000	0.12614	AAG		0.612	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2		NM_144647		14	35	0	0	0	0.001855	0	14	35		
EGFLAM	133584	broad.mit.edu	37	5	38464063	38464063	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:38464063A>C	ENST00000354891.3	+	23	3375	c.3029A>C	c.(3028-3030)aAc>aCc	p.N1010T	EGFLAM_ENST00000322350.5_Missense_Mutation_p.N1002T|CTD-2263F21.1_ENST00000510137.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.N768T|EGFLAM_ENST00000506135.1_Missense_Mutation_p.N145T|EGFLAM_ENST00000514476.1_Missense_Mutation_p.N145T|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.N368T|EGFLAM_ENST00000397210.3_Missense_Mutation_p.N145T	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	1010	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GATGGGAAAAACATCAACACT	0.532																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NaN																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(3028-3030)AAC>ACC		EGF-like, fibronectin type III and laminin G							125.0	97.0	107.0					5																	38464063		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38464063A>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.3029A>C	5.37:g.38464063A>C	ENSP00000346964:p.Asn1010Thr					EGFLAM_uc003jlb.1_Missense_Mutation_p.N1002T|EGFLAM_uc003jle.1_Missense_Mutation_p.N768T|EGFLAM_uc003jlf.1_Missense_Mutation_p.N368T|EGFLAM_uc003jlg.1_Missense_Mutation_p.N145T|EGFLAM_uc003jlh.1_Missense_Mutation_p.N92T	p.N1010T	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			23	3353	+	all_lung(31;0.000385)		1010			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.3029A>C	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.876230	0.72180	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000514476	T;T;T;D;T;T;T	0.83914	0.76;0.61;-1.33;-1.78;-0.25;-0.25;-0.25	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.994	D;D;D;D	0.91635	0.998;0.999;0.998;0.966	D	0.89167	0.3534	10	0.51188	T	0.08	-2.5695	16.3943	0.83563	1.0:0.0:0.0:0.0	.	368;768;1010;1002	Q63HQ2-3;Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;.;EGFLA_HUMAN;.	T	1010;1002;768;368;768;145;145;145	ENSP00000346964:N1010T;ENSP00000313084:N1002T;ENSP00000337607:N768T;ENSP00000380385:N368T;ENSP00000380393:N145T;ENSP00000425579:N145T;ENSP00000423228:N145T	ENSP00000313084:N1002T	N	+	2	0	EGFLAM	38499820	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.675000	0.91195	2.281000	0.76405	0.533000	0.62120	AAC		0.532	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1		NM_152403		10	24	0	0	0	0.006214	0	10	24		
OSMR	9180	broad.mit.edu	37	5	38904542	38904542	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:38904542G>C	ENST00000274276.3	+	9	1624	c.1222G>C	c.(1222-1224)Gat>Cat	p.D408H		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	408	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ACGGTGTGCTGATGCCAGCCA	0.478																																						uc003jln.1		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1222-1224)GAT>CAT		oncostatin M receptor precursor							121.0	105.0	110.0					5																	38904542		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38904542G>C	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1222G>C	5.37:g.38904542G>C	ENSP00000274276:p.Asp408His						p.D408H	NM_003999	NP_003990	Q99650	OSMR_HUMAN			9	1589	+	all_lung(31;0.000365)		408			Fibronectin type-III 1.|Extracellular (Potential).		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.1222G>C	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.652985	0.29336	.	.	ENSG00000145623	ENST00000274276;ENST00000513831	T;T	0.54675	0.56;0.56	5.57	-6.67	0.01783	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.651550	0.03700	N	0.248410	T	0.29556	0.0737	N	0.22421	0.69	0.09310	N	1	B	0.27117	0.168	B	0.20384	0.029	T	0.08848	-1.0702	10	0.18276	T	0.48	.	4.3898	0.11334	0.4436:0.0:0.1895:0.3668	.	408	Q99650	OSMR_HUMAN	H	408;15	ENSP00000274276:D408H;ENSP00000423913:D15H	ENSP00000274276:D408H	D	+	1	0	OSMR	38940299	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-1.343000	0.02642	-0.998000	0.03446	0.557000	0.71058	GAT		0.478	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2		NM_003999		16	55	0	0	0	0.00499	0	16	55		
RICTOR	253260	broad.mit.edu	37	5	38945050	38945050	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:38945050G>A	ENST00000357387.3	-	35	4784	c.4754C>T	c.(4753-4755)tCa>tTa	p.S1585L	RICTOR_ENST00000296782.5_Missense_Mutation_p.S1609L	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GCTGCTAGCTGAGCCTTCTTG	0.403																																						uc003jlp.2		NaN																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(4753-4755)TCA>TTA		rapamycin-insensitive companion of mTOR							117.0	117.0	117.0					5																	38945050		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38945050G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4754C>T	5.37:g.38945050G>A	ENSP00000349959:p.Ser1585Leu					RICTOR_uc003jlo.2_Missense_Mutation_p.S1609L|RICTOR_uc010ivf.2_Missense_Mutation_p.S1262L	p.S1585L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			35	4778	-	all_lung(31;0.000396)		1585						Missense_Mutation	SNP	ENST00000357387.3	37	c.4754C>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361809	0.95877	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.53423	0.64;0.62	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	L	0.59436	1.845	0.80722	D	1	D;P	0.61080	0.989;0.844	D;P	0.75020	0.985;0.447	T	0.68853	-0.5299	10	0.87932	D	0	-13.4034	19.4047	0.94643	0.0:0.0:1.0:0.0	.	1585;1609	Q6R327;Q6R327-3	RICTR_HUMAN;.	L	1585;1609	ENSP00000349959:S1585L;ENSP00000296782:S1609L	ENSP00000296782:S1609L	S	-	2	0	RICTOR	38980807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.301000	0.89951	2.660000	0.90430	0.563000	0.77884	TCA		0.403	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1		NM_152756		40	124	0	0	0	0.00874	0	40	124		
CARD6	84674	broad.mit.edu	37	5	40853853	40853853	+	Missense_Mutation	SNP	C	C	T	rs34452222		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:40853853C>T	ENST00000254691.5	+	3	2618	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	807					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGAGTTGCTCGGGGATGTCA	0.473																																						uc003jmg.2		NaN																	0				ovary(2)|skin(2)|lung(1)	5						c.(2419-2421)CGG>TGG		caspase recruitment domain family, member 6							221.0	237.0	232.0					5																	40853853		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853853C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2419C>T	5.37:g.40853853C>T	ENSP00000254691:p.Arg807Trp						p.R807W	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	2494	+			807					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2419C>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	9.837	1.189874	0.21954	.	.	ENSG00000132357	ENST00000254691	T	0.14144	2.53	4.93	-4.19	0.03835	.	1.629080	0.03309	N	0.190240	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35798	-0.9774	10	0.40728	T	0.16	2.5478	9.1005	0.36664	0.0:0.2127:0.1223:0.6649	.	807	Q9BX69	CARD6_HUMAN	W	807	ENSP00000254691:R807W	ENSP00000254691:R807W	R	+	1	2	CARD6	40889610	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.883000	0.04170	-1.340000	0.02227	-0.379000	0.06801	CGG		0.473	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3				87	300	0	0	0	0.01441	0	87	300		
MROH2B	133558	broad.mit.edu	37	5	40998246	40998246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:40998246G>A	ENST00000399564.4	-	42	5116	c.4666C>T	c.(4666-4668)Cgt>Tgt	p.R1556C	MROH2B_ENST00000506092.2_Missense_Mutation_p.R1111C	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1556																	GGATCTTGACGAAGTGCTTGG	0.483																																						uc003jmj.3		NaN																	0				ovary(6)|central_nervous_system(2)	8						c.(4666-4668)CGT>TGT		HEAT repeat family member 7B2							163.0	152.0	155.0					5																	40998246		1934	4160	6094	SO:0001583	missense	133558						binding	g.chr5:40998246G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4666C>T	5.37:g.40998246G>A	ENSP00000382476:p.Arg1556Cys					HEATR7B2_uc003jmi.3_Missense_Mutation_p.R1111C	p.R1556C	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			42	5156	-			1556					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4666C>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136248	0.37728	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.65178	-0.14;-0.14	4.43	3.49	0.39957	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.43416	D	0.000563	T	0.70141	0.3190	L	0.51422	1.61	0.42021	D	0.990984	D	0.89917	1.0	D	0.77004	0.989	T	0.71728	-0.4505	10	0.72032	D	0.01	.	9.1027	0.36678	0.0:0.0:0.7818:0.2182	.	1556	Q7Z745	HTRB2_HUMAN	C	1111;1261;1556	ENSP00000441504:R1111C;ENSP00000382476:R1556C	ENSP00000296803:R1261C	R	-	1	0	HEATR7B2	41034003	0.997000	0.39634	0.995000	0.50966	0.124000	0.20399	1.153000	0.31676	2.473000	0.83533	0.655000	0.94253	CGT		0.483	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2		NM_173489		58	159	0	0	0	0.01441	0	58	159		
MROH2B	133558	broad.mit.edu	37	5	41009477	41009477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:41009477C>T	ENST00000399564.4	-	32	3775	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E664K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1109																	GCTGGCTTTTCAGCCAGCGCC	0.498																																						uc003jmj.3		NaN																	0				ovary(6)|central_nervous_system(2)	8						c.(3325-3327)GAA>AAA		HEAT repeat family member 7B2							91.0	95.0	94.0					5																	41009477		1852	4104	5956	SO:0001583	missense	133558						binding	g.chr5:41009477C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3325G>A	5.37:g.41009477C>T	ENSP00000382476:p.Glu1109Lys					HEATR7B2_uc003jmi.3_Missense_Mutation_p.E664K	p.E1109K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			32	3815	-			1109					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3325G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	6.980	0.550878	0.13374	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.04809	3.55;3.55	6.06	3.23	0.37069	Armadillo-type fold (1);	0.188110	0.37761	N	0.001941	T	0.04907	0.0132	M	0.62723	1.935	0.29912	N	0.823458	P	0.34587	0.458	B	0.31869	0.137	T	0.13602	-1.0503	10	0.06365	T	0.9	.	8.5709	0.33569	0.0:0.633:0.2888:0.0783	.	1109	Q7Z745	HTRB2_HUMAN	K	664;814;1109	ENSP00000441504:E664K;ENSP00000382476:E1109K	ENSP00000296803:E814K	E	-	1	0	HEATR7B2	41045234	1.000000	0.71417	0.999000	0.59377	0.239000	0.25481	2.152000	0.42272	0.890000	0.36211	-0.175000	0.13238	GAA		0.498	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2		NM_173489		15	55	0	0	0	0.008361	0	15	55		
MROH2B	133558	broad.mit.edu	37	5	41009499	41009499	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:41009499C>T	ENST00000399564.4	-	32	3753	c.3303G>A	c.(3301-3303)aaG>aaA	p.K1101K	MROH2B_ENST00000506092.2_Silent_p.K656K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1101																	TCCACAATGTCTTTGTGTCCC	0.473																																						uc003jmj.3		NaN																	0				ovary(6)|central_nervous_system(2)	8						c.(3301-3303)AAG>AAA		HEAT repeat family member 7B2							95.0	94.0	94.0					5																	41009499		1861	4099	5960	SO:0001819	synonymous_variant	133558						binding	g.chr5:41009499C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3303G>A	5.37:g.41009499C>T						HEATR7B2_uc003jmi.3_Silent_p.K656K	p.K1101K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			32	3793	-			1101					Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.3303G>A	CCDS47202.1																																																																																				0.473	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2		NM_173489		23	76	0	0	0	0.00278	0	23	76		
PELO	53918	broad.mit.edu	37	5	52096666	52096666	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:52096666C>T	ENST00000274311.2	+	2	1423	c.438C>T	c.(436-438)ctC>ctT	p.L146L	PELO_ENST00000506949.1_Intron|ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	146					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AGGAAGGCCTCGCCCATATCT	0.582																																						uc003jos.2		NaN																	0					0						c.(436-438)CTC>CTT		pelota homolog							53.0	50.0	51.0					5																	52096666		2203	4300	6503	SO:0001819	synonymous_variant	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096666C>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.438C>T	5.37:g.52096666C>T						ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron	p.L146L	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN			2	1423	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	146					Q9GZS6|Q9Y306	Silent	SNP	ENST00000274311.2	37	c.438C>T	CCDS3956.1																																																																																				0.582	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1		NM_015946		4	16	0	0	0	0.009096	0	4	16		
SNX18	112574	broad.mit.edu	37	5	53815651	53815651	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:53815651G>A	ENST00000326277.3	+	1	2059	c.1869G>A	c.(1867-1869)atG>atA	p.M623I	SNX18_ENST00000381410.4_Intron|SNX18_ENST00000343017.6_Intron	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	623	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TACCTTTGATGACAGTGCTAT	0.413																																						uc003jpj.3		NaN																	0					0						c.(1867-1869)ATG>ATA		sorting nexin 18 isoform b							49.0	50.0	49.0					5																	53815651		2203	4300	6503	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53815651G>A	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1869G>A	5.37:g.53815651G>A	ENSP00000317332:p.Met623Ile					SNX18_uc011cqg.1_Intron|SNX18_uc003jpi.3_Intron	p.M623I	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN			1	2059	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	623			BAR.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.1869G>A	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	9.653	1.141992	0.21205	.	.	ENSG00000178996	ENST00000326277	T	0.10099	2.91	3.82	2.94	0.34122	.	0.150870	0.42420	U	0.000720	T	0.07052	0.0179	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.37033	-0.9723	9	.	.	.	-10.6676	10.4926	0.44760	0.1031:0.0:0.8969:0.0	.	623	Q96RF0	SNX18_HUMAN	I	623	ENSP00000317332:M623I	.	M	+	3	0	SNX18	53851408	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.150000	0.16263	0.588000	0.29660	-1.134000	0.01955	ATG		0.413	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2				15	44	0	0	0	0.003163	0	15	44		
DHX29	54505	broad.mit.edu	37	5	54573026	54573026	+	Missense_Mutation	SNP	G	G	T	rs200185292		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:54573026G>T	ENST00000251636.5	-	13	2342	c.2194C>A	c.(2194-2196)Cta>Ata	p.L732I	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	732	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GCACTCATTAGAATCAAGTGT	0.368																																						uc003jpx.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2194-2196)CTA>ATA		DEAH (Asp-Glu-Ala-His) box polypeptide 29							75.0	77.0	76.0					5																	54573026		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54573026G>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2194C>A	5.37:g.54573026G>T	ENSP00000251636:p.Leu732Ile					DHX29_uc010ivw.2_RNA	p.L732I	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			13	2314	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	732			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.2194C>A	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943354	0.73672	.	.	ENSG00000067248	ENST00000251636	T	0.15718	2.4	5.91	1.67	0.24075	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	L	0.44542	1.39	0.43994	D	0.996698	D	0.69078	0.997	D	0.75020	0.985	T	0.01416	-1.1360	10	0.72032	D	0.01	.	7.4874	0.27441	0.498:0.0:0.502:0.0	.	732	Q7Z478	DHX29_HUMAN	I	732	ENSP00000251636:L732I	ENSP00000251636:L732I	L	-	1	2	DHX29	54608783	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	2.559000	0.45888	0.423000	0.26033	0.650000	0.86243	CTA		0.368	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1		NM_019030		11	67	1	0	1.08611e-07	0.010729	1.12018e-07	11	67		
CWC27	10283	broad.mit.edu	37	5	64267618	64267618	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:64267618G>A	ENST00000381070.3	+	12	1348	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	377					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGTCAAAGAAGGGAACTTCCC	0.383																																						uc003jtn.1		NaN																	0					0						c.(1129-1131)AAG>AAA		serologically defined colon cancer antigen 10							54.0	56.0	55.0					5																	64267618		2203	4300	6503	SO:0001819	synonymous_variant	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64267618G>A	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.1131G>A	5.37:g.64267618G>A						CWC27_uc010iwt.1_Silent_p.K377K	p.K377K	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN			12	1350	+			377			Potential.		O60529|O60530|Q96EM3	Silent	SNP	ENST00000381070.3	37	c.1131G>A	CCDS3982.2																																																																																				0.383	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4		NM_005869		11	40	0	0	0	0.010729	0	11	40		
PIK3R1	5295	broad.mit.edu	37	5	67593263	67593263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:67593263G>A	ENST00000521381.1	+	16	2625	c.2009G>A	c.(2008-2010)tGt>tAt	p.C670Y	PIK3R1_ENST00000274335.5_Missense_Mutation_p.C670Y|PIK3R1_ENST00000521657.1_Missense_Mutation_p.C670Y|PIK3R1_ENST00000320694.8_Missense_Mutation_p.C370Y|PIK3R1_ENST00000396611.1_Missense_Mutation_p.C678Y|PIK3R1_ENST00000336483.5_Missense_Mutation_p.C400Y|PIK3R1_ENST00000523872.1_Missense_Mutation_p.C307Y	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	670	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTAAAGCATTGTGTCATAAAC	0.433			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2		NaN		Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		2	Whole gene deletion(1)|Unknown(1)	p.?(1)	large_intestine(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(2008-2010)TGT>TAT		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						176.0	166.0	169.0					5																	67593263		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67593263G>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.2009G>A	5.37:g.67593263G>A	ENSP00000428056:p.Cys670Tyr	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.C670Y|PIK3R1_uc003jvc.2_Missense_Mutation_p.C370Y|PIK3R1_uc003jvd.2_Missense_Mutation_p.C400Y|PIK3R1_uc003jve.2_Missense_Mutation_p.C349Y	p.C670Y	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	16	2569	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	670			SH2 2.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.2009G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707855	0.68615	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.96	4.96	0.65561	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	N	0.11284	0.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.90652	0.4583	10	0.87932	D	0	-15.1422	18.4084	0.90542	0.0:0.0:1.0:0.0	.	400;370;670	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	Y	670;670;678;670;370;400;307	ENSP00000428056:C670Y;ENSP00000429277:C670Y;ENSP00000379855:C678Y;ENSP00000274335:C670Y;ENSP00000323512:C370Y;ENSP00000338554:C400Y;ENSP00000430098:C307Y	ENSP00000274335:C670Y	C	+	2	0	PIK3R1	67629019	1.000000	0.71417	0.995000	0.50966	0.849000	0.48306	9.657000	0.98554	2.592000	0.87571	0.655000	0.94253	TGT		0.433	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2		NM_181504		40	114	0	0	0	0.00623	0	40	114		
ENC1	8507	broad.mit.edu	37	5	73932241	73932241	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:73932241G>A	ENST00000302351.4	-	2	1200	c.70C>T	c.(70-72)Cac>Tac	p.H24Y	ENC1_ENST00000537006.1_Missense_Mutation_p.H24Y|ENC1_ENST00000510316.1_Intron	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	24					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GAGGACTTGTGAAACAGATAG	0.473																																						uc003kdc.3		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(70-72)CAC>TAC		ectodermal-neural cortex (with BTB-like domain)							56.0	56.0	56.0					5																	73932241		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73932241G>A	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.70C>T	5.37:g.73932241G>A	ENSP00000306356:p.His24Tyr					ENC1_uc011css.1_Intron	p.H24Y	NM_003633	NP_003624	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1201	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	24					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.70C>T	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754210	0.49362	.	.	ENSG00000171617	ENST00000302351;ENST00000537006;ENST00000508331	T;T	0.70631	-0.5;-0.5	5.74	5.74	0.90152	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	L	0.34521	1.04	0.80722	D	1	P	0.37141	0.584	B	0.34180	0.177	T	0.63404	-0.6645	10	0.42905	T	0.14	.	19.9855	0.97347	0.0:0.0:1.0:0.0	.	24	O14682	ENC1_HUMAN	Y	24	ENSP00000306356:H24Y;ENSP00000446289:H24Y	ENSP00000306356:H24Y	H	-	1	0	ENC1	73967997	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.865000	0.99609	2.735000	0.93741	0.556000	0.70494	CAC		0.473	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2		NM_003633		13	30	0	0	0	0.00245	0	13	30		
FAM169A	26049	broad.mit.edu	37	5	74101053	74101053	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:74101053C>T	ENST00000389156.4	-	7	817	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	FAM169A_ENST00000510496.1_Missense_Mutation_p.E183K|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	243						membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CCAACACCTTCAACTTCCCAA	0.388																																						uc003kdm.2		NaN																	0					0						c.(727-729)GAA>AAA		hypothetical protein LOC26049							108.0	105.0	106.0					5																	74101053		1866	4087	5953	SO:0001583	missense	26049							g.chr5:74101053C>T		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.727G>A	5.37:g.74101053C>T	ENSP00000373808:p.Glu243Lys					FAM169A_uc010izm.2_Missense_Mutation_p.E183K|FAM169A_uc003kdl.2_Missense_Mutation_p.E61K	p.E243K	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN			7	770	-			243					A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.727G>A	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043186	0.93685	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	T	0.57273	0.41	5.24	5.24	0.73138	.	0.114714	0.39274	N	0.001414	T	0.63141	0.2486	L	0.61387	1.9	0.80722	D	1	P;P	0.51351	0.944;0.585	P;B	0.50825	0.651;0.316	T	0.67035	-0.5772	10	0.62326	D	0.03	-11.3909	18.8315	0.92141	0.0:1.0:0.0:0.0	.	183;243	D6RB01;Q9Y6X4	.;F169A_HUMAN	K	243;183	ENSP00000373808:E243K	ENSP00000373808:E243K	E	-	1	0	FAM169A	74136809	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.916000	0.56416	2.437000	0.82529	0.585000	0.79938	GAA		0.388	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2				24	67	0	0	0	0.014323	0	24	67		
VCAN	1462	broad.mit.edu	37	5	82815228	82815228	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:82815228C>G	ENST00000265077.3	+	7	1668	c.1103C>G	c.(1102-1104)tCc>tGc	p.S368C	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S368C|VCAN_ENST00000512590.2_Missense_Mutation_p.S320C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	368	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCCAGTTTATCCAAAGAACCA	0.388																																						uc003kii.3		NaN																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(1102-1104)TCC>TGC		versican isoform 1 precursor							129.0	131.0	130.0					5																	82815228		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815228C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1103C>G	5.37:g.82815228C>G	ENSP00000265077:p.Ser368Cys					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S368C|VCAN_uc003kik.3_Intron	p.S368C	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	1459	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	368			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.1103C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793127	0.50102	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.87966	-2.23;-2.3;-2.32	5.88	5.02	0.67125	.	0.111999	0.41938	D	0.000794	D	0.90137	0.6918	M	0.61703	1.905	0.33126	D	0.542387	D;D	0.69078	0.997;0.992	P;P	0.61940	0.896;0.827	D	0.92127	0.5709	10	0.52906	T	0.07	.	9.1382	0.36888	0.0:0.8358:0.0:0.1642	.	368;368	P13611-3;P13611	.;CSPG2_HUMAN	C	368;368;320	ENSP00000265077:S368C;ENSP00000342768:S368C;ENSP00000425959:S320C	ENSP00000265077:S368C	S	+	2	0	VCAN	82850984	0.506000	0.26139	1.000000	0.80357	0.738000	0.42128	0.843000	0.27640	1.495000	0.48549	0.655000	0.94253	TCC		0.388	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385		42	89	0	0	0	0.010771	0	42	89		
CCNH	902	broad.mit.edu	37	5	86700760	86700760	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:86700760C>T	ENST00000256897.4	-	5	814	c.590G>A	c.(589-591)aGa>aAa	p.R197K	CCNH_ENST00000504878.1_Missense_Mutation_p.R123K|CCNH_ENST00000513499.1_5'UTR|CCNH_ENST00000508855.1_Missense_Mutation_p.R123K	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	197					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CAATGCAATTCTATTAAGAAA	0.408								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														uc003kjb.2		NaN																	0				ovary(2)|kidney(1)	3						c.(589-591)AGA>AAA	Direct_reversal_of_damage|NER	cyclin H							95.0	97.0	96.0					5																	86700760		2203	4300	6503	SO:0001583	missense	902				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	g.chr5:86700760C>T	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"""General transcription factor IIH complex subunits"""	1594	protein-coding gene	gene with protein product	"""CDK-activating kinase complex subunit"", ""cyclin-dependent kinase-activating kinase complex subunit"", ""MO15-associated protein"", ""CAK complex subunit"""	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.590G>A	5.37:g.86700760C>T	ENSP00000256897:p.Arg197Lys					CCNH_uc003kiy.1_Intron|CCNH_uc003kiz.1_Missense_Mutation_p.R144K|CCNH_uc003kja.2_Missense_Mutation_p.R144K	p.R197K	NM_001239	NP_001230	P51946	CCNH_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)	5	822	-		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	197					Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	37	c.590G>A	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465181	0.43839	.	.	ENSG00000134480	ENST00000508855;ENST00000256897;ENST00000504878	T;T;T	0.40225	1.04;1.04;1.04	5.47	5.47	0.80525	Cyclin-like (2);	0.050198	0.85682	D	0.000000	T	0.36054	0.0953	L	0.41079	1.255	0.53688	D	0.999975	B;B	0.17465	0.022;0.0	B;B	0.14023	0.01;0.001	T	0.20240	-1.0281	10	0.10902	T	0.67	-8.0057	19.3158	0.94213	0.0:1.0:0.0:0.0	.	197;144	P51946;E9PDB6	CCNH_HUMAN;.	K	123;197;123	ENSP00000426454:R123K;ENSP00000256897:R197K;ENSP00000426075:R123K	ENSP00000256897:R197K	R	-	2	0	CCNH	86736516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.637000	0.67854	2.558000	0.86282	0.655000	0.94253	AGA		0.408	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3		NM_001239		17	37	0	0	0	0.004007	0	17	37		
CCNH	902	broad.mit.edu	37	5	86703827	86703827	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:86703827T>G	ENST00000256897.4	-	4	715	c.491A>C	c.(490-492)tAc>tCc	p.Y164S	CCNH_ENST00000504878.1_Missense_Mutation_p.Y90S|CCNH_ENST00000513499.1_Intron|CCNH_ENST00000508855.1_Missense_Mutation_p.Y90S	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	164					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		AAATGGTCTGTAAGGATTGTG	0.363								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														uc003kjb.2		NaN																	0				ovary(2)|kidney(1)	3						c.(490-492)TAC>TCC	Direct_reversal_of_damage|NER	cyclin H							127.0	123.0	124.0					5																	86703827		2203	4300	6503	SO:0001583	missense	902				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	g.chr5:86703827T>G	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"""General transcription factor IIH complex subunits"""	1594	protein-coding gene	gene with protein product	"""CDK-activating kinase complex subunit"", ""cyclin-dependent kinase-activating kinase complex subunit"", ""MO15-associated protein"", ""CAK complex subunit"""	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.491A>C	5.37:g.86703827T>G	ENSP00000256897:p.Tyr164Ser					CCNH_uc003kiy.1_RNA|CCNH_uc003kiz.1_Missense_Mutation_p.Y111S|CCNH_uc003kja.2_Missense_Mutation_p.Y111S	p.Y164S	NM_001239	NP_001230	P51946	CCNH_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)	4	723	-		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	164					Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	37	c.491A>C	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442941	0.83993	.	.	ENSG00000134480	ENST00000508855;ENST00000256897;ENST00000504878	T;T;T	0.51574	0.7;0.7;0.7	5.29	4.05	0.47172	Cyclin-like (2);	0.055931	0.85682	D	0.000000	T	0.64616	0.2614	M	0.85299	2.745	0.80722	D	1	D;P	0.71674	0.998;0.79	P;B	0.57502	0.822;0.278	T	0.71497	-0.4575	10	0.87932	D	0	-15.2219	11.0668	0.47980	0.1388:0.0:0.0:0.8612	.	164;111	P51946;E9PDB6	CCNH_HUMAN;.	S	90;164;90	ENSP00000426454:Y90S;ENSP00000256897:Y164S;ENSP00000426075:Y90S	ENSP00000256897:Y164S	Y	-	2	0	CCNH	86739583	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	4.757000	0.62213	2.005000	0.58758	0.533000	0.62120	TAC		0.363	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3		NM_001239		27	48	0	0	0	0.00632	0	27	48		
FAM172A	83989	broad.mit.edu	37	5	92956830	92956830	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:92956830C>T	ENST00000395965.3	-	11	1256	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	FAM172A_ENST00000509739.1_Missense_Mutation_p.D225N|FAM172A_ENST00000509163.1_Missense_Mutation_p.D326N|MIR2277_ENST00000515916.1_RNA|FAM172A_ENST00000505869.1_Missense_Mutation_p.D262N	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	372						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCGTGACGGTCGGTGCCTGCA	0.622																																						uc010jbd.2		NaN																	0					0						c.(1114-1116)GAC>AAC		hypothetical protein LOC83989 isoform 1							60.0	62.0	62.0					5																	92956830		2203	4300	6503	SO:0001583	missense	83989					endoplasmic reticulum|extracellular region		g.chr5:92956830C>T		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.1114G>A	5.37:g.92956830C>T	ENSP00000379294:p.Asp372Asn					FAM172A_uc011cuf.1_Missense_Mutation_p.D326N|FAM172A_uc011cug.1_Missense_Mutation_p.D262N|FAM172A_uc011cuh.1_Missense_Mutation_p.D225N|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Silent_p.P101P|MIR2277_hsa-mir-2277|MI0011284_5'Flank	p.D372N	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN			11	1321	-			372					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	ENST00000395965.3	37	c.1114G>A	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395097	0.62066	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T	0.40756	1.02;1.02	3.3	3.3	0.37823	.	0.118028	0.56097	D	0.000040	T	0.14657	0.0354	N	0.01874	-0.695	0.44711	D	0.997707	P;P;B	0.34546	0.456;0.456;0.118	B;B;B	0.18561	0.022;0.022;0.007	T	0.13442	-1.0509	10	0.20046	T	0.44	-10.5959	14.0846	0.64947	0.0:1.0:0.0:0.0	.	225;262;372	B4DMI0;B4DJ14;Q8WUF8	.;.;F172A_HUMAN	N	372;262;225;326	ENSP00000379294:D372N;ENSP00000423841:D326N	ENSP00000379294:D372N	D	-	1	0	FAM172A	92982586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.428000	0.73383	1.824000	0.53156	0.484000	0.47621	GAC		0.622	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3		NM_032042		8	20	0	0	0	0.00308	0	8	20		
MAN2A1	4124	broad.mit.edu	37	5	109202634	109202634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:109202634C>T	ENST00000261483.4	+	22	4422	c.3370C>T	c.(3370-3372)Cag>Tag	p.Q1124*		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1124					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TCCCGGCACTCAGAATATAAG	0.388																																						uc003kou.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3370-3372)CAG>TAG		mannosidase, alpha, class 2A, member 1							128.0	118.0	121.0					5																	109202634		2202	4300	6502	SO:0001587	stop_gained	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109202634C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3370C>T	5.37:g.109202634C>T	ENSP00000261483:p.Gln1124*						p.Q1124*	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	22	4333	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1124			Lumenal (Potential).		Q16767	Nonsense_Mutation	SNP	ENST00000261483.4	37	c.3370C>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	46	12.460067	0.99670	.	.	ENSG00000112893	ENST00000261483	.	.	.	6.03	5.09	0.68999	.	0.279333	0.35124	N	0.003424	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.4719	14.0846	0.64947	0.2751:0.7249:0.0:0.0	.	.	.	.	X	1124	.	.	Q	+	1	0	MAN2A1	109230533	1.000000	0.71417	0.894000	0.35097	0.069000	0.16628	3.432000	0.52824	2.861000	0.98227	0.655000	0.94253	CAG		0.388	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1				33	77	0	0	0	0.010818	0	33	77		
APC	324	broad.mit.edu	37	5	112111406	112111406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:112111406G>C	ENST00000457016.1	+	5	883	c.503G>C	c.(502-504)aGa>aCa	p.R168T	APC_ENST00000257430.4_Missense_Mutation_p.R168T|RNU6-482P_ENST00000391068.1_RNA|APC_ENST00000508376.2_Missense_Mutation_p.R168T			P25054	APC_HUMAN	adenomatous polyposis coli	168	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTCACTAAAAGAATAGATAGT	0.289		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		0				large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(502-504)AGA>ACA		adenomatous polyposis coli							81.0	88.0	86.0					5																	112111406		2202	4297	6499	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112111406G>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.503G>C	5.37:g.112111406G>C	ENSP00000413133:p.Arg168Thr	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.R178T|APC_uc003kpz.3_Missense_Mutation_p.R168T|APC_uc003kpy.3_Missense_Mutation_p.R168T|APC_uc010jbz.2_5'UTR	p.R168T	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	5	883	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	168			Leu-rich.|Potential.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.503G>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729053	0.89390	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.89283	0.6671	L	0.54323	1.7	0.58432	D	0.999994	D;D	0.69078	0.995;0.997	D;D	0.69307	0.963;0.963	D	0.90196	0.4253	10	0.87932	D	0	-23.0596	18.9587	0.92670	0.0:0.0:1.0:0.0	.	170;168	Q4LE70;P25054	.;APC_HUMAN	T	168;178;168;168;168	ENSP00000413133:R168T;ENSP00000423224:R178T;ENSP00000257430:R168T;ENSP00000427089:R168T;ENSP00000423828:R168T	ENSP00000257430:R168T	R	+	2	0	APC	112139305	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.033000	0.93741	2.461000	0.83175	0.655000	0.94253	AGA		0.289	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		NM_000038		29	57	0	0	0	0.007291	0	29	57		
MCC	4163	broad.mit.edu	37	5	112418687	112418687	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:112418687C>T	ENST00000302475.4	-	9	1647	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	MCC_ENST00000408903.3_Missense_Mutation_p.E552K|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.E299K	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	362					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCAGGTGTTCAGCCACACTG	0.423																																						uc003kqj.3		NaN																	0				ovary(1)	1						c.(1084-1086)GAA>AAA		mutated in colorectal cancers isoform 2							129.0	123.0	125.0					5																	112418687		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112418687C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1084G>A	5.37:g.112418687C>T	ENSP00000305617:p.Glu362Lys					MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E552K|MCC_uc011cwb.1_Missense_Mutation_p.E362K|MCC_uc010jcd.1_Missense_Mutation_p.E324K	p.E362K	NM_002387	NP_002378	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	9	1614	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	362					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1084G>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814336	0.70912	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.47528	1.99;2.0;0.84	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	L	0.32530	0.975	0.80722	D	1	P;P;D;P	0.56035	0.956;0.458;0.974;0.956	P;P;D;P	0.70487	0.899;0.678;0.969;0.899	T	0.59473	-0.7448	10	0.46703	T	0.11	-16.6588	18.7709	0.91892	0.0:1.0:0.0:0.0	.	362;324;552;362	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	K	362;299;552	ENSP00000305617:E362K;ENSP00000421615:E299K;ENSP00000386227:E552K	ENSP00000305617:E362K	E	-	1	0	MCC	112446586	1.000000	0.71417	0.906000	0.35671	0.341000	0.28922	6.180000	0.71981	2.497000	0.84241	0.563000	0.77884	GAA		0.423	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3		NM_001085377		20	47	0	0	0	0.008871	0	20	47		
MCC	4163	broad.mit.edu	37	5	112458513	112458513	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:112458513C>T	ENST00000302475.4	-	4	888	c.325G>A	c.(325-327)Gag>Aag	p.E109K	MCC_ENST00000408903.3_Missense_Mutation_p.E299K|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.E46K	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	109					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCTGAGTACTCATCTTCCTCC	0.463																																						uc003kqj.3		NaN																	0				ovary(1)	1						c.(325-327)GAG>AAG		mutated in colorectal cancers isoform 2							123.0	107.0	112.0					5																	112458513		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112458513C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.325G>A	5.37:g.112458513C>T	ENSP00000305617:p.Glu109Lys					MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E299K|MCC_uc011cwb.1_Missense_Mutation_p.E109K|MCC_uc010jcd.1_Missense_Mutation_p.E71K	p.E109K	NM_002387	NP_002378	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	4	855	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	109					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.325G>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	35	5.564733	0.96527	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.74002	-0.8;1.75;0.64	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.81442	0.4823	L	0.43923	1.385	0.80722	D	1	P;P;D;P	0.56035	0.956;0.956;0.974;0.956	P;P;D;P	0.70487	0.899;0.899;0.969;0.899	T	0.74893	-0.3509	10	0.16896	T	0.51	-28.1261	19.5723	0.95425	0.0:1.0:0.0:0.0	.	109;71;299;109	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	K	109;46;299	ENSP00000305617:E109K;ENSP00000421615:E46K;ENSP00000386227:E299K	ENSP00000305617:E109K	E	-	1	0	MCC	112486412	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.183000	0.72002	2.724000	0.93272	0.563000	0.77884	GAG		0.463	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3		NM_001085377		14	28	0	0	0	0.00245	0	14	28		
FEM1C	56929	broad.mit.edu	37	5	114878661	114878661	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:114878661C>G	ENST00000274457.3	-	2	1091	c.530G>C	c.(529-531)aGa>aCa	p.R177T		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	177					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GACACTTTTTCTATTAACATC	0.363																																						uc003krb.1		NaN																	0				breast(2)|ovary(1)	3						c.(529-531)AGA>ACA		feminization 1 homolog a							91.0	93.0	92.0					5																	114878661		2202	4300	6502	SO:0001583	missense	56929					cytoplasm		g.chr5:114878661C>G		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.530G>C	5.37:g.114878661C>G	ENSP00000274457:p.Arg177Thr						p.R177T	NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	2	1092	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	177			ANK 5.		B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	c.530G>C	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657549	0.88154	.	.	ENSG00000145780	ENST00000274457	T	0.64438	-0.1	5.66	5.66	0.87406	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	N	0.13235	0.315	0.58432	D	0.999997	D	0.89917	1.0	D	0.73380	0.98	T	0.67894	-0.5552	10	0.37606	T	0.19	-15.6736	19.7411	0.96231	0.0:1.0:0.0:0.0	.	177	Q96JP0	FEM1C_HUMAN	T	177	ENSP00000274457:R177T	ENSP00000274457:R177T	R	-	2	0	FEM1C	114906560	1.000000	0.71417	0.697000	0.30258	0.995000	0.86356	7.804000	0.85993	2.658000	0.90341	0.585000	0.79938	AGA		0.363	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3		NM_020177		27	83	0	0	0	0.005443	0	27	83		
FEM1C	56929	broad.mit.edu	37	5	114879143	114879143	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:114879143G>A	ENST00000274457.3	-	2	609	c.48C>T	c.(46-48)ctC>ctT	p.L16L		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	16					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TGAGAAGCCGGAGTTTGCCAT	0.468																																						uc003krb.1		NaN																	0				breast(2)|ovary(1)	3						c.(46-48)CTC>CTT		feminization 1 homolog a							53.0	59.0	57.0					5																	114879143		2202	4300	6502	SO:0001819	synonymous_variant	56929					cytoplasm		g.chr5:114879143G>A		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.48C>T	5.37:g.114879143G>A							p.L16L	NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	2	610	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	16			ANK 1.		B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Silent	SNP	ENST00000274457.3	37	c.48C>T	CCDS4118.1																																																																																				0.468	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3		NM_020177		31	30	0	0	0	0.008361	0	31	30		
DMXL1	1657	broad.mit.edu	37	5	118533494	118533494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:118533494C>T	ENST00000311085.8	+	32	7668	c.7588C>T	c.(7588-7590)Ctt>Ttt	p.L2530F	DMXL1_ENST00000539542.1_Missense_Mutation_p.L2530F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2530										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTAAAAACTCTTCAATGTTG	0.403																																						uc003ksd.2		NaN																	0				ovary(2)	2						c.(7588-7590)CTT>TTT		Dmx-like 1							134.0	134.0	134.0					5																	118533494		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118533494C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7588C>T	5.37:g.118533494C>T	ENSP00000309690:p.Leu2530Phe					DMXL1_uc010jcl.1_Missense_Mutation_p.L2530F	p.L2530F	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	32	7769	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2530						Missense_Mutation	SNP	ENST00000311085.8	37	c.7588C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071813	0.76301	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.21191	2.02;2.27	5.41	5.41	0.78517	.	0.125415	0.56097	D	0.000039	T	0.46600	0.1401	M	0.80616	2.505	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.47209	-0.9135	10	0.87932	D	0	-15.9319	11.0297	0.47765	0.0:0.8557:0.0:0.1443	.	2530;2530	F5H269;Q9Y485	.;DMXL1_HUMAN	F	2530	ENSP00000309690:L2530F;ENSP00000439479:L2530F	ENSP00000309690:L2530F	L	+	1	0	DMXL1	118561393	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.660000	0.37397	2.695000	0.91970	0.563000	0.77884	CTT		0.403	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1		NM_005509		29	100	0	0	0	0.008361	0	29	100		
DMXL1	1657	broad.mit.edu	37	5	118533569	118533569	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:118533569C>T	ENST00000311085.8	+	32	7743	c.7663C>T	c.(7663-7665)Cat>Tat	p.H2555Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.H2555Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2555										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATCGCAAGTCATACCGCCGA	0.428																																						uc003ksd.2		NaN																	0				ovary(2)	2						c.(7663-7665)CAT>TAT		Dmx-like 1							124.0	124.0	124.0					5																	118533569		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118533569C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7663C>T	5.37:g.118533569C>T	ENSP00000309690:p.His2555Tyr					DMXL1_uc010jcl.1_Missense_Mutation_p.H2555Y	p.H2555Y	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	32	7844	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2555						Missense_Mutation	SNP	ENST00000311085.8	37	c.7663C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	1.354	-0.590498	0.03799	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09163	3.02;3.01	5.13	4.26	0.50523	.	0.282851	0.43110	N	0.000614	T	0.05364	0.0142	N	0.11313	0.125	0.41946	D	0.990632	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.16424	-1.0403	10	0.02654	T	1	-9.2598	13.9061	0.63836	0.0:0.9259:0.0:0.074	.	2555;2555	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	2555	ENSP00000309690:H2555Y;ENSP00000439479:H2555Y	ENSP00000309690:H2555Y	H	+	1	0	DMXL1	118561468	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	4.315000	0.59172	1.290000	0.44636	0.462000	0.41574	CAT		0.428	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1		NM_005509		30	117	0	0	0	0.009535	0	30	117		
SNCAIP	9627	broad.mit.edu	37	5	121758693	121758693	+	Silent	SNP	G	G	A	rs372883371		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:121758693G>A	ENST00000261368.8	+	4	523	c.261G>A	c.(259-261)gaG>gaA	p.E87E	SNCAIP_ENST00000379533.2_Silent_p.E134E|SNCAIP_ENST00000261367.7_Silent_p.E134E|SNCAIP_ENST00000379536.2_Silent_p.E87E|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Silent_p.E134E|SNCAIP_ENST00000379538.3_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	87					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATCAGCCAGAGACTCTGGAGA	0.507																																						uc003ksw.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(259-261)GAG>GAA		synuclein alpha interacting protein							60.0	62.0	62.0					5																	121758693		2203	4300	6503	SO:0001819	synonymous_variant	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121758693G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.261G>A	5.37:g.121758693G>A						SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Silent_p.E87E|SNCAIP_uc003ksx.1_Silent_p.E134E|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Silent_p.E87E	p.E87E	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	4	467	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	87					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	c.261G>A	CCDS4131.1																																																																																				0.507	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1				17	35	0	0	0	0.00499	0	17	35		
ZNF608	57507	broad.mit.edu	37	5	124036770	124036770	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:124036770C>G	ENST00000306315.5	-	2	1534	c.1099G>C	c.(1099-1101)Ggg>Cgg	p.G367R	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	367							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCACAGGGCCCAAGACACTCT	0.453																																						uc003ktq.1		NaN																	0				skin(3)|ovary(2)|lung(1)	6						c.(1099-1101)GGG>CGG		zinc finger protein 608							108.0	103.0	105.0					5																	124036770		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:124036770C>G	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1099G>C	5.37:g.124036770C>G	ENSP00000307746:p.Gly367Arg					ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.G367R|ZNF608_uc003ktt.1_Missense_Mutation_p.G367R	p.G367R	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	2	1222	-		all_cancers(142;0.186)|Prostate(80;0.081)	367					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1099G>C	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993152	0.93167	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.68331	-0.32	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.82070	0.4957	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82277	-0.0537	10	0.87932	D	0	-20.2055	20.3539	0.98825	0.0:1.0:0.0:0.0	.	367	Q9ULD9	ZN608_HUMAN	R	367	ENSP00000307746:G367R	ENSP00000307746:G367R	G	-	1	0	ZNF608	124064669	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	7.463000	0.80869	2.826000	0.97356	0.655000	0.94253	GGG		0.453	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432		15	66	0	0	0	0.004007	0	15	66		
ZNF608	57507	broad.mit.edu	37	5	124036909	124036909	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:124036909G>A	ENST00000306315.5	-	2	1395	c.960C>T	c.(958-960)ctC>ctT	p.L320L	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	320							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCTGAGGCGTGAGACTGCTGG	0.512																																						uc003ktq.1		NaN																	0				skin(3)|ovary(2)|lung(1)	6						c.(958-960)CTC>CTT		zinc finger protein 608							143.0	138.0	140.0					5																	124036909		2203	4300	6503	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:124036909G>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.960C>T	5.37:g.124036909G>A						ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.L320L|ZNF608_uc003ktt.1_Silent_p.L320L	p.L320L	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	2	1083	-		all_cancers(142;0.186)|Prostate(80;0.081)	320					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.960C>T	CCDS34219.1																																																																																				0.512	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432		14	50	0	0	0	0.010504	0	14	50		
ZNF608	57507	broad.mit.edu	37	5	124080028	124080028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:124080028G>A	ENST00000306315.5	-	1	1090	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	219							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGGTGGCCCTGAAGCAGGTCG	0.617																																						uc003ktq.1		NaN																	0				skin(3)|ovary(2)|lung(1)	6						c.(655-657)CAG>TAG		zinc finger protein 608							48.0	50.0	50.0					5																	124080028		2203	4300	6503	SO:0001587	stop_gained	57507					intracellular	zinc ion binding	g.chr5:124080028G>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.655C>T	5.37:g.124080028G>A	ENSP00000307746:p.Gln219*					ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Nonsense_Mutation_p.Q219*|ZNF608_uc003ktt.1_Nonsense_Mutation_p.Q219*	p.Q219*	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	778	-		all_cancers(142;0.186)|Prostate(80;0.081)	219					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Nonsense_Mutation	SNP	ENST00000306315.5	37	c.655C>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	43	10.288727	0.99376	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	.	.	.	4.49	4.49	0.54785	.	0.000000	0.48767	D	0.000178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-11.3914	17.1503	0.86776	0.0:0.0:1.0:0.0	.	.	.	.	X	219	.	ENSP00000307746:Q219X	Q	-	1	0	ZNF608	124107927	1.000000	0.71417	0.607000	0.28956	0.992000	0.81027	5.076000	0.64413	2.223000	0.72356	0.655000	0.94253	CAG		0.617	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432		41	29	0	0	0	0.01441	0	41	29		
FNIP1	96459	broad.mit.edu	37	5	131039796	131039796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:131039796C>G	ENST00000510461.1	-	10	1173	c.1078G>C	c.(1078-1080)Gaa>Caa	p.E360Q	FNIP1_ENST00000307954.8_Missense_Mutation_p.E315Q|FNIP1_ENST00000511848.1_Missense_Mutation_p.E360Q|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.E332Q	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	360					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ATGTGGCTTTCAAAGAGAGGA	0.274																																						uc003kvs.1		NaN																	0				pancreas(1)|skin(1)	2						c.(1078-1080)GAA>CAA		folliculin interacting protein 1 isoform 1							39.0	43.0	41.0					5																	131039796		2202	4293	6495	SO:0001583	missense	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131039796C>G	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1078G>C	5.37:g.131039796C>G	ENSP00000421985:p.Glu360Gln					RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.E332Q|FNIP1_uc010jdm.1_Missense_Mutation_p.E315Q|FNIP1_uc003kvu.2_Missense_Mutation_p.E360Q	p.E360Q	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	10	1220	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	360					D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.1078G>C	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980129	0.92982	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.75	5.75	0.90469	.	.	.	.	.	T	0.70824	0.3268	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.997;1.0	T	0.74272	-0.3719	9	0.72032	D	0.01	-11.5017	19.9522	0.97203	0.0:1.0:0.0:0.0	.	360;360;332;360	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	Q	332;315;120;360;360	ENSP00000309266:E332Q;ENSP00000310453:E315Q;ENSP00000421985:E360Q;ENSP00000425619:E360Q	ENSP00000310453:E315Q	E	-	1	0	FNIP1	131067695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.783000	0.85696	2.725000	0.93324	0.655000	0.94253	GAA		0.274	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1		NM_133372		14	55	0	0	0	0.00245	0	14	55		
LEAP2	116842	broad.mit.edu	37	5	132209663	132209663	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:132209663G>C	ENST00000296877.2	+	2	1452	c.79G>C	c.(79-81)Gaa>Caa	p.E27Q	LEAP2_ENST00000485457.1_3'UTR	NM_052971.2	NP_443203.1	Q969E1	LEAP2_HUMAN	liver expressed antimicrobial peptide 2	27					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				NS(1)|endometrium(1)	2		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAATACCAGAAGTGAGTTC	0.512																																						uc003kyc.2		NaN																	0					0						c.(79-81)GAA>CAA		liver-expressed antimicrobial peptide 2							83.0	81.0	82.0					5																	132209663		2203	4300	6503	SO:0001583	missense	116842				defense response to bacterium	extracellular region		g.chr5:132209663G>C	AJ409065, BX443829	CCDS4163.1	5q31.1	2008-02-05			ENSG00000164406	ENSG00000164406			29571	protein-coding gene	gene with protein product		611373				12493837	Standard	NM_052971		Approved	LEAP-2	uc003kyc.3	Q969E1	OTTHUMG00000059837	ENST00000296877.2:c.79G>C	5.37:g.132209663G>C	ENSP00000296877:p.Glu27Gln					LEAP2_uc003kyb.1_Missense_Mutation_p.E27Q	p.E27Q	NM_052971	NP_443203	Q969E1	LEAP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	108	+		all_cancers(142;0.145)|Breast(839;0.198)	27					D3DQ91	Missense_Mutation	SNP	ENST00000296877.2	37	c.79G>C	CCDS4163.1	.	.	.	.	.	.	.	.	.	.	G	2.632	-0.286104	0.05605	.	.	ENSG00000164406	ENST00000296877	.	.	.	6.07	3.2	0.36748	.	0.734122	0.13801	N	0.361804	T	0.37919	0.1021	.	.	.	0.09310	N	1	B;B	0.17852	0.001;0.024	B;B	0.21151	0.013;0.033	T	0.24012	-1.0172	8	0.33141	T	0.24	-13.0297	14.4333	0.67266	0.0:0.4235:0.5765:0.0	.	27;27	Q969E1;Q7Z5F5	LEAP2_HUMAN;.	Q	27	.	ENSP00000296877:E27Q	E	+	1	0	LEAP2	132237562	0.008000	0.16893	0.008000	0.14137	0.043000	0.13939	0.900000	0.28431	0.873000	0.35799	-0.176000	0.13171	GAA		0.512	LEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133046.1		NM_052971		34	20	0	0	0	0.003271	0	34	20		
FSTL4	23105	broad.mit.edu	37	5	132534795	132534795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:132534795C>T	ENST00000265342.7	-	16	2770	c.2521G>A	c.(2521-2523)Gag>Aag	p.E841K	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	841						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCATACCTCACCCACCCAC	0.557																																						uc003kyn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(2521-2523)GAG>AAG		follistatin-like 4 precursor							48.0	47.0	47.0					5																	132534795		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132534795C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2521G>A	5.37:g.132534795C>T	ENSP00000265342:p.Glu841Lys					FSTL4_uc003kym.1_Missense_Mutation_p.E490K	p.E841K	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2739	-		all_cancers(142;0.244)	841					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2521G>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212492	0.79240	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.62364	0.03	5.24	5.24	0.73138	Immunoglobulin-like (1);	0.183347	0.48286	D	0.000192	T	0.78848	0.4348	M	0.78637	2.42	0.80722	D	1	D;D	0.71674	0.986;0.998	P;D	0.64687	0.84;0.928	T	0.81944	-0.0701	10	0.87932	D	0	-31.494	17.4006	0.87459	0.0:1.0:0.0:0.0	.	841;490	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	K	841;672	ENSP00000265342:E841K	ENSP00000265342:E841K	E	-	1	0	FSTL4	132562694	1.000000	0.71417	0.995000	0.50966	0.309000	0.27889	7.487000	0.81328	2.446000	0.82766	0.650000	0.86243	GAG		0.557	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1		XM_048786		7	21	0	0	0	0.00308	0	7	21		
FSTL4	23105	broad.mit.edu	37	5	132535121	132535121	+	Missense_Mutation	SNP	G	G	A	rs551036078		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:132535121G>A	ENST00000265342.7	-	16	2444	c.2195C>T	c.(2194-2196)tCg>tTg	p.S732L	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	732						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGATGCCCGAGTTTATTTG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		20630	0.0		0.001	False		,,,				2504	0.0					uc003kyn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(2194-2196)TCG>TTG		follistatin-like 4 precursor							88.0	85.0	86.0					5																	132535121		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132535121G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2195C>T	5.37:g.132535121G>A	ENSP00000265342:p.Ser732Leu					FSTL4_uc003kym.1_Missense_Mutation_p.S381L	p.S732L	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2413	-		all_cancers(142;0.244)	732					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2195C>T	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.173963	0.00312	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.21543	2.0	4.76	-0.506	0.11989	WD40/YVTN repeat-like-containing domain (1);	1.179390	0.06005	N	0.648433	T	0.04227	0.0117	N	0.00436	-1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38478	-0.9659	10	0.02654	T	1	-8.6729	4.1673	0.10313	0.271:0.0:0.4478:0.2812	.	732;381	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	L	732;563	ENSP00000265342:S732L	ENSP00000265342:S732L	S	-	2	0	FSTL4	132563020	0.000000	0.05858	0.013000	0.15412	0.016000	0.09150	0.326000	0.19646	0.001000	0.14605	0.585000	0.79938	TCG		0.572	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1		XM_048786		17	37	0	0	0	0.004007	0	17	37		
C5orf15	56951	broad.mit.edu	37	5	133295697	133295697	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:133295697C>T	ENST00000231512.3	-	2	356	c.154G>A	c.(154-156)Gat>Aat	p.D52N	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	52						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CTCGGTGAATCAGTCCGTGAT	0.368																																						uc003kyo.2		NaN																	0					0						c.(154-156)GAT>AAT		keratinocytes associated transmembrane protein 2							58.0	57.0	57.0					5																	133295697		2203	4300	6503	SO:0001583	missense	56951					integral to membrane		g.chr5:133295697C>T	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"""keratinocytes associated transmembrane protein 2"""						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.154G>A	5.37:g.133295697C>T	ENSP00000231512:p.Asp52Asn						p.D52N	NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		2	285	-			52			Extracellular (Potential).		B2RD10|D3DQ92|Q9NRG2	Missense_Mutation	SNP	ENST00000231512.3	37	c.154G>A	CCDS4167.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276656	0.23307	.	.	ENSG00000113583	ENST00000231512	.	.	.	3.62	0.24	0.15489	.	1.452900	0.04156	N	0.322201	T	0.18383	0.0441	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16129	-1.0413	9	0.33940	T	0.23	0.5023	3.1555	0.06503	0.0:0.4608:0.2194:0.3198	.	52	Q8NC54	KCT2_HUMAN	N	52	.	ENSP00000231512:D52N	D	-	1	0	C5orf15	133323596	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.523000	0.06230	0.023000	0.15187	0.557000	0.71058	GAT		0.368	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251175.1		NM_020199		19	32	0	0	0	0.010504	0	19	32		
DCANP1	140947	broad.mit.edu	37	5	134785161	134785161	+	5'Flank	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:134785161G>C	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Missense_Mutation_p.P157A|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACCAGGGGGAGGCTGCCCC	0.582																																						uc003law.3		NaN																	0					0						c.(469-471)CCC>GCC		TIFA-related protein TIFAB							56.0	59.0	58.0					5																	134785161		1910	4122	6032	SO:0001631	upstream_gene_variant	497189							g.chr5:134785161G>C																													5.37:g.134785161G>C	Exception_encountered					C5orf20_uc003lav.2_5'Flank	p.P157A	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	670	-			157						Missense_Mutation	SNP	ENST00000503143.2	37	c.469C>G	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.440269	0.01098	.	.	ENSG00000255833	ENST00000537858	T	0.38240	1.15	5.28	0.132	0.14762	.	.	.	.	.	T	0.20088	0.0483	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.25813	-1.0121	9	0.22109	T	0.4	.	7.5036	0.27532	0.1329:0.4687:0.3983:0.0	.	157	Q6ZNK6	TIFAB_HUMAN	A	157	ENSP00000440509:P157A	ENSP00000440509:P157A	P	-	1	0	TIFAB	134813060	0.004000	0.15560	0.155000	0.22561	0.184000	0.23303	0.240000	0.18042	0.182000	0.20032	-0.300000	0.09419	CCC		0.582	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1				18	68	0	0	0	0.00499	0	18	68		
MATR3	9782	broad.mit.edu	37	5	138661216	138661216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:138661216G>T	ENST00000394805.3	+	13	2571	c.2236G>T	c.(2236-2238)Gaa>Taa	p.E746*	MATR3_ENST00000503811.1_Nonsense_Mutation_p.E458*|MATR3_ENST00000361059.2_Nonsense_Mutation_p.E746*|MATR3_ENST00000509990.1_Nonsense_Mutation_p.E746*|MATR3_ENST00000502499.1_Nonsense_Mutation_p.E408*|MATR3_ENST00000394800.2_Nonsense_Mutation_p.E794*|MATR3_ENST00000510056.1_Nonsense_Mutation_p.E746*|MATR3_ENST00000504203.1_Nonsense_Mutation_p.E408*|MATR3_ENST00000502929.1_Nonsense_Mutation_p.E794*	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	746					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.E182Q(1)|p.E746Q(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACCAGGTGCTGAATCTTCTGA	0.408																																						uc003ldu.2		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2236-2238)GAA>TAA		matrin 3							95.0	95.0	95.0					5																	138661216		2203	4300	6503	SO:0001587	stop_gained	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138661216G>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.2236G>T	5.37:g.138661216G>T	ENSP00000378284:p.Glu746*					MATR3_uc003ldt.2_Nonsense_Mutation_p.E408*|MATR3_uc003ldw.2_Nonsense_Mutation_p.E794*|MATR3_uc003ldx.2_Nonsense_Mutation_p.E746*|MATR3_uc010jfc.2_Nonsense_Mutation_p.E746*|MATR3_uc011czb.1_Nonsense_Mutation_p.E458*|MATR3_uc003ldz.2_Nonsense_Mutation_p.E746*|MATR3_uc003lea.2_Nonsense_Mutation_p.E746*|MATR3_uc003leb.2_Nonsense_Mutation_p.E408*|MATR3_uc003lec.2_Nonsense_Mutation_p.E423*	p.E746*	NM_199189	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		16	2663	+			746					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Nonsense_Mutation	SNP	ENST00000394805.3	37	c.2236G>T	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	G	44	10.822847	0.99473	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000503811;ENST00000337359	.	.	.	4.51	4.51	0.55191	.	0.429079	0.27143	N	0.020736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-7.9041	15.9513	0.79840	0.0:0.0:1.0:0.0	.	.	.	.	X	746;746;408;794;794;746;408;746;458;182	.	ENSP00000338208:E182X	E	+	1	0	MATR3	138689115	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.956000	0.76013	2.506000	0.84524	0.557000	0.71058	GAA		0.408	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2		NM_018834		18	55	1	0	1.33834e-09	0.007413	1.38957e-09	18	55		
MATR3	9782	broad.mit.edu	37	5	138665072	138665072	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:138665072G>C	ENST00000394805.3	+	15	2867	c.2532G>C	c.(2530-2532)aaG>aaC	p.K844N	MATR3_ENST00000503811.1_Missense_Mutation_p.K556N|MATR3_ENST00000361059.2_Missense_Mutation_p.K844N|MATR3_ENST00000509990.1_Missense_Mutation_p.K844N|MATR3_ENST00000502499.1_Missense_Mutation_p.K506N|MATR3_ENST00000394800.2_Missense_Mutation_p.K892N|MATR3_ENST00000510056.1_3'UTR|MATR3_ENST00000504203.1_Missense_Mutation_p.K506N|MATR3_ENST00000502929.1_Missense_Mutation_p.K892N	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	844					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCAGACAGAAGAAGGAAACTT	0.289																																						uc003ldu.2		NaN																	0				ovary(1)	1						c.(2530-2532)AAG>AAC		matrin 3							76.0	85.0	82.0					5																	138665072		2203	4293	6496	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138665072G>C	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.2532G>C	5.37:g.138665072G>C	ENSP00000378284:p.Lys844Asn					MATR3_uc003ldt.2_Missense_Mutation_p.K506N|MATR3_uc003ldw.2_Missense_Mutation_p.K892N|MATR3_uc003ldx.2_Missense_Mutation_p.K844N|MATR3_uc010jfc.2_3'UTR|MATR3_uc011czb.1_Missense_Mutation_p.K556N|MATR3_uc003ldz.2_Missense_Mutation_p.K844N|MATR3_uc003lea.2_Missense_Mutation_p.K844N|MATR3_uc003leb.2_Missense_Mutation_p.K506N|MATR3_uc003lec.2_Missense_Mutation_p.K521N	p.K844N	NM_199189	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		18	2959	+			844					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.2532G>C	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721664	0.48728	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000503811;ENST00000337359	T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.3;-0.81;-0.81;-0.86;-0.3;-0.3	5.27	4.4	0.53042	.	0.134138	0.64402	D	0.000003	T	0.78547	0.4300	L	0.42245	1.32	0.43271	D	0.995226	B;B;D;B	0.59357	0.155;0.319;0.985;0.048	B;B;D;B	0.68483	0.034;0.034;0.958;0.021	T	0.76476	-0.2945	10	0.37606	T	0.19	-9.7875	9.9693	0.41743	0.1571:0.0:0.8429:0.0	.	556;556;892;844	B7ZAV5;B4DRS1;A8MXP9;P43243	.;.;.;MATR3_HUMAN	N	844;844;506;892;892;844;506;556;280	ENSP00000423533:K844N;ENSP00000354346:K844N;ENSP00000421218:K506N;ENSP00000422319:K892N;ENSP00000378279:K892N;ENSP00000378284:K844N;ENSP00000426030:K506N;ENSP00000423587:K556N	ENSP00000338208:K280N	K	+	3	2	MATR3	138692971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.401000	0.59716	1.368000	0.46115	0.650000	0.86243	AAG		0.289	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2		NM_018834		17	88	0	0	0	0.004007	0	17	88		
ANKHD1	54882	broad.mit.edu	37	5	139905595	139905595	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:139905595C>T	ENST00000360839.2	+	26	4661	c.4507C>T	c.(4507-4509)Ccc>Tcc	p.P1503S	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1503S|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_5'Flank|ANKHD1_ENST00000297183.6_Missense_Mutation_p.P1503S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1503						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGAAGTTCCCATAGAACC	0.358																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(4507-4509)CCC>TCC		ANKHD1-EIF4EBP3 protein							64.0	67.0	66.0					5																	139905595		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139905595C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4507C>T	5.37:g.139905595C>T	ENSP00000354085:p.Pro1503Ser					ANKHD1_uc003lfr.2_Missense_Mutation_p.P1503S|ANKHD1_uc003lfu.1_Missense_Mutation_p.P983S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P242S|ANKHD1_uc003lfw.2_Missense_Mutation_p.P141S|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	p.P1503S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4631	+			1503					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.4507C>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611554	0.66558	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000431508;ENST00000433049;ENST00000532219	T;T;T;T;T;T	0.67171	-0.21;-0.25;-0.09;1.78;1.57;-0.25	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.998;0.994;0.994	T	0.71718	-0.4508	10	0.19590	T	0.45	.	19.1337	0.93417	0.0:1.0:0.0:0.0	.	1503;1503;1503;1503	E9PF56;Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;.;ANKH1_HUMAN	S	1503;1503;1503;1522;159;25;1503	ENSP00000354085:P1503S;ENSP00000297183:P1503S;ENSP00000394489:P1522S;ENSP00000393204:P159S;ENSP00000390034:P25S;ENSP00000432016:P1503S	ENSP00000432016:P1503S	P	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139885779	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.442000	0.80503	2.525000	0.85131	0.460000	0.39030	CCC		0.358	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		24	76	0	0	0	0.00278	0	24	76		
PCDHA9	9752	broad.mit.edu	37	5	140230192	140230192	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140230192C>G	ENST00000532602.1	+	1	3145	c.2112C>G	c.(2110-2112)atC>atG	p.I704M	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.I704M|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	704					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCGCCATCTGCGCGGTGT	0.662																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NaN																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(2110-2112)ATC>ATG		protocadherin alpha 9 isoform 1 precursor							82.0	74.0	77.0					5																	140230192		2196	4274	6470	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140230192C>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2112C>G	5.37:g.140230192C>G	ENSP00000436042:p.Ile704Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.I704M	p.I704M	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2836	+			704			Helical; (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.2112C>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441575	0.43326	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.19938	2.11;2.11	4.3	1.36	0.22044	.	0.000000	0.32175	U	0.006461	T	0.53190	0.1781	H	0.95151	3.63	0.26841	N	0.968374	D;D	0.76494	0.994;0.999	P;D	0.83275	0.863;0.996	T	0.50448	-0.8827	10	0.87932	D	0	.	9.0606	0.36431	0.0:0.6797:0.0:0.3203	.	704;704	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	704	ENSP00000436042:I704M;ENSP00000367362:I704M	ENSP00000367362:I704M	I	+	3	3	PCDHA9	140210376	0.764000	0.28473	1.000000	0.80357	0.592000	0.36648	0.003000	0.13083	0.332000	0.23536	0.491000	0.48974	ATC		0.662	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857		31	31	0	0	0	0.009535	0	31	31		
PCDHAC1	56135	broad.mit.edu	37	5	140308755	140308755	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140308755C>T	ENST00000253807.2	+	1	2278	c.2278C>T	c.(2278-2280)Ctg>Ttg	p.L760L	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L760L|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	760					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGCCTCTCTGGGACTTGG	0.463																																						uc003lih.2		NaN																	0				skin(3)|ovary(2)	5						c.(2278-2280)CTG>TTG		protocadherin alpha subfamily C, 1 isoform 1							110.0	108.0	109.0					5																	140308755		2203	4300	6503	SO:0001819	synonymous_variant	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140308755C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2278C>T	5.37:g.140308755C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.L760L	p.L760L	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2454	+			760			Cytoplasmic (Potential).		Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	c.2278C>T	CCDS4241.1																																																																																				0.463	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1		NM_018898		54	66	0	0	0	0.01441	0	54	66		
PCDHB1	29930	broad.mit.edu	37	5	140431478	140431478	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140431478G>A	ENST00000306549.3	+	1	500	c.423G>A	c.(421-423)aaG>aaA	p.K141K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	141	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K141N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTTTTAAAGATTCCGGAGA	0.547																																						uc003lik.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(421-423)AAG>AAA		protocadherin beta 1 precursor							35.0	37.0	36.0					5																	140431478		2203	4300	6503	SO:0001819	synonymous_variant	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431478G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.423G>A	5.37:g.140431478G>A							p.K141K	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	500	+			141			Cadherin 2.|Extracellular (Potential).		Q2M257	Silent	SNP	ENST00000306549.3	37	c.423G>A	CCDS4243.1																																																																																				0.547	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2		NM_013340		8	41	0	0	0	0.00308	0	8	41		
PCDHB4	56131	broad.mit.edu	37	5	140502976	140502976	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140502976G>A	ENST00000194152.1	+	1	1396	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	466	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.647																																						uc003lip.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1396-1398)GCC>ACC		protocadherin beta 4 precursor							51.0	55.0	53.0					5																	140502976		2201	4273	6474	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502976G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1396G>A	5.37:g.140502976G>A	ENSP00000194152:p.Ala466Thr						p.A466T	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1396	+			466			Cadherin 5.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1396G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274832	0.80580	.	.	ENSG00000081818	ENST00000194152	T	0.60548	0.18	4.1	4.1	0.47936	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.68183	0.2973	L	0.49640	1.575	0.38494	D	0.948044	D	0.76494	0.999	D	0.74348	0.983	T	0.72727	-0.4206	9	0.87932	D	0	.	11.5675	0.50813	0.0903:0.0:0.9097:0.0	.	466	Q9Y5E5	PCDB4_HUMAN	T	466	ENSP00000194152:A466T	ENSP00000194152:A466T	A	+	1	0	PCDHB4	140483160	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.737000	0.26144	2.307000	0.77673	0.650000	0.86243	GCC		0.647	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2		NM_018938		26	44	0	0	0	0.004289	0	26	44		
PCDHB11	56125	broad.mit.edu	37	5	140579748	140579748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140579748C>T	ENST00000354757.3	+	1	401	c.401C>T	c.(400-402)tCg>tTg	p.S134L	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	134					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCATCTTCTCGGAAAAACAA	0.428																																						uc003liy.2		NaN																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(400-402)TCG>TTG		protocadherin beta 11 precursor							133.0	148.0	143.0					5																	140579748		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579748C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.401C>T	5.37:g.140579748C>T	ENSP00000346802:p.Ser134Leu					PCDHB11_uc011daj.1_Intron	p.S134L	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	401	+			134			Extracellular (Potential).		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.401C>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.264316	0.23136	.	.	ENSG00000197479	ENST00000354757	T	0.19669	2.13	2.8	2.8	0.32819	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.07683	0.0193	N	0.05280	-0.08	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41124	-0.9526	9	0.08179	T	0.78	.	3.9384	0.09316	0.0:0.2226:0.1855:0.592	.	134	Q9Y5F2	PCDBB_HUMAN	L	134	ENSP00000346802:S134L	ENSP00000346802:S134L	S	+	2	0	PCDHB11	140559932	0.000000	0.05858	0.020000	0.16555	0.886000	0.51366	-1.364000	0.02590	0.301000	0.22738	-0.516000	0.04426	TCG		0.428	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1		NM_018931		43	151	0	0	0	0.009718	0	43	151		
PCDHGA5	56110	broad.mit.edu	37	5	140744168	140744168	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140744168G>A	ENST00000518069.1	+	1	271	c.271G>A	c.(271-273)Gac>Aac	p.D91N	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	91	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGGATAGACCGGGAGGA	0.542																																						uc003lju.1		NaN																	0				ovary(4)	4						c.(271-273)GAC>AAC		protocadherin gamma subfamily A, 5 isoform 1							53.0	62.0	59.0					5																	140744168		2191	4297	6488	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140744168G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.271G>A	5.37:g.140744168G>A	ENSP00000429834:p.Asp91Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D91N	p.D91N	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	271	+			91			Cadherin 1.|Extracellular (Potential).		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.271G>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.839403	0.91117	.	.	ENSG00000253485	ENST00000518069	T	0.52295	0.67	5.38	5.38	0.77491	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.82061	0.4955	H	0.98559	4.265	0.43439	D	0.995618	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88860	0.3325	9	0.72032	D	0.01	.	19.1672	0.93562	0.0:0.0:1.0:0.0	.	91;91	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	N	91	ENSP00000429834:D91N	ENSP00000429834:D91N	D	+	1	0	PCDHGA5	140724352	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.970000	0.88000	2.694000	0.91930	0.558000	0.71614	GAC		0.542	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1		NM_018918		20	33	0	0	0	0.00278	0	20	33		
PCDHGB6	56100	broad.mit.edu	37	5	140788029	140788029	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140788029A>C	ENST00000520790.1	+	1	260	c.260A>C	c.(259-261)aAg>aCg	p.K87T	PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTTGTGAAGAACCGAATA	0.488																																						uc003lkj.1		NaN																	0					0						c.(259-261)AAG>ACG		protocadherin gamma subfamily B, 6 isoform 1							160.0	168.0	165.0					5																	140788029		1943	4148	6091	SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140788029A>C	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.260A>C	5.37:g.140788029A>C	ENSP00000428603:p.Lys87Thr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.K87T	p.K87T	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	260	+			87			Extracellular (Potential).|Cadherin 1.		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.260A>C	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	a	9.315	1.056632	0.19907	.	.	ENSG00000253305	ENST00000520790	T	0.28895	1.59	5.38	2.96	0.34315	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.23289	0.0563	L	0.43152	1.355	0.09310	N	1	B;B	0.32467	0.372;0.321	B;B	0.36030	0.216;0.138	T	0.27938	-1.0059	9	0.40728	T	0.16	.	1.0466	0.01571	0.4617:0.1537:0.2352:0.1493	.	87;87	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	T	87	ENSP00000428603:K87T	ENSP00000428603:K87T	K	+	2	0	PCDHGB6	140768213	0.000000	0.05858	1.000000	0.80357	0.939000	0.58152	-0.028000	0.12350	0.845000	0.35118	0.383000	0.25322	AAG		0.488	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1		NM_018926		28	78	0	0	0	0.00632	0	28	78		
YIPF5	81555	broad.mit.edu	37	5	143549462	143549462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:143549462C>T	ENST00000274496.5	-	2	192	c.58G>A	c.(58-60)Gat>Aat	p.D20N	YIPF5_ENST00000513112.1_Intron|KCTD16_ENST00000512467.1_5'Flank|YIPF5_ENST00000448443.2_Missense_Mutation_p.D20N	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	20					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGTGACTGATCATCGATGCTG	0.358																																						uc003lnk.3		NaN																	0				ovary(1)|skin(1)	2						c.(58-60)GAT>AAT		Yip1 domain family, member 5							174.0	170.0	171.0					5																	143549462		2203	4300	6503	SO:0001583	missense	81555				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane		g.chr5:143549462C>T	AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"""Yip1 domain family"""	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.58G>A	5.37:g.143549462C>T	ENSP00000274496:p.Asp20Asn					KCTD16_uc003lnm.1_5'Flank|YIPF5_uc003lnl.3_Missense_Mutation_p.D20N|YIPF5_uc010jgl.2_Intron	p.D20N	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	499	-		all_hematologic(541;0.118)	20			Cytoplasmic (Potential).		D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Missense_Mutation	SNP	ENST00000274496.5	37	c.58G>A	CCDS4279.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673117	0.47781	.	.	ENSG00000145817	ENST00000274496;ENST00000377986;ENST00000448443;ENST00000536767	T;T	0.62232	0.04;0.04	6.17	6.17	0.99709	.	0.136552	0.64402	D	0.000004	T	0.51398	0.1672	L	0.29908	0.895	0.80722	D	1	B	0.28082	0.2	B	0.27715	0.082	T	0.48019	-0.9071	10	0.07990	T	0.79	-18.8677	20.4745	0.99168	0.0:1.0:0.0:0.0	.	20	Q969M3	YIPF5_HUMAN	N	20	ENSP00000274496:D20N;ENSP00000397704:D20N	ENSP00000274496:D20N	D	-	1	0	YIPF5	143529655	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.312000	0.78968	2.941000	0.99782	0.655000	0.94253	GAT		0.358	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1		NM_030799		82	55	0	0	0	0.01441	0	82	55		
GRXCR2	643226	broad.mit.edu	37	5	145252343	145252343	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:145252343A>G	ENST00000377976.1	-	1	188	c.189T>C	c.(187-189)ggT>ggC	p.G63G		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	63						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ACCCATAAACACCATCCATTG	0.498																																						uc003lns.1		NaN																	0					0						c.(187-189)GGT>GGC		glutaredoxin, cysteine rich 2							95.0	95.0	95.0					5																	145252343		2203	4300	6503	SO:0001819	synonymous_variant	643226							g.chr5:145252343A>G		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.189T>C	5.37:g.145252343A>G							p.G63G	NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN			1	189	-			63						Silent	SNP	ENST00000377976.1	37	c.189T>C	CCDS34263.1																																																																																				0.498	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2				49	83	0	0	0	0.01441	0	49	83		
STK32A	202374	broad.mit.edu	37	5	146763487	146763487	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:146763487C>A	ENST00000397936.3	+	13	1465	c.1132C>A	c.(1132-1134)Cta>Ata	p.L378I	STK32A_ENST00000398523.3_Missense_Mutation_p.L378I	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	378							ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCAAATCTAGCCTTGGA	0.338																																						uc010jgn.1		NaN																	0				lung(2)|skin(1)	3						c.(1132-1134)CTA>ATA		serine/threonine kinase 32A isoform 1							113.0	107.0	109.0					5																	146763487		1568	3582	5150	SO:0001583	missense	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146763487C>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.1132C>A	5.37:g.146763487C>A	ENSP00000381030:p.Leu378Ile					STK32A_uc011dbw.1_Missense_Mutation_p.L378I	p.L378I	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1412	+			378					B3KSY0	Missense_Mutation	SNP	ENST00000397936.3	37	c.1132C>A	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	C	6.226	0.409908	0.11812	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	T;T	0.67523	-0.27;-0.25	5.13	0.874	0.19124	.	.	.	.	.	T	0.44664	0.1304	L	0.31065	0.9	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.19031	-1.0318	9	0.17369	T	0.5	.	1.2118	0.01906	0.2717:0.3022:0.2648:0.1613	.	378;378	B7Z9H7;Q8WU08	.;ST32A_HUMAN	I	378	ENSP00000381030:L378I;ENSP00000381535:L378I	ENSP00000381030:L378I	L	+	1	2	STK32A	146743680	0.036000	0.19791	0.051000	0.19133	0.357000	0.29423	-0.846000	0.04336	0.341000	0.23771	0.655000	0.94253	CTA		0.338	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1		NM_145001		17	26	1	0	8.00594e-06	0.007413	8.1909e-06	17	26		
GRPEL2	134266	broad.mit.edu	37	5	148730750	148730750	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:148730750G>A	ENST00000329271.3	+	4	693	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	195					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCACCGTGGCATTAGT	0.532																																						uc003lqj.2		NaN																	0				ovary(1)	1						c.(583-585)GTG>ATG		GrpE-like 2, mitochondrial precursor							115.0	108.0	110.0					5																	148730750		2203	4300	6503	SO:0001583	missense	134266				protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity	g.chr5:148730750G>A	AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.583G>A	5.37:g.148730750G>A	ENSP00000329558:p.Val195Met					GRPEL2_uc011dca.1_3'UTR	p.V195M	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	709	+			195					B4DFA6|Q49AJ6	Missense_Mutation	SNP	ENST00000329271.3	37	c.583G>A	CCDS4295.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962632	0.74016	.	.	ENSG00000164284	ENST00000329271	.	.	.	5.91	5.91	0.95273	GrpE nucleotide exchange factor, head (2);	0.069126	0.50627	D	0.000114	T	0.78610	0.4310	H	0.94886	3.595	0.80722	D	1	D	0.61080	0.989	P	0.51945	0.685	D	0.84064	0.0376	9	0.87932	D	0	-25.8765	11.6426	0.51242	0.1368:0.0:0.8632:0.0	.	195	Q8TAA5	GRPE2_HUMAN	M	195	.	ENSP00000329558:V195M	V	+	1	0	GRPEL2	148710943	1.000000	0.71417	0.968000	0.41197	0.968000	0.65278	3.791000	0.55469	2.807000	0.96579	0.650000	0.86243	GTG		0.532	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252327.1		NM_152407		55	59	0	0	0	0.01441	0	55	59		
SLC36A1	206358	broad.mit.edu	37	5	150847396	150847396	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:150847396C>A	ENST00000243389.3	+	7	856	c.633C>A	c.(631-633)atC>atA	p.I211I	SLC36A1_ENST00000429484.2_Silent_p.I211I|SLC36A1_ENST00000521925.1_Silent_p.I211I|SLC36A1_ENST00000520701.1_Silent_p.I211I	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	211					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	TGGTTTTCATCAGGAACCTCC	0.522																																					Melanoma(151;1534 1860 12947 32979 37872)	uc003luc.2		NaN																	0				skin(1)	1						c.(631-633)ATC>ATA		solute carrier family 36 member 1	Glycine(DB00145)|L-Alanine(DB00160)						236.0	199.0	211.0					5																	150847396		2203	4300	6503	SO:0001819	synonymous_variant	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150847396C>A	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.633C>A	5.37:g.150847396C>A						GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Silent_p.I211I|SLC36A1_uc010jhw.1_Silent_p.I211I	p.I211I	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	850	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	211			Helical; Name=4; (Potential).		C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Silent	SNP	ENST00000243389.3	37	c.633C>A	CCDS4316.1																																																																																				0.522	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1		NM_078483		18	56	1	0	2.39187e-15	0.008871	2.51349e-15	18	56		
CCNJL	79616	broad.mit.edu	37	5	159682612	159682612	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:159682612C>T	ENST00000393977.3	-	6	1116	c.831G>A	c.(829-831)caG>caA	p.Q277Q	CCNJL_ENST00000257536.7_Silent_p.Q229Q|CCNJL_ENST00000519673.1_Silent_p.Q229Q|CCNJL_ENST00000541762.1_Silent_p.Q228Q|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	277						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGAGATCCTCTGCAGGTCTC	0.507																																						uc003lyb.1		NaN																	0					0						c.(829-831)CAG>CAA		cyclin J-like							132.0	136.0	135.0					5																	159682612		1899	4129	6028	SO:0001819	synonymous_variant	79616					nucleus		g.chr5:159682612C>T	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.831G>A	5.37:g.159682612C>T						CCNJL_uc011dee.1_Silent_p.Q229Q|CCNJL_uc003lyc.1_RNA|CCNJL_uc011def.1_Silent_p.Q229Q	p.Q277Q	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	1083	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	277					Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	37	c.831G>A	CCDS4350.2																																																																																				0.507	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1		NM_024565		76	78	0	0	0	0.01441	0	76	78		
TENM2	57451	broad.mit.edu	37	5	167655045	167655045	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:167655045G>A	ENST00000518659.1	+	25	5469	c.5430G>A	c.(5428-5430)ctG>ctA	p.L1810L	TENM2_ENST00000403607.2_Silent_p.L1634L|TENM2_ENST00000519204.1_Silent_p.L1689L|TENM2_ENST00000520394.1_Silent_p.L1571L|CTB-178M22.2_ENST00000519795.1_RNA|TENM2_ENST00000545108.1_Silent_p.L1809L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1810					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACATCTCCCTGCCTATGGAGA	0.527																																						uc010jjd.2		NaN																	0				ovary(6)|central_nervous_system(4)	10						c.(5401-5403)CTG>CTA		odz, odd Oz/ten-m homolog 2							50.0	52.0	51.0					5																	167655045		2055	4192	6247	SO:0001819	synonymous_variant	57451							g.chr5:167655045G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5430G>A	5.37:g.167655045G>A						ODZ2_uc003lzr.3_Silent_p.L1571L|ODZ2_uc003lzt.3_Silent_p.L1174L|ODZ2_uc010jje.2_Silent_p.L1065L	p.L1801L	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	25	5403	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.5403G>A																																																																																					0.527	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		10	4	0	0	0	0.010729	0	10	4		
DOCK2	1794	broad.mit.edu	37	5	169122855	169122855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:169122855C>T	ENST00000256935.8	+	10	972	c.892C>T	c.(892-894)Caa>Taa	p.Q298*		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	298					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGATTTGTCAAATAGTCCG	0.473																																						uc003maf.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(892-894)CAA>TAA		dedicator of cytokinesis 2							93.0	98.0	96.0					5																	169122855		2203	4300	6503	SO:0001587	stop_gained	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169122855C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.892C>T	5.37:g.169122855C>T	ENSP00000256935:p.Gln298*					DOCK2_uc011der.1_RNA	p.Q298*	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	972	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	298					Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	37	c.892C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	42	9.184238	0.99092	.	.	ENSG00000134516	ENST00000256935	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	X	298	.	ENSP00000256935:Q298X	Q	+	1	0	DOCK2	169055433	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.609000	0.82925	2.835000	0.97688	0.650000	0.86243	CAA		0.473	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946		52	45	0	0	0	0.01441	0	52	45		
KCNIP1	30820	broad.mit.edu	37	5	170159845	170159845	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:170159845G>A	ENST00000411494.1	+	7	510	c.510G>A	c.(508-510)ggG>ggA	p.G170G	KCNIP1_ENST00000390656.4_Silent_p.G159G|KCNIP1_ENST00000377360.4_Silent_p.G168G|KCNIP1_ENST00000434108.1_Silent_p.G184G|KCNIP1_ENST00000328939.4_Silent_p.G159G|KCNIP1_ENST00000520740.1_Silent_p.G131G			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	170					detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATGATGGGGAAATACACAT	0.493																																						uc003mas.2		NaN																	0				skin(2)	2						c.(508-510)GGG>GGA		Kv channel interacting protein 1 isoform 1							178.0	139.0	152.0					5																	170159845		2203	4300	6503	SO:0001819	synonymous_variant	30820				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170159845G>A	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.510G>A	5.37:g.170159845G>A						KCNIP1_uc003map.2_Silent_p.G168G|KCNIP1_uc003mat.2_Silent_p.G159G|KCNIP1_uc010jjp.2_Silent_p.G131G|KCNIP1_uc010jjq.2_Silent_p.G184G	p.G170G	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1039	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	170					B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Silent	SNP	ENST00000411494.1	37	c.510G>A	CCDS34286.1																																																																																				0.493	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1				19	44	0	0	0	0.010504	0	19	44		
STK10	6793	broad.mit.edu	37	5	171517361	171517361	+	Silent	SNP	C	C	T	rs148086376		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:171517361C>T	ENST00000176763.5	-	10	1903	c.1560G>A	c.(1558-1560)ccG>ccA	p.P520P	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	520			P -> L (in dbSNP:rs17074311).		cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.P520P(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTACAGTTTCGGGTCCTGGC	0.532																																						uc003mbo.1		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(1558-1560)CCG>CCA		serine/threonine kinase 10		C		1,4405	2.1+/-5.4	0,1,2202	191.0	178.0	183.0		1560	-9.2	0.1	5	dbSNP_134	183	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	STK10	NM_005990.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		520/969	171517361	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171517361C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1560G>A	5.37:g.171517361C>T							p.P520P	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1860	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	520					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	c.1560G>A	CCDS34290.1																																																																																				0.532	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2		NM_005990		44	129	0	0	0	0.01441	0	44	129		
CPLX2	10814	broad.mit.edu	37	5	175306917	175306917	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:175306917G>C	ENST00000359546.4	+	5	917	c.274G>C	c.(274-276)Ggg>Cgg	p.G92R	CPLX2_ENST00000515094.1_Missense_Mutation_p.G92R|CPLX2_ENST00000393745.3_Missense_Mutation_p.G92R	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	92	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCCTGCGAGGGGAGCCTGAC	0.642																																						uc003mde.1		NaN																	0				ovary(1)	1						c.(274-276)GGG>CGG		complexin 2							35.0	41.0	39.0					5																	175306917		2203	4300	6503	SO:0001583	missense	10814				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		g.chr5:175306917G>C	U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.274G>C	5.37:g.175306917G>C	ENSP00000352544:p.Gly92Arg					CPLX2_uc003mdf.1_Missense_Mutation_p.G92R	p.G92R	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	620	+	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	92			Interaction with the SNARE complex (By similarity).		B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	c.274G>C	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.604212	0.87157	.	.	ENSG00000145920	ENST00000359546;ENST00000509837;ENST00000393745;ENST00000514150;ENST00000515094	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	U	0.000000	D	0.84197	0.5419	M	0.87269	2.87	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.86933	0.2074	9	0.87932	D	0	.	16.659	0.85236	0.0:0.0:1.0:0.0	.	92	Q6PUV4	CPLX2_HUMAN	R	92	.	ENSP00000352544:G92R	G	+	1	0	CPLX2	175239523	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.724000	0.98775	2.533000	0.85409	0.552000	0.68991	GGG		0.642	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2				5	17	0	0	0	0.001168	0	5	17		
HIGD2A	192286	broad.mit.edu	37	5	175816403	175816403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:175816403C>T	ENST00000274787.2	+	2	299	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	NOP16_ENST00000509257.1_5'Flank|NOP16_ENST00000389158.5_5'Flank|NOP16_ENST00000510123.1_5'Flank|NOP16_ENST00000507413.1_5'Flank	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	76	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				negative regulation of apoptotic process (GO:0043066)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CCAGCGCTCTCAGCTCATGAT	0.637																																						uc003meg.2		NaN																	0					0						c.(226-228)CAG>TAG		HIG1 hypoxia inducible domain family, member 2A							66.0	73.0	71.0					5																	175816403		2203	4300	6503	SO:0001587	stop_gained	192286					integral to membrane		g.chr5:175816403C>T	BC007502	CCDS4401.1	5q35.2	2009-03-17	2009-03-17		ENSG00000146066	ENSG00000146066			28311	protein-coding gene	gene with protein product			"""HIG1 domain family, member 2A"""			12477932	Standard	NM_138820		Approved	MGC2198	uc003meg.3	Q9BW72	OTTHUMG00000130657	ENST00000274787.2:c.226C>T	5.37:g.175816403C>T	ENSP00000274787:p.Gln76*					NOP16_uc003med.2_5'Flank|NOP16_uc003mee.2_5'Flank|NOP16_uc011dfl.1_5'Flank|NOP16_uc011dfm.1_5'Flank	p.Q76*	NM_138820	NP_620175	Q9BW72	HIG2A_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)	2	263	+	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	76			Extracellular (Potential).|HIG1.			Nonsense_Mutation	SNP	ENST00000274787.2	37	c.226C>T	CCDS4401.1	.	.	.	.	.	.	.	.	.	.	C	37	6.272897	0.97431	.	.	ENSG00000146066	ENST00000274787	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.9141	20.2618	0.98447	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000274787:Q76X	Q	+	1	0	HIGD2A	175749009	1.000000	0.71417	0.977000	0.42913	0.901000	0.52897	7.437000	0.80417	2.793000	0.96121	0.655000	0.94253	CAG		0.637	HIGD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253147.1		NM_138820		45	69	0	0	0	0.01441	0	45	69		
HK3	3101	broad.mit.edu	37	5	176309065	176309065	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:176309065G>C	ENST00000292432.5	-	16	2208	c.2117C>G	c.(2116-2118)tCa>tGa	p.S706*		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	706	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.S706L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGCGGCCTGAGTCCCCAGG	0.617																																						uc003mfa.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(2116-2118)TCA>TGA		hexokinase 3							54.0	52.0	53.0					5																	176309065		2203	4300	6503	SO:0001587	stop_gained	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176309065G>C		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2117C>G	5.37:g.176309065G>C	ENSP00000292432:p.Ser706*					HK3_uc003mez.2_Nonsense_Mutation_p.S262*	p.S706*	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2209	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	706			Catalytic.		Q8N1E7	Nonsense_Mutation	SNP	ENST00000292432.5	37	c.2117C>G	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738257	0.89573	.	.	ENSG00000160883	ENST00000292432;ENST00000514058	.	.	.	4.9	1.89	0.25635	.	0.740883	0.11724	N	0.535625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	6.8103	0.23801	0.0886:0.0:0.4064:0.505	.	.	.	.	X	706;96	.	ENSP00000292432:S706X	S	-	2	0	HK3	176241671	0.736000	0.28164	0.223000	0.23860	0.040000	0.13550	3.888000	0.56204	0.743000	0.32719	0.655000	0.94253	TCA		0.617	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1				16	23	0	0	0	0.004007	0	16	23		
NSD1	64324	broad.mit.edu	37	5	176562564	176562564	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:176562564G>C	ENST00000439151.2	+	2	505	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.E154Q|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	154					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTGCACTTTGAGAATTTTAC	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NaN		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(460-462)GAG>CAG		nuclear receptor binding SET domain protein 1							74.0	74.0	74.0					5																	176562564		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176562564G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.460G>C	5.37:g.176562564G>C	ENSP00000395929:p.Glu154Gln	HNSCC(47;0.14)				NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.E154Q|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.E154Q|NSD1_uc003mfq.2_Missense_Mutation_p.E154Q	p.E154Q	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	2	598	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	154					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.460G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098293	0.37048	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.93859	-3.19;-3.3	4.76	4.76	0.60689	.	0.423919	0.20034	N	0.100657	D	0.88872	0.6555	N	0.08118	0	0.80722	D	1	P;P;B	0.41313	0.745;0.629;0.241	P;B;B	0.46172	0.506;0.309;0.136	D	0.90827	0.4713	10	0.72032	D	0.01	.	15.3128	0.74048	0.0:0.0:1.0:0.0	.	154;154;154	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	Q	154	ENSP00000395929:E154Q;ENSP00000354310:E154Q	ENSP00000354310:E154Q	E	+	1	0	NSD1	176495170	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.031000	0.64134	2.480000	0.83734	0.462000	0.41574	GAG		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2		NM_172349		22	107	0	0	0	0.010504	0	22	107		
NSD1	64324	broad.mit.edu	37	5	176721473	176721473	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:176721473C>G	ENST00000439151.2	+	23	7149	c.7104C>G	c.(7102-7104)gcC>gcG	p.A2368A	NSD1_ENST00000361032.4_Silent_p.A2265A|NSD1_ENST00000354179.4_Silent_p.A2099A|NSD1_ENST00000347982.4_Silent_p.A2099A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2368	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TAGGTGCTGCCAGCCCAAGGC	0.587			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NaN		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(7102-7104)GCC>GCG		nuclear receptor binding SET domain protein 1							45.0	45.0	45.0					5																	176721473		2203	4300	6503	SO:0001819	synonymous_variant	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176721473C>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7104C>G	5.37:g.176721473C>G		HNSCC(47;0.14)				NSD1_uc003mft.3_Silent_p.A2099A|NSD1_uc011dfx.1_Silent_p.A2016A	p.A2368A	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	7242	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2368			Pro-rich.		Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.7104C>G	CCDS4412.1																																																																																				0.587	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2		NM_172349		9	56	0	0	0	0.010729	0	9	56		
GRK6	2870	broad.mit.edu	37	5	176867977	176867977	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:176867977C>T	ENST00000355472.5	+	15	1768	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	GRK6_ENST00000355958.5_Missense_Mutation_p.P534S|GRK6_ENST00000393576.3_Missense_Mutation_p.P500S|PRR7-AS1_ENST00000514846.1_RNA|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000528793.1_Missense_Mutation_p.P534S|PRR7-AS1_ENST00000511565.1_RNA	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	534					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTCAGTTCCCCCAGACCT	0.612																																						uc011dfz.1		NaN																	0				large_intestine(1)|stomach(1)|breast(1)	3						c.(1600-1602)CCC>TCC		G protein-coupled receptor kinase 6 isoform B							40.0	40.0	40.0					5																	176867977		2203	4300	6503	SO:0001583	missense	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176867977C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1600C>T	5.37:g.176867977C>T	ENSP00000347655:p.Pro534Ser					GRK6_uc003mgq.2_Missense_Mutation_p.P534S|GRK6_uc003mgs.1_Missense_Mutation_p.P504S|uc003mgt.2_Intron	p.P534S	NM_002082	NP_002073	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	1760	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	534					O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	c.1600C>T	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823179	0.32237	.	.	ENSG00000198055	ENST00000355472;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T	0.71461	-0.25;-0.57;-0.24;-0.28	5.12	5.12	0.69794	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	L	0.28115	0.83	0.80722	D	1	B;B;B	0.21452	0.004;0.018;0.056	B;B;B	0.19148	0.002;0.004;0.024	T	0.54316	-0.8312	10	0.19590	T	0.45	-18.2689	18.1757	0.89760	0.0:1.0:0.0:0.0	.	534;504;534	P43250;B3KPS5;P43250-2	GRK6_HUMAN;.;.	S	534;500;534;534	ENSP00000347655:P534S;ENSP00000377204:P500S;ENSP00000348230:P534S;ENSP00000433511:P534S	ENSP00000347655:P534S	P	+	1	0	GRK6	176800583	0.974000	0.33945	0.961000	0.40146	0.780000	0.44128	2.518000	0.45537	2.380000	0.81148	0.655000	0.94253	CCC		0.612	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1		NM_002082		11	37	0	0	0	0.008291	0	11	37		
ZFP2	80108	broad.mit.edu	37	5	178359071	178359071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:178359071C>T	ENST00000361362.2	+	5	1287	c.757C>T	c.(757-759)Caa>Taa	p.Q253*	ZFP2_ENST00000520301.1_Nonsense_Mutation_p.Q253*|ZFP2_ENST00000523286.1_Nonsense_Mutation_p.Q253*|ZFP2_ENST00000503510.2_Nonsense_Mutation_p.Q253*	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AGCCTTCAGTCAAAGCATGCA	0.383																																						uc003mjn.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(757-759)CAA>TAA		zinc finger protein 2 homolog							67.0	69.0	69.0					5																	178359071		2203	4300	6503	SO:0001587	stop_gained	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178359071C>T	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.757C>T	5.37:g.178359071C>T	ENSP00000354453:p.Gln253*					ZFP2_uc010jky.2_Nonsense_Mutation_p.Q253*|ZFP2_uc010jkx.1_Nonsense_Mutation_p.Q253*	p.Q253*	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	1266	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	253			C2H2-type 6.		A5PLN5|B7ZM23|Q9H6Z6	Nonsense_Mutation	SNP	ENST00000361362.2	37	c.757C>T	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	c	36	5.604889	0.96626	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	.	.	.	4.67	3.78	0.43462	.	0.000000	0.31188	N	0.008090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-10.1249	6.6882	0.23156	0.0:0.7213:0.1808:0.0979	.	.	.	.	X	253	.	ENSP00000354453:Q253X	Q	+	1	0	ZFP2	178291677	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.818000	0.04467	2.408000	0.81797	0.650000	0.86243	CAA		0.383	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2		NM_030613		18	72	0	0	0	0.008871	0	18	72		
ADAMTS2	9509	broad.mit.edu	37	5	178554964	178554964	+	Silent	SNP	G	G	A	rs145016043	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:178554964G>A	ENST00000251582.7	-	17	2714	c.2613C>T	c.(2611-2613)ggC>ggT	p.G871G		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	871	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCTCACCTCCGCCACAGGGCT	0.627													G|||	3	0.000599042	0.0	0.0	5008	,	,		17054	0.0		0.003	False		,,,				2504	0.0					uc003mjw.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(2611-2613)GGC>GGT		ADAM metallopeptidase with thrombospondin type 1		G		1,4405	2.1+/-5.4	0,1,2202	133.0	118.0	123.0		2613	-7.8	1.0	5	dbSNP_134	123	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ADAMTS2	NM_014244.4		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		871/1212	178554964	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178554964G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2613C>T	5.37:g.178554964G>A							p.G871G	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	17	2613	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	871			TSP type-1 2.			Silent	SNP	ENST00000251582.7	37	c.2613C>T	CCDS4444.1																																																																																				0.627	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1		NM_014244		27	75	0	0	0	0.00632	0	27	75		
SQSTM1	8878	broad.mit.edu	37	5	179251010	179251010	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:179251010A>T	ENST00000389805.4	+	3	632	c.454A>T	c.(454-456)Agc>Tgc	p.S152C	SQSTM1_ENST00000510187.1_Missense_Mutation_p.S152C|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S68C|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S68C|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S68C	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	152	Interaction with GABRR3. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGACTTGTGTAGCGTCTGCGA	0.627																																						uc003mkw.3		NaN																SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(454-456)AGC>TGC		sequestosome 1 isoform 1							79.0	72.0	74.0					5																	179251010		2203	4300	6503	SO:0001583	missense	8878	Paget_Disease_of_Bone			anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179251010A>T	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.454A>T	5.37:g.179251010A>T	ENSP00000374455:p.Ser152Cys					SQSTM1_uc011dgr.1_Missense_Mutation_p.S68C|SQSTM1_uc011dgs.1_Missense_Mutation_p.S68C|SQSTM1_uc003mkv.3_Missense_Mutation_p.S152C|SQSTM1_uc003mkx.2_Missense_Mutation_p.S68C	p.S152C	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	549	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	152			ZZ-type.|Interaction with GABRR3 (By similarity).		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.454A>T	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198628	0.38806	.	.	ENSG00000161011	ENST00000376929;ENST00000514093;ENST00000422245;ENST00000389805;ENST00000504627;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	5.59	0.232	0.15381	Zinc finger, ZZ-type (4);	0.763005	0.12984	N	0.423055	D	0.92938	0.7753	M	0.80982	2.52	0.09310	N	1	P;D	0.55172	0.716;0.97	P;P	0.54706	0.759;0.65	D	0.84944	0.0867	10	0.72032	D	0.01	-1.9413	4.2245	0.10574	0.6065:0.0:0.1999:0.1937	.	152;152	Q13501;E7EMC7	SQSTM_HUMAN;.	C	68;68;68;152;175;68;152;68	ENSP00000366128:S68C;ENSP00000427308:S68C;ENSP00000394534:S68C;ENSP00000374455:S152C;ENSP00000425957:S175C;ENSP00000385553:S68C;ENSP00000424477:S152C;ENSP00000353944:S68C	ENSP00000353944:S68C	S	+	1	0	SQSTM1	179183616	0.288000	0.24324	0.003000	0.11579	0.006000	0.05464	0.785000	0.26830	0.100000	0.17581	-0.366000	0.07423	AGC		0.627	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1				18	41	0	0	0	0.007413	0	18	41		
GFPT2	9945	broad.mit.edu	37	5	179763570	179763570	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:179763570C>T	ENST00000253778.8	-	3	292	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	41	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCCCATCGATCGCCACACCTG	0.478																																						uc003mlw.1		NaN																	0				ovary(1)|skin(1)	2						c.(121-123)GCG>GCA		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						195.0	202.0	200.0					5																	179763570		2044	4201	6245	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179763570C>T	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.123G>A	5.37:g.179763570C>T							p.A41A	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	221	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	41			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.123G>A	CCDS43411.1																																																																																				0.478	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4		NM_005110		166	125	0	0	0	0.01441	0	166	125		
OR2V2	285659	broad.mit.edu	37	5	180582627	180582627	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:180582627A>G	ENST00000328275.1	+	1	685	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGCTGCAAATGCACTCTGC	0.527																																						uc011dhj.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(685-687)ATG>GTG		olfactory receptor, family 2, subfamily V,							194.0	186.0	188.0					5																	180582627		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582627A>G	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.685A>G	5.37:g.180582627A>G	ENSP00000332185:p.Met229Val						p.M229V	NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	685	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	229			Cytoplasmic (Potential).		Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.685A>G	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	0.120	-1.127073	0.01770	.	.	ENSG00000182613	ENST00000328275	T	0.00152	8.66	3.32	2.13	0.27403	GPCR, rhodopsin-like superfamily (1);	0.317552	0.22966	N	0.053489	T	0.00144	0.0004	L	0.55834	1.745	0.09310	N	1	B	0.23990	0.095	B	0.25291	0.059	T	0.32929	-0.9888	10	0.87932	D	0	.	6.9295	0.24434	0.8826:0.0:0.1174:0.0	.	229	Q96R30	OR2V2_HUMAN	V	229	ENSP00000332185:M229V	ENSP00000332185:M229V	M	+	1	0	OR2V2	180515233	0.027000	0.19231	0.005000	0.12908	0.001000	0.01503	1.837000	0.39201	0.475000	0.27415	-0.952000	0.02654	ATG		0.527	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1				34	158	0	0	0	0.012213	0	34	158		
RIOK1	83732	broad.mit.edu	37	6	7398940	7398940	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:7398940C>G	ENST00000379834.2	+	5	954	c.447C>G	c.(445-447)atC>atG	p.I149M		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	149							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GGTATCGCATCAAAGATAAGG	0.313																																						uc003mxn.2		NaN																	0				ovary(2)|stomach(1)|skin(1)	4						c.(445-447)ATC>ATG		RIO kinase 1 isoform 1							212.0	204.0	207.0					6																	7398940		2203	4300	6503	SO:0001583	missense	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7398940C>G	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.447C>G	6.37:g.7398940C>G	ENSP00000369162:p.Ile149Met					RIOK1_uc003mxm.1_Missense_Mutation_p.I45M	p.I149M	NM_031480	NP_113668	Q9BRS2	RIOK1_HUMAN			5	621	+	Ovarian(93;0.0418)		149					B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	c.447C>G	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470211	0.26423	.	.	ENSG00000124784	ENST00000379834	T	0.05649	3.41	4.77	2.92	0.33932	.	0.124151	0.53938	D	0.000060	T	0.02727	0.0082	L	0.58810	1.83	0.35508	D	0.800376	B	0.14438	0.01	B	0.17722	0.019	T	0.21724	-1.0237	10	0.33141	T	0.24	-15.5689	8.0664	0.30663	0.0:0.729:0.0:0.271	.	149	Q9BRS2	RIOK1_HUMAN	M	149	ENSP00000369162:I149M	ENSP00000369162:I149M	I	+	3	3	RIOK1	7343939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.970000	0.29383	1.099000	0.41499	0.591000	0.81541	ATC		0.313	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2		NM_031480		22	30	0	0	0	0.00278	0	22	30		
DSP	1832	broad.mit.edu	37	6	7583091	7583091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:7583091C>T	ENST00000379802.3	+	24	5937	c.5596C>T	c.(5596-5598)Cag>Tag	p.Q1866*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q1267*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1866	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGACCTGAATCAGTGGAAGAC	0.453																																						uc003mxp.1		NaN																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(5596-5598)CAG>TAG		desmoplakin isoform I							83.0	85.0	85.0					6																	7583091		2203	4300	6503	SO:0001587	stop_gained	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583091C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5596C>T	6.37:g.7583091C>T	ENSP00000369129:p.Gln1866*					DSP_uc003mxq.1_Nonsense_Mutation_p.Q1267*	p.Q1866*	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	5875	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1866			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	37	c.5596C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	47	13.257985	0.99730	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	.	.	.	5.38	5.38	0.77491	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.1284	0.93394	0.0:1.0:0.0:0.0	.	.	.	.	X	1866;1267	.	ENSP00000369129:Q1866X	Q	+	1	0	DSP	7528090	0.989000	0.36119	0.999000	0.59377	0.998000	0.95712	2.520000	0.45554	2.495000	0.84180	0.650000	0.86243	CAG		0.453	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		22	37	0	0	0	0.012319	0	22	37		
SYCP2L	221711	broad.mit.edu	37	6	10907799	10907799	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:10907799C>G	ENST00000283141.6	+	10	997	c.701C>G	c.(700-702)tCt>tGt	p.S234C	SYCP2L_ENST00000543878.1_Missense_Mutation_p.S75C|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	234						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GTTGCTATTTCTGAAGCGCTG	0.348																																						uc003mzo.2		NaN																	0				ovary(1)|skin(1)	2						c.(700-702)TCT>TGT		synaptonemal complex protein 2-like							107.0	101.0	103.0					6																	10907799		1837	4093	5930	SO:0001583	missense	221711					nucleus		g.chr6:10907799C>G	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.701C>G	6.37:g.10907799C>G	ENSP00000283141:p.Ser234Cys					SYCP2L_uc011din.1_Missense_Mutation_p.S75C|SYCP2L_uc010jow.2_5'UTR	p.S234C	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		10	997	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	234					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.701C>G	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.596746	0.28445	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.49432	0.78;2.07	5.48	2.6	0.31112	.	0.260895	0.33631	N	0.004713	T	0.24044	0.0582	L	0.46157	1.445	0.80722	D	1	B;B	0.24186	0.006;0.099	B;B	0.25884	0.015;0.064	T	0.07158	-1.0787	10	0.52906	T	0.07	.	11.1026	0.48184	0.0:0.5147:0.4146:0.0707	.	75;234	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	C	75;234	ENSP00000440676:S75C;ENSP00000283141:S234C	ENSP00000283141:S234C	S	+	2	0	SYCP2L	11015785	0.992000	0.36948	0.229000	0.23960	0.839000	0.47603	1.202000	0.32271	0.219000	0.20840	0.655000	0.94253	TCT		0.348	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3		NM_194299		38	45	0	0	0	0.00623	0	38	45		
HIVEP1	3096	broad.mit.edu	37	6	12123091	12123091	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:12123091C>T	ENST00000379388.2	+	4	3395	c.3063C>T	c.(3061-3063)atC>atT	p.I1021I	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1021					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCTCCGGCATCTGGGAACAGA	0.488																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3061-3063)ATC>ATT		human immunodeficiency virus type I enhancer							98.0	103.0	101.0					6																	12123091		1901	4132	6033	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123091C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3063C>T	6.37:g.12123091C>T						HIVEP1_uc011diq.1_RNA	p.I1021I	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	3242	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1021					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.3063C>T	CCDS43426.1																																																																																				0.488	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		35	894	0	0	0	0.00874	0	35	894		
KIF13A	63971	broad.mit.edu	37	6	17804706	17804706	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:17804706G>A	ENST00000259711.6	-	20	2445	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	KIF13A_ENST00000378826.2_Silent_p.F780F|KIF13A_ENST00000378814.5_Silent_p.F780F|KIF13A_ENST00000378843.2_Silent_p.F780F|KIF13A_ENST00000378816.5_Silent_p.F780F	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	780					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGGCTTCATAGAAAGGGTCAC	0.423																																						uc003ncg.3		NaN																	0				large_intestine(2)|ovary(2)	4						c.(2338-2340)TTC>TTT		kinesin family member 13A isoform a							70.0	68.0	68.0					6																	17804706		1938	4148	6086	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17804706G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2340C>T	6.37:g.17804706G>A						KIF13A_uc003ncf.2_Silent_p.F780F|KIF13A_uc003nch.3_Silent_p.F780F|KIF13A_uc003nci.3_Silent_p.F780F	p.F780F	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		20	2445	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	780					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.2340C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281263	0.23392	.	.	ENSG00000137177	ENST00000358380	.	.	.	5.88	2.47	0.30058	.	.	.	.	.	T	0.44973	0.1319	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38178	-0.9673	4	.	.	.	.	9.0955	0.36636	0.5083:0.0:0.4917:0.0	.	.	.	.	F	174	.	.	S	-	2	0	KIF13A	17912685	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.638000	0.37165	0.718000	0.32166	0.555000	0.69702	TCT		0.423	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4				21	6	0	0	0	0.012319	0	21	6		
CDKAL1	54901	broad.mit.edu	37	6	21065357	21065357	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:21065357G>A	ENST00000378610.1	+	10	1144	c.1134G>A	c.(1132-1134)gtG>gtA	p.V378V	CDKAL1_ENST00000274695.4_Silent_p.V378V|CDKAL1_ENST00000378624.4_Silent_p.V308V			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	378					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AAGAAACAGTGAAACTTGTTG	0.368																																						uc003ndc.1		NaN																	0				ovary(2)	2						c.(1132-1134)GTG>GTA		CDK5 regulatory subunit associated protein							101.0	99.0	100.0					6																	21065357		2203	4300	6503	SO:0001819	synonymous_variant	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:21065357G>A	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1134G>A	6.37:g.21065357G>A						CDKAL1_uc003ndd.1_Silent_p.V378V|CDKAL1_uc003nde.1_Silent_p.V308V|CDKAL1_uc003ndf.1_5'UTR	p.V378V	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		12	1308	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		378					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	ENST00000378610.1	37	c.1134G>A	CCDS4546.1																																																																																				0.368	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1		NM_017774		22	504	0	0	0	0.014323	0	22	504		
CDKAL1	54901	broad.mit.edu	37	6	21231097	21231097	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:21231097G>A	ENST00000378610.1	+	14	1577	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	CDKAL1_ENST00000274695.4_Missense_Mutation_p.G523R|CDKAL1_ENST00000378624.4_Missense_Mutation_p.G432R|CDKAL1_ENST00000476517.1_3'UTR			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	523					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.G523R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AAATGGGCTTGGGAACCAGCT	0.463																																						uc003ndc.1		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)	2						c.(1567-1569)GGG>AGG		CDK5 regulatory subunit associated protein							82.0	78.0	79.0					6																	21231097		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:21231097G>A	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1567G>A	6.37:g.21231097G>A	ENSP00000367873:p.Gly523Arg					CDKAL1_uc003ndd.1_Missense_Mutation_p.G523R|CDKAL1_uc003nde.1_Missense_Mutation_p.G432R|CDKAL1_uc003ndf.1_Missense_Mutation_p.G36R|CDKAL1_uc003ndg.2_RNA	p.G523R	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		16	1741	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		523					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.1567G>A	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	G	2.715	-0.267938	0.05754	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.47869	0.85;0.83;0.85	5.04	3.27	0.37495	.	0.458295	0.21739	N	0.069851	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.0	T	0.34453	-0.9828	10	0.16420	T	0.52	.	5.4892	0.16767	0.0783:0.1502:0.6343:0.1372	.	432;523	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	R	523;432;523	ENSP00000274695:G523R;ENSP00000367889:G432R;ENSP00000367873:G523R	ENSP00000274695:G523R	G	+	1	0	CDKAL1	21339076	0.216000	0.23585	0.005000	0.12908	0.003000	0.03518	1.120000	0.31271	0.722000	0.32252	-0.127000	0.14921	GGG		0.463	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1		NM_017774		20	327	0	0	0	0.010504	0	20	327		
HIST1H3C	8352	broad.mit.edu	37	6	26045930	26045930	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26045930G>A	ENST00000540144.1	+	1	292	c.292G>A	c.(292-294)Gag>Aag	p.E98K	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGAGGCTTGTGAGGCCTACCT	0.577																																						uc003nfv.2		NaN																	0				ovary(1)	1						c.(292-294)GAG>AAG		histone cluster 1, H3c							62.0	57.0	59.0					6																	26045930		2203	4300	6503	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045930G>A	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.292G>A	6.37:g.26045930G>A	ENSP00000439493:p.Glu98Lys					HIST1H2BB_uc003nfu.2_5'Flank	p.E98K	NM_003531	NP_003522	P68431	H31_HUMAN			1	292	+			98					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.292G>A	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563884	0.65651	.	.	ENSG00000196532	ENST00000540144	T	0.77489	-1.1	4.38	4.38	0.52667	.	.	.	.	.	D	0.83529	0.5274	.	.	.	0.46396	D	0.999027	.	.	.	.	.	.	D	0.86084	0.1546	6	0.87932	D	0	.	16.8064	0.85706	0.0:0.0:1.0:0.0	.	.	.	.	K	98	ENSP00000439493:E98K	ENSP00000439493:E98K	E	+	1	0	HIST1H3C	26153909	1.000000	0.71417	0.985000	0.45067	0.409000	0.31022	7.646000	0.83445	2.378000	0.81104	0.491000	0.48974	GAG		0.577	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1		NM_003531		15	27	0	0	0	0.00245	0	15	27		
HIST1H2BD	3017	broad.mit.edu	37	6	26158404	26158404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26158404G>A	ENST00000289316.2	+	1	31	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E3K	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	3					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TACGATGCCTGAACCTACCAA	0.507																																						uc003ngr.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(7-9)GAA>AAA		histone cluster 1, H2bd							89.0	90.0	90.0					6																	26158404		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158404G>A	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.7G>A	6.37:g.26158404G>A	ENSP00000289316:p.Glu3Lys					HIST1H2BD_uc003ngs.2_Missense_Mutation_p.E3K	p.E3K	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	56	+			3						Missense_Mutation	SNP	ENST00000289316.2	37	c.7G>A	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	17.42	3.384228	0.61845	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.17854	2.25;2.25	5.13	5.13	0.70059	.	0.325448	0.21773	N	0.069324	T	0.19565	0.0470	M	0.82517	2.595	0.50813	D	0.999898	B	0.27013	0.166	B	0.33254	0.16	T	0.02070	-1.1219	10	0.62326	D	0.03	.	16.1409	0.81522	0.0:0.0:1.0:0.0	.	3	P58876	H2B1D_HUMAN	K	3	ENSP00000367008:E3K;ENSP00000289316:E3K	ENSP00000289316:E3K	E	+	1	0	HIST1H2BD	26266383	1.000000	0.71417	0.751000	0.31187	0.029000	0.11900	6.327000	0.72910	2.769000	0.95229	0.650000	0.86243	GAA		0.507	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1		NM_021063		15	51	0	0	0	0.003163	0	15	51		
HIST1H2BD	3017	broad.mit.edu	37	6	26158626	26158626	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26158626G>A	ENST00000289316.2	+	1	253	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E77K	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	77					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77K(2)|p.E77Q(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CATCGCAGGCGAGGCTTCCCG	0.612																																						uc003ngr.2		NaN																	3	Substitution - Missense(3)		cervix(1)|lung(1)|breast(1)	ovary(1)|pancreas(1)	2						c.(229-231)GAG>AAG		histone cluster 1, H2bd							141.0	138.0	139.0					6																	26158626		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158626G>A	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.229G>A	6.37:g.26158626G>A	ENSP00000289316:p.Glu77Lys					HIST1H2BD_uc003ngs.2_Missense_Mutation_p.E77K	p.E77K	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	278	+			77						Missense_Mutation	SNP	ENST00000289316.2	37	c.229G>A	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.046867	0.75846	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.34472	1.36;1.36	4.88	4.88	0.63580	Histone-fold (2);Histone core (1);	0.000000	0.42053	D	0.000772	T	0.46347	0.1388	H	0.95780	3.72	0.36724	D	0.881318	P	0.52692	0.955	P	0.48270	0.572	T	0.62224	-0.6899	10	0.54805	T	0.06	.	8.8585	0.35242	0.0815:0.0:0.7663:0.1522	.	77	P58876	H2B1D_HUMAN	K	77	ENSP00000367008:E77K;ENSP00000289316:E77K	ENSP00000289316:E77K	E	+	1	0	HIST1H2BD	26266605	1.000000	0.71417	0.972000	0.41901	0.251000	0.25915	5.677000	0.68142	2.657000	0.90304	0.650000	0.86243	GAG		0.612	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1		NM_021063		45	94	0	0	0	0.01441	0	45	94		
HIST1H2BE	8344	broad.mit.edu	37	6	26184336	26184336	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26184336G>C	ENST00000356530.3	+	1	379	c.313G>C	c.(313-315)Ggg>Cgg	p.G105R		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	105					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						GCTGCTTCCCGGGGAGCTGGC	0.617																																						uc003ngt.2		NaN																	0					0						c.(313-315)GGG>CGG		histone cluster 1, H2be							53.0	55.0	54.0					6																	26184336		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184336G>C	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.313G>C	6.37:g.26184336G>C	ENSP00000348924:p.Gly105Arg						p.G105R	NM_003523	NP_003514	P62807	H2B1C_HUMAN			1	313	+			105					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.313G>C	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.444667	0.83993	.	.	ENSG00000197697	ENST00000356530	T	0.61742	0.08	4.96	4.96	0.65561	.	0.000000	0.47455	U	0.000230	T	0.62660	0.2446	.	.	.	0.46416	D	0.999038	.	.	.	.	.	.	T	0.67432	-0.5672	7	0.72032	D	0.01	.	13.0541	0.58969	0.0812:0.0:0.9188:0.0	.	.	.	.	R	105	ENSP00000348924:G105R	ENSP00000348924:G105R	G	+	1	0	HIST1H2BE	26292315	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.494000	0.97962	2.479000	0.83701	0.537000	0.68136	GGG		0.617	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1		NM_003523		18	52	0	0	0	0.006122	0	18	52		
HIST1H2AE	3012	broad.mit.edu	37	6	26217568	26217568	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26217568G>A	ENST00000303910.2	+	1	404	c.366G>A	c.(364-366)gaG>gaA	p.E122E	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AGAAGACGGAGAGCCACCATA	0.542																																						uc003nha.1		NaN																	0				ovary(1)|skin(1)	2						c.(364-366)GAG>GAA		histone cluster 1, H2ae							52.0	53.0	53.0					6																	26217568		2203	4300	6503	SO:0001819	synonymous_variant	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217568G>A	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.366G>A	6.37:g.26217568G>A						HIST1H2BG_uc003ngz.2_5'Flank	p.E122E	NM_021052	NP_066390	P04908	H2A1B_HUMAN			1	421	+		all_hematologic(11;0.196)	122					P28001|Q76P63	Silent	SNP	ENST00000303910.2	37	c.366G>A	CCDS4595.1																																																																																				0.542	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1		NM_021052		8	21	0	0	0	0.010729	0	8	21		
BTN3A2	11118	broad.mit.edu	37	6	26368410	26368410	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26368410G>C	ENST00000527422.1	+	3	198		c.e3-1		BTN3A2_ENST00000377708.2_5'UTR|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000396948.1_5'UTR|BTN3A2_ENST00000508906.2_Intron|BTN3A2_ENST00000396934.3_Intron|AL021917.1_ENST00000401160.1_RNA|BTN3A2_ENST00000356386.2_5'UTR			P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2						interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						ATGCAGCATAGATGAAAATGG	0.493																																						uc010jqh.1		NaN																	0					0						c.e3-1		butyrophilin, subfamily 3, member A2 precursor							146.0	120.0	129.0					6																	26368410		2203	4297	6500	SO:0001630	splice_region_variant	11118					integral to membrane		g.chr6:26368410G>C	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000527422.1:c.0-1G>C	6.37:g.26368410G>C						BTN3A2_uc003nho.1_5'UTR|BTN3A2_uc003nhp.2_5'UTR|BTN3A2_uc011dkd.1_Intron|BTN3A2_uc011dke.1_Intron|BTN3A2_uc010jqi.1_5'UTR	p.M1_splice	NM_007047	NP_008978	P78410	BT3A2_HUMAN			3	260	+								B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Splice_Site	SNP	ENST00000527422.1	37	c.1_splice	CCDS4605.1																																																																																				0.493	BTN3A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388269.1			Intron	36	57	0	0	0	0.011902	0	36	57		
HIST1H1B	3009	broad.mit.edu	37	6	27834692	27834692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:27834692C>T	ENST00000331442.3	-	1	667	c.616G>A	c.(616-618)Gct>Act	p.A206T		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	206					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGGGCTTAGCGGCTTTGGGC	0.552																																						uc003njx.2		NaN																	0				large_intestine(2)|lung(1)	3						c.(616-618)GCT>ACT		histone cluster 1, H1b							70.0	65.0	67.0					6																	27834692		2203	4300	6503	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834692C>T	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.616G>A	6.37:g.27834692C>T	ENSP00000330074:p.Ala206Thr						p.A206T	NM_005322	NP_005313	P16401	H15_HUMAN			1	668	-			206					Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.616G>A	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.437693	0.01098	.	.	ENSG00000184357	ENST00000331442	T	0.14516	2.5	5.05	-1.85	0.07784	.	0.655088	0.13831	N	0.359770	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43940	-0.9360	10	0.05351	T	0.99	-6.5076	4.8171	0.13372	0.4241:0.2185:0.2921:0.0653	.	206	P16401	H15_HUMAN	T	206	ENSP00000330074:A206T	ENSP00000330074:A206T	A	-	1	0	HIST1H1B	27942671	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.871000	0.01640	-0.670000	0.05282	-0.182000	0.12963	GCT		0.552	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1		NM_005322		10	44	0	0	0	0.010729	0	10	44		
ZKSCAN8	7745	broad.mit.edu	37	6	28120950	28120950	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:28120950G>C	ENST00000330236.6	+	6	1076	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.E298Q	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	298	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAGGGGTCTTGAGCATGAAGA	0.478																																						uc003nkn.1		NaN																	0					0						c.(892-894)GAG>CAG		zinc finger protein 192							82.0	84.0	83.0					6																	28120950		2203	4300	6503	SO:0001583	missense	7745				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28120950G>C		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.892G>C	6.37:g.28120950G>C	ENSP00000332750:p.Glu298Gln					ZNF192_uc010jqx.1_Missense_Mutation_p.E298Q|ZNF192_uc010jqy.1_Missense_Mutation_p.E111Q|ZNF192_uc011dkz.1_Missense_Mutation_p.E111Q	p.E298Q	NM_006298	NP_006289	Q15776	ZN192_HUMAN			6	1076	+			298			KRAB.		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.892G>C	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990988	0.35131	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.06528	3.29;3.29	5.74	4.87	0.63330	Krueppel-associated box (1);	0.213796	0.33075	N	0.005313	T	0.01905	0.0060	N	0.24115	0.695	0.80722	D	1	B	0.26445	0.149	B	0.23574	0.047	T	0.39563	-0.9608	10	0.59425	D	0.04	.	8.5008	0.33156	0.0815:0.154:0.7644:0.0	.	298	Q15776	ZN192_HUMAN	Q	298	ENSP00000332750:E298Q;ENSP00000402948:E298Q	ENSP00000332750:E298Q	E	+	1	0	ZNF192	28228929	0.139000	0.22563	1.000000	0.80357	0.985000	0.73830	-0.133000	0.10451	1.578000	0.49821	0.655000	0.94253	GAG		0.478	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2				18	52	0	0	0	0.00499	0	18	52		
PPP1R10	5514	broad.mit.edu	37	6	30574287	30574287	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:30574287G>C	ENST00000376511.2	-	8	1144	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	198	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTGGTGCGAAGAGACTTGGGC	0.577																																						uc003nqn.1		NaN																	0				ovary(2)|lung(1)|kidney(1)	4						c.(592-594)CTT>GTT		protein phosphatase 1, regulatory subunit 10							113.0	99.0	104.0					6																	30574287		2203	4300	6503	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30574287G>C	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.592C>G	6.37:g.30574287G>C	ENSP00000365694:p.Leu198Val					PPP1R10_uc010jsc.1_5'UTR	p.L198V	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			8	1144	-			198			Interaction with TOX4 (By similarity).		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.592C>G	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518706	0.44763	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.41758	0.99	5.82	3.81	0.43845	.	0.213498	0.37530	N	0.002057	T	0.10981	0.0268	N	0.19112	0.55	0.36093	D	0.843588	P	0.52842	0.956	B	0.44224	0.444	T	0.05370	-1.0889	10	0.02654	T	1	-19.1484	10.2075	0.43122	0.2106:0.0:0.7894:0.0	.	198	Q96QC0	PP1RA_HUMAN	V	198	ENSP00000365694:L198V	ENSP00000365694:L198V	L	-	1	0	PPP1R10	30682266	1.000000	0.71417	0.939000	0.37840	0.998000	0.95712	3.710000	0.54860	1.470000	0.48102	0.591000	0.81541	CTT		0.577	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2		NM_002714		16	72	0	0	0	0.007413	0	16	72		
C6orf136	221545	broad.mit.edu	37	6	30617717	30617717	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:30617717A>G	ENST00000376473.5	+	2	614	c.455A>G	c.(454-456)tAt>tGt	p.Y152C	AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000528347.2_Missense_Mutation_p.Y9C|C6orf136_ENST00000293604.6_Missense_Mutation_p.Y333C	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	152						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCTGTCATGTATGAGAGACTG	0.527																																						uc003nqw.3		NaN																	0					0						c.(454-456)TAT>TGT		hypothetical protein LOC221545 isoform 1							109.0	75.0	87.0					6																	30617717		2203	4300	6503	SO:0001583	missense	221545							g.chr6:30617717A>G	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.455A>G	6.37:g.30617717A>G	ENSP00000365656:p.Tyr152Cys					C6orf136_uc003nqx.3_Missense_Mutation_p.Y333C|C6orf136_uc011dmn.1_Intron	p.Y152C	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN			2	648	+			152					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.455A>G	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916169	0.73098	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000446773;ENST00000528347	.	.	.	6.05	6.05	0.98169	.	0.342966	0.32703	N	0.005752	T	0.56848	0.2013	L	0.29908	0.895	0.40499	D	0.980624	D;D	0.76494	0.999;0.995	D;P	0.71870	0.975;0.907	T	0.64188	-0.6466	9	0.66056	D	0.02	-2.135	14.1164	0.65156	1.0:0.0:0.0:0.0	.	333;152	F8VX15;Q5SQH8	.;CF136_HUMAN	C	333;152;270;9	.	ENSP00000293604:Y333C	Y	+	2	0	C6orf136	30725696	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.989000	0.70587	2.320000	0.78422	0.528000	0.53228	TAT		0.527	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4		NM_145029		20	53	0	0	0	0.010504	0	20	53		
ABHD16A	7920	broad.mit.edu	37	6	31670992	31670992	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:31670992C>T	ENST00000395952.3	-	1	229	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	MIR4646_ENST00000580775.1_RNA|XXbac-BPG32J3.20_ENST00000461287.1_Intron|ABHD16A_ENST00000440843.2_5'Flank|ABHD16A_ENST00000538874.1_5'UTR|ABHD16A_ENST00000375842.4_5'Flank	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	23						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GGGGCCCTTTCAGAGTCCCTC	0.657																																						uc003nvy.1		NaN																	0					0						c.(67-69)GAA>AAA		HLA-B associated transcript 5							27.0	31.0	30.0					6																	31670992		2203	4300	6503	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31670992C>T	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.67G>A	6.37:g.31670992C>T	ENSP00000379282:p.Glu23Lys					BAT5_uc003nvx.1_5'Flank|BAT5_uc011dny.1_5'Flank|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_Intron|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_5'UTR	p.E23K	NM_021160	NP_066983	O95870	ABHGA_HUMAN			1	97	-			23					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.67G>A	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666825	0.47677	.	.	ENSG00000204427	ENST00000395952	.	.	.	5.19	5.19	0.71726	.	0.586463	0.17927	N	0.157291	T	0.23806	0.0576	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.05699	-1.0869	9	0.35671	T	0.21	-3.2688	14.5555	0.68097	0.0:1.0:0.0:0.0	.	23	O95870	ABHGA_HUMAN	K	23	.	ENSP00000379282:E23K	E	-	1	0	ABHD16A	31778971	0.973000	0.33851	0.981000	0.43875	0.903000	0.53119	3.709000	0.54853	2.595000	0.87683	0.407000	0.27541	GAA		0.657	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4				18	28	0	0	0	0.00333	0	18	28		
DXO	1797	broad.mit.edu	37	6	31938901	31938901	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:31938901G>T	ENST00000375349.3	-	3	791	c.380C>A	c.(379-381)gCc>gAc	p.A127D	DXO_ENST00000337523.5_Missense_Mutation_p.A127D|STK19_ENST00000375333.2_5'Flank|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_Missense_Mutation_p.A127D|STK19_ENST00000375331.2_5'Flank			O77932	DXO_HUMAN	decapping exoribonuclease	127					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										CGTCACTATGGCCTCTGCCAG	0.587																																						uc003nyo.1		NaN																	0					0						c.(379-381)GCC>GAC		DOM-3 homolog Z							56.0	60.0	58.0					6																	31938901		1510	2708	4218	SO:0001583	missense	1797						identical protein binding|metal ion binding|nucleotide binding	g.chr6:31938901G>T	AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.380C>A	6.37:g.31938901G>T	ENSP00000364498:p.Ala127Asp					DOM3Z_uc003nyp.1_Missense_Mutation_p.A127D|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.A127D|DOM3Z_uc003nys.1_Missense_Mutation_p.A127D|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	p.A127D	NM_005510	NP_005501	O77932	DOM3Z_HUMAN			2	914	-			127					A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	ENST00000375349.3	37	c.380C>A	CCDS4732.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815352	0.32053	.	.	ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356	T;T;T	0.13778	2.56;2.56;2.56	4.91	4.91	0.64330	.	0.056049	0.64402	D	0.000002	T	0.00967	0.0032	N	0.00788	-1.185	0.80722	D	1	B;B	0.14012	0.007;0.009	B;B	0.04013	0.001;0.001	T	0.50233	-0.8852	10	0.02654	T	1	-18.8906	6.2331	0.20747	0.092:0.0:0.7226:0.1854	.	127;127	F8WC68;O77932	.;DOM3Z_HUMAN	D	127	ENSP00000337759:A127D;ENSP00000364498:A127D;ENSP00000364505:A127D	ENSP00000337759:A127D	A	-	2	0	DOM3Z	32046880	1.000000	0.71417	0.977000	0.42913	0.563000	0.35712	2.795000	0.47861	2.541000	0.85698	0.561000	0.74099	GCC		0.587	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3				17	21	1	0	1.75199e-13	0.007291	1.83485e-13	17	21		
TNXB	7148	broad.mit.edu	37	6	32024681	32024681	+	Splice_Site	SNP	C	C	T	rs200357005		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:32024681C>T	ENST00000375244.3	-	23	8027		c.e23-1		TNXB_ENST00000375247.2_Splice_Site			P22105	TENX_HUMAN	tenascin XB						actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTTCATCCTCTGGAGTTGGA	0.582																																						uc003nzl.2		NaN																	0					0						c.e23-1		tenascin XB isoform 1 precursor							77.0	95.0	89.0					6																	32024681		1397	2601	3998	SO:0001630	splice_region_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32024681C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7826-1G>A	6.37:g.32024681C>T							p.E2609_splice	NM_019105	NP_061978	P22105	TENX_HUMAN			23	8028	-								P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Splice_Site	SNP	ENST00000375244.3	37	c.7826_splice		.	.	.	.	.	.	.	.	.	.	C	10.12	1.262040	0.23051	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	.	.	.	4.09	2.17	0.27698	.	.	.	.	.	.	.	.	.	.	.	0.25392	N	0.988516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.66	0.23009	0.0:0.7167:0.1795:0.1037	.	.	.	.	.	-1	.	.	.	-	.	.	TNXB	32132659	0.000000	0.05858	0.097000	0.21041	0.126000	0.20510	-1.384000	0.02542	0.704000	0.31869	0.306000	0.20318	.		0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105	Intron	14	41	0	0	0	0.00499	0	14	41		
PBX2	5089	broad.mit.edu	37	6	32157485	32157485	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:32157485C>T	ENST00000375050.4	-	1	478	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	70					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCCTGGGCCTCGTCCAGGCTC	0.647																																						uc003oav.1		NaN																	0				ovary(1)	1						c.(208-210)GAG>AAG		pre-B-cell leukemia homeobox 2							50.0	48.0	49.0					6																	32157485		1511	2709	4220	SO:0001583	missense	5089						transcription factor binding	g.chr6:32157485C>T		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.208G>A	6.37:g.32157485C>T	ENSP00000364190:p.Glu70Lys					PBX2_uc003oaw.2_Missense_Mutation_p.E70K	p.E70K	NM_002586	NP_002577	P40425	PBX2_HUMAN			1	479	-			70					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.208G>A	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449408	0.63178	.	.	ENSG00000204304	ENST00000375050	T	0.39406	1.08	3.97	3.08	0.35506	PBX (1);	0.242939	0.26414	N	0.024509	T	0.33760	0.0874	M	0.85859	2.78	0.53688	D	0.999979	P;P	0.49307	0.53;0.922	B;B	0.41466	0.086;0.358	T	0.42361	-0.9456	10	0.72032	D	0.01	-11.9812	10.5476	0.45068	0.1948:0.8052:0.0:0.0	.	70;70	Q7KZE5;P40425	.;PBX2_HUMAN	K	70	ENSP00000364190:E70K	ENSP00000364190:E70K	E	-	1	0	PBX2	32265463	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.353000	0.79414	0.844000	0.35094	-0.324000	0.08512	GAG		0.647	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4				15	34	0	0	0	0.003163	0	15	34		
HLA-DOA	3111	broad.mit.edu	37	6	32977305	32977305	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:32977305G>A	ENST00000229829.5	-	1	84	c.9C>T	c.(7-9)ctC>ctT	p.L3L	HLA-DOA_ENST00000450833.2_5'UTR|HLA-DOA_ENST00000495532.1_5'Flank	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	3					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GCCCTGCTCTGAGGGCCATTA	0.587																																						uc003ocr.2		NaN																	0					0						c.(7-9)CTC>CTT		major histocompatibility complex, class II, DO							47.0	34.0	39.0					6																	32977305		1510	2708	4218	SO:0001819	synonymous_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32977305G>A	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.9C>T	6.37:g.32977305G>A						HLA-DOA_uc010juj.2_5'UTR|HLA-DOA_uc010jui.2_Silent_p.L3L	p.L3L	NM_002119	NP_002110	P06340	DOA_HUMAN			1	85	-			3					Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.9C>T	CCDS4763.1																																																																																				0.587	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2		NM_002119		4	19	0	0	0	0.009096	0	4	19		
B3GALT4	8705	broad.mit.edu	37	6	33245448	33245448	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:33245448G>C	ENST00000451237.1	+	1	532	c.252G>C	c.(250-252)ctG>ctC	p.L84L		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	84					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CGGAGAACCTGAACCAGAGAA	0.667																																						uc003odr.2		NaN																	0				ovary(1)|breast(1)	2						c.(250-252)CTG>CTC		UDP-Gal:betaGlcNAc beta							58.0	73.0	68.0					6																	33245448		2194	4290	6484	SO:0001819	synonymous_variant	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245448G>C	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.252G>C	6.37:g.33245448G>C							p.L84L	NM_003782	NP_003773	O96024	B3GT4_HUMAN			1	532	+			84			Lumenal (Potential).			Silent	SNP	ENST00000451237.1	37	c.252G>C	CCDS34425.1																																																																																				0.667	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2				36	82	0	0	0	0.004289	0	36	82		
WDR46	9277	broad.mit.edu	37	6	33247078	33247078	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:33247078G>C	ENST00000374617.4	-	15	2164	c.1808C>G	c.(1807-1809)tCt>tGt	p.S603C	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	603							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GTCCAGGGCAGATGGCCGGGC	0.612																																						uc003ods.2		NaN																	0					0						c.(1807-1809)TCT>TGT		WD repeat domain 46 isoform 1							90.0	98.0	96.0					6																	33247078		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33247078G>C	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1808C>G	6.37:g.33247078G>C	ENSP00000363746:p.Ser603Cys					WDR46_uc011dra.1_Missense_Mutation_p.S549C	p.S603C	NM_005452	NP_005443	O15213	WDR46_HUMAN			15	1852	-			603					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.1808C>G	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296000	0.81025	.	.	ENSG00000227057	ENST00000374617	T	0.22134	1.97	5.49	5.49	0.81192	.	0.104704	0.64402	D	0.000002	T	0.38692	0.1050	M	0.73962	2.25	0.50313	D	0.99986	D;D	0.89917	1.0;1.0	D;D	0.72982	0.957;0.979	T	0.12553	-1.0543	10	0.72032	D	0.01	-19.8307	14.7521	0.69533	0.0:0.0:1.0:0.0	.	549;603	B4DP15;O15213	.;WDR46_HUMAN	C	603	ENSP00000363746:S603C	ENSP00000363746:S603C	S	-	2	0	WDR46	33355056	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	3.131000	0.50515	2.863000	0.98299	0.549000	0.68633	TCT		0.612	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2		NM_005452		29	137	0	0	0	0.010818	0	29	137		
UHRF1BP1	54887	broad.mit.edu	37	6	34831871	34831871	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:34831871C>T	ENST00000192788.5	+	15	3479	c.3308C>T	c.(3307-3309)tCt>tTt	p.S1103F	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S1103F	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1103							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGACGGTATCTCAACAGTCA	0.522																																						uc003oju.3		NaN																	0				ovary(3)	3						c.(3307-3309)TCT>TTT		ICBP90 binding protein 1							136.0	143.0	140.0					6																	34831871		2026	4183	6209	SO:0001583	missense	54887							g.chr6:34831871C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3308C>T	6.37:g.34831871C>T	ENSP00000192788:p.Ser1103Phe					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_Intron	p.S1103F	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			15	3542	+			1103					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.3308C>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617877	0.87359	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.20598	2.06;2.06	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	M	0.71036	2.16	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.11567	-1.0582	10	0.59425	D	0.04	-18.1246	18.7597	0.91845	0.0:1.0:0.0:0.0	.	1103	Q6BDS2	URFB1_HUMAN	F	1103	ENSP00000192788:S1103F;ENSP00000400628:S1103F	ENSP00000192788:S1103F	S	+	2	0	UHRF1BP1	34939849	1.000000	0.71417	0.985000	0.45067	0.667000	0.39255	6.840000	0.75369	2.873000	0.98535	0.561000	0.74099	TCT		0.522	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1		NM_017754		16	49	0	0	0	0.008871	0	16	49		
C6orf222	389384	broad.mit.edu	37	6	36291244	36291244	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:36291244G>C	ENST00000437635.2	-	8	1474	c.1297C>G	c.(1297-1299)Caa>Gaa	p.Q433E		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	433										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTTTTTTCTTGAGATTTCCTT	0.562																																						uc003oly.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1297-1299)CAA>GAA		hypothetical protein LOC389384							134.0	138.0	137.0					6																	36291244		2203	4300	6503	SO:0001583	missense	389384							g.chr6:36291244G>C		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1297C>G	6.37:g.36291244G>C	ENSP00000418983:p.Gln433Glu						p.Q433E	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			8	1475	-			433					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.1297C>G	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	G	6.697	0.497239	0.12762	.	.	ENSG00000189325	ENST00000437635	T	0.60040	0.22	4.68	2.9	0.33743	.	1.450880	0.04250	N	0.338414	T	0.39517	0.1081	M	0.71036	2.16	0.09310	N	1	B	0.25609	0.13	B	0.29353	0.101	T	0.38067	-0.9678	10	0.33141	T	0.24	-28.8728	9.3612	0.38197	0.0886:0.1495:0.7619:0.0	.	433	P0C671	CF222_HUMAN	E	433	ENSP00000418983:Q433E	ENSP00000418983:Q433E	Q	-	1	0	C6orf222	36399222	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.134000	0.31442	0.272000	0.22027	-0.795000	0.03280	CAA		0.562	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2		NM_001010903		52	171	0	0	0	0.01441	0	52	171		
KCTD20	222658	broad.mit.edu	37	6	36452534	36452534	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:36452534G>A	ENST00000373731.2	+	7	1291	c.900G>A	c.(898-900)gaG>gaA	p.E300E	KCTD20_ENST00000449081.2_Silent_p.E134E|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000544295.1_Silent_p.E54E|KCTD20_ENST00000536244.1_Silent_p.E155E	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	300					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						AATATATTGAGAATAGGGATG	0.343																																						uc003ome.2		NaN																	0				ovary(2)	2						c.(898-900)GAG>GAA		potassium channel tetramerisation domain							126.0	147.0	140.0					6																	36452534		2202	4300	6502	SO:0001819	synonymous_variant	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36452534G>A	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.900G>A	6.37:g.36452534G>A						KCTD20_uc011dtm.1_Silent_p.E155E|KCTD20_uc011dtn.1_Silent_p.E54E|KCTD20_uc010jwk.2_Silent_p.E134E|KCTD20_uc011dto.1_Silent_p.E54E	p.E300E	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN			7	1291	+			300					B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Silent	SNP	ENST00000373731.2	37	c.900G>A	CCDS4821.1																																																																																				0.343	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2		NM_173562		125	109	0	0	0	0.01441	0	125	109		
CDKN1A	1026	broad.mit.edu	37	6	36652272	36652272	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:36652272G>T	ENST00000405375.1	+	2	629	c.394G>T	c.(394-396)Ggt>Tgt	p.G132C	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.G132C|CDKN1A_ENST00000244741.5_Missense_Mutation_p.G132C|CDKN1A_ENST00000448526.2_Missense_Mutation_p.G166C	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	132					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						AGGGTCCCCAGGTGGACCTGG	0.592																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(394-396)GGT>TGT		cyclin-dependent kinase inhibitor 1A							50.0	52.0	51.0					6																	36652272		2203	4300	6503	SO:0001583	missense	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652272G>T	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.394G>T	6.37:g.36652272G>T	ENSP00000384849:p.Gly132Cys					CDKN1A_uc011dtq.1_Missense_Mutation_p.G166C|CDKN1A_uc003oml.2_Missense_Mutation_p.G132C|CDKN1A_uc003omn.2_Missense_Mutation_p.G132C	p.G132C	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	516	+			132					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.394G>T	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824023	0.32237	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	4.23	3.36	0.38483	.	0.364758	0.23902	N	0.043431	T	0.66519	0.2797	L	0.47190	1.495	0.09310	N	0.999994	D;D;D	0.71674	0.998;0.986;0.997	P;P;P	0.60789	0.879;0.754;0.769	T	0.57376	-0.7822	10	0.45353	T	0.12	-10.112	7.8956	0.29704	0.11:0.0:0.89:0.0	.	166;132;132	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	C	166;132;132;132	ENSP00000409259:G166C;ENSP00000244741:G132C;ENSP00000384849:G132C;ENSP00000362815:G132C	ENSP00000244741:G132C	G	+	1	0	CDKN1A	36760250	0.087000	0.21565	0.021000	0.16686	0.338000	0.28826	2.317000	0.43770	1.376000	0.46267	0.561000	0.74099	GGT		0.592	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		12	27	1	0	9.05144e-12	0.001855	9.45218e-12	12	27		
CMTR1	23070	broad.mit.edu	37	6	37419600	37419600	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:37419600G>C	ENST00000373451.4	+	6	720	c.556G>C	c.(556-558)Gat>Cat	p.D186H		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	186					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GATTATTGAAGATGAAACAGA	0.423																																						uc003ons.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(556-558)GAT>CAT		FtsJ methyltransferase domain containing 2							142.0	136.0	138.0					6																	37419600		2203	4300	6503	SO:0001583	missense	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37419600G>C	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.556G>C	6.37:g.37419600G>C	ENSP00000362550:p.Asp186His					FTSJD2_uc010jwu.2_Missense_Mutation_p.D186H	p.D186H	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			6	809	+			186					A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	c.556G>C	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920783	0.92249	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.82337	0.5015	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.962	D	0.84148	0.0421	9	0.72032	D	0.01	-17.759	18.894	0.92416	0.0:0.0:1.0:0.0	.	186;186	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	H	186	.	ENSP00000362526:D186H	D	+	1	0	FTSJD2	37527578	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.623000	0.98386	2.716000	0.92895	0.561000	0.74099	GAT		0.423	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1		NM_015050		22	62	0	0	0	0.00278	0	22	62		
DAAM2	23500	broad.mit.edu	37	6	39865036	39865036	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:39865036C>G	ENST00000398904.2	+	21	2778	c.2596C>G	c.(2596-2598)Ctt>Gtt	p.L866V	RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.L866V|DAAM2_ENST00000538976.1_Missense_Mutation_p.L866V			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	866	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCTGCAACATCTTCCAGAAGC	0.448																																						uc003oow.2		NaN																	0				ovary(2)|skin(1)	3						c.(2596-2598)CTT>GTT		dishevelled associated activator of							99.0	97.0	98.0					6																	39865036		1927	4154	6081	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39865036C>G	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2596C>G	6.37:g.39865036C>G	ENSP00000381876:p.Leu866Val					DAAM2_uc003oox.2_Missense_Mutation_p.L866V	p.L866V	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			21	2752	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		866			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2596C>G	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180212	0.38511	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.10477	2.87;2.87;2.87	4.93	4.06	0.47325	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.318298	0.30210	N	0.010155	T	0.01558	0.0050	N	0.02854	-0.475	0.80722	D	1	B;B	0.23316	0.067;0.083	B;B	0.31869	0.084;0.137	T	0.34079	-0.9843	10	0.02654	T	1	.	14.2741	0.66167	0.0:0.8496:0.1504:0.0	.	866;866	G5EA45;Q86T65	.;DAAM2_HUMAN	V	866	ENSP00000274867:L866V;ENSP00000381876:L866V;ENSP00000437808:L866V	ENSP00000274867:L866V	L	+	1	0	DAAM2	39973014	0.721000	0.28007	0.977000	0.42913	0.910000	0.53928	0.875000	0.28079	1.288000	0.44600	-0.305000	0.09177	CTT		0.448	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1				34	80	0	0	0	0.003755	0	34	80		
MOCS1	4337	broad.mit.edu	37	6	39895072	39895072	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:39895072G>A	ENST00000340692.5	-	2	249	c.246C>T	c.(244-246)ctC>ctT	p.L82L	MOCS1_ENST00000432280.2_Silent_p.L53L|MOCS1_ENST00000373188.2_Silent_p.L82L|MOCS1_ENST00000425303.2_Silent_p.L82L|MOCS1_ENST00000308559.7_Silent_p.L82L|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000373175.4_Silent_p.L53L|MOCS1_ENST00000373186.4_Silent_p.L82L			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	82	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACTCACATCTGAGGTTGCACT	0.602																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	uc003opb.2		NaN																	0				ovary(1)|liver(1)|central_nervous_system(1)	3						c.(244-246)CTC>CTT		molybdenum cofactor synthesis-step 1 protein							38.0	39.0	39.0					6																	39895072		2203	4298	6501	SO:0001819	synonymous_variant	4337				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39895072G>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.246C>T	6.37:g.39895072G>A						MOCS1_uc003opa.2_Silent_p.L82L|MOCS1_uc003opc.2_Silent_p.L82L|MOCS1_uc003opd.2_Silent_p.L82L|MOCS1_uc003ope.2_Intron	p.L82L	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN			1	384	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		82			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37	c.246C>T																																																																																					0.602	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2		NM_005943		8	74	0	0	0	0.00308	0	8	74		
TREML1	340205	broad.mit.edu	37	6	41121535	41121535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:41121535G>A	ENST00000426005.2	-	2	380	c.337C>T	c.(337-339)Cag>Tag	p.Q113*	TREML1_ENST00000437044.2_Intron|TREML1_ENST00000373127.4_Nonsense_Mutation_p.Q113*	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	113	Ig-like V-type.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCAAAATCTGGGGCCCCCTG	0.607																																						uc011duc.1		NaN																	0				breast(1)	1						c.(337-339)CAG>TAG		triggering receptor expressed on myeloid							47.0	54.0	51.0					6																	41121535		2203	4300	6503	SO:0001587	stop_gained	340205				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	g.chr6:41121535G>A	AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"""Immunoglobulin superfamily / V-set domain containing"""	20434	protein-coding gene	gene with protein product	"""TREM-like transcript 1"""	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.337C>T	6.37:g.41121535G>A	ENSP00000402855:p.Gln113*					TREML1_uc003opx.2_Nonsense_Mutation_p.Q113*|TREML1_uc011dud.1_Intron	p.Q113*	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN			2	381	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		113			Ig-like V-type.|Extracellular (Potential).		Q496B3|Q8IWY1|Q8IWY2	Nonsense_Mutation	SNP	ENST00000426005.2	37	c.337C>T	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546725	0.45383	.	.	ENSG00000161911	ENST00000373127;ENST00000426005	.	.	.	6.08	4.3	0.51218	.	0.228708	0.31450	N	0.007627	.	.	.	.	.	.	0.35716	D	0.816741	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	8.5637	0.33527	0.0805:0.1531:0.7664:0.0	.	.	.	.	X	113	.	ENSP00000362219:Q113X	Q	-	1	0	TREML1	41229513	0.970000	0.33590	0.940000	0.37924	0.019000	0.09904	3.059000	0.49947	0.901000	0.36495	-0.165000	0.13383	CAG		0.607	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2		NM_178174		102	37	0	0	0	0.01441	0	102	37		
TREM2	54209	broad.mit.edu	37	6	41129313	41129313	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:41129313C>T	ENST00000373113.3	-	2	172	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	TREM2_ENST00000338469.3_Missense_Mutation_p.V27M|TREM2_ENST00000373122.4_Missense_Mutation_p.V27M	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	27					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCCCGCCACGCCCTGGAAC	0.592																																						uc003opy.2		NaN																	0				ovary(1)	1						c.(79-81)GTG>ATG		triggering receptor expressed on myeloid cells 2							33.0	32.0	32.0					6																	41129313		2203	4300	6503	SO:0001583	missense	54209				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr6:41129313C>T	AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.79G>A	6.37:g.41129313C>T	ENSP00000362205:p.Val27Met					TREM2_uc003opz.2_Missense_Mutation_p.V57M|TREM2_uc010jxl.1_Missense_Mutation_p.V57M	p.V27M	NM_018965	NP_061838	Q9NZC2	TREM2_HUMAN			2	181	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		27			Extracellular (Potential).		Q8N5H8|Q8WYN6	Missense_Mutation	SNP	ENST00000373113.3	37	c.79G>A	CCDS4852.1	.	.	.	.	.	.	.	.	.	.	C	2.176	-0.388637	0.04932	.	.	ENSG00000095970	ENST00000373113;ENST00000338469;ENST00000373122	T;T;T	0.67171	-0.25;-0.25;-0.25	5.51	-0.0116	0.13991	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.644442	0.15207	N	0.274661	T	0.15696	0.0378	N	0.15975	0.35	0.09310	N	1	P;P;B	0.39352	0.669;0.669;0.167	B;B;B	0.24394	0.053;0.053;0.024	T	0.16867	-1.0388	10	0.22109	T	0.4	-1.6992	5.7705	0.18251	0.0:0.3319:0.1557:0.5124	.	27;27;27	Q9NZC2-2;Q9NZC2-3;Q9NZC2	.;.;TREM2_HUMAN	M	27	ENSP00000362205:V27M;ENSP00000342651:V27M;ENSP00000362214:V27M	ENSP00000342651:V27M	V	-	1	0	TREM2	41237291	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	-0.298000	0.08265	-0.062000	0.13088	0.561000	0.74099	GTG		0.592	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1		NM_018965		5	51	0	0	0	0.010729	0	5	51		
UBR2	23304	broad.mit.edu	37	6	42532121	42532121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:42532121G>T	ENST00000372899.1	+	1	322	c.64G>T	c.(64-66)Gag>Tag	p.E22*	UBR2_ENST00000372903.2_Nonsense_Mutation_p.E22*|UBR2_ENST00000372901.1_Nonsense_Mutation_p.E22*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	22					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGTTCGGCCGAGGAGATTGC	0.697																																						uc011dur.1		NaN																	0				ovary(3)|pancreas(1)	4						c.(64-66)GAG>TAG		ubiquitin protein ligase E3 component n-recognin							63.0	58.0	60.0					6																	42532121		2202	4300	6502	SO:0001587	stop_gained	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42532121G>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.64G>T	6.37:g.42532121G>T	ENSP00000361990:p.Glu22*					UBR2_uc003osf.2_Nonsense_Mutation_p.E22*	p.E22*	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		1	64	+	Colorectal(47;0.196)		22					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Nonsense_Mutation	SNP	ENST00000372899.1	37	c.64G>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	40	8.176305	0.98691	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	.	.	.	4.9	4.9	0.64082	.	0.186940	0.46442	D	0.000288	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-3.2906	16.2567	0.82522	0.0:0.0:1.0:0.0	.	.	.	.	X	22	.	ENSP00000361990:E22X	E	+	1	0	UBR2	42640099	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	4.327000	0.59247	2.246000	0.74042	0.462000	0.41574	GAG		0.697	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2		NM_015255		9	7	1	0	2.17888e-05	0.006214	2.22502e-05	9	7		
TBCC	6903	broad.mit.edu	37	6	42713401	42713401	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:42713401G>A	ENST00000372876.1	-	1	433	c.411C>T	c.(409-411)ttC>ttT	p.F137F	TBCC_ENST00000244625.2_Silent_p.F137F	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	137					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TCTTGAAAGCGAAACGCTTCT	0.662																																						uc003osl.2		NaN																	0					0						c.(409-411)TTC>TTT		beta-tubulin cofactor C							17.0	20.0	19.0					6																	42713401		2199	4296	6495	SO:0001819	synonymous_variant	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713401G>A	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.411C>T	6.37:g.42713401G>A							p.F137F	NM_003192	NP_003183	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		1	484	-	Colorectal(47;0.196)		137					Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	c.411C>T	CCDS4872.1																																																																																				0.662	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1		NM_003192		6	41	0	0	0	0.001984	0	6	41		
MEA1	4201	broad.mit.edu	37	6	42981053	42981053	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:42981053C>T	ENST00000244711.3	-	2	257	c.103G>A	c.(103-105)Gag>Aag	p.E35K	KLHDC3_ENST00000244670.8_5'Flank|KLHDC3_ENST00000326974.4_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	35					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCAGTTCCTCAGTCTGATTG	0.607																																						uc003otk.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(103-105)GAG>AAG		male-enhanced antigen							100.0	100.0	100.0					6																	42981053		2203	4300	6503	SO:0001583	missense	4201				cell differentiation|male gonad development|spermatogenesis		protein binding	g.chr6:42981053C>T		CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"""male-enhanced antigen"""	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.103G>A	6.37:g.42981053C>T	ENSP00000244711:p.Glu35Lys					MEA1_uc010jyc.1_Missense_Mutation_p.E22K|KLHDC3_uc003otl.2_5'Flank|KLHDC3_uc003otm.2_5'Flank|KLHDC3_uc010jyf.2_5'Flank|KLHDC3_uc003otn.2_5'Flank	p.E35K	NM_014623	NP_055438	Q16626	MEA1_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		2	170	-			35					Q5TC36|Q9BV01	Missense_Mutation	SNP	ENST00000244711.3	37	c.103G>A	CCDS4879.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287566	0.95517	.	.	ENSG00000124733	ENST00000244711	T	0.54866	0.55	5.92	5.06	0.68205	.	0.112207	0.64402	D	0.000013	T	0.26122	0.0637	L	0.27053	0.805	0.47183	D	0.999346	B	0.10296	0.003	B	0.17098	0.017	T	0.16364	-1.0405	10	0.62326	D	0.03	-11.0086	12.8786	0.58003	0.0:0.9217:0.0:0.0783	.	35	Q16626	MEA1_HUMAN	K	35	ENSP00000244711:E35K	ENSP00000244711:E35K	E	-	1	0	MEA1	43089031	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	4.282000	0.58971	1.522000	0.49001	-0.237000	0.12165	GAG		0.607	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040574.2				28	157	0	0	0	0.008361	0	28	157		
CUL9	23113	broad.mit.edu	37	6	43181188	43181188	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:43181188G>C	ENST00000252050.4	+	28	5455	c.5371G>C	c.(5371-5373)Gag>Cag	p.E1791Q	CUL9_ENST00000372647.2_Missense_Mutation_p.E1791Q|CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Missense_Mutation_p.E1681Q|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1791					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGTGTCAGTAGAGACCTTGCT	0.557																																						uc003ouk.2		NaN																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(5371-5373)GAG>CAG		p53-associated parkin-like cytoplasmic protein							71.0	73.0	72.0					6																	43181188		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43181188G>C	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5371G>C	6.37:g.43181188G>C	ENSP00000252050:p.Glu1791Gln					CUL9_uc003oul.2_Missense_Mutation_p.E1791Q|CUL9_uc010jyk.2_Missense_Mutation_p.E943Q|CUL9_uc003oun.2_5'Flank	p.E1791Q	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			28	5446	+			1791					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.5371G>C	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659470	0.88154	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.78246	-1.16;-1.16;-1.16	5.07	5.07	0.68467	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);	0.222431	0.44902	D	0.000410	T	0.81074	0.4747	L	0.43152	1.355	0.49915	D	0.999834	D;D;D	0.76494	0.999;0.969;0.969	D;P;P	0.65443	0.935;0.843;0.843	D	0.83631	0.0145	10	0.87932	D	0	-22.5371	18.4553	0.90718	0.0:0.0:1.0:0.0	.	1681;1791;1791	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	Q	1791;1681;1791	ENSP00000252050:E1791Q;ENSP00000346490:E1681Q;ENSP00000361730:E1791Q	ENSP00000252050:E1791Q	E	+	1	0	CUL9	43289166	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.436000	0.66538	2.351000	0.79841	0.655000	0.94253	GAG		0.557	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089		13	96	0	0	0	0.001855	0	13	96		
CUL9	23113	broad.mit.edu	37	6	43190340	43190340	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:43190340C>T	ENST00000252050.4	+	37	7077	c.6993C>T	c.(6991-6993)ttC>ttT	p.F2331F	CUL9_ENST00000372647.2_Silent_p.F2303F|CUL9_ENST00000354495.3_Silent_p.F2221F|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2331					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCTTCACCTTCCTCAATGATG	0.607																																						uc003ouk.2		NaN																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(6991-6993)TTC>TTT		p53-associated parkin-like cytoplasmic protein							54.0	53.0	53.0					6																	43190340		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43190340C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6993C>T	6.37:g.43190340C>T						CUL9_uc003oul.2_Silent_p.F2303F|CUL9_uc010jyk.2_Silent_p.F1483F|CUL9_uc003oun.2_Silent_p.F126F	p.F2331F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			37	7068	+			2331					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.6993C>T	CCDS4890.1																																																																																				0.607	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089		27	39	0	0	0	0.00632	0	27	39		
ZNF318	24149	broad.mit.edu	37	6	43323779	43323779	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:43323779C>T	ENST00000361428.2	-	4	1370	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	ZNF318_ENST00000318149.3_Silent_p.E431E	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	431					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGTTTTCAATCTCTGAGGCAA	0.522																																						uc003oux.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(1291-1293)GAG>GAA		zinc finger protein 318							62.0	64.0	63.0					6																	43323779		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323779C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1293G>A	6.37:g.43323779C>T						ZNF318_uc003ouw.2_RNA	p.E431E	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1371	-			431					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.1293G>A	CCDS4895.2																																																																																				0.522	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2		NM_014345		72	84	0	0	0	0.01441	0	72	84		
LRRC73	221424	broad.mit.edu	37	6	43475602	43475602	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:43475602C>T	ENST00000372441.1	-	4	1519	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	207																	CCCTCCAAGTCTAGGACCTCT	0.562																																						uc003ovk.1		NaN																	0					0						c.(619-621)GAC>AAC		hypothetical protein LOC221424							100.0	82.0	88.0					6																	43475602		2203	4300	6503	SO:0001583	missense	221424							g.chr6:43475602C>T		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.619G>A	6.37:g.43475602C>T	ENSP00000361518:p.Asp207Asn					C6orf154_uc003ovj.1_Missense_Mutation_p.D16N	p.D207N	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		4	1520	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		207			LRR 6.			Missense_Mutation	SNP	ENST00000372441.1	37	c.619G>A	CCDS34456.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067888	0.93950	.	.	ENSG00000204052	ENST00000372441	T	0.55234	0.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.59144	-0.7509	10	0.31617	T	0.26	-18.814	19.4242	0.94734	0.0:1.0:0.0:0.0	.	207	Q5JTD7	CF154_HUMAN	N	207	ENSP00000361518:D207N	ENSP00000361518:D207N	D	-	1	0	C6orf154	43583580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.481000	0.66826	2.590000	0.87494	0.561000	0.74099	GAC		0.562	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1		NM_001012974		7	36	0	0	0	0.001984	0	7	36		
GPR110	266977	broad.mit.edu	37	6	46977464	46977464	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:46977464G>A	ENST00000371253.2	-	11	1922	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.F372F	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	569	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCAATATGGAGAAGGAGGTCA	0.448																																						uc003oyt.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1705-1707)TTC>TTT		G-protein coupled receptor 110 isoform 1							146.0	128.0	134.0					6																	46977464		2203	4300	6503	SO:0001819	synonymous_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977464G>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1707C>T	6.37:g.46977464G>A						GPR110_uc011dwl.1_Silent_p.F257F	p.F569F	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	1906	-			569			GPS.|Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	c.1707C>T	CCDS34471.1																																																																																				0.448	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2		NM_153840		16	67	0	0	0	0.00499	0	16	67		
CRISP3	10321	broad.mit.edu	37	6	49700942	49700942	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:49700942G>C	ENST00000393666.1	-	5	493	c.487C>G	c.(487-489)Cta>Gta	p.L163V	CRISP3_ENST00000433368.2_Missense_Mutation_p.L186V|CRISP3_ENST00000263045.4_Missense_Mutation_p.L176V|CRISP3_ENST00000371159.4_Missense_Mutation_p.L194V|CRISP3_ENST00000423399.2_Missense_Mutation_p.L73V			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	163	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAGTATTTTAGAACTTTTTGA	0.303																																						uc003ozs.2		NaN																	0				skin(2)	2						c.(487-489)CTA>GTA		cysteine-rich secretory protein 3 precursor							123.0	126.0	125.0					6																	49700942		2203	4299	6502	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49700942G>C	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.487C>G	6.37:g.49700942G>C	ENSP00000377274:p.Leu163Val						p.L163V	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		6	502	-	Lung NSC(77;0.0161)		163					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.487C>G		.	.	.	.	.	.	.	.	.	.	G	14.15	2.448641	0.43531	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	T;T;T;T;T;T	0.42900	2.96;2.96;2.96;0.96;2.96;2.96	5.16	-0.521	0.11931	CAP domain (3);	0.572482	0.14451	U	0.318784	T	0.40015	0.1100	M	0.76838	2.35	0.09310	N	1	D	0.65815	0.995	D	0.66602	0.945	T	0.34601	-0.9822	10	0.22706	T	0.39	.	8.5636	0.33525	0.7483:0.0:0.2517:0.0	.	163	P54108	CRIS3_HUMAN	V	176;186;163;73;194;186	ENSP00000263045:L176V;ENSP00000389026:L186V;ENSP00000377274:L163V;ENSP00000410469:L73V;ENSP00000360201:L194V;ENSP00000346636:L186V	ENSP00000263045:L176V	L	-	1	2	CRISP3	49808901	0.010000	0.17322	0.000000	0.03702	0.004000	0.04260	1.462000	0.35266	-0.081000	0.12662	0.561000	0.74099	CTA		0.303	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_006061		40	161	0	0	0	0.00623	0	40	161		
PGK2	5232	broad.mit.edu	37	6	49753659	49753659	+	Silent	SNP	G	G	A	rs142237772	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:49753659G>A	ENST00000304801.3	-	1	1394	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	414					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACATGTTGCTGAGGGCCTCTA	0.433													G|||	4	0.000798722	0.003	0.0	5008	,	,		20226	0.0		0.0	False		,,,				2504	0.0					uc003ozu.2		NaN																	0				ovary(1)	1						c.(1240-1242)CTC>CTT		phosphoglycerate kinase 2		G		11,4395	17.9+/-39.9	0,11,2192	61.0	61.0	61.0		1242	1.2	1.0	6	dbSNP_134	61	0,8600		0,0,4300	no	coding-synonymous	PGK2	NM_138733.4		0,11,6492	AA,AG,GG		0.0,0.2497,0.0846		414/418	49753659	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49753659G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.1242C>T	6.37:g.49753659G>A							p.L414L	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	1349	-	Lung NSC(77;0.0402)		414					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.1242C>T	CCDS4930.1																																																																																				0.433	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1				38	60	0	0	0	0.006999	0	38	60		
PKHD1	5314	broad.mit.edu	37	6	51612670	51612670	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:51612670G>A	ENST00000371117.3	-	58	10019	c.9744C>T	c.(9742-9744)ttC>ttT	p.F3248F	PKHD1_ENST00000340994.4_Silent_p.F3248F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3248					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTCTGAGGTGAATACAGGCC	0.448																																						uc003pah.1		NaN																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(9742-9744)TTC>TTT		fibrocystin isoform 1							114.0	109.0	110.0					6																	51612670		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612670G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9744C>T	6.37:g.51612670G>A						PKHD1_uc010jzn.1_Silent_p.F1231F|PKHD1_uc003pai.2_Silent_p.F3248F	p.F3248F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			58	10020	-	Lung NSC(77;0.0605)		3248			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.9744C>T	CCDS4935.1																																																																																				0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		53	97	0	0	0	0.01441	0	53	97		
IL17F	112744	broad.mit.edu	37	6	52103570	52103570	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:52103570G>C	ENST00000336123.4	-	2	319	c.212C>G	c.(211-213)tCa>tGa	p.S71*		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	71					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GATGTTACGTGACATGGAAAC	0.438																																						uc003pam.1		NaN																	0				ovary(1)	1						c.(211-213)TCA>TGA		interleukin 17F precursor							80.0	80.0	80.0					6																	52103570		2203	4300	6503	SO:0001587	stop_gained	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52103570G>C	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.212C>G	6.37:g.52103570G>C	ENSP00000337432:p.Ser71*					IL17F_uc003pal.1_Nonsense_Mutation_p.S17*	p.S71*	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN			2	283	-	Lung NSC(77;0.116)		71					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Nonsense_Mutation	SNP	ENST00000336123.4	37	c.212C>G	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501384	0.64298	.	.	ENSG00000112116	ENST00000336123	.	.	.	5.76	-0.523	0.11924	.	1.625700	0.02998	N	0.147770	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	1.0834	4.984	0.14180	0.4706:0.1539:0.3755:0.0	.	.	.	.	X	71	.	ENSP00000337432:S71X	S	-	2	0	IL17F	52211529	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.340000	0.19892	-0.085000	0.12573	-0.172000	0.13284	TCA		0.438	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3		NM_052872		11	48	0	0	0	0.010729	0	11	48		
MCM3	4172	broad.mit.edu	37	6	52129560	52129560	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:52129560G>C	ENST00000229854.7	-	17	2329	c.2253C>G	c.(2251-2253)ctC>ctG	p.L751L	MCM3_ENST00000596288.1_Silent_p.L796L|MCM3_ENST00000419835.2_Silent_p.L705L			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	751					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ACACATCCAAGAGGGCCACCT	0.507																																						uc003pan.1		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(2251-2253)CTC>CTG		minichromosome maintenance complex component 3							116.0	113.0	114.0					6																	52129560		2203	4300	6503	SO:0001819	synonymous_variant	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52129560G>C	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2253C>G	6.37:g.52129560G>C						MCM3_uc011dwu.1_Silent_p.L705L	p.L751L	NM_002388	NP_002379	P25205	MCM3_HUMAN			17	2363	-	Lung NSC(77;0.0931)		751					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37	c.2253C>G		.	.	.	.	.	.	.	.	.	.	G	10.53	1.375961	0.24857	.	.	ENSG00000112118	ENST00000340349;ENST00000421471	T	0.34859	1.34	5.39	3.56	0.40772	.	0.065299	0.64402	D	0.000005	T	0.29850	0.0746	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17806	-1.0357	7	0.87932	D	0	-21.2398	5.7101	0.17931	0.2323:0.2495:0.5182:0.0	.	.	.	.	V	299;297	ENSP00000407651:L297V	ENSP00000340566:L299V	L	-	1	0	MCM3	52237519	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.442000	0.21628	0.784000	0.33661	0.655000	0.94253	CTT		0.507	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1				56	91	0	0	0	0.01441	0	56	91		
GSTA5	221357	broad.mit.edu	37	6	52701150	52701150	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:52701150G>A	ENST00000370989.2	-	3	185	c.156C>T	c.(154-156)ttC>ttT	p.F52F	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Silent_p.F52F			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	52	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	GTACTTGCTGGAACAGCAAAC	0.403																																						uc003pba.1		NaN																	0				ovary(1)	1						c.(154-156)TTC>TTT		glutathione S-transferase alpha 5	Glutathione(DB00143)						96.0	95.0	95.0					6																	52701150		2203	4300	6503	SO:0001819	synonymous_variant	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52701150G>A	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.156C>T	6.37:g.52701150G>A							p.F52F	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			4	226	-	Lung NSC(77;0.0912)		52			GST N-terminal.		Q5SZC2	Silent	SNP	ENST00000370989.2	37	c.156C>T	CCDS4946.1																																																																																				0.403	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1		NM_153699		30	149	0	0	0	0.008361	0	30	149		
LRRC1	55227	broad.mit.edu	37	6	53660187	53660187	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:53660187G>C	ENST00000370888.1	+	1	410	c.133G>C	c.(133-135)Gcc>Ccc	p.A45P	RP13-476E20.1_ENST00000429053.1_RNA|LRRC1_ENST00000370882.1_Missense_Mutation_p.A45P	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	45						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GCTGCTGGACGCCAACCAGCT	0.667																																						uc003pcd.1		NaN																	0				ovary(1)	1						c.(133-135)GCC>CCC		leucine rich repeat containing 1							36.0	35.0	35.0					6																	53660187		2203	4300	6503	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53660187G>C	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.133G>C	6.37:g.53660187G>C	ENSP00000359925:p.Ala45Pro						p.A45P	NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	1	410	+	Lung NSC(77;0.0147)		45			LRR 2.		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.133G>C	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	G	35	5.443305	0.96187	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.58652	0.32;0.32	4.88	4.88	0.63580	.	0.151263	0.41823	D	0.000807	T	0.62600	0.2441	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67669	-0.5611	10	0.72032	D	0.01	.	16.5995	0.84807	0.0:0.0:1.0:0.0	.	45	Q9BTT6	LRRC1_HUMAN	P	45	ENSP00000359925:A45P;ENSP00000359919:A45P	ENSP00000359919:A45P	A	+	1	0	LRRC1	53768146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.658000	0.91110	2.225000	0.72522	0.563000	0.77884	GCC		0.667	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2		NM_025168		12	13	0	0	0	0.004007	0	12	13		
BMP5	653	broad.mit.edu	37	6	55739327	55739327	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:55739327T>C	ENST00000370830.3	-	1	1035	c.337A>G	c.(337-339)Aga>Gga	p.R113G	BMP5_ENST00000446683.2_Missense_Mutation_p.R113G	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	113					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATCCCTTTCTTGCCCCTCTG	0.522																																						uc003pcq.2		NaN																	0				ovary(2)	2						c.(337-339)AGA>GGA		bone morphogenetic protein 5 preproprotein							135.0	117.0	123.0					6																	55739327		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739327T>C		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.337A>G	6.37:g.55739327T>C	ENSP00000359866:p.Arg113Gly					BMP5_uc011dxf.1_Missense_Mutation_p.R113G	p.R113G	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	1049	-	Lung NSC(77;0.0462)		113					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.337A>G	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.291088	0.23564	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.73258	-0.73;-0.36	5.96	3.49	0.39957	Transforming growth factor-beta, N-terminal (1);	0.120713	0.56097	D	0.000029	T	0.25568	0.0622	N	0.01874	-0.695	0.43766	D	0.99628	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.03433	-1.1037	10	0.30078	T	0.28	.	13.8208	0.63320	0.0:0.0:0.4378:0.5622	.	113;113	B4E0Y4;P22003	.;BMP5_HUMAN	G	113	ENSP00000359866:R113G;ENSP00000391818:R113G	ENSP00000359866:R113G	R	-	1	2	BMP5	55847286	0.993000	0.37304	0.986000	0.45419	0.997000	0.91878	2.129000	0.42055	0.463000	0.27118	0.528000	0.53228	AGA		0.522	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1				21	92	0	0	0	0.012319	0	21	92		
RAB23	51715	broad.mit.edu	37	6	57075078	57075078	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:57075078A>C	ENST00000317483.3	-	2	720	c.101T>G	c.(100-102)tTt>tGt	p.F34C	RAB23_ENST00000468148.1_Missense_Mutation_p.F34C	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	34					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GTCTTTTGTAAAAATGCCTTT	0.373																																						uc003pds.2		NaN																	0				skin(1)	1						c.(100-102)TTT>TGT		Ras-related protein Rab-23							179.0	162.0	168.0					6																	57075078		2203	4300	6503	SO:0001583	missense	51715				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr6:57075078A>C	AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.101T>G	6.37:g.57075078A>C	ENSP00000320413:p.Phe34Cys					RAB23_uc003pdt.2_Missense_Mutation_p.F34C|RAB23_uc010kac.2_Missense_Mutation_p.F34C|RAB23_uc010kad.2_RNA	p.F34C	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		2	307	-	Lung NSC(77;0.121)		34					B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	ENST00000317483.3	37	c.101T>G	CCDS4962.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128501	0.77549	.	.	ENSG00000112210	ENST00000317483;ENST00000468148	D;D	0.87256	-2.23;-2.23	5.55	5.55	0.83447	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91143	0.7211	M	0.92077	3.27	0.80722	D	1	P	0.48998	0.918	P	0.49332	0.607	D	0.93231	0.6617	10	0.87932	D	0	-26.8676	15.692	0.77461	1.0:0.0:0.0:0.0	.	34	Q9ULC3	RAB23_HUMAN	C	34	ENSP00000320413:F34C;ENSP00000417610:F34C	ENSP00000320413:F34C	F	-	2	0	RAB23	57183037	1.000000	0.71417	0.999000	0.59377	0.599000	0.36880	9.335000	0.96500	2.104000	0.64026	0.533000	0.62120	TTT		0.373	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1				42	137	0	0	0	0.006999	0	42	137		
PRIM2	5558	broad.mit.edu	37	6	57183276	57183276	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:57183276G>A	ENST00000607273.1	+	2	120	c.33G>A	c.(31-33)ctG>ctA	p.L11L	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	11					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGAGGAAGCTGAGGTTGGCAG	0.403																																						uc003pdx.2		NaN																	0					0						c.(31-33)CTG>CTA		DNA primase polypeptide 2							55.0	53.0	54.0					6																	57183276		1869	4112	5981	SO:0001819	synonymous_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57183276G>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.33G>A	6.37:g.57183276G>A						PRIM2_uc003pdv.1_Silent_p.L11L|PRIM2_uc003pdw.2_Silent_p.L11L	p.L11L	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	2	120	+			11					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000607273.1	37	c.33G>A																																																																																					0.403	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_000947		9	16	0	0	0	0.006214	0	9	16		
COL19A1	1310	broad.mit.edu	37	6	70875842	70875842	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:70875842G>A	ENST00000322773.4	+	37	2512	c.2410G>A	c.(2410-2412)Gga>Aga	p.G804R	COL19A1_ENST00000393344.1_Missense_Mutation_p.G426R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	804	Collagen-like 8.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G804R(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGGCAGCGACGGACCCCCTGG	0.443																																						uc003pfc.1		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|breast(2)	4						c.(2410-2412)GGA>AGA		alpha 1 type XIX collagen precursor							89.0	97.0	94.0					6																	70875842		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70875842G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2410G>A	6.37:g.70875842G>A	ENSP00000316030:p.Gly804Arg					COL19A1_uc010kam.1_Missense_Mutation_p.G700R	p.G804R	NM_001858	NP_001849	Q14993	COJA1_HUMAN			37	2527	+			804			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2410G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810748	0.50421	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99353	-5.77;-5.77	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	H	0.98833	4.345	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.97247	0.9895	10	0.87932	D	0	.	18.5469	0.91050	0.0:0.0:1.0:0.0	.	804	Q14993	COJA1_HUMAN	R	804;426	ENSP00000316030:G804R;ENSP00000377013:G426R	ENSP00000316030:G804R	G	+	1	0	COL19A1	70932563	1.000000	0.71417	0.986000	0.45419	0.414000	0.31173	6.432000	0.73400	2.894000	0.99253	0.655000	0.94253	GGA		0.443	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1				28	171	0	0	0	0.007291	0	28	171		
COL9A1	1297	broad.mit.edu	37	6	70966509	70966509	+	Missense_Mutation	SNP	C	C	T	rs550014166	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:70966509C>T	ENST00000357250.6	-	21	1623	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	COL9A1_ENST00000370499.4_Missense_Mutation_p.D246N|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.D246N	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	489	Collagen-like 5.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGTTCACCATCTAAGCCCCGA	0.383																																						uc003pfg.3		NaN																	0				ovary(4)	4						c.(1465-1467)GAT>AAT		alpha 1 type IX collagen isoform 1 precursor							67.0	72.0	71.0					6																	70966509		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70966509C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1465G>A	6.37:g.70966509C>T	ENSP00000349790:p.Asp489Asn					COL9A1_uc003pfe.3_Missense_Mutation_p.D62N|COL9A1_uc003pff.3_Missense_Mutation_p.D246N	p.D489N	NM_001851	NP_001842	P20849	CO9A1_HUMAN			21	1624	-			489			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1465G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046029	0.75846	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93604	-3.25;-3.25;-3.25	5.82	5.82	0.92795	.	0.043995	0.85682	D	0.000000	D	0.93621	0.7963	L	0.45422	1.42	0.80722	D	1	D;D;D	0.89917	0.999;0.991;1.0	D;P;D	0.77004	0.972;0.894;0.989	D	0.90708	0.4625	10	0.16896	T	0.51	.	18.2796	0.90094	0.0:1.0:0.0:0.0	.	489;246;62	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	N	489;246;246	ENSP00000349790:D489N;ENSP00000315252:D246N;ENSP00000359530:D246N	ENSP00000315252:D246N	D	-	1	0	COL9A1	71023230	1.000000	0.71417	0.978000	0.43139	0.969000	0.65631	6.193000	0.72075	2.752000	0.94435	0.655000	0.94253	GAT		0.383	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2				3	33	0	0	0	0.009096	0	3	33		
RIMS1	22999	broad.mit.edu	37	6	72892790	72892790	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:72892790C>T	ENST00000521978.1	+	6	1616	c.1616C>T	c.(1615-1617)tCg>tTg	p.S539L	RIMS1_ENST00000520567.1_Missense_Mutation_p.S539L|RIMS1_ENST00000491071.2_Missense_Mutation_p.S539L|RIMS1_ENST00000348717.5_Missense_Mutation_p.S539L|RIMS1_ENST00000518273.1_Missense_Mutation_p.S539L|RIMS1_ENST00000264839.7_Missense_Mutation_p.S539L|RIMS1_ENST00000522291.1_Missense_Mutation_p.S539L|RIMS1_ENST00000517960.1_Missense_Mutation_p.S539L	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	539					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAGGGCGTGTCGACGCCCGAG	0.692																																						uc003pga.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(1615-1617)TCG>TTG		regulating synaptic membrane exocytosis 1							9.0	11.0	10.0					6																	72892790		2013	4154	6167	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72892790C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1616C>T	6.37:g.72892790C>T	ENSP00000428417:p.Ser539Leu					RIMS1_uc011dyb.1_Missense_Mutation_p.S165L|RIMS1_uc003pgc.2_Missense_Mutation_p.S165L|RIMS1_uc003pgb.3_Missense_Mutation_p.S165L	p.S539L	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			6	1693	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	539					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.1616C>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853790	0.71719	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.23147	1.92;2.02;1.96;2.03;2.02;2.03;2.03;1.98	4.05	4.05	0.47172	.	0.247009	0.28338	N	0.015707	T	0.16685	0.0401	M	0.67397	2.05	0.80722	D	1	B;B;P	0.36483	0.059;0.12;0.555	B;B;B	0.29785	0.022;0.043;0.107	T	0.14868	-1.0457	10	0.87932	D	0	0.3395	16.2092	0.82147	0.0:1.0:0.0:0.0	.	539;539;539	E9PHR1;C9JNW6;Q86UR5	.;.;RIMS1_HUMAN	L	539	ENSP00000430101:S539L;ENSP00000275037:S539L;ENSP00000264839:S539L;ENSP00000429959:S539L;ENSP00000430408:S539L;ENSP00000430502:S539L;ENSP00000430932:S539L;ENSP00000428417:S539L	ENSP00000264839:S539L	S	+	2	0	RIMS1	72949511	1.000000	0.71417	0.989000	0.46669	0.959000	0.62525	7.468000	0.80943	1.787000	0.52448	0.455000	0.32223	TCG		0.692	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1				3	3	0	0	0	0.004672	0	3	3		
RIMS1	22999	broad.mit.edu	37	6	72968754	72968754	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:72968754G>A	ENST00000521978.1	+	18	2993	c.2993G>A	c.(2992-2994)cGa>cAa	p.R998Q	RIMS1_ENST00000520567.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000401910.3_Missense_Mutation_p.R471Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.R472Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R998Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R391Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R997Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.R998Q|RIMS1_ENST00000264839.7_Missense_Mutation_p.R998Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.R457Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R997Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	998					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R998Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGCCTCCCGAAGTCCAGTT	0.353																																						uc003pga.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(2992-2994)CGA>CAA		regulating synaptic membrane exocytosis 1							127.0	126.0	127.0					6																	72968754		1918	4126	6044	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72968754G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2993G>A	6.37:g.72968754G>A	ENSP00000428417:p.Arg998Gln					RIMS1_uc011dyb.1_Missense_Mutation_p.R623Q|RIMS1_uc003pgc.2_Missense_Mutation_p.R624Q|RIMS1_uc010kaq.2_Missense_Mutation_p.R471Q|RIMS1_uc011dyc.1_Missense_Mutation_p.R472Q|RIMS1_uc010kar.2_Missense_Mutation_p.R391Q|RIMS1_uc011dyd.1_Missense_Mutation_p.R457Q|RIMS1_uc003pgf.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgg.2_Missense_Mutation_p.R215Q|RIMS1_uc003pgi.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgh.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgd.2_Missense_Mutation_p.R215Q|RIMS1_uc003pge.2_Missense_Mutation_p.R215Q|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.R624Q|RIMS1_uc010kas.1_Missense_Mutation_p.R457Q	p.R998Q	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			18	3070	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	998					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2993G>A	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.94|17.94	3.510692|3.510692	0.64522|0.64522	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.18338	.|2.44;2.73;2.65;2.73;2.71;2.65;2.57;2.59;2.7;2.67;2.74;2.53;2.73;2.22	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.52532	.|D	.|0.000071	T|T	0.27098|0.27098	0.0664|0.0664	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;D;D;P;P;P;B;P;D;B;D;P	.|0.89917	.|0.17;0.994;0.999;0.745;0.938;0.787;0.054;0.703;0.998;0.181;1.0;0.787	.|B;P;D;B;B;B;B;B;D;B;D;B	.|0.77557	.|0.005;0.885;0.99;0.061;0.166;0.09;0.002;0.07;0.945;0.056;0.99;0.099	T|T	0.00995|0.00995	-1.1487|-1.1487	5|10	.|0.49607	.|T	.|0.09	-4.9164|-4.9164	19.5526|19.5526	0.95328|0.95328	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|457;472;998;457;471;997;250;998;997;251;998;998	.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	K|Q	89|998;998;998;997;998;997;998;997;998;997;997;998;471;472;391;391;457;223	.|ENSP00000430101:R998Q;ENSP00000275037:R997Q;ENSP00000264839:R998Q;ENSP00000429959:R997Q;ENSP00000430408:R998Q;ENSP00000430502:R997Q;ENSP00000430932:R997Q;ENSP00000428417:R998Q;ENSP00000385649:R471Q;ENSP00000428328:R472Q;ENSP00000411235:R391Q;ENSP00000389503:R391Q;ENSP00000428367:R457Q;ENSP00000359448:R223Q	.|ENSP00000264839:R998Q	E|R	+|+	1|2	0|0	RIMS1|RIMS1	73025475|73025475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.818000|0.818000	0.46254|0.46254	5.368000|5.368000	0.66133|0.66133	2.701000|2.701000	0.92244|0.92244	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.353	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1				53	73	0	0	0	0.01441	0	53	73		
KCNQ5	56479	broad.mit.edu	37	6	73843259	73843259	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:73843259G>A	ENST00000370398.1	+	10	1472	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	KCNQ5_ENST00000402622.2_Missense_Mutation_p.E465K|KCNQ5_ENST00000342056.2_Missense_Mutation_p.E474K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E456K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E455K|KCNQ5_ENST00000414165.2_Intron|KCNQ5-AS1_ENST00000429832.1_RNA|KCNQ5_ENST00000403813.2_Missense_Mutation_p.E446K	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	455					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CATCACAGCCGAGGGCAGTCC	0.592																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(1363-1365)GAG>AAG		potassium voltage-gated channel, KQT-like							102.0	102.0	102.0					6																	73843259		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73843259G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1363G>A	6.37:g.73843259G>A	ENSP00000359425:p.Glu455Lys					KCNQ5_uc011dyh.1_Missense_Mutation_p.E474K|KCNQ5_uc011dyi.1_Missense_Mutation_p.E465K|KCNQ5_uc010kat.2_Missense_Mutation_p.E446K|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.E205K	p.E455K	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	10	1710	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	455					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1363G>A	CCDS4976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.356508|5.356508	0.95854|0.95854	.|.	.|.	ENSG00000185760|ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813|ENST00000427928	D;D;D;D;D;D|.	0.99660|.	-6.32;-6.32;-6.32;-6.32;-6.32;-6.32|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Potassium channel, voltage dependent, KCNQ, C-terminal (1);|.	0.268023|.	0.35838|.	N|.	0.002948|.	T|T	0.57607|0.57607	0.2065|0.2065	L|L	0.41492|0.41492	1.28|1.28	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.49783|.	0.928;0.588;0.753;0.793|.	B;B;B;B|.	0.36534|.	0.216;0.225;0.194;0.227|.	T|T	0.52518|0.52518	-0.8565|-0.8565	10|5	0.52906|.	T|.	0.07|.	.|.	18.1396|18.1396	0.89634|0.89634	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	465;474;446;455|.	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82|.	.;.;.;KCNQ5_HUMAN|.	K|Q	474;474;455;455;465;456;446|46	ENSP00000345055:E474K;ENSP00000347326:E455K;ENSP00000359425:E455K;ENSP00000385501:E465K;ENSP00000347853:E456K;ENSP00000384453:E446K|.	ENSP00000345055:E474K|.	E|R	+|+	1|2	0|0	KCNQ5|KCNQ5	73899980|73899980	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.979000|0.979000	0.70002|0.70002	7.582000|7.582000	0.82546|0.82546	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.592	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3		NM_019842		22	68	0	0	0	0.014323	0	22	68		
KCNQ5	56479	broad.mit.edu	37	6	73904551	73904551	+	Missense_Mutation	SNP	C	C	T	rs373955161		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:73904551C>T	ENST00000370398.1	+	14	2322	c.2213C>T	c.(2212-2214)aCg>aTg	p.T738M	KCNQ5_ENST00000402622.2_Missense_Mutation_p.T748M|KCNQ5_ENST00000342056.2_Missense_Mutation_p.T757M|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T739M|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T738M|KCNQ5_ENST00000414165.2_Missense_Mutation_p.T628M|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T729M	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	738					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CAAATAAATACGGCACCCAAG	0.532																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(2212-2214)ACG>ATG		potassium voltage-gated channel, KQT-like		T	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	101.0	99.0	99.0		2186,2243,2270,1883,2213	-5.4	0.0	6		99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_001160134.1,NM_019842.3	81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	729/924,748/943,757/952,628/823,738/933	73904551	1,13005	2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904551C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2213C>T	6.37:g.73904551C>T	ENSP00000359425:p.Thr738Met					KCNQ5_uc011dyh.1_Missense_Mutation_p.T757M|KCNQ5_uc011dyi.1_Missense_Mutation_p.T748M|KCNQ5_uc010kat.2_Missense_Mutation_p.T729M|KCNQ5_uc011dyj.1_Missense_Mutation_p.T628M|KCNQ5_uc011dyk.1_Missense_Mutation_p.T488M	p.T738M	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2560	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	738					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.2213C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	c	7.860	0.725758	0.15439	0.0	1.16E-4	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99369	-5.61;-5.61;-5.61;-5.61;-5.61;-5.64;-5.78	5.2	-5.39	0.02664	.	2.090220	0.01703	N	0.027311	D	0.90721	0.7088	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.48407	0.799;0.524;0.641;0.91;0.597	B;B;B;B;B	0.34722	0.188;0.091;0.136;0.188;0.136	D	0.94804	0.7973	10	0.36615	T	0.2	.	7.5192	0.27618	0.2139:0.1817:0.0:0.6044	.	628;748;757;729;738	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	M	757;757;738;738;748;739;729;628	ENSP00000345055:T757M;ENSP00000347326:T738M;ENSP00000359425:T738M;ENSP00000385501:T748M;ENSP00000347853:T739M;ENSP00000384453:T729M;ENSP00000409861:T628M	ENSP00000345055:T757M	T	+	2	0	KCNQ5	73961272	0.000000	0.05858	0.001000	0.08648	0.917000	0.54804	-0.255000	0.08769	-0.877000	0.04012	-0.215000	0.12644	ACG		0.532	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3		NM_019842		20	22	0	0	0	0.014323	0	20	22		
MB21D1	115004	broad.mit.edu	37	6	74150017	74150017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:74150017C>T	ENST00000370315.3	-	3	1123	c.1029G>A	c.(1027-1029)tgG>tgA	p.W343*	MB21D1_ENST00000370318.1_Nonsense_Mutation_p.W343*	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	343					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTGCTGAAAGCCAGTTTTGAA	0.393																																						uc003pgx.1		NaN																	0					0						c.(1027-1029)TGG>TGA		hypothetical protein LOC115004							113.0	110.0	111.0					6																	74150017		2203	4300	6503	SO:0001587	stop_gained	115004							g.chr6:74150017C>T	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1029G>A	6.37:g.74150017C>T	ENSP00000359339:p.Trp343*						p.W343*	NM_138441	NP_612450	Q8N884	M21D1_HUMAN			3	1168	-			343					L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Nonsense_Mutation	SNP	ENST00000370315.3	37	c.1029G>A	CCDS4978.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.358703	0.61403	.	.	ENSG00000164430	ENST00000370318;ENST00000370315;ENST00000296913	.	.	.	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.2792	16.6648	0.85249	0.0:1.0:0.0:0.0	.	.	.	.	X	343	.	ENSP00000296913:W343X	W	-	3	0	MB21D1	74206738	1.000000	0.71417	0.964000	0.40570	0.012000	0.07955	4.326000	0.59241	2.480000	0.83734	0.455000	0.32223	TGG		0.393	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5		NM_138441		49	93	0	0	0	0.01441	0	49	93		
CD109	135228	broad.mit.edu	37	6	74440088	74440088	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:74440088G>A	ENST00000287097.5	+	4	410	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CD109_ENST00000437994.2_Missense_Mutation_p.E100K|CD109_ENST00000422508.2_Intron			Q6YHK3	CD109_HUMAN	CD109 molecule	100					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGCAGATGAGATTTATGA	0.373																																						uc003php.2		NaN																	0				large_intestine(2)|ovary(2)	4						c.(298-300)GAG>AAG		CD109 antigen isoform 1 precursor							116.0	114.0	115.0					6																	74440088		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74440088G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.298G>A	6.37:g.74440088G>A	ENSP00000287097:p.Glu100Lys					CD109_uc010kaz.2_Missense_Mutation_p.E100K|CD109_uc003phq.2_Missense_Mutation_p.E100K|CD109_uc010kba.2_Intron	p.E100K	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			4	723	+			100					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.298G>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	0.199	-1.046787	0.01997	.	.	ENSG00000156535	ENST00000437994;ENST00000287097	T;T	0.22743	1.94;1.94	4.35	2.53	0.30540	.	1.071910	0.07203	N	0.857865	T	0.03739	0.0106	N	0.08118	0	0.19300	N	0.999974	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.003	T	0.44159	-0.9346	10	0.34782	T	0.22	.	8.9354	0.35697	0.1898:0.0:0.8102:0.0	.	100;100;100	Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	K	100	ENSP00000388062:E100K;ENSP00000287097:E100K	ENSP00000287097:E100K	E	+	1	0	CD109	74496809	0.544000	0.26441	0.019000	0.16419	0.004000	0.04260	3.589000	0.53972	0.560000	0.29169	-0.140000	0.14226	GAG		0.373	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3		NM_133493		30	135	0	0	0	0.008361	0	30	135		
SENP6	26054	broad.mit.edu	37	6	76425252	76425252	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:76425252C>G	ENST00000447266.2	+	24	3759	c.3281C>G	c.(3280-3282)tCa>tGa	p.S1094*	SENP6_ENST00000370010.2_Nonsense_Mutation_p.S1087*|SENP6_ENST00000370014.3_Nonsense_Mutation_p.S1094*|SENP6_ENST00000541192.1_3'UTR	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1094	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GACACTTACTCAACAGAAGCA	0.363																																						uc003pid.3		NaN																	0				breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6						c.(3280-3282)TCA>TGA		SUMO1/sentrin specific peptidase 6 isoform 1							144.0	133.0	137.0					6																	76425252		1879	4107	5986	SO:0001587	stop_gained	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76425252C>G		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.3281C>G	6.37:g.76425252C>G	ENSP00000402527:p.Ser1094*					SENP6_uc003pie.3_Nonsense_Mutation_p.S1087*|SENP6_uc010kbf.2_RNA	p.S1094*	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN			24	3900	+		all_hematologic(105;0.189)	1094			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Nonsense_Mutation	SNP	ENST00000447266.2	37	c.3281C>G	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	44	10.671088	0.99447	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	.	.	.	5.19	2.27	0.28462	.	0.425766	0.23288	N	0.049834	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-2.7301	8.0746	0.30710	0.0:0.678:0.1209:0.2011	.	.	.	.	X	1087;1094;1094	.	ENSP00000359027:S1087X	S	+	2	0	SENP6	76481972	0.002000	0.14202	0.002000	0.10522	0.079000	0.17450	1.443000	0.35057	0.629000	0.30376	0.460000	0.39030	TCA		0.363	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2		NM_015571		57	80	0	0	0	0.01441	0	57	80		
IMPG1	3617	broad.mit.edu	37	6	76657219	76657219	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:76657219C>T	ENST00000369950.3	-	14	2045	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCTTAAATCCTGTAAGATT	0.393																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1		NaN																	0				ovary(2)|skin(1)	3						c.(1855-1857)GGA>GAA		interphotoreceptor matrix proteoglycan 1							65.0	64.0	64.0					6																	76657219		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76657219C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1856G>A	6.37:g.76657219C>T	ENSP00000358966:p.Gly619Glu						p.G619E	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			14	1986	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	619			SEA 2.			Missense_Mutation	SNP	ENST00000369950.3	37	c.1856G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921939	0.92319	.	.	ENSG00000112706	ENST00000369950	T	0.40225	1.04	5.86	5.86	0.93980	SEA (2);	0.000000	0.64402	D	0.000011	T	0.63640	0.2528	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65504	-0.6152	10	0.72032	D	0.01	.	20.1996	0.98256	0.0:1.0:0.0:0.0	.	619	Q17R60	IMPG1_HUMAN	E	619	ENSP00000358966:G619E	ENSP00000358966:G619E	G	-	2	0	IMPG1	76713939	1.000000	0.71417	0.988000	0.46212	0.985000	0.73830	7.487000	0.81328	2.776000	0.95493	0.650000	0.86243	GGA		0.393	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1		NM_001563		10	22	0	0	0	0.008291	0	10	22		
LCA5	167691	broad.mit.edu	37	6	80228490	80228490	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:80228490G>A	ENST00000392959.1	-	3	733	c.122C>T	c.(121-123)tCt>tTt	p.S41F	LCA5_ENST00000369846.4_Missense_Mutation_p.S41F|LCA5_ENST00000467898.3_Missense_Mutation_p.S41F	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	41					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TGCAGGTGAAGAACTGACCAG	0.423																																						uc003pix.2		NaN																	0					0						c.(121-123)TCT>TTT		Leber congenital amaurosis 5							263.0	247.0	252.0					6																	80228490		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80228490G>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.122C>T	6.37:g.80228490G>A	ENSP00000376686:p.Ser41Phe					LCA5_uc003piy.2_Missense_Mutation_p.S41F|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.S41F	p.S41F	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	2	557	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	41					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.122C>T	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670505	0.29693	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.32272	1.46;1.46	5.18	0.193	0.15139	.	0.367955	0.25272	N	0.031870	T	0.07593	0.0191	L	0.36672	1.1	0.09310	N	1	B;B	0.27656	0.047;0.184	B;B	0.24701	0.038;0.055	T	0.21348	-1.0248	10	0.72032	D	0.01	11.0335	4.0939	0.09982	0.2983:0.0:0.4499:0.2518	.	41;41	B4DRL2;Q86VQ0	.;LCA5_HUMAN	F	41	ENSP00000358861:S41F;ENSP00000376686:S41F	ENSP00000358861:S41F	S	-	2	0	LCA5	80285209	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.605000	0.24179	0.064000	0.16427	0.655000	0.94253	TCT		0.423	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1		NM_181714		108	200	0	0	0	0.01441	0	108	200		
CYB5R4	51167	broad.mit.edu	37	6	84618805	84618805	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:84618805G>A	ENST00000369681.5	+	4	548	c.408G>A	c.(406-408)ctG>ctA	p.L136L	CYB5R4_ENST00000369679.4_Silent_p.L102L	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	136					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CTGCTGTTCTGAAAGGTAAGT	0.393																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	uc003pkf.2		NaN																	0				breast(2)	2						c.(406-408)CTG>CTA		cytochrome b5 reductase 4							127.0	112.0	117.0					6																	84618805		2203	4300	6503	SO:0001819	synonymous_variant	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84618805G>A	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.408G>A	6.37:g.84618805G>A							p.L136L	NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	4	540	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	136					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Silent	SNP	ENST00000369681.5	37	c.408G>A	CCDS5000.2																																																																																				0.393	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4		NM_016230		10	54	0	0	0	0.006214	0	10	54		
CEP162	22832	broad.mit.edu	37	6	84862559	84862559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:84862559G>A	ENST00000403245.3	-	23	3448	c.3334C>T	c.(3334-3336)Cag>Tag	p.Q1112*	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.Q1036*	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTGTCTTTCTGAAGCCTCTCC	0.403																																						uc010kbp.2		NaN																	0				ovary(1)	1						c.(3334-3336)CAG>TAG		KIAA1009 protein							89.0	91.0	90.0					6																	84862559		2203	4300	6503	SO:0001587	stop_gained	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84862559G>A																												ENST00000403245.3:c.3334C>T	6.37:g.84862559G>A	ENSP00000385215:p.Gln1112*					KIAA1009_uc003pkj.3_Nonsense_Mutation_p.Q1036*|KIAA1009_uc003pki.3_Nonsense_Mutation_p.Q498*	p.Q1112*	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	23	3431	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	1112			Potential.			Nonsense_Mutation	SNP	ENST00000403245.3	37	c.3334C>T	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	42	9.436308	0.99171	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	.	.	.	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-10.7456	18.593	0.91220	0.0:0.0:1.0:0.0	.	.	.	.	X	1036;1112	.	ENSP00000257766:Q1036X	Q	-	1	0	KIAA1009	84919278	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.891000	0.87319	2.471000	0.83476	0.460000	0.39030	CAG		0.403	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1				28	52	0	0	0	0.005443	0	28	52		
GABRR1	2569	broad.mit.edu	37	6	89888585	89888585	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:89888585C>G	ENST00000454853.2	-	10	1454	c.1344G>C	c.(1342-1344)atG>atC	p.M448I	GABRR1_ENST00000435811.1_Missense_Mutation_p.M431I|GABRR1_ENST00000369451.3_Missense_Mutation_p.M361I	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	448					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGTCGATTCTCATGCTCACAT	0.463																																						uc003pna.2		NaN																	0				pancreas(1)	1						c.(1342-1344)ATG>ATC		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						194.0	185.0	188.0					6																	89888585		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89888585C>G		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1344G>C	6.37:g.89888585C>G	ENSP00000412673:p.Met448Ile					GABRR1_uc011dzv.1_Missense_Mutation_p.M425I	p.M448I	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	10	1799	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	448			Cytoplasmic (Probable).		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.1344G>C	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	C	6.770	0.510920	0.12883	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.84800	-1.9;-1.9;-1.9	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.125616	0.64402	D	0.000001	T	0.57373	0.2049	N	0.03194	-0.395	0.42190	D	0.99172	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.58797	-0.7573	9	.	.	.	-36.678	19.7272	0.96168	0.0:1.0:0.0:0.0	.	431;448	P24046-2;P24046	.;GBRR1_HUMAN	I	448;431;361;361	ENSP00000412673:M448I;ENSP00000394687:M431I;ENSP00000358463:M361I	.	M	-	3	0	GABRR1	89945304	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.966000	0.49208	2.646000	0.89796	0.655000	0.94253	ATG		0.463	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2				44	173	0	0	0	0.01441	0	44	173		
MAP3K7	6885	broad.mit.edu	37	6	91257893	91257893	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:91257893G>A	ENST00000369329.3	-	10	1114	c.953C>T	c.(952-954)tCa>tTa	p.S318L	MAP3K7_ENST00000369325.3_Missense_Mutation_p.S318L|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369327.3_Missense_Mutation_p.S318L|MAP3K7_ENST00000369332.3_Missense_Mutation_p.S318L	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	318					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTCCATGAATGAGCCTAGGAA	0.343																																						uc003pnz.1		NaN																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6						c.(952-954)TCA>TTA		mitogen-activated protein kinase kinase kinase 7							110.0	106.0	107.0					6																	91257893		2203	4300	6503	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	g.chr6:91257893G>A	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.953C>T	6.37:g.91257893G>A	ENSP00000358335:p.Ser318Leu					MAP3K7_uc003poa.1_Missense_Mutation_p.S318L|MAP3K7_uc003pob.1_Missense_Mutation_p.S318L|MAP3K7_uc003poc.1_Missense_Mutation_p.S318L	p.S318L	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	10	1115	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	318					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.953C>T	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375494	0.82682	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.78246	-1.08;-1.16;-1.16;-1.08	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.77274	0.4106	N	0.24115	0.695	0.80722	D	1	D;P;P;B	0.71674	0.998;0.685;0.475;0.226	D;B;B;B	0.64877	0.93;0.292;0.113;0.039	T	0.76634	-0.2887	10	0.42905	T	0.14	.	20.3559	0.98840	0.0:0.0:1.0:0.0	.	318;318;318;318	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	L	318;318;318;318;245	ENSP00000358338:S318L;ENSP00000358335:S318L;ENSP00000358331:S318L;ENSP00000358333:S318L	ENSP00000358331:S318L	S	-	2	0	MAP3K7	91314614	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.881000	0.92415	2.890000	0.99128	0.585000	0.79938	TCA		0.343	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1		NM_145331		40	64	0	0	0	0.006999	0	40	64		
KLHL32	114792	broad.mit.edu	37	6	97587083	97587083	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:97587083C>T	ENST00000369261.4	+	11	2151	c.1788C>T	c.(1786-1788)ttC>ttT	p.F596F	KLHL32_ENST00000539200.1_Silent_p.F527F|KLHL32_ENST00000544166.1_Silent_p.F152F|KLHL32_ENST00000536676.1_Silent_p.F560F	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	596										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CAGCATGCTTCCTTCCAGCTC	0.448																																						uc010kcm.1		NaN																	0				ovary(3)|skin(1)	4						c.(1786-1788)TTC>TTT		kelch-like 32							224.0	182.0	196.0					6																	97587083		2203	4300	6503	SO:0001819	synonymous_variant	114792							g.chr6:97587083C>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1788C>T	6.37:g.97587083C>T						KLHL32_uc011ead.1_Silent_p.F560F|KLHL32_uc003poz.2_Silent_p.F152F|KLHL32_uc011eae.1_Silent_p.F527F|KLHL32_uc003ppa.2_RNA	p.F596F	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	11	2260	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	596			Kelch 6.		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.1788C>T	CCDS5038.1																																																																																				0.448	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1		NM_052904		38	153	0	0	0	0.004878	0	38	153		
MMS22L	253714	broad.mit.edu	37	6	97626329	97626329	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:97626329C>G	ENST00000275053.4	-	18	2934	c.2669G>C	c.(2668-2670)cGa>cCa	p.R890P	MMS22L_ENST00000369251.2_Missense_Mutation_p.R850P	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	890					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.R890Q(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTCAAAGAATCGAACAAGTGC	0.274																																						uc003ppb.2		NaN																	1	Substitution - Missense(1)		endometrium(1)		0						c.(2668-2670)CGA>CCA		hypothetical protein LOC253714							63.0	70.0	68.0					6																	97626329		2201	4287	6488	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97626329C>G		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2669G>C	6.37:g.97626329C>G	ENSP00000275053:p.Arg890Pro					C6orf167_uc011eaf.1_Missense_Mutation_p.R850P	p.R890P	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	18	2935	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	890					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.2669G>C	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	7.185	0.590373	0.13812	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.31769	1.48;1.48	5.87	-8.91	0.00778	.	1.162900	0.06164	N	0.676384	T	0.04952	0.0133	N	0.22421	0.69	0.09310	N	1	P;B	0.36712	0.566;0.201	B;B	0.32624	0.149;0.103	T	0.24657	-1.0154	10	0.40728	T	0.16	-20.4037	5.6604	0.17667	0.4065:0.2536:0.0:0.34	.	850;890	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	P	890;850	ENSP00000275053:R890P;ENSP00000358254:R850P	ENSP00000275053:R890P	R	-	2	0	MMS22L	97733050	0.001000	0.12720	0.007000	0.13788	0.124000	0.20399	-0.563000	0.05943	-1.102000	0.03023	-0.182000	0.12963	CGA		0.274	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3		NM_198468		16	117	0	0	0	0.00499	0	16	117		
CCNC	892	broad.mit.edu	37	6	99994315	99994315	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:99994315C>G	ENST00000520429.1	-	10	1079	c.634G>C	c.(634-636)Gat>Cat	p.D212H	CCNC_ENST00000523985.1_Missense_Mutation_p.D127H|CCNC_ENST00000523799.1_Missense_Mutation_p.D127H|CCNC_ENST00000518714.1_Missense_Mutation_p.D212H|CCNC_ENST00000520371.1_Missense_Mutation_p.D212H|CCNC_ENST00000369220.4_Missense_Mutation_p.D211H	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	212					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TGCCTGGCATCTTTCTGCTGT	0.358																																					GBM(57;273 1020 40094 44454 49348)	uc003pqe.2		NaN																	0					0						c.(634-636)GAT>CAT		cyclin C isoform a							106.0	103.0	104.0					6																	99994315		2203	4300	6503	SO:0001583	missense	892				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding	g.chr6:99994315C>G		CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.634G>C	6.37:g.99994315C>G	ENSP00000428982:p.Asp212His					uc003pqc.2_Intron|CCNC_uc003pqd.2_Missense_Mutation_p.D127H|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Missense_Mutation_p.D211H|CCNC_uc011eah.1_Missense_Mutation_p.D127H	p.D212H	NM_005190	NP_005181	P24863	CCNC_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.064)	10	921	-		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	212					B4DPZ1|Q9H543	Missense_Mutation	SNP	ENST00000520429.1	37	c.634G>C	CCDS34502.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097428	0.94197	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714;ENST00000524049	T;T;T;T;T;T;T;T	0.35236	1.77;1.77;1.77;1.32;1.35;1.32;1.77;1.37	5.93	5.93	0.95920	Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	M	0.87900	2.915	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.51385	0.668;0.668	T	0.58278	-0.7664	9	.	.	.	-12.2781	20.3465	0.98790	0.0:1.0:0.0:0.0	.	212;212	Q7Z4L3;P24863	.;CCNC_HUMAN	H	212;211;212;127;158;127;212;127	ENSP00000428982:D212H;ENSP00000358222:D211H;ENSP00000430381:D212H;ENSP00000430014:D127H;ENSP00000430077:D158H;ENSP00000430119:D127H;ENSP00000430294:D212H;ENSP00000427885:D127H	.	D	-	1	0	CCNC	100101036	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.775000	0.85489	2.798000	0.96311	0.655000	0.94253	GAT		0.358	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041613.2		NM_005190		17	102	0	0	0	0.008871	0	17	102		
ATG5	9474	broad.mit.edu	37	6	106649864	106649864	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:106649864G>A	ENST00000369076.3	-	7	997	c.674C>T	c.(673-675)tCt>tTt	p.S225F	ATG5_ENST00000360666.4_3'UTR|ATG5_ENST00000343245.3_Missense_Mutation_p.S225F|ATG5_ENST00000369070.1_Missense_Mutation_p.S147F|ATG5_ENST00000475645.1_5'UTR	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	225					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		ATCAATAGCAGAAGGACAAAC	0.378																																						uc003prf.2		NaN																	0				large_intestine(1)	1						c.(673-675)TCT>TTT		APG5 autophagy 5-like							106.0	100.0	102.0					6																	106649864		2203	4300	6503	SO:0001583	missense	9474				apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr6:106649864G>A	Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.674C>T	6.37:g.106649864G>A	ENSP00000358072:p.Ser225Phe					ATG5_uc010kdb.2_3'UTR|ATG5_uc003prg.2_Missense_Mutation_p.S147F|ATG5_uc010kdc.2_3'UTR	p.S225F	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)	7	1027	-	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	225					O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	ENST00000369076.3	37	c.674C>T	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963935	0.53507	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000369070	.	.	.	5.09	5.09	0.68999	.	0.306169	0.34879	N	0.003609	T	0.46521	0.1397	L	0.47190	1.495	0.80722	D	1	B;B	0.14438	0.001;0.01	B;B	0.19391	0.007;0.025	T	0.49744	-0.8907	9	0.54805	T	0.06	-0.4457	17.2828	0.87133	0.0:0.0:1.0:0.0	.	147;225	Q9H1Y0-2;Q9H1Y0	.;ATG5_HUMAN	F	225;225;147	.	ENSP00000343313:S225F	S	-	2	0	ATG5	106756557	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	5.638000	0.67861	2.366000	0.80165	0.561000	0.74099	TCT		0.378	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1		NM_004849		53	58	0	0	0	0.01441	0	53	58		
CEP57L1	285753	broad.mit.edu	37	6	109415101	109415101	+	5'Flank	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:109415101G>A	ENST00000517392.1	+	0	0				CEP57L1_ENST00000336977.4_5'Flank|CEP57L1_ENST00000368968.2_5'Flank|CEP57L1_ENST00000523787.1_5'Flank|CEP57L1_ENST00000368970.2_5'Flank|CEP57L1_ENST00000521522.1_5'Flank|CEP57L1_ENST00000520883.1_5'Flank|SESN1_ENST00000436639.2_Missense_Mutation_p.S59L|CEP57L1_ENST00000519095.1_5'Flank|CEP57L1_ENST00000407272.1_5'Flank|SESN1_ENST00000517548.1_5'UTR|CEP57L1_ENST00000521277.1_5'Flank	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1						microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						CAACCCATCCGAAGACTCGGT	0.423																																						uc003psu.2		NaN																	0				ovary(1)	1						c.(175-177)TCG>TTG		sestrin 1							148.0	135.0	139.0					6																	109415101		2203	4300	6503	SO:0001631	upstream_gene_variant	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109415101G>A	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336		6.37:g.109415101G>A	Exception_encountered					C6orf182_uc003psv.3_5'Flank|C6orf182_uc003psw.3_5'Flank|C6orf182_uc010kdk.2_5'Flank|C6orf182_uc003psx.3_5'Flank|C6orf182_uc010kdl.2_5'Flank	p.S59L	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	1	187	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	Error:Variant_position_missing_in_Q9Y6P5_after_alignment					G5E992	Missense_Mutation	SNP	ENST00000517392.1	37	c.176C>T	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	G	2.992	-0.207862	0.06180	.	.	ENSG00000080546	ENST00000436639	T	0.16743	2.32	5.93	-0.792	0.10925	.	1.182060	0.06170	N	0.677449	T	0.02418	0.0074	N	0.11427	0.14	0.25336	N	0.988994	B	0.02656	0.0	B	0.01281	0.0	T	0.45948	-0.9226	10	0.25106	T	0.35	-0.276	7.2717	0.26260	0.2707:0.3196:0.4096:0.0	.	59	Q9Y6P5-2	.	L	59	ENSP00000393762:S59L	ENSP00000393762:S59L	S	-	2	0	SESN1	109521794	0.083000	0.21467	0.091000	0.20842	0.416000	0.31233	0.257000	0.18369	-0.097000	0.12307	-0.302000	0.09304	TCG		0.423	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4		NM_173830		74	110	0	0	0	0.01441	0	74	110		
CD164	8763	broad.mit.edu	37	6	109700850	109700850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:109700850C>T	ENST00000310786.4	-	2	256	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	CD164_ENST00000413644.2_Missense_Mutation_p.R64Q|CD164_ENST00000504373.1_Missense_Mutation_p.R30Q|CD164_ENST00000512821.1_Missense_Mutation_p.R64Q|CD164_ENST00000275080.7_Missense_Mutation_p.R64Q|CD164_ENST00000368961.5_Missense_Mutation_p.R64Q|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000324953.5_Missense_Mutation_p.R64Q	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	64					cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GCAGCTGTTTCGACCTTCACA	0.358																																						uc003pte.2		NaN																	0					0						c.(190-192)CGA>CAA		CD164 molecule, sialomucin isoform 1							83.0	84.0	84.0					6																	109700850		2203	4300	6503	SO:0001583	missense	8763				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding	g.chr6:109700850C>T	AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"""CD molecules"""	1632	protein-coding gene	gene with protein product		603356	"""CD164 antigen, sialomucin"""			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.191G>A	6.37:g.109700850C>T	ENSP00000309376:p.Arg64Gln					CD164_uc003ptd.2_Missense_Mutation_p.R64Q|CD164_uc003ptf.2_Missense_Mutation_p.R64Q|CD164_uc011eap.1_Missense_Mutation_p.R64Q|CD164_uc010kdn.2_Missense_Mutation_p.R64Q	p.R64Q	NM_006016	NP_006007	Q04900	MUC24_HUMAN		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)	2	372	-		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)	64			Extracellular (Potential).		B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Missense_Mutation	SNP	ENST00000310786.4	37	c.191G>A	CCDS5073.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629144	0.46944	.	.	ENSG00000135535	ENST00000413644;ENST00000368961;ENST00000324953;ENST00000310786;ENST00000275080;ENST00000512821;ENST00000504373	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	3.95	-2.53	0.06326	.	1.885250	0.02892	N	0.134319	T	0.17577	0.0422	L	0.40543	1.245	0.09310	N	1	B;D;D;B;B	0.57899	0.128;0.979;0.981;0.06;0.128	B;P;B;B;B	0.46362	0.011;0.514;0.376;0.016;0.006	T	0.07520	-1.0768	10	0.56958	D	0.05	1.3381	3.2557	0.06831	0.2996:0.2487:0.0:0.4517	.	64;64;64;64;64	Q04900-5;Q04900-3;Q04900-4;Q04900;Q04900-2	.;.;.;MUC24_HUMAN;.	Q	64;64;64;64;64;64;30	ENSP00000402237:R64Q;ENSP00000357957:R64Q;ENSP00000314177:R64Q;ENSP00000309376:R64Q;ENSP00000275080:R64Q;ENSP00000427546:R64Q;ENSP00000422999:R30Q	ENSP00000275080:R64Q	R	-	2	0	CD164	109807543	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-0.517000	0.06275	-0.511000	0.06514	-0.218000	0.12543	CGA		0.358	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1		NM_006016		67	65	0	0	0	0.01441	0	67	65		
FAM26D	221301	broad.mit.edu	37	6	116879249	116879249	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:116879249G>A	ENST00000368596.3	+	2	864	c.820G>A	c.(820-822)Gat>Aat	p.D274N	FAM26D_ENST00000405399.1_Missense_Mutation_p.D131N|FAM26D_ENST00000416171.2_Missense_Mutation_p.D130N|FAM26D_ENST00000368597.2_Missense_Mutation_p.D88N			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	274					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		GGACTGGAAAGATATTTCAGT	0.453																																						uc003pxa.2		NaN																	0					0						c.(391-393)GAT>AAT		hypothetical protein LOC221301							134.0	133.0	133.0					6																	116879249		2203	4300	6503	SO:0001583	missense	221301					integral to membrane		g.chr6:116879249G>A	AK056801	CCDS5109.1, CCDS59032.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000164451	ENSG00000164451			21094	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 78"""	C6orf78			Standard	NM_153036		Approved	FLJ32239	uc010ked.4	Q5JW98	OTTHUMG00000015443	ENST00000368596.3:c.820G>A	6.37:g.116879249G>A	ENSP00000357585:p.Asp274Asn					FAM26D_uc003pwz.2_Missense_Mutation_p.D88N|FAM26D_uc010ked.2_Missense_Mutation_p.D130N	p.D131N	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)	4	690	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	274					B0QZ25|B0QZ27|B4DTQ0|Q96MK0	Missense_Mutation	SNP	ENST00000368596.3	37	c.391G>A		.	.	.	.	.	.	.	.	.	.	G	8.515	0.867427	0.17250	.	.	ENSG00000164451	ENST00000416171;ENST00000368597;ENST00000452373;ENST00000405399;ENST00000368596	T;T;T;T;T	0.44881	0.91;0.91;0.92;0.92;2.26	5.99	5.13	0.70059	.	0.974806	0.08438	N	0.945805	T	0.21921	0.0528	L	0.48642	1.525	0.09310	N	1	B;B	0.30361	0.277;0.277	B;B	0.32465	0.146;0.092	T	0.32214	-0.9915	10	0.41790	T	0.15	-13.268	10.2611	0.43427	0.1484:0.0:0.8516:0.0	.	130;274	B4DTQ0;Q5JW98	.;FA26D_HUMAN	N	130;88;88;131;274	ENSP00000416976:D130N;ENSP00000357586:D88N;ENSP00000409556:D88N;ENSP00000385836:D131N;ENSP00000357585:D274N	ENSP00000357585:D274N	D	+	1	0	FAM26D	116985942	0.898000	0.30612	0.174000	0.22961	0.137000	0.21094	2.546000	0.45778	1.549000	0.49425	0.655000	0.94253	GAT		0.453	FAM26D-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000041958.1		NM_153036		54	101	0	0	0	0.01441	0	54	101		
FAM162B	221303	broad.mit.edu	37	6	117086385	117086385	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:117086385G>A	ENST00000368557.4	-	2	352	c.206C>T	c.(205-207)cCt>cTt	p.P69L		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	69						integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						GAACTGCGAAGGCCTGCGCTG	0.627																																						uc003pxi.2		NaN																	0					0						c.(205-207)CCT>CTT		hypothetical protein LOC221303							51.0	57.0	55.0					6																	117086385		2170	4280	6450	SO:0001583	missense	221303					integral to membrane		g.chr6:117086385G>A	BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 189"""	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.206C>T	6.37:g.117086385G>A	ENSP00000357545:p.Pro69Leu						p.P69L	NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN			2	353	-			69					Q8IXW8	Missense_Mutation	SNP	ENST00000368557.4	37	c.206C>T	CCDS43497.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461616	0.26248	.	.	ENSG00000183807	ENST00000368557	T	0.48836	0.8	3.42	2.55	0.30701	.	0.062232	0.64402	N	0.000003	T	0.34542	0.0901	M	0.83118	2.625	0.58432	D	0.999999	B	0.24618	0.107	B	0.26202	0.067	T	0.42632	-0.9440	10	0.54805	T	0.06	-4.1075	9.3153	0.37930	0.1126:0.0:0.8874:0.0	.	69	Q5T6X4	F162B_HUMAN	L	69	ENSP00000357545:P69L	ENSP00000357545:P69L	P	-	2	0	FAM162B	117193078	1.000000	0.71417	0.712000	0.30502	0.131000	0.20780	3.150000	0.50662	1.014000	0.39417	0.561000	0.74099	CCT		0.627	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1		XM_927381		16	25	0	0	0	0.00499	0	16	25		
GPRC6A	222545	broad.mit.edu	37	6	117127788	117127788	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:117127788A>C	ENST00000310357.3	-	3	1101	c.1080T>G	c.(1078-1080)caT>caG	p.H360Q	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.H360Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	360					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGGCAGATAAATGCATGGCAT	0.398																																						uc003pxj.1		NaN																	0				ovary(4)|skin(2)	6						c.(1078-1080)CAT>CAG		G protein-coupled receptor, family C, group 6,							96.0	87.0	90.0					6																	117127788		2203	4299	6502	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117127788A>C	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1080T>G	6.37:g.117127788A>C	ENSP00000309493:p.His360Gln					GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.H360Q	p.H360Q	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	1102	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	360			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.1080T>G	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	A	5.438	0.265889	0.10294	.	.	ENSG00000173612	ENST00000310357;ENST00000368549	D;D	0.85773	-2.03;-2.03	5.18	0.526	0.17078	Extracellular ligand-binding receptor (1);	0.139815	0.32769	N	0.005674	T	0.44307	0.1287	N	0.04508	-0.205	0.80722	D	1	P;P	0.41546	0.728;0.754	B;B	0.40864	0.24;0.342	T	0.42965	-0.9420	10	0.12766	T	0.61	.	4.6598	0.12637	0.4371:0.3002:0.2627:0.0	.	360;360	Q5T6X5-3;Q5T6X5	.;GPC6A_HUMAN	Q	360	ENSP00000309493:H360Q;ENSP00000357537:H360Q	ENSP00000309493:H360Q	H	-	3	2	GPRC6A	117234481	0.998000	0.40836	0.875000	0.34327	0.421000	0.31385	0.427000	0.21379	-0.011000	0.14247	0.528000	0.53228	CAT		0.398	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2				26	101	0	0	0	0.003954	0	26	101		
MAN1A1	4121	broad.mit.edu	37	6	119669855	119669855	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:119669855C>T	ENST00000368468.3	-	2	817	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	MAN1A1_ENST00000368466.2_Missense_Mutation_p.E126K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	126					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCGTGGTTTTCGCGGATCCTG	0.692																																					Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(376-378)GAA>AAA		mannosidase, alpha, class 1A, member 1							46.0	50.0	49.0					6																	119669855		2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119669855C>T	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.376G>A	6.37:g.119669855C>T	ENSP00000357453:p.Glu126Lys					MAN1A1_uc010kei.1_Missense_Mutation_p.E126K	p.E126K	NM_005907	NP_005898	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	2	818	-		all_epithelial(87;0.173)	126			Lumenal (Potential).		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.376G>A	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047543	0.36085	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	T;T	0.76709	-0.6;-1.04	4.87	3.94	0.45596	.	0.107150	0.64402	D	0.000007	T	0.46092	0.1375	N	0.19112	0.55	0.31519	N	0.662581	B;B	0.21753	0.06;0.027	B;B	0.14578	0.01;0.011	T	0.27673	-1.0067	9	.	.	.	-14.461	14.2082	0.65748	0.0:0.8493:0.1507:0.0	.	126;126	Q6P052;P33908	.;MA1A1_HUMAN	K	126	ENSP00000357453:E126K;ENSP00000357451:E126K	.	E	-	1	0	MAN1A1	119711554	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.871000	0.48459	2.251000	0.74343	0.455000	0.32223	GAA		0.692	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1		NM_005907		24	41	0	0	0	0.00333	0	24	41		
NCOA7	135112	broad.mit.edu	37	6	126203598	126203598	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:126203598G>A	ENST00000368357.3	+	8	952	c.600G>A	c.(598-600)ttG>ttA	p.L200L	NCOA7_ENST00000229634.9_Silent_p.L96L|NCOA7_ENST00000392477.2_Silent_p.L200L	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	200					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAAAGGCCTTGAAACCCATTG	0.358																																						uc010kes.2		NaN																	0				lung(2)|ovary(1)	3						c.(598-600)TTG>TTA		nuclear receptor coactivator 7 isoform 1							59.0	56.0	57.0					6																	126203598		2203	4300	6503	SO:0001819	synonymous_variant	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126203598G>A	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.600G>A	6.37:g.126203598G>A						NCOA7_uc003qae.3_Silent_p.L200L|NCOA7_uc003qah.2_Silent_p.L200L|NCOA7_uc003qai.2_Silent_p.L200L|NCOA7_uc010ket.2_Silent_p.L96L|NCOA7_uc003qaf.2_Silent_p.L200L|NCOA7_uc003qag.2_Silent_p.L200L	p.L200L	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	9	1049	+			200					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Silent	SNP	ENST00000368357.3	37	c.600G>A	CCDS5132.1																																																																																				0.358	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4		XM_059748		18	38	0	0	0	0.006122	0	18	38		
LAMA2	3908	broad.mit.edu	37	6	129796544	129796544	+	Silent	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:129796544A>C	ENST00000421865.2	+	53	7498	c.7449A>C	c.(7447-7449)gcA>gcC	p.A2483A		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2483	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTATGAAAGCAAGGTAAAATT	0.318																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(7447-7449)GCA>GCC		laminin alpha 2 subunit isoform a precursor							64.0	63.0	63.0					6																	129796544		2203	4299	6502	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129796544A>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7449A>C	6.37:g.129796544A>C						LAMA2_uc003qbo.2_Intron	p.A2483A	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	52	7554	+			2483			Laminin G-like 2.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.7449A>C	CCDS5138.1																																																																																				0.318	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				10	33	0	0	0	0.008291	0	10	33		
L3MBTL3	84456	broad.mit.edu	37	6	130376350	130376350	+	Missense_Mutation	SNP	C	C	T	rs200526729		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:130376350C>T	ENST00000529410.1	+	10	1096	c.617C>T	c.(616-618)tCg>tTg	p.S206L	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S206L|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S181L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S181L|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S181L|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S206L			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	206					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTGAGGGGTTCGCAGAGAGCA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		15726	0.001		0.0	False		,,,				2504	0.0					uc003qbt.2		NaN																	0				ovary(5)|skin(1)	6						c.(616-618)TCG>TTG		l(3)mbt-like 3 isoform a							97.0	102.0	100.0					6																	130376350		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130376350C>T	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.617C>T	6.37:g.130376350C>T	ENSP00000431962:p.Ser206Leu					L3MBTL3_uc003qbu.2_Missense_Mutation_p.S181L	p.S206L	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	8	787	+			206					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.617C>T	CCDS34537.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	26.9	4.786450	0.90367	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.15017	2.46;2.47;2.46;2.47;2.47;2.46	5.39	5.39	0.77823	.	0.260360	0.38778	N	0.001570	T	0.12305	0.0299	N	0.22421	0.69	0.41062	D	0.985382	D;P	0.67145	0.996;0.622	P;B	0.53689	0.732;0.043	T	0.09751	-1.0660	10	0.23891	T	0.37	.	17.346	0.87309	0.0:1.0:0.0:0.0	.	181;206	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	L	206;181;206;181;181;206	ENSP00000431962:S206L;ENSP00000437185:S181L;ENSP00000354526:S206L;ENSP00000357121:S181L;ENSP00000436706:S181L;ENSP00000357118:S206L	ENSP00000354526:S206L	S	+	2	0	L3MBTL3	130418043	0.996000	0.38824	0.983000	0.44433	0.977000	0.68977	4.688000	0.61715	2.703000	0.92315	0.447000	0.29281	TCG		0.383	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2		XM_027074		7	64	0	0	0	0.006214	0	7	64		
BCLAF1	9774	broad.mit.edu	37	6	136596991	136596991	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:136596991C>T	ENST00000531224.1	-	5	1924	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	BCLAF1_ENST00000530767.1_Missense_Mutation_p.D385N|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D556N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D558N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D556N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D556N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	558					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTGTTAGAATCATCAAGAGGA	0.383																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NaN																	0				ovary(1)	1						c.(1672-1674)GAT>AAT		BCL2-associated transcription factor 1 isoform							115.0	114.0	114.0					6																	136596991		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136596991C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1672G>A	6.37:g.136596991C>T	ENSP00000435210:p.Asp558Asn					BCLAF1_uc003qgw.1_Missense_Mutation_p.D385N|BCLAF1_uc003qgy.1_Missense_Mutation_p.D556N|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.D556N	p.D558N	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1925	-	Colorectal(23;0.24)		558					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1672G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133763	0.37630	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	T	0.14056	0.0340	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.69078	0.978;0.997;0.978;0.996	D;D;D;D	0.73708	0.962;0.981;0.962;0.981	T	0.01130	-1.1442	10	0.02654	T	1	-11.4803	20.0601	0.97671	0.0:1.0:0.0:0.0	.	556;556;558;385	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	N	558;556;558;385;556;556;558	ENSP00000435210:D558N;ENSP00000229446:D556N;ENSP00000435441:D558N;ENSP00000436501:D385N;ENSP00000434826:D556N;ENSP00000376159:D556N;ENSP00000431734:D558N	ENSP00000229446:D556N	D	-	1	0	BCLAF1	136638684	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.538000	0.60650	2.747000	0.94245	0.460000	0.39030	GAT		0.383	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2		NM_014739		71	169	0	0	0	0.01441	0	71	169		
MAP3K5	4217	broad.mit.edu	37	6	137017141	137017141	+	Missense_Mutation	SNP	C	C	G	rs371052306		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:137017141C>G	ENST00000359015.4	-	6	1390	c.1030G>C	c.(1030-1032)Gat>Cat	p.D344H		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	344					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAGGCCAAATCAAAGGTTGGC	0.358																																						uc003qhc.2		NaN																	0				ovary(2)|skin(2)|lung(1)	5						c.(1030-1032)GAT>CAT		mitogen-activated protein kinase kinase kinase							158.0	148.0	151.0					6																	137017141		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:137017141C>G	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1030G>C	6.37:g.137017141C>G	ENSP00000351908:p.Asp344His					MAP3K5_uc011edk.1_Missense_Mutation_p.D189H|MAP3K5_uc010kgw.1_Missense_Mutation_p.D344H	p.D344H	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	6	1391	-	Colorectal(23;0.24)		344					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.1030G>C	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245205	0.80024	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.10099	2.91	5.98	5.98	0.97165	.	0.045255	0.85682	D	0.000000	T	0.24084	0.0583	M	0.74258	2.255	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.73708	0.981;0.966;0.928	T	0.00244	-1.1883	10	0.59425	D	0.04	.	13.6272	0.62173	0.0:0.9295:0.0:0.0705	.	424;189;344	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	H	344;424	ENSP00000351908:D344H	ENSP00000351908:D344H	D	-	1	0	MAP3K5	137058834	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.782000	0.68973	2.838000	0.97847	0.591000	0.81541	GAT		0.358	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1				37	65	0	0	0	0.007835	0	37	65		
CCDC28A	25901	broad.mit.edu	37	6	139094917	139094917	+	Missense_Mutation	SNP	G	G	A	rs34991012	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:139094917G>A	ENST00000332797.6	+	1	261	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	36										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TAAACAAACGGAGCTGCGGAG	0.657																																						uc003qie.2		NaN																	0					0						c.(106-108)GAG>AAG		coiled-coil domain containing 28A							89.0	107.0	101.0					6																	139094917		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139094917G>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.106G>A	6.37:g.139094917G>A	ENSP00000332716:p.Glu36Lys					uc003qid.1_5'Flank	p.E36K	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	1	261	+			36					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.106G>A	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	G	0.840	-0.742151	0.03088	.	.	ENSG00000024862	ENST00000332797	T	0.27557	1.66	5.1	1.28	0.21552	.	63.809100	0.00166	N	0.000000	T	0.05823	0.0152	N	0.22421	0.69	0.09310	N	1	B	0.19817	0.039	B	0.19391	0.025	T	0.14643	-1.0465	10	0.10377	T	0.69	1.2285	3.7062	0.08401	0.0815:0.1435:0.4786:0.2964	.	36	Q8IWP9	CC28A_HUMAN	K	36	ENSP00000332716:E36K	ENSP00000332716:E36K	E	+	1	0	CCDC28A	139136610	0.000000	0.05858	0.130000	0.21974	0.010000	0.07245	-0.134000	0.10436	0.340000	0.23745	-2.404000	0.00223	GAG		0.657	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1		NM_015439		29	138	0	0	0	0.003271	0	29	138		
CCDC28A	25901	broad.mit.edu	37	6	139094928	139094928	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:139094928G>A	ENST00000332797.6	+	1	272	c.117G>A	c.(115-117)agG>agA	p.R39R		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	39										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AGCTGCGGAGGAGCGGGTCCC	0.647																																						uc003qie.2		NaN																	0					0						c.(115-117)AGG>AGA		coiled-coil domain containing 28A							86.0	106.0	99.0					6																	139094928		2203	4300	6503	SO:0001819	synonymous_variant	25901							g.chr6:139094928G>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.117G>A	6.37:g.139094928G>A						uc003qid.1_5'Flank	p.R39R	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	1	272	+			39					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Silent	SNP	ENST00000332797.6	37	c.117G>A	CCDS5192.1																																																																																				0.647	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1		NM_015439		23	131	0	0	0	0.009535	0	23	131		
CITED2	10370	broad.mit.edu	37	6	139694349	139694349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:139694349C>T	ENST00000367651.2	-	2	948	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	CITED2_ENST00000536159.1_Missense_Mutation_p.E245K|CITED2_ENST00000537332.1_Missense_Mutation_p.E245K	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	245	Asp/Glu-rich (acidic).				adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		AGCCAGAGTTCGGGCAGCTCC	0.512																																					NSCLC(98;1219 1550 33720 43229 49330)	uc003qip.1		NaN																	0					0						c.(733-735)GAA>AAA		Cbp/p300-interacting transactivator, with							72.0	75.0	74.0					6																	139694349		2203	4300	6503	SO:0001583	missense	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139694349C>T	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.733G>A	6.37:g.139694349C>T	ENSP00000356623:p.Glu245Lys						p.E245K	NM_006079	NP_006070	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	977	-	Breast(32;0.226)		245	Missing: Inhibits transactivation activity.		Asp/Glu-rich (acidic).		O95426|Q5VTF4	Missense_Mutation	SNP	ENST00000367651.2	37	c.733G>A	CCDS5195.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399152	0.83120	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.79352	-1.26;-1.26;-1.26	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.82522	0.5055	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79822	-0.1641	9	.	.	.	-2.0114	19.7705	0.96361	0.0:1.0:0.0:0.0	.	245	Q99967	CITE2_HUMAN	K	245;245;245;189	ENSP00000356623:E245K;ENSP00000442831:E245K;ENSP00000444198:E245K	.	E	-	1	0	CITED2	139736042	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.416000	0.80143	2.669000	0.90835	0.655000	0.94253	GAA		0.512	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1				36	121	0	0	0	0.003755	0	36	121		
UTRN	7402	broad.mit.edu	37	6	144759888	144759888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:144759888G>A	ENST00000367545.3	+	11	1249	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	417	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGCTGCACGATGTGCTGAT	0.517																																						uc003qkt.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(1249-1251)GAT>AAT		utrophin							101.0	93.0	96.0					6																	144759888		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144759888G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1249G>A	6.37:g.144759888G>A	ENSP00000356515:p.Asp417Asn					UTRN_uc010khq.1_Missense_Mutation_p.D417N	p.D417N	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	11	1341	+		Ovarian(120;0.218)	417			Interaction with SYNM.|Spectrin 2.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1249G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322645	0.81580	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.53640	0.61	5.41	4.53	0.55603	.	0.000000	0.53938	D	0.000043	T	0.42086	0.1187	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	P	0.62184	0.899	T	0.49698	-0.8912	10	0.54805	T	0.06	.	16.2489	0.82472	0.0:0.1328:0.8672:0.0	.	417	P46939	UTRO_HUMAN	N	417	ENSP00000356515:D417N	ENSP00000356499:D417N	D	+	1	0	UTRN	144801581	1.000000	0.71417	0.495000	0.27527	0.870000	0.49936	9.869000	0.99810	1.258000	0.44101	0.650000	0.86243	GAT		0.517	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				30	79	0	0	0	0.009535	0	30	79		
UTRN	7402	broad.mit.edu	37	6	144820495	144820495	+	Missense_Mutation	SNP	G	G	A	rs142782123		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:144820495G>A	ENST00000367545.3	+	33	4696	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1566	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TACTGAAACTGAATTGGTACA	0.448																																						uc003qkt.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(4696-4698)GAA>AAA		utrophin		G	LYS/GLU	0,4406		0,0,2203	99.0	84.0	89.0		4696	5.8	0.1	6	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UTRN	NM_007124.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1566/3434	144820495	1,13005	2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144820495G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4696G>A	6.37:g.144820495G>A	ENSP00000356515:p.Glu1566Lys						p.E1566K	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	33	4788	+		Ovarian(120;0.218)	1566			Interaction with SYNM.|Spectrin 11.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.4696G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525970	0.64860	0.0	1.16E-4	ENSG00000152818	ENST00000367545	T	0.50277	0.75	5.79	5.79	0.91817	.	0.000000	0.52532	D	0.000062	T	0.49457	0.1558	M	0.71581	2.175	0.80722	D	1	P	0.38223	0.623	B	0.43386	0.418	T	0.54397	-0.8300	10	0.66056	D	0.02	.	20.0371	0.97565	0.0:0.0:1.0:0.0	.	1566	P46939	UTRO_HUMAN	K	1566	ENSP00000356515:E1566K	ENSP00000356515:E1566K	E	+	1	0	UTRN	144862188	1.000000	0.71417	0.089000	0.20774	0.173000	0.22820	4.373000	0.59537	2.734000	0.93682	0.655000	0.94253	GAA		0.448	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				26	41	0	0	0	0.003954	0	26	41		
UTRN	7402	broad.mit.edu	37	6	145160371	145160371	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:145160371G>A	ENST00000367545.3	+	71	10128	c.10128G>A	c.(10126-10128)ctG>ctA	p.L3376L	UTRN_ENST00000367526.4_Silent_p.L931L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3376					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTCTGCACTGAGCTACTCGC	0.537																																						uc003qkt.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(10126-10128)CTG>CTA		utrophin							123.0	109.0	114.0					6																	145160371		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145160371G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.10128G>A	6.37:g.145160371G>A							p.L3376L	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	71	10220	+		Ovarian(120;0.218)	3376					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.10128G>A	CCDS34547.1																																																																																				0.537	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				28	60	0	0	0	0.008361	0	28	60		
SASH1	23328	broad.mit.edu	37	6	148855934	148855934	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:148855934C>G	ENST00000367467.3	+	16	2467	c.1992C>G	c.(1990-1992)acC>acG	p.T664T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	664	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATTTGGACACCTTTAAGCTGC	0.488																																						uc003qme.1		NaN																	0				central_nervous_system(1)	1						c.(1990-1992)ACC>ACG		SAM and SH3 domain containing 1							137.0	129.0	132.0					6																	148855934		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148855934C>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1992C>G	6.37:g.148855934C>G						SASH1_uc011eeb.1_Silent_p.T425T|SASH1_uc003qmf.1_Silent_p.T74T	p.T664T	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	16	2467	+		Ovarian(120;0.0169)	664			SAM 1.		Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.1992C>G	CCDS5212.1																																																																																				0.488	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1		NM_015278		71	86	0	0	0	0.01441	0	71	86		
TAB2	23118	broad.mit.edu	37	6	149700055	149700055	+	Missense_Mutation	SNP	G	G	C	rs1053435		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:149700055G>C	ENST00000367456.1	+	4	1581	c.1004G>C	c.(1003-1005)aGa>aCa	p.R335T	TAB2_ENST00000538427.1_Missense_Mutation_p.R335T|TAB2_ENST00000536230.1_Missense_Mutation_p.R303T|TAB2_ENST00000286332.5_Missense_Mutation_p.R335T|TAB2_ENST00000392282.1_Missense_Mutation_p.R335T			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	335					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCCCCACAAAGAAATAATTCT	0.418																																						uc003qmj.2		NaN																	0					0						c.(1003-1005)AGA>ACA		mitogen-activated protein kinase kinase kinase 7							64.0	66.0	65.0					6																	149700055		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149700055G>C	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1004G>C	6.37:g.149700055G>C	ENSP00000356426:p.Arg335Thr					TAB2_uc011eec.1_Missense_Mutation_p.R303T|TAB2_uc010kia.1_Missense_Mutation_p.R335T|TAB2_uc010kib.1_Missense_Mutation_p.R335T|TAB2_uc003qmk.3_RNA	p.R335T	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			3	1182	+			335					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.1004G>C	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889427	0.52014	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.78707	-1.2;-1.16;-1.17;-1.17;-1.17	6.07	6.07	0.98685	.	0.040634	0.85682	D	0.000000	T	0.80486	0.4632	L	0.36672	1.1	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.74743	-0.3562	10	0.27082	T	0.32	-7.5411	20.6525	0.99598	0.0:0.0:1.0:0.0	.	303;335	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	T	303;335;335;335;335	ENSP00000443206:R303T;ENSP00000376106:R335T;ENSP00000445752:R335T;ENSP00000356426:R335T;ENSP00000286332:R335T	ENSP00000286332:R335T	R	+	2	0	TAB2	149741748	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	9.230000	0.95299	2.890000	0.99128	0.585000	0.79938	AGA		0.418	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3				31	48	0	0	0	0.012213	0	31	48		
RMND1	55005	broad.mit.edu	37	6	151754317	151754318	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:151754317_151754318CC>AA	ENST00000367303.4	-	4	783_784	c.661_662GG>TT	c.(661-663)GGt>TTt	p.G221F	RMND1_ENST00000336451.3_Missense_Mutation_p.G10F	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	221					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TCCAGGATCACCTTCTTTTGCA	0.381																																						uc003qoi.2		NaN																	0					0						c.(661-663)GGT>TTT		required for meiotic nuclear division 1 homolog																																				SO:0001583	missense	55005							g.chr6:151754317_151754318CC>AA	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.661_662delinsAA	6.37:g.151754317_151754318delinsAA	ENSP00000356272:p.Gly221Phe					RMND1_uc011eeq.1_Missense_Mutation_p.G10F	p.G221F	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	4	841_842	-		Ovarian(120;0.125)	221					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	DNP	ENST00000367303.4	37	c.661_662GG>TT	CCDS5232.1																																																																																				0.381	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2		NM_017909		13	58	0	0	0	0.004672	0	13	58		
SYNE1	23345	broad.mit.edu	37	6	152831425	152831425	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:152831425C>T	ENST00000367255.5	-	8	1085	c.484G>A	c.(484-486)Gag>Aag	p.E162K	SYNE1_ENST00000367248.3_Missense_Mutation_p.E169K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E169K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E162K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E162K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E162K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E169K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E162K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E162K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	162	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGGGAGTCTCAGAGCTAACT	0.498										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(484-486)GAG>AAG		spectrin repeat containing, nuclear envelope 1							173.0	151.0	158.0					6																	152831425		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152831425C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.484G>A	6.37:g.152831425C>T	ENSP00000356224:p.Glu162Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E169K|SYNE1_uc003qou.3_Missense_Mutation_p.E162K|SYNE1_uc010kjb.1_Missense_Mutation_p.E162K|SYNE1_uc003qpa.1_Missense_Mutation_p.E162K	p.E162K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	8	1086	-		Ovarian(120;0.0955)	162			Actin-binding.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.484G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450565	0.43531	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.91521	0.52;0.53;0.42;0.53;0.65;-2.23;-2.38;-2.36;-2.65;-2.86	5.52	5.52	0.82312	Calponin homology domain (1);	0.103465	0.42964	D	0.000625	D	0.93919	0.8054	M	0.62154	1.92	0.80722	D	1	D;D;B;P;P	0.71674	0.998;0.959;0.373;0.929;0.918	D;P;B;P;P	0.77557	0.99;0.647;0.133;0.494;0.618	D	0.93220	0.6608	10	0.49607	T	0.09	.	19.4369	0.94799	0.0:1.0:0.0:0.0	.	162;162;162;162;169	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	162;169;162;169;162;162;169;162;162;162	ENSP00000356224:E162K;ENSP00000396024:E169K;ENSP00000265368:E162K;ENSP00000390975:E169K;ENSP00000341887:E162K;ENSP00000356222:E162K;ENSP00000356217:E169K;ENSP00000414510:E162K;ENSP00000446021:E162K;ENSP00000441264:E162K	ENSP00000265368:E162K	E	-	1	0	SYNE1	152873118	1.000000	0.71417	0.937000	0.37676	0.626000	0.37791	4.786000	0.62425	2.595000	0.87683	0.637000	0.83480	GAG		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		63	84	0	0	0	0.01441	0	63	84		
SCAF8	22828	broad.mit.edu	37	6	155129288	155129288	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:155129288C>T	ENST00000367178.3	+	10	1642	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F	SCAF8_ENST00000367186.4_Missense_Mutation_p.L422F|SCAF8_ENST00000417268.1_Missense_Mutation_p.L356F	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	356	Gln-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GCAGCATTTTCTTGAACCTGA	0.388																																						uc003qqa.2		NaN																	0					0						c.(1066-1068)CTT>TTT		RNA-binding motif protein 16							166.0	153.0	158.0					6																	155129288		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155129288C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1066C>T	6.37:g.155129288C>T	ENSP00000356146:p.Leu356Phe					RBM16_uc011efj.1_Missense_Mutation_p.L422F|RBM16_uc011efk.1_Missense_Mutation_p.L401F|RBM16_uc003qpz.2_Missense_Mutation_p.L356F|RBM16_uc010kji.2_Missense_Mutation_p.L377F	p.L356F	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	11	1298	+		Ovarian(120;0.196)	356			Gln-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.1066C>T	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266618	0.59540	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.05925	3.37;3.37;3.37	5.88	5.01	0.66863	.	0.169534	0.36268	U	0.002696	T	0.04952	0.0133	L	0.51422	1.61	0.46044	D	0.998833	D;D;P;D	0.61080	0.989;0.989;0.956;0.989	P;P;P;P	0.55087	0.768;0.768;0.462;0.768	T	0.41448	-0.9508	10	0.09843	T	0.71	.	9.6642	0.39974	0.0:0.8031:0.0:0.1969	.	401;422;434;356	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	F	356;356;422	ENSP00000356146:L356F;ENSP00000413098:L356F;ENSP00000356154:L422F	ENSP00000356146:L356F	L	+	1	0	SCAF8	155170980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.431000	0.59915	1.497000	0.48584	0.655000	0.94253	CTT		0.388	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1		NM_014892		25	98	0	0	0	0.003954	0	25	98		
SCAF8	22828	broad.mit.edu	37	6	155143463	155143463	+	Nonsense_Mutation	SNP	C	C	T	rs374113042		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:155143463C>T	ENST00000367178.3	+	16	2422	c.1846C>T	c.(1846-1848)Cag>Tag	p.Q616*	RNU6-824P_ENST00000363724.1_RNA|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.Q682*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.Q616*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	616					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCAGACAACTCAGAGCCCAAC	0.448																																						uc003qqa.2		NaN																	0					0						c.(1846-1848)CAG>TAG		RNA-binding motif protein 16							133.0	131.0	132.0					6																	155143463		2203	4300	6503	SO:0001587	stop_gained	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155143463C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1846C>T	6.37:g.155143463C>T	ENSP00000356146:p.Gln616*					RBM16_uc011efj.1_Nonsense_Mutation_p.Q682*|RBM16_uc011efk.1_Nonsense_Mutation_p.Q661*|RBM16_uc003qpz.2_Nonsense_Mutation_p.Q616*|RBM16_uc010kji.2_Nonsense_Mutation_p.Q637*	p.Q616*	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	17	2078	+		Ovarian(120;0.196)	616					B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Nonsense_Mutation	SNP	ENST00000367178.3	37	c.1846C>T	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	39	7.587079	0.98374	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	.	.	.	5.8	4.89	0.63831	.	0.612183	0.16166	U	0.226510	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	18.5058	0.90897	0.0:0.8728:0.1272:0.0	.	.	.	.	X	616;616;682	.	ENSP00000356146:Q616X	Q	+	1	0	SCAF8	155185155	0.998000	0.40836	1.000000	0.80357	0.953000	0.61014	3.164000	0.50770	2.745000	0.94114	0.650000	0.86243	CAG		0.448	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1		NM_014892		62	120	0	0	0	0.01441	0	62	120		
TULP4	56995	broad.mit.edu	37	6	158924726	158924726	+	Missense_Mutation	SNP	G	G	A	rs374181619		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:158924726G>A	ENST00000367097.3	+	13	5388	c.4031G>A	c.(4030-4032)cGa>cAa	p.R1344Q	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1344					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTGGACAGCCGAGCAGAAGAA	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		16647	0.0		0.0	False		,,,				2504	0.001					uc003qrf.2		NaN																	0				ovary(1)	1						c.(4030-4032)CGA>CAA		tubby like protein 4 isoform 1		G	,GLN/ARG	0,4406		0,0,2203	51.0	50.0	51.0		,4031	5.7	0.8	6		51	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	TULP4	NM_001007466.1,NM_020245.3	,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,1344/1544	158924726	1,13005	2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158924726G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.4031G>A	6.37:g.158924726G>A	ENSP00000356064:p.Arg1344Gln					TULP4_uc003qrg.2_Intron	p.R1344Q	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	5388	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1344					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.4031G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885633	0.91814	0.0	1.16E-4	ENSG00000130338	ENST00000367097	T	0.71698	-0.59	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81494	0.4834	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82149	-0.0600	10	0.72032	D	0.01	-12.5213	19.8344	0.96650	0.0:0.0:1.0:0.0	.	1344	Q9NRJ4	TULP4_HUMAN	Q	1344	ENSP00000356064:R1344Q	ENSP00000356064:R1344Q	R	+	2	0	TULP4	158844714	1.000000	0.71417	0.848000	0.33437	0.858000	0.48976	9.263000	0.95617	2.696000	0.92011	0.561000	0.74099	CGA		0.537	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1		NM_020245		9	47	0	0	0	0.004482	0	9	47		
TMEM181	57583	broad.mit.edu	37	6	159052907	159052907	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159052907C>T	ENST00000367090.3	+	17	1837	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	609					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		AAGGAGGAGTCAGATAGTGAC	0.557																																						uc003qrm.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1825-1827)TCA>TTA		G protein-coupled receptor 178							23.0	27.0	26.0					6																	159052907		2178	4263	6441	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159052907C>T	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1826C>T	6.37:g.159052907C>T	ENSP00000356057:p.Ser609Leu						p.S609L	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	17	1837	+		Breast(66;0.000776)|Ovarian(120;0.0303)	609					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1826C>T	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250229	0.95305	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	.	.	.	5.89	5.89	0.94794	.	0.105878	0.64402	D	0.000004	T	0.51346	0.1669	N	0.22421	0.69	0.47698	D	0.999498	D	0.59357	0.985	P	0.53360	0.724	T	0.57388	-0.7820	9	0.87932	D	0	.	20.248	0.98401	0.0:1.0:0.0:0.0	.	609	Q9P2C4	TM181_HUMAN	L	516;609	.	ENSP00000323755:S516L	S	+	2	0	TMEM181	158972895	1.000000	0.71417	0.890000	0.34922	0.584000	0.36387	5.921000	0.70028	2.790000	0.95986	0.655000	0.94253	TCA		0.557	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1		NM_020823		3	4	0	0	0	0.004672	0	3	4		
SYTL3	94120	broad.mit.edu	37	6	159173048	159173048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159173048C>T	ENST00000297239.9	+	12	1317	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	SYTL3_ENST00000367081.3_Nonsense_Mutation_p.Q101*|SYTL3_ENST00000360448.3_Nonsense_Mutation_p.Q307*			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	375	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CCCGACCTTTCAGGAGACCTT	0.577																																						uc003qrp.2		NaN																	0					0						c.(1123-1125)CAG>TAG		synaptotagmin-like 3							69.0	60.0	63.0					6																	159173048		2203	4300	6503	SO:0001587	stop_gained	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159173048C>T	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1123C>T	6.37:g.159173048C>T	ENSP00000297239:p.Gln375*					SYTL3_uc011efp.1_Nonsense_Mutation_p.Q375*|SYTL3_uc003qro.2_Nonsense_Mutation_p.Q307*|SYTL3_uc003qrq.2_Nonsense_Mutation_p.Q307*|SYTL3_uc003qrr.2_Nonsense_Mutation_p.Q375*|SYTL3_uc003qrs.2_Nonsense_Mutation_p.Q307*|SYTL3_uc011efq.1_Nonsense_Mutation_p.Q101*	p.Q375*	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	12	1367	+		Breast(66;0.000776)|Ovarian(120;0.0303)	375			C2 1.		Q496J4|Q496J6|Q5U3B9	Nonsense_Mutation	SNP	ENST00000297239.9	37	c.1123C>T	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	C	40	8.064992	0.98635	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	.	.	.	5.75	3.83	0.44106	.	0.505655	0.22319	N	0.061627	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.4599	0.55727	0.1088:0.4569:0.4343:0.0	.	.	.	.	X	307;375;375;101	.	ENSP00000297239:Q375X	Q	+	1	0	SYTL3	159093036	0.979000	0.34478	0.960000	0.40013	0.986000	0.74619	2.314000	0.43743	1.297000	0.44761	0.655000	0.94253	CAG		0.577	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1				5	29	0	0	0	0.000602	0	5	29		
EZR	7430	broad.mit.edu	37	6	159204664	159204664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159204664G>A	ENST00000367075.3	-	7	754	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Nonsense_Mutation_p.Q164*|EZR_ENST00000337147.7_Nonsense_Mutation_p.Q196*	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	196	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCCAGGTCCTGAGCAATCTTC	0.393			T	ROS1	NSCLC																																	uc003qrt.3		NaN		Dom	yes		6	6q25.3	7430		ezrin			E					0				ovary(1)	1						c.(586-588)CAG>TAG		ezrin							125.0	119.0	121.0					6																	159204664		2203	4300	6503	SO:0001587	stop_gained	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159204664G>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.586C>T	6.37:g.159204664G>A	ENSP00000356042:p.Gln196*					EZR_uc011efs.1_Nonsense_Mutation_p.Q164*|EZR_uc003qru.3_Nonsense_Mutation_p.Q196*	p.Q196*	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	6	801	-		Breast(66;0.000776)|Ovarian(120;0.0303)	196			FERM.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Nonsense_Mutation	SNP	ENST00000367075.3	37	c.586C>T	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	G	36	5.852068	0.97023	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2493	0.93917	0.0:0.0:1.0:0.0	.	.	.	.	X	196;196;164	.	ENSP00000338934:Q196X	Q	-	1	0	EZR	159124652	1.000000	0.71417	0.130000	0.21974	0.886000	0.51366	9.751000	0.98889	2.542000	0.85734	0.650000	0.86243	CAG		0.393	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1		NM_003379		28	106	0	0	0	0.004656	0	28	106		
FNDC1	84624	broad.mit.edu	37	6	159677592	159677592	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159677592C>T	ENST00000297267.9	+	18	5303	c.5103C>T	c.(5101-5103)atC>atT	p.I1701I	FNDC1_ENST00000340366.6_Silent_p.I1638I	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1701	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAGACTTCATCAGGAACAAGT	0.423																																						uc010kjv.2		NaN																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(5101-5103)ATC>ATT		fibronectin type III domain containing 1							266.0	241.0	249.0					6																	159677592		1935	4148	6083	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159677592C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5103C>T	6.37:g.159677592C>T							p.I1701I	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	18	5303	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1701			Fibronectin type-III 5.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.5103C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	9.880	1.201259	0.22121	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.59	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.2526	2.442	0.04497	0.2689:0.4618:0.1183:0.151	.	.	.	.	X	1597	.	.	Q	+	1	0	FNDC1	159597582	0.987000	0.35691	1.000000	0.80357	0.996000	0.88848	0.187000	0.16998	0.254000	0.21573	0.591000	0.81541	CAG		0.423	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		NM_032532		62	173	0	0	0	0.01441	0	62	173		
FNDC1	84624	broad.mit.edu	37	6	159677606	159677606	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159677606C>G	ENST00000297267.9	+	18	5317	c.5117C>G	c.(5116-5118)tCc>tGc	p.S1706C	FNDC1_ENST00000340366.6_Missense_Mutation_p.S1643C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1706	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AACAAGTGGTCCACTCAAGCT	0.433																																						uc010kjv.2		NaN																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(5116-5118)TCC>TGC		fibronectin type III domain containing 1							266.0	241.0	249.0					6																	159677606		1940	4158	6098	SO:0001583	missense	84624					extracellular region		g.chr6:159677606C>G	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5117C>G	6.37:g.159677606C>G	ENSP00000297267:p.Ser1706Cys						p.S1706C	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	18	5317	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1706			Fibronectin type-III 5.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.5117C>G	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768878	0.90020	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.57907	0.37;0.37	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64508	-0.6391	9	.	.	.	-28.4037	19.58	0.95464	0.0:1.0:0.0:0.0	.	1706	Q4ZHG4	FNDC1_HUMAN	C	1706;1643	ENSP00000297267:S1706C;ENSP00000342460:S1643C	.	S	+	2	0	FNDC1	159597596	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.534000	0.82004	2.625000	0.88918	0.591000	0.81541	TCC		0.433	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		NM_032532		65	168	0	0	0	0.01441	0	65	168		
IGF2R	3482	broad.mit.edu	37	6	160500612	160500612	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:160500612G>C	ENST00000356956.1	+	38	5627	c.5479G>C	c.(5479-5481)Gtg>Ctg	p.V1827L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1827					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTTTGTCCAGGTGACTCGCGA	0.577																																						uc003qta.2		NaN																	0				ovary(3)	3						c.(5479-5481)GTG>CTG		insulin-like growth factor 2 receptor precursor							62.0	51.0	54.0					6																	160500612		2203	4300	6503	SO:0001630	splice_region_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160500612G>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5479-1G>C	6.37:g.160500612G>C							p.V1827L	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	38	5627	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1827			13.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5479G>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551339	0.86127	.	.	ENSG00000197081	ENST00000356956	T	0.02301	4.35	6.0	6.0	0.97389	Mannose-6-phosphate receptor, binding (1);	0.060506	0.64402	D	0.000003	T	0.04907	0.0132	L	0.53617	1.68	0.80722	D	1	D	0.63046	0.992	P	0.62382	0.901	T	0.50423	-0.8830	9	.	.	.	-34.2229	15.9191	0.79547	0.0:0.1344:0.8656:0.0	.	1827	P11717	MPRI_HUMAN	L	1827	ENSP00000349437:V1827L	.	V	+	1	0	IGF2R	160420602	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.035000	0.49759	2.848000	0.98002	0.655000	0.94253	GTG		0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1		NM_000876	Missense_Mutation	3	11	0	0	0	0.004672	0	3	11		
LPA	4018	broad.mit.edu	37	6	160998217	160998217	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:160998217A>G	ENST00000316300.5	-	28	4626	c.4582T>C	c.(4582-4584)Tct>Cct	p.S1528P	LPA_ENST00000447678.1_Missense_Mutation_p.S1528P			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4036	Kringle 14. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGTATCATAGATGACCAAGAT	0.463																																						uc003qtl.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(4582-4584)TCT>CCT		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						183.0	194.0	190.0					6																	160998217		2187	4296	6483	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160998217A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4582T>C	6.37:g.160998217A>G	ENSP00000321334:p.Ser1528Pro						p.S1528P	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	29	4702	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4036			Kringle 36.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4582T>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	a	6.142	0.394454	0.11638	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.67345	-0.26;-0.26	2.55	1.27	0.21489	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.75715	0.3887	H	0.96430	3.82	0.09310	N	1	P	0.48834	0.916	D	0.66979	0.948	T	0.64850	-0.6310	9	0.31617	T	0.26	.	5.662	0.17674	0.7206:0.2794:0.0:0.0	.	4036	P08519	APOA_HUMAN	P	1528	ENSP00000321334:S1528P;ENSP00000395608:S1528P	ENSP00000321334:S1528P	S	-	1	0	LPA	160918207	0.990000	0.36364	0.083000	0.20561	0.245000	0.25701	3.373000	0.52394	0.173000	0.19788	0.352000	0.21897	TCT		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1		NM_005577		37	144	0	0	0	0.004878	0	37	144		
MLLT4	4301	broad.mit.edu	37	6	168352586	168352586	+	Silent	SNP	C	C	T	rs141139097	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:168352586C>T	ENST00000447894.2	+	29	4531	c.4531C>T	c.(4531-4533)Ctg>Ttg	p.L1511L	MLLT4_ENST00000366806.2_Silent_p.L1511L|MLLT4_ENST00000392108.3_Silent_p.L1511L|MLLT4_ENST00000351017.4_Silent_p.L1518L|MLLT4_ENST00000392112.1_Silent_p.L1494L|MLLT4_ENST00000400822.3_Silent_p.L1510L|MLLT4_ENST00000344191.4_Silent_p.L1511L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1511					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.L1495L(1)|p.L1511L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGGGGACAGTCTGTCCCCCGA	0.602			T	MLL	AL																																	uc003qwd.2		NaN		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(4528-4530)CTG>TTG		myeloid/lymphoid or mixed-lineage leukemia							32.0	41.0	38.0					6																	168352586		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352586C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4531C>T	6.37:g.168352586C>T						MLLT4_uc003qwb.1_Silent_p.L1495L|MLLT4_uc003qwc.1_Silent_p.L1511L|MLLT4_uc003qwg.1_Silent_p.L820L	p.L1510L	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	29	4670	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1511					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.4528C>T																																																																																					0.602	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1		NM_005936		24	29	0	0	0	0.004656	0	24	29		
THBS2	7058	broad.mit.edu	37	6	169629759	169629759	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:169629759G>C	ENST00000366787.3	-	15	2416	c.2167C>G	c.(2167-2169)Ctg>Gtg	p.L723V	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	723					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GAATTTGGCAGATGGGGGCAG	0.483																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NaN																	0				ovary(5)	5						c.(2167-2169)CTG>GTG		thrombospondin 2 precursor							146.0	129.0	135.0					6																	169629759		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169629759G>C		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2167C>G	6.37:g.169629759G>C	ENSP00000355751:p.Leu723Val						p.L723V	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	15	2415	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	723			TSP type-3 1.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2167C>G	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709878	0.30322	.	.	ENSG00000186340	ENST00000366787	D	0.97575	-4.44	4.4	4.4	0.53042	.	0.000000	0.32488	U	0.006023	D	0.90259	0.6954	L	0.35593	1.075	0.42723	D	0.993686	B	0.24576	0.106	B	0.23150	0.044	D	0.88270	0.2929	10	0.27785	T	0.31	-21.347	11.9102	0.52735	0.0859:0.0:0.9141:0.0	.	723	P35442	TSP2_HUMAN	V	723	ENSP00000355751:L723V	ENSP00000355751:L723V	L	-	1	2	THBS2	169371684	1.000000	0.71417	0.678000	0.29963	0.970000	0.65996	4.275000	0.58927	2.144000	0.66660	0.579000	0.79373	CTG		0.483	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1		NM_003247		22	97	0	0	0	0.00278	0	22	97		
CARD11	84433	broad.mit.edu	37	7	2966391	2966391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:2966391C>T	ENST00000396946.4	-	14	2192	c.1789G>A	c.(1789-1791)Gac>Aac	p.D597N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	597					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTAAGGCGTCAAACCCGCCG	0.577			Mis		DLBCL																																	uc003smv.2		NaN		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(1789-1791)GAC>AAC		caspase recruitment domain family, member 11							84.0	65.0	71.0					7																	2966391		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2966391C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1789G>A	7.37:g.2966391C>T	ENSP00000380150:p.Asp597Asn						p.D597N	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	14	2193	-		Ovarian(82;0.0115)	597					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1789G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634349	0.29068	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.49720	0.77;0.77	4.67	4.67	0.58626	.	0.136721	0.48286	D	0.000194	T	0.27241	0.0668	N	0.08118	0	0.49299	D	0.999772	B	0.33413	0.411	B	0.30105	0.111	T	0.11397	-1.0589	10	0.21014	T	0.42	-20.5357	15.9329	0.79679	0.0:1.0:0.0:0.0	.	597	Q9BXL7	CAR11_HUMAN	N	597;68	ENSP00000380150:D597N;ENSP00000347695:D68N	ENSP00000347695:D68N	D	-	1	0	CARD11	2932917	0.995000	0.38212	0.669000	0.29828	0.600000	0.36913	5.077000	0.64419	2.448000	0.82819	0.555000	0.69702	GAC		0.577	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4		NM_032415		4	11	0	0	0	0.009096	0	4	11		
CARD11	84433	broad.mit.edu	37	7	2966418	2966418	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:2966418C>T	ENST00000396946.4	-	14	2165	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	588					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGTCTTCTTCGACTGTGCTG	0.567			Mis		DLBCL																																	uc003smv.2		NaN		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(1762-1764)GAA>AAA		caspase recruitment domain family, member 11							81.0	64.0	70.0					7																	2966418		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2966418C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1762G>A	7.37:g.2966418C>T	ENSP00000380150:p.Glu588Lys						p.E588K	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	14	2166	-		Ovarian(82;0.0115)	588					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1762G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560353	0.45590	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.53423	0.62;0.62	4.67	4.67	0.58626	.	0.131130	0.52532	D	0.000061	T	0.27278	0.0669	N	0.08118	0	0.50039	D	0.999845	B	0.10296	0.003	B	0.06405	0.002	T	0.09662	-1.0664	10	0.11794	T	0.64	-12.2119	15.9329	0.79679	0.0:1.0:0.0:0.0	.	588	Q9BXL7	CAR11_HUMAN	K	588;59	ENSP00000380150:E588K;ENSP00000347695:E59K	ENSP00000347695:E59K	E	-	1	0	CARD11	2932944	0.997000	0.39634	0.642000	0.29436	0.929000	0.56500	4.665000	0.61547	2.448000	0.82819	0.555000	0.69702	GAA		0.567	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4		NM_032415		5	12	0	0	0	0.001168	0	5	12		
RNF216	54476	broad.mit.edu	37	7	5780687	5780687	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:5780687G>C	ENST00000425013.2	-	4	1014	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E	RNF216_ENST00000389902.3_Missense_Mutation_p.Q321E	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	264					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTGGGCTCTTGAGATTCTTGC	0.453																																						uc003soy.1		NaN																	0				ovary(3)|breast(2)	5						c.(790-792)CAA>GAA		ring finger protein 216 isoform b							72.0	74.0	73.0					7																	5780687		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5780687G>C	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.790C>G	7.37:g.5780687G>C	ENSP00000404602:p.Gln264Glu					RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.Q321E	p.Q264E	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	4	980	-		Ovarian(82;0.07)	264					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.790C>G	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437575	0.25900	.	.	ENSG00000011275	ENST00000425013;ENST00000389902	T;T	0.42513	0.97;0.97	5.97	5.1	0.69264	.	0.405752	0.25994	N	0.026981	T	0.35422	0.0931	L	0.36672	1.1	0.21184	N	0.999765	B;B	0.31625	0.011;0.332	B;B	0.27076	0.019;0.076	T	0.07385	-1.0775	10	0.32370	T	0.25	-6.6457	17.6459	0.88148	0.0:0.1247:0.8753:0.0	.	264;321	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	E	264;321	ENSP00000404602:Q264E;ENSP00000374552:Q321E	ENSP00000374550:Q264E	Q	-	1	0	RNF216	5747213	1.000000	0.71417	0.980000	0.43619	0.898000	0.52572	4.310000	0.59141	0.875000	0.35847	-1.268000	0.01426	CAA		0.453	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1		NM_207111		32	108	0	0	0	0.012213	0	32	108		
ARL4A	10124	broad.mit.edu	37	7	12728246	12728246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:12728246G>A	ENST00000396663.1	+	2	849	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	ARL4A_ENST00000396662.1_Missense_Mutation_p.E123K|ARL4A_ENST00000396664.2_Missense_Mutation_p.E123K|ARL4A_ENST00000404894.1_Missense_Mutation_p.E123K|ARL4A_ENST00000356797.3_Missense_Mutation_p.E123K	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	123					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		TAGGATATCAGAAAATCAGGG	0.378																																						uc003ssp.2		NaN																	0					0						c.(367-369)GAA>AAA		ADP-ribosylation factor-like 4A							61.0	59.0	60.0					7																	12728246		2203	4300	6503	SO:0001583	missense	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12728246G>A	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	695	protein-coding gene	gene with protein product		604786	"""ADP-ribosylation factor-like 4"""	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.367G>A	7.37:g.12728246G>A	ENSP00000379898:p.Glu123Lys					ARL4A_uc003ssq.2_Missense_Mutation_p.E123K|ARL4A_uc003ssr.2_Missense_Mutation_p.E123K|ARL4A_uc003sss.2_Missense_Mutation_p.E123K	p.E123K	NM_001037164	NP_001032241	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	644	+			123					A4D119|P80418|Q49AF5	Missense_Mutation	SNP	ENST00000396663.1	37	c.367G>A	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885484	0.91814	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000396663;ENST00000404894	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	4.39	4.39	0.52855	Small GTP-binding protein domain (1);	0.069051	0.56097	D	0.000025	T	0.75004	0.3791	L	0.53249	1.67	0.80722	D	1	D	0.56746	0.977	P	0.57152	0.814	T	0.78929	-0.2010	10	0.87932	D	0	.	17.5857	0.87981	0.0:0.0:1.0:0.0	.	123	P40617	ARL4A_HUMAN	K	123	ENSP00000379897:E123K;ENSP00000349250:E123K;ENSP00000379899:E123K;ENSP00000379898:E123K;ENSP00000385236:E123K	ENSP00000349250:E123K	E	+	1	0	ARL4A	12694771	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.499000	0.97975	2.465000	0.83290	0.549000	0.68633	GAA		0.378	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1		NM_005738		11	78	0	0	0	0.013537	0	11	78		
ETV1	2115	broad.mit.edu	37	7	13975376	13975376	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:13975376G>C	ENST00000430479.1	-	8	1178	c.511C>G	c.(511-513)Cca>Gca	p.P171A	ETV1_ENST00000242066.5_Missense_Mutation_p.P153A|ETV1_ENST00000343495.5_Missense_Mutation_p.P153A|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Missense_Mutation_p.P131A|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405192.2_Missense_Mutation_p.P171A|ETV1_ENST00000405218.2_Missense_Mutation_p.P171A|ETV1_ENST00000420159.2_Missense_Mutation_p.P113A|ETV1_ENST00000405358.4_Missense_Mutation_p.P185A|ETV1_ENST00000403685.1_Missense_Mutation_p.P153A	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	171					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GACTGCGATGGAGGGAGGTGA	0.512			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1		NaN		Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	0				prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(511-513)CCA>GCA		ets variant gene 1 isoform a							208.0	212.0	211.0					7																	13975376		2092	4227	6319	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975376G>C		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.511C>G	7.37:g.13975376G>C	ENSP00000405327:p.Pro171Ala					ETV1_uc011jxn.1_Missense_Mutation_p.P131A|ETV1_uc011jxo.1_Intron|ETV1_uc011jxp.1_Missense_Mutation_p.P113A|ETV1_uc003ssw.3_Missense_Mutation_p.P171A|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.P153A|ETV1_uc011jxs.1_Missense_Mutation_p.P153A|ETV1_uc010ktv.2_Missense_Mutation_p.P40A	p.P171A	NM_004956	NP_004947	P50549	ETV1_HUMAN			8	1250	-			171					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.511C>G	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957421	0.53400	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956	T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.83	5.83	0.93111	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.330798	0.33144	N	0.005225	T	0.47838	0.1467	L	0.47016	1.485	0.80722	D	1	B;B;P;D;B;B;B	0.67145	0.002;0.006;0.489;0.996;0.349;0.243;0.028	B;B;B;D;B;B;B	0.76071	0.007;0.025;0.253;0.987;0.298;0.183;0.11	T	0.31668	-0.9935	10	0.62326	D	0.03	.	20.189	0.98225	0.0:0.0:1.0:0.0	.	182;153;185;113;131;113;171	Q59GA7;P50549-2;B5MCT2;F5GXR2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;ETV1_HUMAN	A	171;153;153;113;171;185;131;171;153;113	ENSP00000405327:P171A;ENSP00000242066:P153A;ENSP00000340853:P153A;ENSP00000411626:P113A;ENSP00000385381:P171A;ENSP00000384085:P185A;ENSP00000384138:P131A;ENSP00000385551:P171A;ENSP00000385686:P153A;ENSP00000393078:P113A	ENSP00000242066:P153A	P	-	1	0	ETV1	13941901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.273000	0.65564	2.787000	0.95880	0.650000	0.86243	CCA		0.512	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1		NM_004956		30	176	0	0	0	0.009535	0	30	176		
AGMO	392636	broad.mit.edu	37	7	15601351	15601351	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:15601351T>C	ENST00000342526.3	-	1	289	c.120A>G	c.(118-120)gtA>gtG	p.V40V		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	40					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCACCTTTTTTACATAATCAG	0.373																																						uc003stb.1		NaN																	0					0						c.(118-120)GTA>GTG		transmembrane protein 195							109.0	112.0	111.0					7																	15601351		2203	4300	6503	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15601351T>C		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.120A>G	7.37:g.15601351T>C							p.V40V	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			1	290	-			40					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.120A>G	CCDS34604.1																																																																																				0.373	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2		NM_001004320		30	127	0	0	0	0.003271	0	30	127		
AGR2	10551	broad.mit.edu	37	7	16840963	16840963	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:16840963G>A	ENST00000419304.2	-	3	336	c.184C>T	c.(184-186)Cta>Tta	p.L62L	AGR2_ENST00000486219.1_5'Flank|AGR2_ENST00000419572.2_Silent_p.L82L|AGR2_ENST00000401412.1_Silent_p.L62L	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	62					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GATTTATATAGAGCTTCTTCA	0.388																																						uc003str.2		NaN																	0					0						c.(184-186)CTA>TTA		anterior gradient 2 homolog precursor							116.0	111.0	113.0					7																	16840963		2203	4300	6503	SO:0001819	synonymous_variant	10551				mucus secretion	endoplasmic reticulum|extracellular region	protein binding	g.chr7:16840963G>A	AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"""Protein disulfide isomerases"""	328	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 17"""	606358	"""anterior gradient 2 homolog (Xenopus laevis)"""			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.184C>T	7.37:g.16840963G>A						AGR2_uc011jxy.1_3'UTR	p.L62L	NM_006408	NP_006399	O95994	AGR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	3	371	-	Lung NSC(10;0.0376)|all_lung(11;0.0855)		62						Silent	SNP	ENST00000419304.2	37	c.184C>T	CCDS5364.1																																																																																				0.388	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2		NM_006408		14	55	0	0	0	0.00245	0	14	55		
HDAC9	9734	broad.mit.edu	37	7	18705862	18705862	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:18705862G>A	ENST00000432645.2	+	11	1485	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	HDAC9_ENST00000405010.3_Silent_p.L495L|HDAC9_ENST00000417496.2_Silent_p.L493L|HDAC9_ENST00000428307.2_Silent_p.L451L|HDAC9_ENST00000401921.1_Silent_p.L454L|HDAC9_ENST00000524023.1_Silent_p.L418L|HDAC9_ENST00000441542.2_Silent_p.L498L|HDAC9_ENST00000406072.1_Silent_p.L482L|HDAC9_ENST00000406451.4_Silent_p.L495L|HDAC9_ENST00000456174.2_Silent_p.L467L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	495					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTGAACAACTGAAGCAACCAG	0.473											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003suh.2		NaN																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1483-1485)CTG>CTA		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						118.0	117.0	117.0					7																	18705862		1918	4133	6051	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18705862G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1485G>A	7.37:g.18705862G>A			OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	727	HDAC9_uc003sue.2_Silent_p.L495L|HDAC9_uc011jyd.1_Silent_p.L495L|HDAC9_uc003sui.2_Silent_p.L498L|HDAC9_uc003suj.2_Silent_p.L454L|HDAC9_uc011jya.1_Silent_p.L492L|HDAC9_uc003sua.1_Silent_p.L473L|HDAC9_uc011jyb.1_Silent_p.L451L|HDAC9_uc003sud.1_Silent_p.L495L|HDAC9_uc011jyc.1_Silent_p.L454L|HDAC9_uc003suf.1_Silent_p.L526L|HDAC9_uc010kud.1_Silent_p.L498L|HDAC9_uc011jye.1_Silent_p.L467L|HDAC9_uc011jyf.1_Silent_p.L418L|HDAC9_uc010kue.1_Intron	p.L495L	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			11	1526	+	all_lung(11;0.187)		495					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1485G>A	CCDS47555.1																																																																																				0.473	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1				36	133	0	0	0	0.004289	0	36	133		
NUPL2	11097	broad.mit.edu	37	7	23240239	23240239	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:23240239G>C	ENST00000258742.5	+	7	1406	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	383	Interaction with GLE1.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)	p.D383Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATTGCAACAGATAATGTGTT	0.393																																						uc003svu.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	skin(2)|ovary(1)	3						c.(1147-1149)GAT>CAT		nucleoporin like 2							128.0	125.0	126.0					7																	23240239		2203	4300	6503	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23240239G>C	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.1147G>C	7.37:g.23240239G>C	ENSP00000258742:p.Asp383His					NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Missense_Mutation_p.D260H|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Missense_Mutation_p.D260H|NUPL2_uc011jyx.1_Missense_Mutation_p.D155H	p.D383H	NM_007342	NP_031368	O15504	NUPL2_HUMAN			7	1406	+			383			Interaction with GLE1.		A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.1147G>C	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923697	0.34002	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.32753	1.47;1.44	5.82	4.93	0.64822	.	0.580439	0.19181	N	0.120662	T	0.45617	0.1351	M	0.61703	1.905	0.28895	N	0.893609	D	0.67145	0.996	P	0.59288	0.855	T	0.43523	-0.9386	10	0.51188	T	0.08	-5.7261	9.9054	0.41372	0.0725:0.1404:0.7871:0.0	.	383	O15504	NUPL2_HUMAN	H	383;408	ENSP00000258742:D383H;ENSP00000401475:D408H	ENSP00000258742:D383H	D	+	1	0	NUPL2	23206764	1.000000	0.71417	0.054000	0.19295	0.422000	0.31414	4.282000	0.58971	1.428000	0.47296	0.655000	0.94253	GAT		0.393	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2		NM_007342		28	174	0	0	0	0.00632	0	28	174		
MTURN	222166	broad.mit.edu	37	7	30174846	30174846	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:30174846G>A	ENST00000324453.8	+	1	421	c.94G>A	c.(94-96)Gat>Aat	p.D32N	C7orf41_ENST00000415604.1_Missense_Mutation_p.D32N|C7orf41_ENST00000409688.1_Missense_Mutation_p.D32N	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		32					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						ACGCAGGATGGATTTCTACGC	0.632																																						uc011kab.1		NaN																	0					0						c.(94-96)GAT>AAT		hypothetical protein LOC222166							22.0	30.0	28.0					7																	30174846		2178	4280	6458	SO:0001583	missense	222166							g.chr7:30174846G>A																												ENST00000324453.8:c.94G>A	7.37:g.30174846G>A	ENSP00000324204:p.Asp32Asn					C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Missense_Mutation_p.D32N	p.D32N	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN			1	295	+			32					B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Missense_Mutation	SNP	ENST00000324453.8	37	c.94G>A	CCDS5425.2	.	.	.	.	.	.	.	.	.	.	G	32	5.128242	0.94473	.	.	ENSG00000180354	ENST00000324453;ENST00000409688;ENST00000415604	.	.	.	3.66	3.66	0.41972	.	0.219648	0.34484	U	0.003923	T	0.61937	0.2387	L	0.27053	0.805	0.80722	D	1	D	0.60575	0.988	D	0.73708	0.981	T	0.63157	-0.6700	9	0.45353	T	0.12	-4.6155	12.8106	0.57637	0.0:0.0:1.0:0.0	.	32	Q8N3F0	CG041_HUMAN	N	32	.	ENSP00000324204:D32N	D	+	1	0	C7orf41	30141371	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	8.362000	0.90100	1.567000	0.49668	0.297000	0.19635	GAT		0.632	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1				3	13	0	0	0	0.004672	0	3	13		
EEPD1	80820	broad.mit.edu	37	7	36327382	36327382	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:36327382G>A	ENST00000242108.4	+	6	2029	c.1311G>A	c.(1309-1311)ctG>ctA	p.L437L	EEPD1_ENST00000534978.1_Silent_p.L437L	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	437					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGGAAACCCTGAAAGGTAGGA	0.567																																						uc003tfa.2		NaN																	0					0						c.(1309-1311)CTG>CTA		endonuclease/exonuclease/phosphatase family							111.0	91.0	98.0					7																	36327382		2203	4300	6503	SO:0001819	synonymous_variant	80820				DNA repair		DNA binding	g.chr7:36327382G>A	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1311G>A	7.37:g.36327382G>A							p.L437L	NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN			6	1951	+			437					Q96K64|Q9C0F7	Silent	SNP	ENST00000242108.4	37	c.1311G>A	CCDS34619.1																																																																																				0.567	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1		NM_030636		44	78	0	0	0	0.01441	0	44	78		
PSMA2	5683	broad.mit.edu	37	7	42964297	42964297	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:42964297C>T	ENST00000223321.4	-	4	415	c.351G>A	c.(349-351)gtG>gtA	p.V117V	PSMA2_ENST00000445517.1_Silent_p.V47V|PSMA2_ENST00000442788.1_Silent_p.V117V|PSMA2_ENST00000538645.1_Silent_p.V39V	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ATTCTTGCATCACAGAAGCTA	0.393																																						uc003thy.2		NaN																	0				large_intestine(2)|ovary(1)	3						c.(349-351)GTG>GTA		proteasome subunit alpha type 2							143.0	132.0	136.0					7																	42964297		2203	4300	6503	SO:0001819	synonymous_variant	5683				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|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr7:42964297C>T	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"""Proteasome (prosome, macropain) subunits"""	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.351G>A	7.37:g.42964297C>T						C7orf25_uc010kxr.2_5'UTR|PSMA2_uc010kxt.2_Silent_p.V39V|PSMA2_uc003thz.1_Silent_p.V39V	p.V117V	NM_002787	NP_002778	P25787	PSA2_HUMAN			4	399	-			117					Q6ICS6|Q9BU45	Silent	SNP	ENST00000223321.4	37	c.351G>A	CCDS5467.1																																																																																				0.393	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1		NM_002787		27	131	0	0	0	0.005443	0	27	131		
HECW1	23072	broad.mit.edu	37	7	43540819	43540819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:43540819G>A	ENST00000395891.2	+	21	4134	c.3529G>A	c.(3529-3531)Gaa>Aaa	p.E1177K	HECW1_ENST00000453890.1_Missense_Mutation_p.E1143K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1177					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGTCTCTTTGAAGAAGAGAT	0.438																																						uc003tid.1		NaN																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(3529-3531)GAA>AAA		NEDD4-like ubiquitin-protein ligase 1							64.0	59.0	61.0					7																	43540819		1872	4099	5971	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43540819G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3529G>A	7.37:g.43540819G>A	ENSP00000379228:p.Glu1177Lys					HECW1_uc011kbi.1_Missense_Mutation_p.E1143K	p.E1177K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			21	4134	+			1177					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3529G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384733	0.82792	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.84516	-1.86;-1.86	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	M	0.61703	1.905	0.80722	D	1	P;D	0.58620	0.829;0.983	B;P	0.55871	0.325;0.786	D	0.90929	0.4789	10	0.87932	D	0	.	17.6422	0.88139	0.0:0.0:1.0:0.0	.	1143;1177	B4DH42;Q76N89	.;HECW1_HUMAN	K	1177;1143;1177	ENSP00000379228:E1177K;ENSP00000407774:E1143K	ENSP00000265522:E1177K	E	+	1	0	HECW1	43507344	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.852000	0.99516	2.246000	0.74042	0.603000	0.83216	GAA		0.438	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2		NM_015052		14	63	0	0	0	0.001855	0	14	63		
NPC1L1	29881	broad.mit.edu	37	7	44573037	44573037	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:44573037C>T	ENST00000289547.4	-	8	2457	c.2402G>A	c.(2401-2403)aGg>aAg	p.R801K	NPC1L1_ENST00000423141.1_3'UTR|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R801K|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R801K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	801					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TACCTCCTGCCTCTTGCTGTC	0.622																																						uc003tlb.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2401-2403)AGG>AAG		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						54.0	52.0	53.0					7																	44573037		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44573037C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2402G>A	7.37:g.44573037C>T	ENSP00000289547:p.Arg801Lys					NPC1L1_uc003tlc.2_Missense_Mutation_p.R801K|NPC1L1_uc011kbw.1_Missense_Mutation_p.R801K|NPC1L1_uc003tld.2_3'UTR	p.R801K	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			8	2458	-			801			Cytoplasmic (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2402G>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	29.0	4.968864	0.92855	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.97114	-4.25;-4.25;-4.25	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.98773	0.9587	M	0.93420	3.415	0.45502	D	0.998465	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.994;0.998	D	0.99585	1.0974	10	0.72032	D	0.01	-24.5832	15.3221	0.74129	0.0:1.0:0.0:0.0	.	801;801;801	B7ZLE6;Q17RV5;D3DVK9	.;.;.	K	801	ENSP00000289547:R801K;ENSP00000370552:R801K;ENSP00000438033:R801K	ENSP00000289547:R801K	R	-	2	0	NPC1L1	44539562	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.961000	0.76042	2.275000	0.75901	0.462000	0.41574	AGG		0.622	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1		NM_013389		29	40	0	0	0	0.007291	0	29	40		
COBL	23242	broad.mit.edu	37	7	51095844	51095844	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:51095844C>T	ENST00000265136.7	-	10	3114	c.2949G>A	c.(2947-2949)caG>caA	p.Q983Q	COBL_ENST00000395542.2_Silent_p.Q1065Q	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	983					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACGATCCCTCTGGGAAGACT	0.557																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NaN																	0				skin(3)|ovary(2)	5						c.(2947-2949)CAG>CAA		cordon-bleu homolog							70.0	64.0	66.0					7																	51095844		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51095844C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2949G>A	7.37:g.51095844C>T						COBL_uc003tps.2_Silent_p.Q1040Q|COBL_uc011kcl.1_Silent_p.Q983Q|COBL_uc003tpp.3_Silent_p.Q769Q|COBL_uc003tpq.3_Silent_p.Q924Q|COBL_uc003tpo.3_Silent_p.Q525Q	p.Q983Q	NM_015198	NP_056013	O75128	COBL_HUMAN			10	3134	-	Glioma(55;0.08)		983					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.2949G>A	CCDS34637.1																																																																																				0.557	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1		NM_015198		16	62	0	0	0	0.004007	0	16	62		
VSTM2A	222008	broad.mit.edu	37	7	54612455	54612455	+	Missense_Mutation	SNP	C	C	T	rs531417846		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:54612455C>T	ENST00000407838.3	+	2	626	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	VSTM2A_ENST00000404951.1_Missense_Mutation_p.P74S|VSTM2A_ENST00000302287.3_Missense_Mutation_p.P74S|VSTM2A_ENST00000402026.2_Missense_Mutation_p.P73S|VSTM2A_ENST00000402613.3_Missense_Mutation_p.P74S	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	74	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GGACCTGGATCCCGGGGCCGA	0.736													C|||	1	0.000199681	0.0	0.0	5008	,	,		10836	0.0		0.0	False		,,,				2504	0.001					uc010kzf.2		NaN																	0					0						c.(220-222)CCC>TCC		V-set and transmembrane domain containing 2							17.0	19.0	18.0					7																	54612455		2199	4296	6495	SO:0001583	missense	222008					extracellular region		g.chr7:54612455C>T	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.220C>T	7.37:g.54612455C>T	ENSP00000384967:p.Pro74Ser					VSTM2A_uc010kze.2_Missense_Mutation_p.P74S|VSTM2A_uc003tqc.3_Missense_Mutation_p.P74S	p.P74S	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		2	625	+			74			Ig-like V-type.		A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.220C>T	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	C	0.840	-0.742266	0.03088	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.42	-0.0853	0.13686	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.737333	0.13240	N	0.402916	T	0.14917	0.0360	N	0.22421	0.69	0.09310	N	1	B;P;P	0.45176	0.062;0.465;0.852	B;B;B	0.39217	0.055;0.085;0.294	T	0.18398	-1.0338	10	0.16896	T	0.51	-7.0979	5.4863	0.16751	0.126:0.4225:0.3709:0.0806	.	74;74;74	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	S	74;74;74;73;74	ENSP00000303108:P74S;ENSP00000384967:P74S;ENSP00000384701:P74S;ENSP00000385933:P73S;ENSP00000384103:P74S	ENSP00000303108:P74S	P	+	1	0	VSTM2A	54579949	0.131000	0.22433	0.001000	0.08648	0.004000	0.04260	0.303000	0.19210	0.231000	0.21079	0.542000	0.68232	CCC		0.736	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1		NM_182546		7	14	0	0	0	0.001984	0	7	14		
SUMF2	25870	broad.mit.edu	37	7	56141885	56141885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:56141885C>T	ENST00000413756.1	+	4	381	c.358C>T	c.(358-360)Cca>Tca	p.P120S	SUMF2_ENST00000395436.2_Intron|SUMF2_ENST00000437307.2_Missense_Mutation_p.P120S|SUMF2_ENST00000342190.6_Missense_Mutation_p.P139S|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000275607.9_Missense_Mutation_p.P32S|SUMF2_ENST00000434526.2_Missense_Mutation_p.P139S			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	120					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGTGGCTTCCAGTGGAAAA	0.552											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003trv.2		NaN																	0				ovary(1)|skin(1)	2						c.(415-417)CCA>TCA		sulfatase modifying factor 2 isoform e							217.0	196.0	203.0					7																	56141885		2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56141885C>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.358C>T	7.37:g.56141885C>T	ENSP00000406445:p.Pro120Ser		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Missense_Mutation_p.P139S|SUMF2_uc011kcx.1_Missense_Mutation_p.P139S|SUMF2_uc003trt.2_Missense_Mutation_p.P32S|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	p.P139S	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	446	+	Breast(14;0.214)		120					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.415C>T		.	.	.	.	.	.	.	.	.	.	C	25.1	4.601554	0.87055	.	.	ENSG00000129103	ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000437307;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	4.59	4.59	0.56863	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	M	0.68593	2.085	0.80722	D	1	D;D;P	0.71674	0.99;0.998;0.839	P;P;B	0.61592	0.612;0.891;0.242	D	0.93004	0.6426	10	0.22706	T	0.39	-17.5866	17.6572	0.88181	0.0:1.0:0.0:0.0	.	142;120;139	E7EMF9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	S	139;32;142;139;120;120;137	ENSP00000400922:P139S;ENSP00000275607:P32S;ENSP00000414434:P142S;ENSP00000341938:P139S;ENSP00000415989:P120S;ENSP00000406445:P120S;ENSP00000410796:P137S	ENSP00000275607:P32S	P	+	1	0	SUMF2	56109379	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.186000	0.77722	2.843000	0.97960	0.585000	0.79938	CCA		0.552	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2		NM_015411		41	164	0	0	0	0.011902	0	41	164		
SUMF2	25870	broad.mit.edu	37	7	56141899	56141899	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:56141899A>G	ENST00000413756.1	+	4	395	c.372A>G	c.(370-372)gcA>gcG	p.A124A	SUMF2_ENST00000395436.2_Intron|SUMF2_ENST00000437307.2_Silent_p.A124A|SUMF2_ENST00000342190.6_Silent_p.A143A|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000275607.9_Silent_p.A36A|SUMF2_ENST00000434526.2_Silent_p.A143A			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	124					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGAAAAGGCATTTTGGAGGC	0.552											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003trv.2		NaN																	0				ovary(1)|skin(1)	2						c.(427-429)GCA>GCG		sulfatase modifying factor 2 isoform e							210.0	191.0	197.0					7																	56141899		2203	4300	6503	SO:0001819	synonymous_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56141899A>G	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.372A>G	7.37:g.56141899A>G			OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Silent_p.A143A|SUMF2_uc011kcx.1_Silent_p.A143A|SUMF2_uc003trt.2_Silent_p.A36A|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	p.A143A	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	460	+	Breast(14;0.214)		124					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Silent	SNP	ENST00000413756.1	37	c.429A>G																																																																																					0.552	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2		NM_015411		37	156	0	0	0	0.006999	0	37	156		
SUMF2	25870	broad.mit.edu	37	7	56142308	56142308	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:56142308G>A	ENST00000413756.1	+	5	437	c.414G>A	c.(412-414)gaG>gaA	p.E138E	SUMF2_ENST00000395436.2_Silent_p.E142E|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000342190.6_Silent_p.E157E|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000275607.9_Silent_p.E50E|SUMF2_ENST00000434526.2_Silent_p.E157E			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	138					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCATCCGAGAGAGACTGGAGC	0.597											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003trv.2		NaN																	0				ovary(1)|skin(1)	2						c.(469-471)GAG>GAA		sulfatase modifying factor 2 isoform e							83.0	85.0	85.0					7																	56142308		2203	4300	6503	SO:0001819	synonymous_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56142308G>A	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.414G>A	7.37:g.56142308G>A			OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Silent_p.E157E|SUMF2_uc011kcx.1_Intron|SUMF2_uc003trt.2_Silent_p.E50E|SUMF2_uc011kcy.1_Silent_p.E142E|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_Intron|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	p.E157E	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	502	+	Breast(14;0.214)		138					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Silent	SNP	ENST00000413756.1	37	c.471G>A																																																																																					0.597	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2		NM_015411		14	96	0	0	0	0.001855	0	14	96		
ASL	435	broad.mit.edu	37	7	65554627	65554627	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:65554627C>G	ENST00000304874.9	+	14	1109	c.1007C>G	c.(1006-1008)tCa>tGa	p.S336*	ASL_ENST00000395332.3_Nonsense_Mutation_p.S336*|AC068533.7_ENST00000450043.1_Silent_p.V104V|ASL_ENST00000395331.3_Nonsense_Mutation_p.S316*|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Nonsense_Mutation_p.S310*	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	336					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TTTGAAGTGTCAGACACTATG	0.642																																						uc003tuo.2		NaN																	0				breast(2)	2						c.(1006-1008)TCA>TGA		argininosuccinate lyase isoform 1	L-Arginine(DB00125)						105.0	71.0	82.0					7																	65554627		2203	4300	6503	SO:0001587	stop_gained	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65554627C>G		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1007C>G	7.37:g.65554627C>G	ENSP00000307188:p.Ser336*					ASL_uc003tup.2_Nonsense_Mutation_p.S336*|ASL_uc003tur.2_Nonsense_Mutation_p.S310*|ASL_uc003tuq.2_Nonsense_Mutation_p.S316*	p.S336*	NM_000048	NP_000039	P04424	ARLY_HUMAN			14	1118	+			336					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Nonsense_Mutation	SNP	ENST00000304874.9	37	c.1007C>G	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	c	37	6.342193	0.97489	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	.	.	.	5.26	3.42	0.39159	.	0.349621	0.27442	N	0.019343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	4.1862	0.10398	0.2072:0.6149:0.0:0.1779	.	.	.	.	X	336;310;336;316	.	ENSP00000307188:S336X	S	+	2	0	ASL	65192062	0.723000	0.28027	1.000000	0.80357	0.979000	0.70002	1.151000	0.31651	2.469000	0.83416	0.555000	0.69702	TCA		0.642	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2		NM_000048		14	53	0	0	0	0.003163	0	14	53		
SBDS	51119	broad.mit.edu	37	7	66456253	66456253	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:66456253C>T	ENST00000246868.2	-	4	678	c.495G>A	c.(493-495)atG>atA	p.M165I		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	165					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GTTCTATCTTCATTTTCTCTT	0.368			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													uc003tvm.1		NaN	yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		AML|MDS			0				ovary(1)	1						c.(493-495)ATG>ATA		Shwachman-Bodian-Diamond syndrome protein							85.0	76.0	79.0					7																	66456253		2203	4300	6503	SO:0001583	missense	51119	Shwachman-Diamond_syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66456253C>T	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.495G>A	7.37:g.66456253C>T	ENSP00000246868:p.Met165Ile						p.M165I	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN			4	679	-			165					A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	ENST00000246868.2	37	c.495G>A	CCDS5537.1	.	.	.	.	.	.	.	.	.	.	C	5.423	0.263201	0.10294	.	.	ENSG00000126524	ENST00000246868	D	0.94457	-3.43	5.04	4.13	0.48395	Ribosome maturation protein SBDS, C-terminal (1);	0.103070	0.85682	D	0.000000	T	0.81588	0.4854	N	0.01809	-0.71	0.58432	D	0.999993	B	0.02656	0.0	B	0.10450	0.005	T	0.77501	-0.2564	10	0.02654	T	1	-28.7115	12.7764	0.57451	0.1634:0.8366:0.0:0.0	.	165	Q9Y3A5	SBDS_HUMAN	I	165	ENSP00000246868:M165I	ENSP00000246868:M165I	M	-	3	0	SBDS	66093688	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.143000	0.50608	2.641000	0.89580	0.555000	0.69702	ATG		0.368	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2		NM_016038		25	55	0	0	0	0.00632	0	25	55		
STAG3L4	64940	broad.mit.edu	37	7	66771042	66771042	+	RNA	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:66771042C>G	ENST00000416602.2	+	0	334					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGCTTGTTAACTTTTTCATCT	0.388																																						uc003tvt.3		NaN																	0					0						c.(58-60)ACT>AGT		stromal antigen 3-like 4							175.0	181.0	179.0					7																	66771042		2203	4300	6503			64940							g.chr7:66771042C>G			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66771042C>G						STAG3L4_uc010laj.2_RNA	p.T20S	NM_022906	NP_075057	Q8TBR4	STG34_HUMAN			2	326	+		Lung NSC(55;0.0839)|all_lung(88;0.181)	20					Q9H8W0	Missense_Mutation	SNP	ENST00000416602.2	37	c.59C>G		.	.	.	.	.	.	.	.	.	.	c	9.162	1.018969	0.19355	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	1.37	0.333	0.15943	.	0.199086	0.35013	N	0.003507	T	0.18383	0.0441	.	.	.	0.09310	N	0.999993	P	0.38677	0.642	B	0.24394	0.053	T	0.22173	-1.0224	7	0.87932	D	0	.	5.0386	0.14447	0.0:0.7546:0.0:0.2453	.	20	Q8TBR4	STG34_HUMAN	S	20	.	ENSP00000342950:T20S	T	+	2	0	STAG3L4	66408477	1.000000	0.71417	0.883000	0.34634	0.291000	0.27294	1.360000	0.34125	0.714000	0.32081	0.134000	0.15878	ACT		0.388	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1		NM_022906		40	201	0	0	0	0.009718	0	40	201		
WBSCR22	114049	broad.mit.edu	37	7	73107716	73107716	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:73107716G>T	ENST00000265758.2	+	8	626	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	WBSCR22_ENST00000423497.1_Missense_Mutation_p.D190Y|WBSCR22_ENST00000423166.2_3'UTR	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	190					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				CATGGTGGTAGACTACCCTAA	0.602																																						uc003tyt.2		NaN																	0					0						c.(568-570)GAC>TAC		Williams Beuren syndrome chromosome region 22							42.0	39.0	40.0					7																	73107716		2203	4300	6503	SO:0001583	missense	114049					nucleus	methyltransferase activity	g.chr7:73107716G>T	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.568G>T	7.37:g.73107716G>T	ENSP00000265758:p.Asp190Tyr					WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.D190Y|WBSCR22_uc003tyv.2_Missense_Mutation_p.D152Y|WBSCR22_uc003tyw.1_Missense_Mutation_p.D53Y	p.D190Y	NM_017528	NP_059998	O43709	WBS22_HUMAN			8	626	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	190					A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	c.568G>T	CCDS5557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.89|16.89	3.247456|3.247456	0.59103|0.59103	.|.	.|.	ENSG00000071462|ENSG00000071462	ENST00000265758;ENST00000423497|ENST00000442099	T;T|.	0.68624|.	-0.34;-0.34|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88716|0.88716	0.6512|0.6512	H|H	0.97265|0.97265	3.97|3.97	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.998|.	D|D	0.92118|0.92118	0.5701|0.5701	10|5	0.87932|.	D|.	0|.	-10.68|-10.68	17.5829|17.5829	0.87973|0.87973	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	190;190;190|.	A8K501;C9K060;O43709|.	.;.;WBS22_HUMAN|.	Y|I	190|69	ENSP00000265758:D190Y;ENSP00000401191:D190Y|.	ENSP00000265758:D190Y|.	D|R	+|+	1|2	0|0	WBSCR22|WBSCR22	72745652|72745652	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.003000|0.003000	0.03518|0.03518	9.444000|9.444000	0.97578|0.97578	2.765000|2.765000	0.95021|0.95021	0.591000|0.591000	0.81541|0.81541	GAC|AGA		0.602	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1				7	12	1	0	0.00198382	0.001984	0.00201257	7	12		
POR	5447	broad.mit.edu	37	7	75617097	75617097	+	IGR	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:75617097C>G	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GGCAGCCGCTCTGGTAGTAGT	0.687																																						uc003ued.2		NaN																	0					0						c.(721-723)CAG>CAC		transmembrane protein 120A							19.0	25.0	23.0					7																	75617097		1951	4121	6072	SO:0001628	intergenic_variant	83862					integral to membrane		g.chr7:75617097C>G	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75617097C>G						TMEM120A_uc003uee.2_Missense_Mutation_p.E180Q|TMEM120A_uc003ueb.1_Missense_Mutation_p.Q27H|TMEM120A_uc003uec.2_Missense_Mutation_p.Q145H	p.Q241H	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN			10	827	-			241			Cytoplasmic (Potential).		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.723G>C	CCDS5579.1																																																																																				0.687	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7		NM_000941		3	8	0	0	0	0.009096	0	3	8		
PTPN12	5782	broad.mit.edu	37	7	77247848	77247848	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:77247848G>A	ENST00000248594.6	+	12	1263	c.991G>A	c.(991-993)Gat>Aat	p.D331N	PTPN12_ENST00000435495.2_Missense_Mutation_p.D201N|PTPN12_ENST00000415482.2_Missense_Mutation_p.D212N	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	331					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TGAAAAACAAGATTCTCCTCC	0.348																																						uc003ugh.2		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(991-993)GAT>AAT		protein tyrosine phosphatase, non-receptor type							117.0	120.0	119.0					7																	77247848		2203	4300	6503	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77247848G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.991G>A	7.37:g.77247848G>A	ENSP00000248594:p.Asp331Asn					PTPN12_uc011kgp.1_Missense_Mutation_p.D212N|PTPN12_uc011kgq.1_Missense_Mutation_p.D201N|PTPN12_uc010lds.2_Missense_Mutation_p.D63N	p.D331N	NM_002835	NP_002826	Q05209	PTN12_HUMAN			12	1082	+			331					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.991G>A	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265718	0.95399	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.34275	1.37;1.37;1.37	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	M	0.72894	2.215	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.62478	-0.6846	10	0.52906	T	0.07	.	19.1066	0.93299	0.0:0.0:1.0:0.0	.	331	Q05209	PTN12_HUMAN	N	331;212;212;201	ENSP00000248594:D331N;ENSP00000392429:D212N;ENSP00000397991:D201N	ENSP00000248594:D331N	D	+	1	0	PTPN12	77085784	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.919000	0.87513	2.576000	0.86940	0.467000	0.42956	GAT		0.348	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3				34	99	0	0	0	0.003271	0	34	99		
PHTF2	57157	broad.mit.edu	37	7	77539723	77539723	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:77539723C>G	ENST00000248550.7	+	8	849	c.773C>G	c.(772-774)tCa>tGa	p.S258*	PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000307305.8_Nonsense_Mutation_p.S220*|PHTF2_ENST00000450574.1_Nonsense_Mutation_p.S224*|PHTF2_ENST00000275575.7_Nonsense_Mutation_p.S220*|PHTF2_ENST00000424760.1_Nonsense_Mutation_p.S220*|PHTF2_ENST00000416283.2_Nonsense_Mutation_p.S224*|PHTF2_ENST00000422959.2_Nonsense_Mutation_p.S224*|PHTF2_ENST00000415251.2_Nonsense_Mutation_p.S220*			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTCTTTTTATCAGGGTTTGTA	0.398																																						uc003ugs.3		NaN																	0				ovary(1)	1						c.(772-774)TCA>TGA		putative homeodomain transcription factor 2							75.0	71.0	72.0					7																	77539723		1897	4131	6028	SO:0001587	stop_gained	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77539723C>G	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.773C>G	7.37:g.77539723C>G	ENSP00000248550:p.Ser258*					PHTF2_uc003ugo.3_Nonsense_Mutation_p.S220*|PHTF2_uc003ugp.2_Nonsense_Mutation_p.S220*|PHTF2_uc003ugq.3_Nonsense_Mutation_p.S220*|PHTF2_uc010ldv.2_Nonsense_Mutation_p.S220*|PHTF2_uc003ugr.3_Nonsense_Mutation_p.S224*|PHTF2_uc003ugt.3_Nonsense_Mutation_p.S224*|PHTF2_uc003ugu.3_Nonsense_Mutation_p.S220*|PHTF2_uc003ugv.2_Nonsense_Mutation_p.S83*|PHTF2_uc010ldw.1_Nonsense_Mutation_p.S83*	p.S258*	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN			8	899	+			258					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Nonsense_Mutation	SNP	ENST00000248550.7	37	c.773C>G		.	.	.	.	.	.	.	.	.	.	C	38	6.725668	0.97792	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	5.5	5.5	0.81552	.	0.067054	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-11.4524	19.4005	0.94627	0.0:1.0:0.0:0.0	.	.	.	.	X	224;224;220;220;220;220;224;224;258	.	ENSP00000248550:S258X	S	+	2	0	PHTF2	77377659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.177000	0.77650	2.591000	0.87537	0.655000	0.94253	TCA		0.398	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2		NM_020432		17	21	0	0	0	0.006122	0	17	21		
MAGI2	9863	broad.mit.edu	37	7	78130895	78130895	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:78130895C>G	ENST00000354212.4	-	5	1217	c.964G>C	c.(964-966)Gac>Cac	p.D322H	MAGI2_ENST00000535697.1_Splice_Site_p.D159H|MAGI2_ENST00000536571.1_Splice_Site_p.D154H|MAGI2_ENST00000419488.1_Splice_Site_p.D322H|MAGI2_ENST00000522391.1_Splice_Site_p.D322H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	322	Interaction with DDN.|WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAAACTCACTCAATGAAGTAG	0.388																																						uc003ugx.2		NaN																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(964-966)GAC>CAC		membrane associated guanylate kinase, WW and PDZ							200.0	170.0	180.0					7																	78130895		2203	4300	6503	SO:0001630	splice_region_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78130895C>G	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.965+1G>C	7.37:g.78130895C>G						MAGI2_uc003ugy.2_Missense_Mutation_p.D322H|MAGI2_uc011kgr.1_Missense_Mutation_p.D154H|MAGI2_uc011kgs.1_Missense_Mutation_p.D159H	p.D322H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			5	1218	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	322			WW 1.|Interaction with DDN.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.964G>C	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814259	0.90790	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.96	5.96	0.96718	WW/Rsp5/WWP (5);	0.000000	0.38381	U	0.001709	D	0.92189	0.7523	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.999	D	0.92425	0.5949	10	0.87932	D	0	.	19.4101	0.94667	0.0:1.0:0.0:0.0	.	159;154;322;322	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	H	322;322;322;322;154;159	ENSP00000405766:D322H;ENSP00000346151:D322H;ENSP00000428389:D322H;ENSP00000441584:D154H;ENSP00000441603:D159H	ENSP00000346151:D322H	D	-	1	0	MAGI2	77968831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.832000	0.97577	0.655000	0.94253	GAC		0.388	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3		NM_012301	Missense_Mutation	17	74	0	0	0	0.006122	0	17	74		
PCLO	27445	broad.mit.edu	37	7	82582282	82582282	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:82582282G>C	ENST00000333891.9	-	5	8324	c.7987C>G	c.(7987-7989)Ccc>Gcc	p.P2663A	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.P2663A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGATGTGGGAGCTGCTTGA	0.443																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(7987-7989)CCC>GCC		piccolo isoform 1							77.0	75.0	76.0					7																	82582282		1894	4126	6020	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582282G>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7987C>G	7.37:g.82582282G>C	ENSP00000334319:p.Pro2663Ala					PCLO_uc003uhv.2_Missense_Mutation_p.P2663A|PCLO_uc010lec.2_5'Flank	p.P2663A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	8276	-			2594						Missense_Mutation	SNP	ENST00000333891.9	37	c.7987C>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.782369	0.00634	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.39592	1.37;1.07	5.14	2.29	0.28610	.	.	.	.	.	T	0.36386	0.0965	L	0.59436	1.845	0.19300	N	0.999975	B;B	0.26147	0.143;0.143	B;B	0.23419	0.046;0.046	T	0.36553	-0.9743	9	0.87932	D	0	.	5.3936	0.16257	0.0773:0.1419:0.6335:0.1473	.	2663;2663	Q9Y6V0-5;Q9Y6V0-6	.;.	A	2594;2663;2663	ENSP00000334319:P2663A;ENSP00000388393:P2663A	ENSP00000334319:P2663A	P	-	1	0	PCLO	82420218	0.992000	0.36948	0.001000	0.08648	0.002000	0.02628	2.259000	0.43259	0.183000	0.20059	-0.189000	0.12847	CCC		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		35	24	0	0	0	0.00874	0	35	24		
SEMA3D	223117	broad.mit.edu	37	7	84702367	84702367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:84702367G>A	ENST00000284136.6	-	4	449	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	SEMA3D_ENST00000444867.1_Nonsense_Mutation_p.Q136*	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	136	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTATAGGGCTGAAGTACTCTG	0.348																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NaN																	0				ovary(3)|large_intestine(2)	5						c.(406-408)CAG>TAG		semaphorin 3D precursor							110.0	104.0	106.0					7																	84702367		2203	4300	6503	SO:0001587	stop_gained	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84702367G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.406C>T	7.37:g.84702367G>A	ENSP00000284136:p.Gln136*					SEMA3D_uc010led.2_Nonsense_Mutation_p.Q136*|SEMA3D_uc010lee.1_Nonsense_Mutation_p.Q136*	p.Q136*	NM_152754	NP_689967	O95025	SEM3D_HUMAN			4	446	-			136			Sema.		A6NK46|Q6UW77|Q8NCQ1	Nonsense_Mutation	SNP	ENST00000284136.6	37	c.406C>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	36	5.837864	0.97009	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	.	.	.	5.07	5.07	0.68467	.	0.051802	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	18.448	0.90693	0.0:0.0:1.0:0.0	.	.	.	.	X	136	.	ENSP00000284136:Q136X	Q	-	1	0	SEMA3D	84540303	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.761000	0.91691	2.331000	0.79229	0.557000	0.71058	CAG		0.348	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2		NM_152754		20	61	0	0	0	0.012319	0	20	61		
STEAP4	79689	broad.mit.edu	37	7	87912268	87912268	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:87912268G>C	ENST00000380079.4	-	3	773	c.672C>G	c.(670-672)atC>atG	p.I224M	STEAP4_ENST00000414498.1_Missense_Mutation_p.I224M|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	224					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CATAAGGGTAGATTACGTCTC	0.383																																						uc003ujs.2		NaN																	0					0						c.(670-672)ATC>ATG		tumor necrosis factor, alpha-induced protein 9							91.0	87.0	88.0					7																	87912268		1890	4105	5995	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912268G>C	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.672C>G	7.37:g.87912268G>C	ENSP00000369419:p.Ile224Met					STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.I224M	p.I224M	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			3	777	-	Esophageal squamous(14;0.00802)		224					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.672C>G	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703999	0.30232	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	T;T	0.12255	3.07;2.7	6.08	4.25	0.50352	.	0.130277	0.64402	D	0.000001	T	0.32436	0.0829	M	0.86573	2.825	0.42879	D	0.994166	D;D	0.59767	0.986;0.986	P;P	0.58331	0.837;0.837	T	0.09796	-1.0658	10	0.72032	D	0.01	-12.4257	5.6292	0.17501	0.2178:0.0:0.6342:0.148	.	224;224	C9JS50;Q687X5	.;STEA4_HUMAN	M	224	ENSP00000369419:I224M;ENSP00000394399:I224M	ENSP00000369419:I224M	I	-	3	3	STEAP4	87750204	1.000000	0.71417	0.982000	0.44146	0.100000	0.18952	2.788000	0.47806	0.861000	0.35504	0.591000	0.81541	ATC		0.383	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4		NM_024636		15	75	0	0	0	0.003163	0	15	75		
STEAP2	261729	broad.mit.edu	37	7	89854699	89854699	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:89854699G>C	ENST00000287908.3	+	2	696	c.303G>C	c.(301-303)ctG>ctC	p.L101L	STEAP2_ENST00000394621.2_Silent_p.L101L|STEAP2_ENST00000394622.2_Silent_p.L101L|STEAP2_ENST00000394629.2_Silent_p.L101L|STEAP2_ENST00000394626.1_Silent_p.L101L|STEAP2_ENST00000402625.2_Silent_p.L101L|STEAP2_ENST00000394632.1_Silent_p.L101L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	101					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATACCTCCCTGTGGGACCTGA	0.378																																						uc003ujz.2		NaN																	0				ovary(2)	2						c.(301-303)CTG>CTC		six transmembrane epithelial antigen of the							132.0	129.0	130.0					7																	89854699		2203	4300	6503	SO:0001819	synonymous_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89854699G>C	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.303G>C	7.37:g.89854699G>C						STEAP2_uc003ujy.2_Silent_p.L143L|STEAP2_uc010len.2_Silent_p.L101L|STEAP2_uc003uka.2_Silent_p.L101L|STEAP2_uc003ukb.2_Silent_p.L101L|STEAP2_uc003ukc.2_Silent_p.L101L|STEAP2_uc003ukd.2_Silent_p.L101L	p.L101L	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN			2	696	+	all_hematologic(106;0.112)		101					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	c.303G>C	CCDS5615.1																																																																																				0.378	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4		NM_152999		45	158	0	0	0	0.011902	0	45	158		
CDK14	5218	broad.mit.edu	37	7	90528612	90528612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:90528612G>A	ENST00000380050.3	+	7	777	c.646G>A	c.(646-648)Gat>Aat	p.D216N	CDK14_ENST00000406263.1_Missense_Mutation_p.D170N|CDK14_ENST00000265741.3_Missense_Mutation_p.D198N|CDK14_ENST00000436577.2_Missense_Mutation_p.D87N			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CTAGCACACTGATTTATGTCA	0.363																																					GBM(83;1228 1256 8311 16577 31299)	uc003uky.2		NaN																	0				lung(3)|ovary(1)	4						c.(646-648)GAT>AAT		PFTAIRE protein kinase 1							65.0	66.0	66.0					7																	90528612		2203	4299	6502	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90528612G>A		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.646G>A	7.37:g.90528612G>A	ENSP00000369390:p.Asp216Asn					CDK14_uc003ukz.1_Missense_Mutation_p.D198N|CDK14_uc010les.1_Missense_Mutation_p.D170N|CDK14_uc011khl.1_Missense_Mutation_p.D87N	p.D216N	NM_012395	NP_036527	O94921	CDK14_HUMAN			7	868	+			216			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.646G>A		.	.	.	.	.	.	.	.	.	.	G	24.1	4.488517	0.84854	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	L	0.58428	1.81	0.53688	D	0.999971	D;D;D	0.76494	0.998;0.999;0.994	D;D;D	0.77557	0.99;0.937;0.957	T	0.69401	-0.5155	10	0.87932	D	0	-18.0001	18.2888	0.90122	0.0:0.0:1.0:0.0	.	87;198;216	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	N	216;198;170;87	ENSP00000369390:D216N;ENSP00000265741:D198N;ENSP00000385034:D170N;ENSP00000398936:D87N	ENSP00000265741:D198N	D	+	1	0	CDK14	90366548	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.350000	0.79385	2.632000	0.89209	0.650000	0.86243	GAT		0.363	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5		NM_012395		12	31	0	0	0	0.013537	0	12	31		
FZD1	8321	broad.mit.edu	37	7	90894810	90894810	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:90894810C>T	ENST00000287934.2	+	1	1028	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	205	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGAACAAGTTCGGCTTCCAGT	0.692																																						uc003ula.2		NaN																	0					0						c.(613-615)TTC>TTT		frizzled 1 precursor							47.0	52.0	50.0					7																	90894810		2203	4299	6502	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90894810C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.615C>T	7.37:g.90894810C>T							p.F205F	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1028	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		205			FZ.|Extracellular (Potential).		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.615C>T	CCDS5620.1																																																																																				0.692	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2		NM_003505		13	28	0	0	0	0.001855	0	13	28		
AKAP9	10142	broad.mit.edu	37	7	91630771	91630771	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:91630771G>A	ENST00000359028.2	+	9	1801	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	AKAP9_ENST00000356239.3_Missense_Mutation_p.E514K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E526K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	526	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E514K(1)|p.E526K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAACTCAAGGAAGAACTAGG	0.333			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		large_intestine(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(1540-1542)GAA>AAA		A-kinase anchor protein 9 isoform 2							61.0	68.0	66.0					7																	91630771		2200	4298	6498	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91630771G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1576G>A	7.37:g.91630771G>A	ENSP00000351922:p.Glu526Lys					AKAP9_uc003ule.2_Missense_Mutation_p.E526K|AKAP9_uc003ulf.2_Missense_Mutation_p.E514K|AKAP9_uc003uli.2_Missense_Mutation_p.E139K	p.E514K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1765	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		526			Glu-rich.|Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.1540G>A		.	.	.	.	.	.	.	.	.	.	G	9.541	1.113305	0.20795	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.41065	1.01;1.01;1.01	5.62	3.71	0.42584	.	0.533483	0.15801	N	0.243949	T	0.41213	0.1149	L	0.43152	1.355	0.23577	N	0.997379	B;P;B;P	0.38129	0.361;0.493;0.006;0.619	B;B;B;P	0.44359	0.046;0.099;0.003;0.447	T	0.21245	-1.0251	10	0.32370	T	0.25	.	11.4923	0.50387	0.0724:0.1946:0.733:0.0	.	526;514;514;526	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	K	514;526;526;526;526	ENSP00000348573:E514K;ENSP00000351922:E526K;ENSP00000350813:E526K	ENSP00000348573:E514K	E	+	1	0	AKAP9	91468707	1.000000	0.71417	0.996000	0.52242	0.826000	0.46750	2.852000	0.48310	1.521000	0.48983	0.655000	0.94253	GAA		0.333	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		21	83	0	0	0	0.010504	0	21	83		
AKAP9	10142	broad.mit.edu	37	7	91690664	91690664	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:91690664G>A	ENST00000359028.2	+	24	5953	c.5728G>A	c.(5728-5730)Gaa>Aaa	p.E1910K	AKAP9_ENST00000356239.3_Missense_Mutation_p.E1898K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1910K|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1910	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTGCCAAGAGGAACTTCGAGA	0.483			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(5692-5694)GAA>AAA		A-kinase anchor protein 9 isoform 2							88.0	83.0	85.0					7																	91690664		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91690664G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5728G>A	7.37:g.91690664G>A	ENSP00000351922:p.Glu1910Lys					AKAP9_uc003ulf.2_Missense_Mutation_p.E1898K|AKAP9_uc003uli.2_Missense_Mutation_p.E1521K	p.E1898K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		23	5917	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1910			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5692G>A		.	.	.	.	.	.	.	.	.	.	G	16.31	3.086259	0.55861	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.04406	3.64;3.64;3.63	5.69	5.69	0.88448	.	0.179482	0.26948	N	0.021684	T	0.20373	0.0490	M	0.81497	2.545	0.58432	D	0.999998	P;P;P	0.50369	0.891;0.934;0.934	P;P;P	0.54312	0.564;0.748;0.748	T	0.00052	-1.2190	10	0.87932	D	0	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	1910;1898;1898	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	K	1898;1910;1910;1910;113	ENSP00000348573:E1898K;ENSP00000351922:E1910K;ENSP00000350813:E1910K	ENSP00000265737:E113K	E	+	1	0	AKAP9	91528600	1.000000	0.71417	0.990000	0.47175	0.621000	0.37620	9.055000	0.93873	2.840000	0.97914	0.655000	0.94253	GAA		0.483	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		37	40	0	0	0	0.004289	0	37	40		
SAMD9L	219285	broad.mit.edu	37	7	92762320	92762320	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:92762320G>A	ENST00000318238.4	-	5	4181	c.2965C>T	c.(2965-2967)Cac>Tac	p.H989Y	SAMD9L_ENST00000437805.1_Missense_Mutation_p.H989Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.H989Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	989					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCAGAGGGTGAATGATACGC	0.358																																						uc003umh.1		NaN																	0				ovary(4)	4						c.(2965-2967)CAC>TAC		sterile alpha motif domain containing 9-like							85.0	81.0	82.0					7																	92762320		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92762320G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2965C>T	7.37:g.92762320G>A	ENSP00000326247:p.His989Tyr					SAMD9L_uc003umj.1_Missense_Mutation_p.H989Y|SAMD9L_uc003umi.1_Missense_Mutation_p.H989Y|SAMD9L_uc010lfb.1_Missense_Mutation_p.H989Y|SAMD9L_uc003umk.1_Missense_Mutation_p.H989Y|SAMD9L_uc010lfc.1_Missense_Mutation_p.H989Y|SAMD9L_uc010lfd.1_Missense_Mutation_p.H989Y|SAMD9L_uc011khx.1_Intron	p.H989Y	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4181	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		989					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.2965C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326015	0.41197	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.46819	0.86;0.86;0.86	5.22	5.22	0.72569	.	0.060702	0.64402	D	0.000006	T	0.66406	0.2786	M	0.69823	2.125	0.44771	D	0.99777	D	0.76494	0.999	D	0.69142	0.962	T	0.69150	-0.5221	10	0.87932	D	0	-13.2427	14.591	0.68365	0.0:0.0:0.8535:0.1465	.	989	Q8IVG5	SAM9L_HUMAN	Y	989	ENSP00000326247:H989Y;ENSP00000405760:H989Y;ENSP00000408796:H989Y	ENSP00000326247:H989Y	H	-	1	0	SAMD9L	92600256	1.000000	0.71417	0.998000	0.56505	0.039000	0.13416	7.620000	0.83070	2.716000	0.92895	0.467000	0.42956	CAC		0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1		NM_152703		30	98	0	0	0	0.007291	0	30	98		
PPP1R9A	55607	broad.mit.edu	37	7	94540505	94540505	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:94540505G>A	ENST00000433881.1	+	2	1612	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	PPP1R9A_ENST00000433360.1_Silent_p.Q360Q|PPP1R9A_ENST00000340694.4_Silent_p.Q360Q|PPP1R9A_ENST00000456331.2_Silent_p.Q360Q|PPP1R9A_ENST00000289495.5_Silent_p.Q360Q|PPP1R9A_ENST00000424654.1_Silent_p.Q360Q			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	360					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAAGCAACAGAGGAAAGAAC	0.438										HNSCC(28;0.073)																												uc003unp.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1078-1080)CAG>CAA		protein phosphatase 1, regulatory (inhibitor)							90.0	94.0	92.0					7																	94540505		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540505G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1080G>A	7.37:g.94540505G>A		HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Silent_p.Q360Q|PPP1R9A_uc011kif.1_Silent_p.Q360Q|PPP1R9A_uc003unq.2_Silent_p.Q360Q|PPP1R9A_uc011kig.1_Silent_p.Q360Q	p.Q360Q	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1362	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		360					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.1080G>A	CCDS34683.1																																																																																				0.438	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1		NM_001166160		34	26	0	0	0	0.012213	0	34	26		
TAC1	6863	broad.mit.edu	37	7	97362008	97362008	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:97362008G>A	ENST00000319273.5	+	2	381	c.84G>A	c.(82-84)ctG>ctA	p.L28L	TAC1_ENST00000350485.4_Silent_p.L28L|TAC1_ENST00000346867.4_Silent_p.L28L	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	28					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					ATGATGATCTGAATTACTGGT	0.532																																						uc003uop.3		NaN																	0					0						c.(82-84)CTG>CTA		tachykinin 1 isoform beta precursor	Bacitracin(DB00626)						132.0	120.0	124.0					7																	97362008		2203	4300	6503	SO:0001819	synonymous_variant	6863				detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		g.chr7:97362008G>A	M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.84G>A	7.37:g.97362008G>A						TAC1_uc003uoq.3_Silent_p.L28L|TAC1_uc003uor.3_Silent_p.L28L|TAC1_uc003uos.3_Silent_p.L28L	p.L28L	NM_003182	NP_003173	P20366	TKN1_HUMAN			2	330	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		28					O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Silent	SNP	ENST00000319273.5	37	c.84G>A	CCDS5649.1																																																																																				0.532	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1		NM_003182		25	71	0	0	0	0.00333	0	25	71		
TRRAP	8295	broad.mit.edu	37	7	98528285	98528285	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:98528285C>T	ENST00000359863.4	+	25	3632	c.3423C>T	c.(3421-3423)atC>atT	p.I1141I	TRRAP_ENST00000355540.3_Silent_p.I1141I|TRRAP_ENST00000446306.3_Silent_p.I1140I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1141					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTTCTTACATCGTGGAGCGCC	0.488																																						uc003upp.2		NaN																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(3421-3423)ATC>ATT		transformation/transcription domain-associated							177.0	177.0	177.0					7																	98528285		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98528285C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3423C>T	7.37:g.98528285C>T						TRRAP_uc011kis.1_Silent_p.I1141I|TRRAP_uc003upr.2_Silent_p.I833I	p.I1141I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		25	3632	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1141					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.3423C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	8.595	0.885445	0.17540	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.53	-2.63	0.06133	.	.	.	.	.	T	0.63780	0.2540	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62215	-0.6901	4	.	.	.	.	14.0018	0.64437	0.0:0.3395:0.0:0.6605	.	.	.	.	L	856	.	.	S	+	2	0	TRRAP	98366221	0.004000	0.15560	0.978000	0.43139	0.739000	0.42172	-1.164000	0.03135	-0.468000	0.06922	0.591000	0.81541	TCG		0.488	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496		104	130	0	0	0	0.01441	0	104	130		
TRRAP	8295	broad.mit.edu	37	7	98581886	98581886	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:98581886A>G	ENST00000359863.4	+	60	9414	c.9205A>G	c.(9205-9207)Act>Gct	p.T3069A	TRRAP_ENST00000355540.3_Missense_Mutation_p.T3040A|TRRAP_ENST00000446306.3_Missense_Mutation_p.T3040A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3069	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TACTATTCCAACTGTTCCTAT	0.473																																						uc003upp.2		NaN																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(9205-9207)ACT>GCT		transformation/transcription domain-associated							168.0	156.0	160.0					7																	98581886		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98581886A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9205A>G	7.37:g.98581886A>G	ENSP00000352925:p.Thr3069Ala					TRRAP_uc011kis.1_Missense_Mutation_p.T3040A|TRRAP_uc003upr.2_Missense_Mutation_p.T2757A	p.T3069A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		60	9414	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3069			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9205A>G	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.531799	0.45073	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.68331	-0.32;-0.32	5.26	5.26	0.73747	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	N	0.13098	0.295	0.80722	D	1	B;B;B	0.27416	0.147;0.035;0.178	B;B;B	0.26517	0.026;0.039;0.07	T	0.49214	-0.8963	10	0.33940	T	0.23	.	15.1768	0.72920	1.0:0.0:0.0:0.0	.	3040;2779;3069	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	A	3069;3040;3039	ENSP00000352925:T3069A;ENSP00000347733:T3040A	ENSP00000347733:T3040A	T	+	1	0	TRRAP	98419822	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.220000	0.78008	2.008000	0.58898	0.533000	0.62120	ACT		0.473	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496		38	126	0	0	0	0.00874	0	38	126		
PTCD1	26024	broad.mit.edu	37	7	99021515	99021515	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:99021515C>A	ENST00000292478.4	-	7	2053	c.1803G>T	c.(1801-1803)ctG>ctT	p.L601L	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.L650L|PTCD1_ENST00000555673.1_Silent_p.L650L	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	601					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGGTGTAGTTCAGCTTCCTGA	0.527																																						uc003uqh.2		NaN																	0				ovary(1)	1						c.(1801-1803)CTG>CTT		pentatricopeptide repeat domain 1							200.0	152.0	168.0					7																	99021515		2203	4300	6503	SO:0001819	synonymous_variant	26024							g.chr7:99021515C>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1803G>T	7.37:g.99021515C>A						PTCD1_uc011kiw.1_Silent_p.L650L	p.L601L	NM_015545	NP_056360	O75127	PTCD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	1934	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		601			PPR 9.		Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	37	c.1803G>T	CCDS34691.1																																																																																				0.527	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1		NM_015545		26	71	1	0	7.92952e-12	0.003954	8.28857e-12	26	71		
CPSF4	10898	broad.mit.edu	37	7	99048377	99048377	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:99048377C>T	ENST00000292476.5	+	5	466	c.456C>T	c.(454-456)ctC>ctT	p.L152L	ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000451876.1_Silent_p.L120L|CPSF4_ENST00000441580.1_Silent_p.L99L|CPSF4_ENST00000436336.2_Silent_p.L152L|ATP5J2_ENST00000466753.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	152					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGAATTACCTCGTGGGATTCT	0.617																																						uc003uqj.2		NaN																	0				central_nervous_system(1)	1						c.(454-456)CTC>CTT		cleavage and polyadenylation specific factor 4,							78.0	86.0	84.0					7																	99048377		2203	4300	6503	SO:0001819	synonymous_variant	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99048377C>T		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.456C>T	7.37:g.99048377C>T						PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Silent_p.L152L|CPSF4_uc003uqk.2_Silent_p.L152L|CPSF4_uc011kix.1_Silent_p.L99L	p.L152L	NM_006693	NP_006684	O95639	CPSF4_HUMAN			5	599	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		152			C3H1-type 5.		D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	c.456C>T	CCDS5664.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490216	0.26686	.	.	ENSG00000160917	ENST00000440514	.	.	.	5.54	1.13	0.20643	.	.	.	.	.	T	0.43255	0.1239	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24083	-1.0170	4	.	.	.	-15.7304	2.1825	0.03878	0.102:0.3578:0.2196:0.3206	.	.	.	.	C	34	.	.	R	+	1	0	CPSF4	98886313	0.904000	0.30761	1.000000	0.80357	0.997000	0.91878	-0.054000	0.11826	0.297000	0.22615	0.655000	0.94253	CGT		0.617	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1				20	67	0	0	0	0.012319	0	20	67		
ZNF655	79027	broad.mit.edu	37	7	99170633	99170633	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:99170633A>C	ENST00000394163.2	+	3	1085	c.902A>C	c.(901-903)aAa>aCa	p.K301T	ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000424881.1_Missense_Mutation_p.K336T|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000493277.1_Missense_Mutation_p.K336T|ZNF655_ENST00000252713.4_Missense_Mutation_p.K301T|ZNF655_ENST00000425063.1_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	301					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ACCAGAGCCAAATCTTACAAA	0.393																																						uc003urh.2		NaN																	0				ovary(1)	1						c.(901-903)AAA>ACA		zinc finger protein 655 isoform a							75.0	72.0	73.0					7																	99170633		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170633A>C	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.902A>C	7.37:g.99170633A>C	ENSP00000377718:p.Lys301Thr					ZNF655_uc010lga.2_Missense_Mutation_p.K336T|ZNF655_uc010lgc.2_Missense_Mutation_p.K336T|ZNF655_uc003urj.2_Missense_Mutation_p.K301T|ZNF655_uc003urk.2_Missense_Mutation_p.K138T|ZNF655_uc010lgd.2_Missense_Mutation_p.K138T	p.K301T	NM_138494	NP_612503	Q8N720	ZN655_HUMAN			3	1295	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		301					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.902A>C	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.057013	0.36277	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	4.95	2.64	0.31445	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000247	T	0.42966	0.1226	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	T	0.34378	-0.9831	10	0.87932	D	0	-15.9356	5.9447	0.19211	0.799:0.0:0.201:0.0	.	336;301	Q8N720-3;Q8N720	.;ZN655_HUMAN	T	301;336;336;301	ENSP00000252713:K301T;ENSP00000419135:K336T;ENSP00000393876:K336T;ENSP00000377718:K301T	ENSP00000252713:K301T	K	+	2	0	ZNF655	99008569	0.429000	0.25530	1.000000	0.80357	0.908000	0.53690	1.331000	0.33793	0.975000	0.38392	-0.280000	0.10049	AAA		0.393	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1		NM_138494		22	79	0	0	0	0.014323	0	22	79		
CYP3A7	1551	broad.mit.edu	37	7	99305506	99305506	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:99305506G>C	ENST00000336374.2	-	12	1347	c.1345C>G	c.(1345-1347)Ctc>Gtc	p.L449V		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	449					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ATGTTCACGAGAGCAAACCTC	0.403																																						uc003uru.2		NaN																	0				ovary(1)	1						c.(1345-1347)CTC>GTC		cytochrome P450, family 3, subfamily A,							345.0	303.0	317.0					7																	99305506		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99305506G>C	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1345C>G	7.37:g.99305506G>C	ENSP00000337450:p.Leu449Val					ZNF498_uc003urn.2_RNA|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.L449V	NM_000765	NP_000756	P24462	CP3A7_HUMAN			12	1450	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		449					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.1345C>G	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	g	12.07	1.827919	0.32329	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.68765	-0.35	3.74	2.79	0.32731	.	0.201762	0.43416	D	0.000564	T	0.68696	0.3029	M	0.86028	2.79	0.42286	D	0.992112	B	0.32425	0.371	B	0.39935	0.314	T	0.66492	-0.5910	10	0.54805	T	0.06	.	4.6306	0.12500	0.1274:0.0:0.6173:0.2553	.	449	P24462	CP3A7_HUMAN	V	449	ENSP00000337450:L449V	ENSP00000292414:L449V	L	-	1	0	CYP3A7	99143442	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	3.172000	0.50832	0.565000	0.29255	0.491000	0.48974	CTC		0.403	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1				112	110	0	0	0	0.01441	0	112	110		
PPP1R35	221908	broad.mit.edu	37	7	100033913	100033913	+	Missense_Mutation	SNP	G	G	C	rs574800188		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100033913G>C	ENST00000292330.2	-	1	275	c.85C>G	c.(85-87)Caa>Gaa	p.Q29E	RP11-758P17.3_ENST00000475250.1_RNA|RP11-758P17.2_ENST00000492523.1_RNA|PPP1R35_ENST00000476185.1_5'Flank	NM_145030.2	NP_659467.1	Q8TAP8	PPR35_HUMAN	protein phosphatase 1, regulatory subunit 35	29	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TGCGGGACTTGGGGCTCCGGG	0.726													G|||	1	0.000199681	0.0008	0.0	5008	,	,		7601	0.0		0.0	False		,,,				2504	0.0					uc003uuy.1		NaN																	0				ovary(1)	1						c.(85-87)CAA>GAA		hypothetical protein LOC221908							8.0	11.0	10.0					7																	100033913		1955	4041	5996	SO:0001583	missense	221908							g.chr7:100033913G>C	BC026269	CCDS5694.1	7q22.1	2012-04-17	2011-10-11	2011-10-11	ENSG00000160813	ENSG00000160813		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28320	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 47"""	C7orf47		12477932	Standard	NM_145030		Approved	MGC22793	uc003uuy.1	Q8TAP8	OTTHUMG00000159540	ENST00000292330.2:c.85C>G	7.37:g.100033913G>C	ENSP00000292330:p.Gln29Glu					C7orf47_uc003uux.1_5'UTR	p.Q29E	NM_145030	NP_659467	Q8TAP8	CG047_HUMAN			1	182	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		29			Pro-rich.		A4D2C5	Missense_Mutation	SNP	ENST00000292330.2	37	c.85C>G	CCDS5694.1	.	.	.	.	.	.	.	.	.	.	G	7.999	0.754994	0.15846	.	.	ENSG00000160813	ENST00000292330	.	.	.	4.97	4.01	0.46588	.	0.417057	0.17867	N	0.159306	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21621	-1.0240	9	0.10111	T	0.7	-2.0403	7.432	0.27132	0.1192:0.0:0.8808:0.0	.	29	Q8TAP8	PPR35_HUMAN	E	29	.	ENSP00000292330:Q29E	Q	-	1	0	C7orf47	99871849	0.459000	0.25768	0.570000	0.28473	0.086000	0.17979	2.672000	0.46850	2.585000	0.87301	0.549000	0.68633	CAA		0.726	PPP1R35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356095.2		NM_145030		5	11	0	0	0	0.001168	0	5	11		
LRCH4	4034	broad.mit.edu	37	7	100180050	100180050	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100180050C>T	ENST00000310300.6	-	2	305	c.253G>A	c.(253-255)Gag>Aag	p.E85K	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	85					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACGCCGCCTCGGGCACCTCG	0.647																																						uc003uvj.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(253-255)GAG>AAG		leucine-rich repeats and calponin homology (CH)							50.0	50.0	50.0					7																	100180050		2203	4300	6503	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100180050C>T	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.253G>A	7.37:g.100180050C>T	ENSP00000309689:p.Glu85Lys					LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjx.1_RNA	p.E85K	NM_002319	NP_002310	O75427	LRCH4_HUMAN			2	306	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		85			LRR 2.		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.253G>A	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144201	0.37825	.	.	ENSG00000077454	ENST00000310300	T	0.57436	0.4	4.61	4.61	0.57282	.	0.058094	0.64402	D	0.000003	T	0.58793	0.2147	L	0.40543	1.245	0.80722	D	1	D	0.61080	0.989	P	0.57468	0.821	T	0.59080	-0.7521	10	0.48119	T	0.1	-24.8832	15.3971	0.74805	0.0:1.0:0.0:0.0	.	85	O75427	LRCH4_HUMAN	K	85	ENSP00000309689:E85K	ENSP00000309689:E85K	E	-	1	0	LRCH4	100017986	0.502000	0.26107	0.974000	0.42286	0.915000	0.54546	2.708000	0.47152	2.592000	0.87571	0.650000	0.86243	GAG		0.647	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1		NM_002319		16	23	0	0	0	0.004007	0	16	23		
PCOLCE	5118	broad.mit.edu	37	7	100201832	100201832	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100201832C>T	ENST00000223061.5	+	3	735	c.455C>T	c.(454-456)tCg>tTg	p.S152L	PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	152					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.S152*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGGGCCACCTCGGGCACTGGT	0.736																																						uc003uvo.2		NaN																	1	Substitution - Nonsense(1)		lung(1)		0						c.(454-456)TCG>TTG		procollagen C-endopeptidase enhancer							40.0	46.0	44.0					7																	100201832		2203	4300	6503	SO:0001583	missense	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100201832C>T	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.455C>T	7.37:g.100201832C>T	ENSP00000223061:p.Ser152Leu					uc011kjy.1_5'Flank|PCOLCE_uc011kkb.1_Missense_Mutation_p.S152L|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank	p.S152L	NM_002593	NP_002584	Q15113	PCOC1_HUMAN			3	653	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		152					B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	c.455C>T	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453949	0.26161	.	.	ENSG00000106333	ENST00000223061	T	0.20200	2.09	4.6	2.7	0.31948	.	0.314598	0.29924	N	0.010858	T	0.09247	0.0228	N	0.13098	0.295	0.19575	N	0.999968	B;B	0.11235	0.0;0.004	B;B	0.06405	0.0;0.002	T	0.18272	-1.0342	10	0.27082	T	0.32	-3.2716	2.6723	0.05070	0.1754:0.5253:0.1933:0.106	.	152;152	B4DPJ4;Q15113	.;PCOC1_HUMAN	L	152	ENSP00000223061:S152L	ENSP00000223061:S152L	S	+	2	0	PCOLCE	100039768	0.244000	0.23889	0.762000	0.31397	0.988000	0.76386	0.446000	0.21694	1.160000	0.42584	0.462000	0.41574	TCG		0.736	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1		NM_002593		4	33	0	0	0	0.000602	0	4	33		
ZAN	7455	broad.mit.edu	37	7	100391797	100391797	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100391797C>T	ENST00000348028.3	+	0	8016				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGTGCCAGCTCACGGATCCTG	0.617																																						uc003uwj.2		NaN																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(8041-8043)TCA>TTA		zonadhesin isoform 3							68.0	73.0	71.0					7																	100391797		2047	4211	6258			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100391797C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100391797C>T						ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.S629L	p.S2681L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		45	8207	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2681			VWFC 5.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.8042C>T		.	.	.	.	.	.	.	.	.	.	C	11.57	1.678646	0.29783	.	.	ENSG00000146839	ENST00000546213	T	0.05199	3.48	4.58	3.66	0.41972	von Willebrand factor, type C (1);	.	.	.	.	T	0.07279	0.0184	.	.	.	0.09310	N	1	P;P	0.46784	0.884;0.818	B;B	0.43658	0.426;0.395	T	0.29822	-0.9999	8	0.33940	T	0.23	.	10.2703	0.43479	0.1985:0.8015:0.0:0.0	.	1052;2681	F5GX59;Q9Y493	.;ZAN_HUMAN	L	1052	ENSP00000441117:S1052L	ENSP00000441117:S1052L	S	+	2	0	ZAN	100229733	0.000000	0.05858	0.010000	0.14722	0.003000	0.03518	-0.117000	0.10708	1.177000	0.42855	0.491000	0.48974	TCA		0.617	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386		49	34	0	0	0	0.01441	0	49	34		
SRRT	51593	broad.mit.edu	37	7	100478981	100478981	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100478981C>T	ENST00000347433.4	+	3	356	c.198C>T	c.(196-198)ttC>ttT	p.F66F	SRRT_ENST00000432932.1_Silent_p.F66F|SRRT_ENST00000457580.2_Silent_p.F66F|SRRT_ENST00000388793.4_Silent_p.F66F			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	66	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAGAGCGCTTCTCGCCACCTC	0.597																																						uc003uwy.2		NaN																	0				ovary(2)	2						c.(196-198)TTC>TTT		arsenate resistance protein 2 isoform a							60.0	56.0	57.0					7																	100478981		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100478981C>T		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.198C>T	7.37:g.100478981C>T						SRRT_uc010lhl.1_Silent_p.F66F|SRRT_uc003uxa.2_Silent_p.F66F|SRRT_uc003uwz.2_Silent_p.F66F	p.F66F	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			4	466	+			66			Arg-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.198C>T	CCDS34709.1																																																																																				0.597	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1		NM_015908		23	34	0	0	0	0.004656	0	23	34		
SERPINE1	5054	broad.mit.edu	37	7	100773891	100773891	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100773891G>A	ENST00000223095.4	+	3	618	c.461G>A	c.(460-462)aGa>aAa	p.R154K	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R139K	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	154					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GAGGTGGAGAGAGCCAGATTC	0.527																																						uc003uxt.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(460-462)AGA>AAA		plasminogen activator inhibitor-1 isoform 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						203.0	190.0	194.0					7																	100773891		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100773891G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.461G>A	7.37:g.100773891G>A	ENSP00000223095:p.Arg154Lys					SERPINE1_uc011kkj.1_Missense_Mutation_p.R139K|SERPINE1_uc003uxu.1_5'Flank	p.R154K	NM_000602	NP_000593	P05121	PAI1_HUMAN			3	609	+	Lung NSC(181;0.136)|all_lung(186;0.182)		154					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.461G>A	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914985	0.33815	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	D;D	0.83250	-1.7;-1.7	5.44	3.58	0.41010	Serpin domain (3);	0.215850	0.44097	N	0.000482	T	0.62889	0.2465	N	0.12746	0.255	0.30239	N	0.795168	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.51180	-0.8738	10	0.09843	T	0.71	.	6.9953	0.24779	0.2896:0.0:0.7104:0.0	.	139;154	F8WD53;P05121	.;PAI1_HUMAN	K	154;139;139	ENSP00000223095:R154K;ENSP00000396766:R139K	ENSP00000223095:R154K	R	+	2	0	SERPINE1	100560611	1.000000	0.71417	0.835000	0.33067	0.590000	0.36582	2.573000	0.46007	0.628000	0.30357	0.561000	0.74099	AGA		0.527	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1		NM_000602		120	124	0	0	0	0.01441	0	120	124		
VGF	7425	broad.mit.edu	37	7	100806760	100806760	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100806760G>A	ENST00000249330.2	-	2	1604	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	VGF_ENST00000445482.2_Silent_p.L455L	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	455					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					ACAGCTCAATGAGGCTGTCGA	0.657																																						uc003uxx.3		NaN																	0					0						c.(1363-1365)CTC>CTT		VGF nerve growth factor inducible precursor							69.0	72.0	71.0					7																	100806760		2203	4300	6503	SO:0001819	synonymous_variant	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100806760G>A	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.1365C>T	7.37:g.100806760G>A							p.L455L	NM_003378	NP_003369	O15240	VGF_HUMAN			2	1583	-	Lung NSC(181;0.168)|all_lung(186;0.215)		455					Q9UDW8	Silent	SNP	ENST00000249330.2	37	c.1365C>T	CCDS5712.1																																																																																				0.657	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1		NM_003378		5	10	0	0	0	0.000602	0	5	10		
KMT2E	55904	broad.mit.edu	37	7	104752302	104752302	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:104752302C>G	ENST00000311117.3	+	27	4644	c.4099C>G	c.(4099-4101)Caa>Gaa	p.Q1367E	KMT2E_ENST00000257745.4_Missense_Mutation_p.Q1367E|KMT2E_ENST00000334877.4_Missense_Mutation_p.Q1325E|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334914.7_Missense_Mutation_p.Q422E	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1367					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AATTCCTGCTCAAGCACACGG	0.408																																						uc003vcm.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(4099-4101)CAA>GAA		myeloid/lymphoid or mixed-lineage leukemia 5							100.0	95.0	97.0					7																	104752302		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104752302C>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4099C>G	7.37:g.104752302C>G	ENSP00000312379:p.Gln1367Glu					MLL5_uc010ljc.2_Missense_Mutation_p.Q1367E|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.Q101E	p.Q1367E	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			27	4633	+			1367					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.4099C>G	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182563	0.38511	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.91792	-2.91;-2.62;-2.91;0.84	4.92	4.92	0.64577	.	0.498861	0.18454	N	0.140740	D	0.84202	0.5420	N	0.24115	0.695	0.48236	D	0.999616	B;B	0.31290	0.318;0.03	B;B	0.32762	0.152;0.007	T	0.79420	-0.1811	10	0.07325	T	0.83	.	11.949	0.52944	0.0:0.9196:0.0:0.0804	.	1287;1367	F8W6H1;Q8IZD2	.;MLL5_HUMAN	E	1367;1367;1325;1287;1367;422	ENSP00000312379:Q1367E;ENSP00000335599:Q1325E;ENSP00000257745:Q1367E;ENSP00000333986:Q422E	ENSP00000257745:Q1367E	Q	+	1	0	MLL5	104539538	0.682000	0.27624	0.060000	0.19600	0.703000	0.40648	2.629000	0.46485	2.424000	0.82194	0.650000	0.86243	CAA		0.408	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1				13	60	0	0	0	0.00245	0	13	60		
SRPK2	6733	broad.mit.edu	37	7	104782887	104782887	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:104782887C>T	ENST00000393651.3	-	11	1198	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	SRPK2_ENST00000489828.1_Missense_Mutation_p.E360K|SRPK2_ENST00000357311.3_Missense_Mutation_p.E360K	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCATCTTTTTCAATGTTTTCT	0.393																																						uc003vct.2		NaN																	0				central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1078-1080)GAA>AAA		serine/arginine-rich protein-specific kinase 2							122.0	121.0	121.0					7																	104782887		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104782887C>T	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1111G>A	7.37:g.104782887C>T	ENSP00000377262:p.Glu371Lys					SRPK2_uc003vcu.2_Missense_Mutation_p.E360K|SRPK2_uc003vcv.2_Missense_Mutation_p.E371K|SRPK2_uc003vcw.1_Missense_Mutation_p.E360K	p.E360K	NM_182691	NP_872633	P78362	SRPK2_HUMAN			10	1265	-			360			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.1078G>A	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105068	0.94245	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.22336	1.96;1.96;1.96	5.53	5.53	0.82687	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.288040	0.32273	N	0.006321	T	0.13157	0.0319	N	0.12961	0.28	0.80722	D	1	P;B	0.41848	0.763;0.281	B;B	0.35971	0.215;0.075	T	0.12400	-1.0549	10	0.14656	T	0.56	-17.7892	19.4526	0.94873	0.0:1.0:0.0:0.0	.	371;360	P78362-2;P78362	.;SRPK2_HUMAN	K	371;360;360	ENSP00000377262:E371K;ENSP00000349863:E360K;ENSP00000419791:E360K	ENSP00000349863:E360K	E	-	1	0	SRPK2	104570123	1.000000	0.71417	0.969000	0.41365	0.921000	0.55340	6.722000	0.74735	2.604000	0.88044	0.491000	0.48974	GAA		0.393	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1		NM_182691		33	137	0	0	0	0.012213	0	33	137		
WNT2	7472	broad.mit.edu	37	7	116962989	116962989	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:116962989G>A	ENST00000265441.3	-	1	354	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	19					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCGGGGGTGAGCCAGGTCAAG	0.607																																						uc003viz.2		NaN																	0				breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(55-57)CTC>TTC		wingless-type MMTV integration site family							87.0	85.0	86.0					7																	116962989		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116962989G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.55C>T	7.37:g.116962989G>A	ENSP00000265441:p.Leu19Phe					WNT2_uc003vja.2_5'UTR	p.L19F	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	1	355	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		19					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.55C>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695209	0.48202	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.75821	-0.97;-0.24	4.84	3.9	0.45041	.	1.218780	0.05660	N	0.586773	T	0.57548	0.2061	N	0.12182	0.205	0.29856	N	0.828012	B	0.06786	0.001	B	0.06405	0.002	T	0.47142	-0.9140	10	0.23891	T	0.37	.	8.3113	0.32073	0.0933:0.2321:0.6747:0.0	.	19	P09544	WNT2_HUMAN	F	19	ENSP00000265441:L19F;ENSP00000419466:L19F	ENSP00000265441:L19F	L	-	1	0	WNT2	116750225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.556000	0.36288	2.391000	0.81399	0.561000	0.74099	CTC		0.607	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3		NM_003391		5	25	0	0	0	0.001168	0	5	25		
CPED1	79974	broad.mit.edu	37	7	120767150	120767150	+	Missense_Mutation	SNP	G	G	A	rs368982657		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:120767150G>A	ENST00000310396.5	+	10	1608	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	CPED1_ENST00000450913.2_Missense_Mutation_p.E381K|CPED1_ENST00000423795.1_Missense_Mutation_p.E161K	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	381						endoplasmic reticulum (GO:0005783)											AAAGGTACACGAGCATTTAAA	0.289																																						uc003vjq.3		NaN																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(1141-1143)GAG>AAG		hypothetical protein LOC79974 isoform 1		G	LYS/GLU,LYS/GLU	0,4404		0,0,2202	61.0	66.0	64.0		1141,1141	4.7	0.8	7		64	1,8575	1.2+/-3.3	0,1,4287	no	missense,missense	C7orf58	NM_001105533.1,NM_024913.4	56,56	0,1,6489	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	381/784,381/1027	120767150	1,12979	2202	4288	6490	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120767150G>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1141G>A	7.37:g.120767150G>A	ENSP00000309772:p.Glu381Lys					C7orf58_uc003vjr.1_Missense_Mutation_p.E381K|C7orf58_uc003vjs.3_Missense_Mutation_p.E381K|C7orf58_uc003vjt.3_Missense_Mutation_p.E161K|C7orf58_uc010lkk.1_Missense_Mutation_p.E161K	p.E381K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			10	1588	+	all_neural(327;0.117)		381					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.1141G>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462120	0.43736	0.0	1.17E-4	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.28666	2.19;1.6;1.87;1.87;1.6	4.66	4.66	0.58398	.	0.415067	0.24983	N	0.034051	T	0.47985	0.1475	L	0.61036	1.89	0.80722	D	1	D;D;P	0.71674	0.986;0.998;0.459	P;P;B	0.59761	0.536;0.863;0.03	T	0.40136	-0.9579	10	0.36615	T	0.2	.	15.717	0.77674	0.0:0.0:1.0:0.0	.	161;381;381	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	K	381;381;381;161;161	ENSP00000309772:E381K;ENSP00000398082:E381K;ENSP00000406122:E381K;ENSP00000415573:E161K;ENSP00000391952:E161K	ENSP00000309772:E381K	E	+	1	0	C7orf58	120554386	1.000000	0.71417	0.751000	0.31187	0.252000	0.25951	4.345000	0.59360	2.295000	0.77249	0.467000	0.42956	GAG		0.289	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1		NM_024913		14	61	0	0	0	0.00245	0	14	61		
RNF133	168433	broad.mit.edu	37	7	122337916	122337916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:122337916C>T	ENST00000340112.2	-	1	1294	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	353					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGGTTCTCCTCCACATGGATT	0.408																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NaN																	0				skin(1)	1						c.(1057-1059)GAG>AAG		ring finger protein 133							141.0	133.0	136.0					7																	122337916		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122337916C>T	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.1057G>A	7.37:g.122337916C>T	ENSP00000344489:p.Glu353Lys					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.E353K	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	1293	-			353					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.1057G>A	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	C	2.256	-0.370428	0.05069	.	.	ENSG00000188050	ENST00000340112	T	0.14516	2.5	5.21	3.36	0.38483	.	0.915338	0.08930	U	0.873185	T	0.11067	0.0270	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35943	-0.9768	10	0.31617	T	0.26	.	8.4895	0.33091	0.0:0.5346:0.3796:0.0858	.	353	Q8WVZ7	RN133_HUMAN	K	353	ENSP00000344489:E353K	ENSP00000344489:E353K	E	-	1	0	RNF133	122125152	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.178000	0.16820	0.560000	0.29169	0.561000	0.74099	GAG		0.408	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1		NM_139175		61	135	0	0	0	0.01441	0	61	135		
POT1	25913	broad.mit.edu	37	7	124482960	124482960	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:124482960T>A	ENST00000357628.3	-	13	1662	c.1064A>T	c.(1063-1065)aAa>aTa	p.K355I	POT1_ENST00000393329.1_Missense_Mutation_p.K224I	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	355					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTGAGGAGCTTTTTGTTTCAA	0.353																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2		NaN																	0				central_nervous_system(1)	1						c.(1063-1065)AAA>ATA		protection of telomeres 1 isoform 1							123.0	107.0	113.0					7																	124482960		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124482960T>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1064A>T	7.37:g.124482960T>A	ENSP00000350249:p.Lys355Ile					POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.K224I|POT1_uc003vln.2_RNA	p.K355I	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			13	1665	-			355					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.1064A>T	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948305	0.53186	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	T;T	0.48522	0.81;0.81	5.62	3.14	0.36123	.	0.700149	0.15285	N	0.270480	T	0.40815	0.1132	M	0.62723	1.935	0.22911	N	0.998572	P	0.39903	0.694	B	0.34779	0.189	T	0.33523	-0.9865	10	0.72032	D	0.01	-6.7108	7.0211	0.24914	0.0:0.0751:0.2842:0.6407	.	355	Q9NUX5	POTE1_HUMAN	I	355;224;355;355;354	ENSP00000350249:K355I;ENSP00000377002:K224I	ENSP00000265391:K354I	K	-	2	0	POT1	124270196	0.029000	0.19370	0.923000	0.36655	0.994000	0.84299	0.465000	0.22004	0.365000	0.24400	0.482000	0.46254	AAA		0.353	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1				19	72	0	0	0	0.006122	0	19	72		
GCC1	79571	broad.mit.edu	37	7	127224211	127224211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:127224211C>T	ENST00000321407.2	-	1	1450	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	342					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTACCTTTCTCATTTCCTGCT	0.443																																						uc003vma.2		NaN																	0				ovary(2)	2						c.(1024-1026)ATG>ATA		Golgi coiled-coil protein 1							57.0	57.0	57.0					7																	127224211		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127224211C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1026G>A	7.37:g.127224211C>T	ENSP00000318821:p.Met342Ile						p.M342I	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			1	1444	-			342			Potential.		Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1026G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173493	0.21704	.	.	ENSG00000179562	ENST00000321407	T	0.16597	2.33	5.91	0.142	0.14816	.	0.313069	0.43747	N	0.000536	T	0.10078	0.0247	N	0.22421	0.69	0.32926	D	0.516458	B	0.02656	0.0	B	0.01281	0.0	T	0.14172	-1.0482	10	0.34782	T	0.22	-4.5381	9.5414	0.39255	0.0:0.4433:0.0:0.5567	.	342	Q96CN9	GCC1_HUMAN	I	342	ENSP00000318821:M342I	ENSP00000318821:M342I	M	-	3	0	GCC1	127011447	0.990000	0.36364	0.978000	0.43139	0.948000	0.59901	0.243000	0.18106	-0.271000	0.09272	0.655000	0.94253	ATG		0.443	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3		NM_024523		15	45	0	0	0	0.007413	0	15	45		
FAM71F2	346653	broad.mit.edu	37	7	128317717	128317717	+	Silent	SNP	C	C	A	rs538444441		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:128317717C>A	ENST00000480462.1	+	3	571	c.465C>A	c.(463-465)ctC>ctA	p.L155L	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000378704.3_Silent_p.L146L			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	155										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						ATCTGAAGCTCCACGAAAAAC	0.502																																						uc003vnk.3		NaN																	0					0						c.(463-465)CTC>CTA		hypothetical protein LOC346653 isoform a							60.0	62.0	61.0					7																	128317717		1982	4202	6184	SO:0001819	synonymous_variant	346653							g.chr7:128317717C>A	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.465C>A	7.37:g.128317717C>A						FAM71F2_uc010llm.1_Silent_p.L146L|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	p.L155L	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN			3	571	+			155					Q0VGF6|Q0VGF7|Q86X39	Silent	SNP	ENST00000480462.1	37	c.465C>A	CCDS47701.1																																																																																				0.502	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1				17	39	1	0	1.15919e-05	0.008871	1.18429e-05	17	39		
EXOC4	60412	broad.mit.edu	37	7	132990735	132990735	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:132990735C>T	ENST00000253861.4	+	4	605	c.576C>T	c.(574-576)ctC>ctT	p.L192L	EXOC4_ENST00000539845.1_Silent_p.L91L|EXOC4_ENST00000393161.2_Silent_p.L192L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	192					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACTTGGTTCTCATAGATGAAC	0.488																																						uc003vrk.2		NaN																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(574-576)CTC>CTT		SEC8 protein isoform a							106.0	95.0	98.0					7																	132990735		2203	4300	6503	SO:0001819	synonymous_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132990735C>T	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.576C>T	7.37:g.132990735C>T						EXOC4_uc011kpo.1_Silent_p.L91L|EXOC4_uc003vri.2_Silent_p.L192L|EXOC4_uc003vrj.2_Silent_p.L192L	p.L192L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			4	611	+		Esophageal squamous(399;0.129)	192					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	c.576C>T	CCDS5829.1																																																																																				0.488	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1		NM_021807		15	56	0	0	0	0.003163	0	15	56		
AKR1B1	231	broad.mit.edu	37	7	134135636	134135636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:134135636C>T	ENST00000285930.4	-	3	332	c.253G>A	c.(253-255)Gag>Aag	p.E85K	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	85					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	AGGCCCTTCTCATGGTACGTG	0.562																																						uc003vrp.1		NaN																	0				ovary(3)	3						c.(253-255)GAG>AAG		aldo-keto reductase family 1, member B1	NADH(DB00157)|Sulindac(DB00605)						87.0	65.0	72.0					7																	134135636		2203	4300	6503	SO:0001583	missense	231				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr7:134135636C>T	J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.253G>A	7.37:g.134135636C>T	ENSP00000285930:p.Glu85Lys					AKR1B1_uc003vrq.1_RNA	p.E85K	NM_001628	NP_001619	P15121	ALDR_HUMAN			3	327	-			85					B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	c.253G>A	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447216	0.43429	.	.	ENSG00000085662	ENST00000285930	T	0.10960	2.82	4.94	4.94	0.65067	NADP-dependent oxidoreductase domain (3);	0.193587	0.53938	D	0.000058	T	0.06188	0.0160	N	0.02697	-0.525	0.39908	D	0.973987	B	0.12630	0.006	B	0.14023	0.01	T	0.39583	-0.9607	10	0.45353	T	0.12	.	17.5268	0.87802	0.0:1.0:0.0:0.0	.	85	P15121	ALDR_HUMAN	K	85	ENSP00000285930:E85K	ENSP00000285930:E85K	E	-	1	0	AKR1B1	133786176	0.112000	0.22096	0.998000	0.56505	0.956000	0.61745	1.696000	0.37773	2.448000	0.82819	0.561000	0.74099	GAG		0.562	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2		NM_001628		8	28	0	0	0	0.00308	0	8	28		
WDR91	29062	broad.mit.edu	37	7	134873230	134873230	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:134873230G>A	ENST00000354475.4	-	13	1867	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	WDR91_ENST00000344400.5_Intron|WDR91_ENST00000423565.1_Silent_p.F577F	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	612										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CATCATAGCTGAACTCCACAG	0.587																																						uc003vsp.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(1834-1836)TTC>TTT		WD repeat domain 91							186.0	169.0	175.0					7																	134873230		2203	4300	6503	SO:0001819	synonymous_variant	29062							g.chr7:134873230G>A	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1836C>T	7.37:g.134873230G>A						WDR91_uc010lmq.2_Silent_p.F201F|WDR91_uc010lmr.2_Intron	p.F612F	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			13	1898	-			612			WD 5.		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	37	c.1836C>T	CCDS34758.1																																																																																				0.587	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1		NM_014149		33	104	0	0	0	0.003755	0	33	104		
WDR91	29062	broad.mit.edu	37	7	134873240	134873240	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:134873240G>A	ENST00000354475.4	-	13	1857	c.1826C>T	c.(1825-1827)tCt>tTt	p.S609F	WDR91_ENST00000344400.5_Intron|WDR91_ENST00000423565.1_Missense_Mutation_p.S574F	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	609										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GAACTCCACAGAGTAGACCTC	0.587																																						uc003vsp.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(1825-1827)TCT>TTT		WD repeat domain 91							184.0	167.0	173.0					7																	134873240		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134873240G>A	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1826C>T	7.37:g.134873240G>A	ENSP00000346466:p.Ser609Phe					WDR91_uc010lmq.2_Missense_Mutation_p.S198F|WDR91_uc010lmr.2_Intron	p.S609F	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			13	1888	-			609			WD 5.		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.1826C>T	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912539	0.92178	.	.	ENSG00000105875	ENST00000354475;ENST00000423565	T;T	0.01599	4.74;4.74	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.206021	0.51477	D	0.000094	T	0.06917	0.0176	M	0.62723	1.935	0.80722	D	1	P	0.44241	0.829	P	0.50537	0.643	T	0.01748	-1.1282	10	0.87932	D	0	-24.6471	20.0693	0.97712	0.0:0.0:1.0:0.0	.	609	A4D1P6	WDR91_HUMAN	F	609;574	ENSP00000346466:S609F;ENSP00000392555:S574F	ENSP00000346466:S609F	S	-	2	0	WDR91	134523780	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	7.114000	0.77103	2.758000	0.94735	0.563000	0.77884	TCT		0.587	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1		NM_014149		34	110	0	0	0	0.004878	0	34	110		
CNOT4	4850	broad.mit.edu	37	7	135123034	135123034	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:135123034G>C	ENST00000315544.5	-	2	325	c.46C>G	c.(46-48)Ctt>Gtt	p.L16V	CNOT4_ENST00000451834.1_Missense_Mutation_p.L16V|CNOT4_ENST00000428680.2_Missense_Mutation_p.L16V|CNOT4_ENST00000423368.2_Missense_Mutation_p.L16V|CNOT4_ENST00000541284.1_Missense_Mutation_p.L16V|CNOT4_ENST00000361528.4_Missense_Mutation_p.L16V|CNOT4_ENST00000356162.4_Missense_Mutation_p.L16V|CNOT4_ENST00000414802.1_Missense_Mutation_p.L16V	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	16					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCCATGCAAAGAGGGCACTCC	0.443																																					Ovarian(51;766 1130 5502 35047 50875)	uc003vsv.1		NaN																	0					0						c.(46-48)CTT>GTT		CCR4-NOT transcription complex, subunit 4							78.0	74.0	75.0					7																	135123034		1913	4121	6034	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135123034G>C	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.46C>G	7.37:g.135123034G>C	ENSP00000326731:p.Leu16Val					CNOT4_uc003vss.2_Missense_Mutation_p.L16V|CNOT4_uc011kpz.1_Missense_Mutation_p.L16V|CNOT4_uc003vst.2_Missense_Mutation_p.L16V|CNOT4_uc003vsu.1_Missense_Mutation_p.L16V|CNOT4_uc011kpy.1_Missense_Mutation_p.L16V	p.L16V	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			2	353	-			16	L->A,E: Abolishes interaction with E2 ubiquitin ligases.		RING-type; degenerate.		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.46C>G	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933328	0.92458	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	D;D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	M	0.91612	3.225	0.80722	D	1	D;D;D;D;B;D	0.89917	0.999;1.0;1.0;1.0;0.25;0.996	D;D;D;D;B;D	0.87578	0.998;0.998;0.991;0.994;0.094;0.978	D	0.94818	0.7984	10	0.87932	D	0	-13.9211	20.2181	0.98305	0.0:0.0:1.0:0.0	.	16;16;16;16;16;16	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	V	16	ENSP00000445508:L16V;ENSP00000388491:L16V;ENSP00000406777:L16V;ENSP00000354673:L16V;ENSP00000416532:L16V;ENSP00000348485:L16V;ENSP00000399108:L16V;ENSP00000326731:L16V	ENSP00000262563:L16V	L	-	1	0	CNOT4	134773574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.924000	0.87555	2.785000	0.95823	0.655000	0.94253	CTT		0.443	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_013316		24	22	0	0	0	0.00278	0	24	22		
NUP205	23165	broad.mit.edu	37	7	135329649	135329649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:135329649C>T	ENST00000285968.6	+	40	5592	c.5566C>T	c.(5566-5568)Cag>Tag	p.Q1856*		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1856					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTAGTTGTGTCAGTCTGTGAT	0.383																																						uc003vsw.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(5566-5568)CAG>TAG		nucleoporin 205kDa							127.0	119.0	121.0					7																	135329649		2203	4300	6503	SO:0001587	stop_gained	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135329649C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5566C>T	7.37:g.135329649C>T	ENSP00000285968:p.Gln1856*					NUP205_uc003vsx.2_RNA	p.Q1856*	NM_015135	NP_055950	Q92621	NU205_HUMAN			40	5597	+			1856					A6H8X3|Q86YC1	Nonsense_Mutation	SNP	ENST00000285968.6	37	c.5566C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	c	48	14.335145	0.99790	.	.	ENSG00000155561	ENST00000285968	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-2.0291	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	1856	.	ENSP00000285968:Q1856X	Q	+	1	0	NUP205	134980189	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.137000	0.77295	2.937000	0.99478	0.650000	0.86243	CAG		0.383	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1				29	99	0	0	0	0.00632	0	29	99		
CHRM2	1129	broad.mit.edu	37	7	136700170	136700170	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:136700170C>G	ENST00000445907.2	+	3	1086	c.558C>G	c.(556-558)gtC>gtG	p.V186V	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Silent_p.V186V|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Silent_p.V186V|CHRM2_ENST00000320658.5_Silent_p.V186V|CHRM2_ENST00000397608.3_Silent_p.V186V|CHRM2_ENST00000402486.3_Silent_p.V186V|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	186					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ATGCTGCTGTCACCTTTGGTA	0.488																																						uc003vtf.1		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(556-558)GTC>GTG		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						97.0	88.0	91.0					7																	136700170		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700170C>G		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.558C>G	7.37:g.136700170C>G						CHRM2_uc003vtg.1_Silent_p.V186V|CHRM2_uc003vtj.1_Silent_p.V186V|CHRM2_uc003vtk.1_Silent_p.V186V|CHRM2_uc003vtl.1_Silent_p.V186V|CHRM2_uc003vtm.1_Silent_p.V186V|CHRM2_uc003vti.1_Silent_p.V186V|CHRM2_uc003vto.1_Silent_p.V186V|CHRM2_uc003vtn.1_Silent_p.V186V|uc003vtp.1_Intron	p.V186V	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1181	+			186			Helical; Name=5; (By similarity).		Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.558C>G	CCDS5843.1																																																																																				0.488	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1				57	60	0	0	0	0.01441	0	57	60		
DGKI	9162	broad.mit.edu	37	7	137262020	137262020	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:137262020G>C	ENST00000288490.5	-	17	1709	c.1709C>G	c.(1708-1710)tCt>tGt	p.S570C	DGKI_ENST00000446122.1_Missense_Mutation_p.S570C|DGKI_ENST00000424189.2_Missense_Mutation_p.S570C|DGKI_ENST00000453654.2_Missense_Mutation_p.S270C	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	570					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TAGGAAGTCAGAAAAAGCTGC	0.328																																						uc003vtt.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1708-1710)TCT>TGT		diacylglycerol kinase, iota							37.0	34.0	35.0					7																	137262020		2203	4298	6501	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137262020G>C	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1709C>G	7.37:g.137262020G>C	ENSP00000288490:p.Ser570Cys					DGKI_uc003vtu.2_Missense_Mutation_p.S270C	p.S570C	NM_004717	NP_004708	O75912	DGKI_HUMAN			17	1710	-			570					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1709C>G	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484447	0.84854	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.32515	1.45;1.45;1.45	5.6	5.6	0.85130	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.58991	0.2161	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.61118	-0.7127	10	0.72032	D	0.01	.	17.7632	0.88470	0.0:0.0:1.0:0.0	.	270;570	E9PFX6;O75912	.;DGKI_HUMAN	C	270;518;570;570;570	ENSP00000392161:S270C;ENSP00000288490:S570C;ENSP00000399131:S570C	ENSP00000288490:S570C	S	-	2	0	DGKI	136912560	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.827000	0.92041	2.793000	0.96121	0.563000	0.77884	TCT		0.328	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3		NM_004717		3	26	0	0	0	0.004672	0	3	26		
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139083368	139083368	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:139083368G>A	ENST00000354926.4	+	3	534	c.180G>A	c.(178-180)ctG>ctA	p.L60L	LUC7L2_ENST00000541515.3_Silent_p.L126L|C7orf55-LUC7L2_ENST00000263545.6_Silent_p.L59L|C7orf55-LUC7L2_ENST00000541170.3_Silent_p.L57L	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		GAGAATGTCTGAAAGTCCATG	0.318																																						uc003vux.2		NaN																	0					0						c.(178-180)CTG>CTA		LUC7-like 2							124.0	108.0	113.0					7																	139083368		1803	4078	5881	SO:0001819	synonymous_variant	51631						enzyme binding|metal ion binding	g.chr7:139083368G>A		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.180G>A	7.37:g.139083368G>A						LUC7L2_uc011kqs.1_Silent_p.L57L|LUC7L2_uc011kqt.1_Silent_p.L126L|LUC7L2_uc003vuy.2_Silent_p.L59L|LUC7L2_uc003vuz.1_Silent_p.L7L|LUC7L2_uc003vva.2_Silent_p.L7L	p.L60L	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN			3	554	+	Melanoma(164;0.242)		60						Silent	SNP	ENST00000354926.4	37	c.180G>A	CCDS43656.1																																																																																				0.318	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2				49	52	0	0	0	0.01441	0	49	52		
KDM7A	80853	broad.mit.edu	37	7	139838913	139838913	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:139838913G>T	ENST00000397560.2	-	2	369	c.272C>A	c.(271-273)tCc>tAc	p.S91Y	JHDM1D_ENST00000006967.5_Missense_Mutation_p.S91Y	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		91					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACTCAAGGAGGAACCATGTAA	0.358																																						uc003vvm.2		NaN																	0				ovary(1)	1						c.(271-273)TCC>TAC		jumonji C domain containing histone demethylase							141.0	130.0	134.0					7																	139838913		1896	4129	6025	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139838913G>T																												ENST00000397560.2:c.272C>A	7.37:g.139838913G>T	ENSP00000380692:p.Ser91Tyr						p.S91Y	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			2	276	-	Melanoma(164;0.0142)		91					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.272C>A	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428388	0.83667	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.62941	-0.01;-0.01	4.89	4.89	0.63831	Zinc finger, FYVE/PHD-type (1);	0.106087	0.64402	D	0.000004	T	0.50154	0.1599	N	0.08118	0	0.44780	D	0.997788	D	0.56968	0.978	P	0.46208	0.507	T	0.62996	-0.6735	10	0.87932	D	0	-4.4032	18.4005	0.90514	0.0:0.0:1.0:0.0	.	91	Q6ZMT4	KDM7_HUMAN	Y	91	ENSP00000380692:S91Y;ENSP00000006967:S91Y	ENSP00000006967:S91Y	S	-	2	0	JHDM1D	139485382	1.000000	0.71417	0.847000	0.33407	0.908000	0.53690	7.249000	0.78278	2.412000	0.81896	0.491000	0.48974	TCC		0.358	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1				38	98	1	0	6.03168e-27	0.004878	6.39099e-27	38	98		
RAB19	401409	broad.mit.edu	37	7	140125723	140125723	+	Missense_Mutation	SNP	G	G	C	rs570628599		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:140125723G>C	ENST00000356407.3	+	3	495	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	RAB19_ENST00000275874.5_Missense_Mutation_p.E190Q|RAB19_ENST00000537763.1_Missense_Mutation_p.E143Q			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	143					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CGTCCTGTTCGAGGATGCCTG	0.468																																						uc010lni.2		NaN																	0					0						c.(427-429)GAG>CAG		RAB19, member RAS oncogene family							117.0	122.0	120.0					7																	140125723		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140125723G>C		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.427G>C	7.37:g.140125723G>C	ENSP00000348778:p.Glu143Gln					RAB19_uc011krc.1_Missense_Mutation_p.E143Q	p.E143Q	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN			4	625	+	Melanoma(164;0.0142)		143					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.427G>C	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	G	32	5.108461	0.94292	.	.	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.53	5.53	0.82687	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83109	-0.0124	10	0.40728	T	0.16	.	19.461	0.94916	0.0:0.0:1.0:0.0	.	143	A4D1S5	RAB19_HUMAN	Q	143;190;143;143	ENSP00000420782:E143Q;ENSP00000275874:E190Q;ENSP00000440167:E143Q;ENSP00000348778:E143Q	ENSP00000275874:E190Q	E	+	1	0	RAB19	139772192	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	7.086000	0.76885	2.610000	0.88304	0.561000	0.74099	GAG		0.468	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1				44	132	0	0	0	0.010771	0	44	132		
DENND2A	27147	broad.mit.edu	37	7	140301337	140301337	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:140301337G>A	ENST00000275884.6	-	2	1278	c.861C>T	c.(859-861)atC>atT	p.I287I	DENND2A_ENST00000537639.1_Silent_p.I287I|DENND2A_ENST00000496613.1_Silent_p.I287I|DENND2A_ENST00000492720.1_Silent_p.I287I			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	287					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I287I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCTGAAGCCGATGCCAGGCT	0.572																																						uc010lnj.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(859-861)ATC>ATT		DENN/MADD domain containing 2A							91.0	99.0	96.0					7																	140301337		1981	4156	6137	SO:0001819	synonymous_variant	27147							g.chr7:140301337G>A	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.861C>T	7.37:g.140301337G>A						DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.I287I|DENND2A_uc003vvw.2_Silent_p.I287I|DENND2A_uc003vvx.2_Silent_p.I287I	p.I287I	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			1	1006	-	Melanoma(164;0.00956)		287					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.861C>T	CCDS43659.1																																																																																				0.572	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1		NM_015689		47	105	0	0	0	0.01441	0	47	105		
EPHB6	2051	broad.mit.edu	37	7	142564247	142564247	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:142564247G>A	ENST00000392957.2	+	10	2258	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	EPHB6_ENST00000411471.2_Missense_Mutation_p.V214I|EPHB6_ENST00000442129.1_Missense_Mutation_p.V491I	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	491	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCCCTCTGCTGTCCCTGTGGT	0.607																																						uc011kst.1		NaN																	0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(1471-1473)GTC>ATC		ephrin receptor EphB6 precursor							59.0	58.0	58.0					7																	142564247		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142564247G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1471G>A	7.37:g.142564247G>A	ENSP00000376684:p.Val491Ile					EPHB6_uc011ksu.1_Missense_Mutation_p.V491I|EPHB6_uc003wbs.2_Missense_Mutation_p.V199I|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.V199I|EPHB6_uc003wbv.2_5'Flank	p.V491I	NM_004445	NP_004436	O15197	EPHB6_HUMAN			10	2258	+	Melanoma(164;0.059)		491			Fibronectin type-III 2.|Extracellular (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1471G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106974	0.77096	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.55588	0.51;0.51;0.51	5.04	5.04	0.67666	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.42420	D	0.000701	T	0.59032	0.2164	M	0.63169	1.94	0.54753	D	0.999981	P	0.52692	0.955	P	0.51055	0.657	T	0.58880	-0.7558	10	0.39692	T	0.17	.	13.2677	0.60144	0.08:0.0:0.92:0.0	.	491	O15197	EPHB6_HUMAN	I	491;491;214	ENSP00000376684:V491I;ENSP00000410789:V491I;ENSP00000409061:V214I	ENSP00000376684:V491I	V	+	1	0	EPHB6	142274369	1.000000	0.71417	0.998000	0.56505	0.598000	0.36846	5.341000	0.65964	2.499000	0.84300	0.556000	0.70494	GTC		0.607	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1				11	43	0	0	0	0.010729	0	11	43		
OR2A5	393046	broad.mit.edu	37	7	143747957	143747957	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:143747957C>T	ENST00000408906.2	+	1	497	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L155V(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGTTCCCTTCTGGCCCTGGT	0.532																																						uc011ktw.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(463-465)CTG>TTG		olfactory receptor, family 2, subfamily A,							189.0	196.0	194.0					7																	143747957		2109	4242	6351	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747957C>T	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.463C>T	7.37:g.143747957C>T							p.L155L	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	463	+	Melanoma(164;0.0783)		155			Helical; Name=4; (Potential).		B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.463C>T	CCDS43668.1																																																																																				0.532	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1				62	166	0	0	0	0.01441	0	62	166		
NOBOX	135935	broad.mit.edu	37	7	144101707	144101707	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:144101707G>A	ENST00000467773.1	-	2	151	c.152C>T	c.(151-153)tCt>tTt	p.S51F	NOBOX_ENST00000223140.5_5'Flank|NOBOX_ENST00000483238.1_Missense_Mutation_p.S51F	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	51					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|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)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGAGCTGAAAGAGCCACAGAC	0.577																																						uc011kue.1		NaN																	0				ovary(1)	1						c.(151-153)TCT>TTT		NOBOX oogenesis homeobox							85.0	94.0	91.0					7																	144101707		2007	4168	6175	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144101707G>A			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.152C>T	7.37:g.144101707G>A	ENSP00000419457:p.Ser51Phe						p.S51F	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			2	152	-	Melanoma(164;0.14)		51					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.152C>T		.	.	.	.	.	.	.	.	.	.	G	5.908	0.351597	0.11182	.	.	ENSG00000106410	ENST00000483238;ENST00000467773	D;D	0.94576	-3.31;-3.46	0.748	-0.218	0.13142	.	.	.	.	.	D	0.82999	0.5159	N	0.14661	0.345	0.09310	N	1	P	0.40302	0.712	B	0.23150	0.044	T	0.75728	-0.3216	8	0.87932	D	0	.	.	.	.	.	51	O60393	NOBOX_HUMAN	F	51	ENSP00000419565:S51F;ENSP00000419457:S51F	ENSP00000419457:S51F	S	-	2	0	NOBOX	143732640	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.238000	0.18004	-0.109000	0.12044	-0.266000	0.10368	TCT		0.577	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1		XM_001134420		18	71	0	0	0	0.007413	0	18	71		
ZNF786	136051	broad.mit.edu	37	7	148771522	148771522	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:148771522A>G	ENST00000491431.1	-	3	318	c.254T>C	c.(253-255)gTt>gCt	p.V85A	ZNF786_ENST00000451334.3_Missense_Mutation_p.V48A|ZNF786_ENST00000316286.9_5'UTR	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ATGCATATCAACAGAGGAGCA	0.428																																						uc003wfh.2		NaN																	0				breast(3)|skin(1)	4						c.(253-255)GTT>GCT		zinc finger protein 786							118.0	111.0	113.0					7																	148771522		1887	4105	5992	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148771522A>G	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.254T>C	7.37:g.148771522A>G	ENSP00000417470:p.Val85Ala					ZNF786_uc011kuk.1_Missense_Mutation_p.V48A|ZNF786_uc003wfi.2_5'UTR	p.V85A	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	391	-	Melanoma(164;0.15)		85					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.254T>C	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	A	0.029	-1.347622	0.01266	.	.	ENSG00000197362	ENST00000491431;ENST00000451334	T;T	0.06218	3.33;3.46	4.38	-1.21	0.09524	.	0.711385	0.11602	N	0.547676	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46498	-0.9187	10	0.14656	T	0.56	0.0013	0.1595	0.00102	0.2909:0.1502:0.2575:0.3015	.	85	Q8N393	ZN786_HUMAN	A	85;48	ENSP00000417470:V85A;ENSP00000404984:V48A	ENSP00000404984:V48A	V	-	2	0	ZNF786	148402455	0.028000	0.19301	0.007000	0.13788	0.084000	0.17831	0.531000	0.23052	-0.269000	0.09298	-1.999000	0.00445	GTT		0.428	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1		NM_152411		10	40	0	0	0	0.006214	0	10	40		
AGAP3	116988	broad.mit.edu	37	7	150814758	150814758	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:150814758C>T	ENST00000397238.2	+	5	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F	AGAP3_ENST00000479901.1_Silent_p.F200F|AGAP3_ENST00000335367.3_Silent_p.F380F|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000473312.1_Silent_p.F200F|AGAP3_ENST00000463381.1_5'UTR	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	164	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTTTGTGTTCAGCCTGGAGG	0.552																																						uc003wjg.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(598-600)TTC>TTT		centaurin, gamma 3 isoform a							231.0	242.0	238.0					7																	150814758		2095	4248	6343	SO:0001819	synonymous_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150814758C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.600C>T	7.37:g.150814758C>T						AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Silent_p.F200F|AGAP3_uc010lpy.1_Silent_p.F200F|AGAP3_uc003wjh.1_Silent_p.F380F	p.F200F	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			5	603	+			164			Small GTPase-like.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Silent	SNP	ENST00000397238.2	37	c.600C>T	CCDS43681.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656867	0.29425	.	.	ENSG00000133612	ENST00000469901	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	T	0.71143	0.3305	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71283	-0.4639	4	.	.	.	.	15.9328	0.79679	0.0:1.0:0.0:0.0	.	.	.	.	L	136	.	.	S	+	2	0	AGAP3	150445691	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.884000	0.69729	2.240000	0.73641	0.407000	0.27541	TCA		0.552	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3		NM_031946		40	129	0	0	0	0.00623	0	40	129		
GALNT11	63917	broad.mit.edu	37	7	151818704	151818704	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:151818704C>T	ENST00000434507.1	+	14	2206	c.1769C>T	c.(1768-1770)tCt>tTt	p.S590F	GALNT11_ENST00000430044.2_Missense_Mutation_p.S590F|GALNT11_ENST00000320311.2_Missense_Mutation_p.S590F|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000452146.2_Missense_Mutation_p.S509F			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	590	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CAGAAGGGCTCTGTCGCCATG	0.517																																						uc010lqg.1		NaN																	0					0						c.(1768-1770)TCT>TTT		N-acetylgalactosaminyltransferase 11							129.0	104.0	112.0					7																	151818704		2203	4300	6503	SO:0001583	missense	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151818704C>T	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1769C>T	7.37:g.151818704C>T	ENSP00000416787:p.Ser590Phe					GALNT11_uc011kvm.1_Missense_Mutation_p.S509F|GALNT11_uc003wku.2_Missense_Mutation_p.S590F	p.S590F	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	12	1999	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	590			Lumenal (Potential).|Ricin B-type lectin.		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	c.1769C>T	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	C	2.872	-0.233767	0.05983	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.21	-1.6	0.08426	Ricin B-related lectin (1);Ricin B lectin (3);	0.765327	0.12562	N	0.458119	T	0.18882	0.0453	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.004	T	0.07028	-1.0794	10	0.45353	T	0.12	.	11.4689	0.50257	0.7651:0.1556:0.0:0.0793	.	509;590	B7Z5G5;Q8NCW6	.;GLT11_HUMAN	F	590;509;590;590;590	ENSP00000395122:S590F;ENSP00000393399:S509F;ENSP00000416787:S590F;ENSP00000315835:S590F	ENSP00000315835:S590F	S	+	2	0	GALNT11	151449637	0.913000	0.31002	0.002000	0.10522	0.047000	0.14425	2.634000	0.46528	-0.168000	0.10853	0.549000	0.68633	TCT		0.517	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1		NM_022087		18	41	0	0	0	0.00499	0	18	41		
RNF32	140545	broad.mit.edu	37	7	156437437	156437437	+	Missense_Mutation	SNP	C	C	G	rs138495614		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:156437437C>G	ENST00000405335.1	+	4	669	c.260C>G	c.(259-261)cCg>cGg	p.P87R	RNF32_ENST00000317955.5_Missense_Mutation_p.P87R|RNF32_ENST00000311822.8_Missense_Mutation_p.P87R|RNF32_ENST00000343665.4_Missense_Mutation_p.P87R|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392741.2_Missense_Mutation_p.P87R|RNF32_ENST00000392740.1_Missense_Mutation_p.P87R|RNF32_ENST00000432459.2_Missense_Mutation_p.P87R|RNF32_ENST00000392743.2_Missense_Mutation_p.P87R			Q9H0A6	RNF32_HUMAN	ring finger protein 32	87						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCCAAACCGCCGCCGTTGACT	0.348																																						uc003wmo.2		NaN																	0					0						c.(259-261)CCG>CGG		ring finger protein 32							66.0	70.0	69.0					7																	156437437		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437437C>G		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.260C>G	7.37:g.156437437C>G	ENSP00000385285:p.Pro87Arg					RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.P87R|RNF32_uc003wmp.2_Missense_Mutation_p.P87R|RNF32_uc003wmq.2_Missense_Mutation_p.P87R|RNF32_uc003wmr.2_Missense_Mutation_p.P87R|RNF32_uc003wms.2_Missense_Mutation_p.P87R|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.P87R	p.P87R	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	3	442	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	87					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.260C>G	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	C	8.394	0.840328	0.16891	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665;ENST00000392740	D;D;D;D;D;D;D;T	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;1.95	5.17	4.27	0.50696	.	0.102463	0.64402	D	0.000002	D	0.94984	0.8377	M	0.80746	2.51	0.58432	D	0.999998	D;P;D;P	0.56287	0.968;0.775;0.975;0.478	P;B;P;B	0.58077	0.654;0.407;0.832;0.103	D	0.94755	0.7931	10	0.51188	T	0.08	-9.47	14.9093	0.70743	0.1444:0.8556:0.0:0.0	.	87;87;87;87	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	R	87	ENSP00000385815:P87R;ENSP00000405588:P87R;ENSP00000315950:P87R;ENSP00000385285:P87R;ENSP00000308894:P87R;ENSP00000376499:P87R;ENSP00000376497:P87R;ENSP00000341185:P87R	ENSP00000308894:P87R	P	+	2	0	RNF32	156130198	0.969000	0.33509	0.031000	0.17742	0.026000	0.11368	2.553000	0.45837	1.136000	0.42199	0.655000	0.94253	CCG		0.348	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2		NM_030936		14	51	0	0	0	0.003163	0	14	51		
NOM1	64434	broad.mit.edu	37	7	156743173	156743173	+	Missense_Mutation	SNP	G	G	A	rs151324588		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:156743173G>A	ENST00000275820.3	+	1	757	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	248	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GACACTCCCCGAAAGTGACTT	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15348	0.0		0.0	False		,,,				2504	0.0					uc003wmy.2		NaN																	0					0						c.(742-744)GAA>AAA		nucleolar protein with MIF4G domain 1		G	LYS/GLU	0,4406		0,0,2203	69.0	64.0	66.0		742	4.0	0.0	7	dbSNP_134	66	12,8588	8.4+/-32.0	0,12,4288	yes	missense	NOM1	NM_138400.1	56	0,12,6491	AA,AG,GG		0.1395,0.0,0.0923	benign	248/861	156743173	12,12994	2203	4300	6503	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156743173G>A	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.742G>A	7.37:g.156743173G>A	ENSP00000275820:p.Glu248Lys						p.E248K	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	1	757	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	248			Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.742G>A	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215377	0.58452	0.0	0.001395	ENSG00000146909	ENST00000275820	T	0.12465	2.68	4.01	4.01	0.46588	.	4.486480	0.00871	N	0.002023	T	0.13586	0.0329	L	0.48642	1.525	0.09310	N	0.999999	P	0.43662	0.814	B	0.30943	0.122	T	0.29150	-1.0021	10	0.37606	T	0.19	-9.1917	10.0357	0.42127	0.0:0.2057:0.7943:0.0	.	248	Q5C9Z4	NOM1_HUMAN	K	248	ENSP00000275820:E248K	ENSP00000275820:E248K	E	+	1	0	NOM1	156435934	0.001000	0.12720	0.012000	0.15200	0.602000	0.36980	0.730000	0.26043	2.244000	0.73946	0.650000	0.86243	GAA		0.547	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1		NM_138400		15	58	0	0	0	0.003163	0	15	58		
NOM1	64434	broad.mit.edu	37	7	156754887	156754887	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:156754887G>A	ENST00000275820.3	+	5	1690	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	559	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGAACAATGACATGCGCAA	0.438																																						uc003wmy.2		NaN																	0					0						c.(1675-1677)GAC>AAC		nucleolar protein with MIF4G domain 1							214.0	214.0	214.0					7																	156754887		2203	4300	6503	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156754887G>A	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1675G>A	7.37:g.156754887G>A	ENSP00000275820:p.Asp559Asn					NOM1_uc010lqp.1_Missense_Mutation_p.D8N	p.D559N	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	5	1690	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	559			MIF4G.		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.1675G>A	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811419	0.50527	.	.	ENSG00000146909	ENST00000275820	T	0.18960	2.18	4.52	4.52	0.55395	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	U	0.000000	T	0.18045	0.0433	L	0.35854	1.095	0.80722	D	1	B	0.24132	0.098	B	0.27262	0.078	T	0.04178	-1.0971	10	0.08381	T	0.77	-39.681	17.2978	0.87173	0.0:0.0:1.0:0.0	.	559	Q5C9Z4	NOM1_HUMAN	N	559	ENSP00000275820:D559N	ENSP00000275820:D559N	D	+	1	0	NOM1	156447648	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.044000	0.93805	2.062000	0.61559	0.543000	0.68304	GAC		0.438	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1		NM_138400		86	102	0	0	0	0.01441	0	86	102		
DEFA5	1670	broad.mit.edu	37	8	6914118	6914118	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:6914118C>T	ENST00000330590.2	-	1	138	c.102G>A	c.(100-102)caG>caA	p.Q34Q		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	34					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTTCCCCAGACTGCTTCTGGG	0.537																																						uc003wra.1		NaN																	0					0						c.(100-102)CAG>CAA		defensin, alpha 5 preproprotein							154.0	139.0	144.0					8																	6914118		2203	4300	6503	SO:0001819	synonymous_variant	1670				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6914118C>T	BC069690	CCDS5963.1	8p23.1	2007-02-20			ENSG00000164816	ENSG00000164816		"""Defensins, alpha"""	2764	protein-coding gene	gene with protein product		600472		DEF5		1429669	Standard	NM_021010		Approved	HD-5	uc003wra.1	Q01523	OTTHUMG00000090383	ENST00000330590.2:c.102G>A	8.37:g.6914118C>T							p.Q34Q	NM_021010	NP_066290	Q01523	DEF5_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	142	-			34					A0JDY6|Q3KNV2	Silent	SNP	ENST00000330590.2	37	c.102G>A	CCDS5963.1																																																																																				0.537	DEFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206755.1		NM_021010		33	25	0	0	0	0.012213	0	33	25		
RP1L1	94137	broad.mit.edu	37	8	10465561	10465561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:10465561G>A	ENST00000382483.3	-	4	6270	c.6047C>T	c.(6046-6048)gCc>gTc	p.A2016V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2096	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCTGGCTGGGCCTCCTCTTC	0.607																																						uc003wtc.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(6046-6048)GCC>GTC		retinitis pigmentosa 1-like 1							174.0	194.0	187.0					8																	10465561		2076	4189	6265	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465561G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6047C>T	8.37:g.10465561G>A	ENSP00000371923:p.Ala2016Val						p.A2016V	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6276	-			2016					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6047C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	9.046	0.990894	0.18966	.	.	ENSG00000183638	ENST00000382483	T	0.04454	3.62	1.4	1.4	0.22301	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.44636	-0.9315	9	0.39692	T	0.17	.	4.3205	0.11015	0.1675:0.2355:0.5971:0.0	.	2016	A6NKC6	.	V	2016	ENSP00000371923:A2016V	ENSP00000371923:A2016V	A	-	2	0	RP1L1	10502971	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-0.760000	0.04756	0.652000	0.30806	0.484000	0.47621	GCC		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1				37	57	0	0	0	0.004878	0	37	57		
SOX7	83595	broad.mit.edu	37	8	10583400	10583400	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:10583400G>A	ENST00000304501.1	-	2	1093	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	SOX7_ENST00000553390.1_Missense_Mutation_p.P391S|SOX7_ENST00000554914.1_Missense_Mutation_p.P391S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	339	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGTGGCCAGGAGTGTTCAAA	0.612																																						uc003wtf.2		NaN																	0				breast(1)	1						c.(1015-1017)CCT>TCT		SRY-box 7							90.0	81.0	84.0					8																	10583400		2203	4300	6503	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583400G>A	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.1015C>T	8.37:g.10583400G>A	ENSP00000301921:p.Pro339Ser					SOX7_uc011kwz.1_Missense_Mutation_p.P391S	p.P339S	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	1094	-			339			Sox C-terminal.		B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.1015C>T	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	G	7.216	0.596420	0.13875	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	T;T;T	0.74315	-0.83;-0.83;-0.83	4.64	3.77	0.43336	.	0.263779	0.37483	U	0.002072	T	0.40595	0.1123	N	0.02721	-0.515	0.33131	D	0.543042	P;B	0.34934	0.476;0.008	B;B	0.29267	0.1;0.03	T	0.54984	-0.8211	10	0.05620	T	0.96	.	8.431	0.32757	0.1768:0.0:0.8232:0.0	.	391;339	B4DKV0;Q9BT81	.;SOX7_HUMAN	S	339;391;391	ENSP00000301921:P339S;ENSP00000452017:P391S;ENSP00000451145:P391S	ENSP00000346908:P391S	P	-	1	0	SOX7;CTD-2135J3.4	10620810	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.134000	0.57990	1.160000	0.42584	0.561000	0.74099	CCT		0.612	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1				12	13	0	0	0	0.013537	0	12	13		
MTMR7	9108	broad.mit.edu	37	8	17161949	17161949	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:17161949C>T	ENST00000180173.5	-	12	1466	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	MTMR7_ENST00000521857.1_Missense_Mutation_p.D478N|MTMR7_ENST00000398099.3_Missense_Mutation_p.D69N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	478	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TGGCTGTGATCAGCTCTAAAC	0.418																																						uc003wxm.2		NaN																	0				skin(1)	1						c.(1432-1434)GAT>AAT		myotubularin related protein 7							185.0	158.0	167.0					8																	17161949		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17161949C>T	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1432G>A	8.37:g.17161949C>T	ENSP00000180173:p.Asp478Asn					MTMR7_uc003wxn.2_Missense_Mutation_p.D257N|MTMR7_uc011kya.1_Missense_Mutation_p.D112N|MTMR7_uc011kyb.1_Missense_Mutation_p.D69N	p.D478N	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	12	1671	-			478			Myotubularin phosphatase.		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.1432G>A	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217214	0.39201	.	.	ENSG00000003987	ENST00000180173;ENST00000398099;ENST00000521857	D;D;D	0.89746	-2.56;-2.56;-2.56	5.51	5.51	0.81932	Myotubularin phosphatase domain (1);	.	.	.	.	T	0.73814	0.3635	N	0.04297	-0.235	0.54753	D	0.999986	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.69000	-0.5261	9	0.02654	T	1	.	14.0262	0.64586	0.0:0.9274:0.0:0.0726	.	478;478	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	N	478;69;478	ENSP00000180173:D478N;ENSP00000381171:D69N;ENSP00000429733:D478N	ENSP00000180173:D478N	D	-	1	0	MTMR7	17206320	0.994000	0.37717	0.995000	0.50966	0.993000	0.82548	3.127000	0.50484	2.758000	0.94735	0.655000	0.94253	GAT		0.418	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1		NM_004686		30	28	0	0	0	0.009535	0	30	28		
MTMR7	9108	broad.mit.edu	37	8	17198941	17198941	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:17198941C>A	ENST00000180173.5	-	6	697	c.663G>T	c.(661-663)caG>caT	p.Q221H	MTMR7_ENST00000521857.1_Missense_Mutation_p.Q221H|MTMR7_ENST00000523571.1_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	221	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTGGAGCATCTGCTCGTCCT	0.572																																						uc003wxm.2		NaN																	0				skin(1)	1						c.(661-663)CAG>CAT		myotubularin related protein 7							142.0	92.0	109.0					8																	17198941		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17198941C>A	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.663G>T	8.37:g.17198941C>A	ENSP00000180173:p.Gln221His					MTMR7_uc003wxn.2_5'UTR	p.Q221H	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	6	902	-			221			Myotubularin phosphatase.		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.663G>T	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892595	0.33442	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.92965	-3.14;-3.14	4.94	3.12	0.35913	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	N	0.21508	0.67	0.80722	D	1	B	0.14438	0.01	B	0.23716	0.048	T	0.77566	-0.2540	10	0.27082	T	0.32	.	11.8738	0.52536	0.0:0.8558:0.0:0.1442	.	221	Q9Y216	MTMR7_HUMAN	H	221	ENSP00000180173:Q221H;ENSP00000429733:Q221H	ENSP00000180173:Q221H	Q	-	3	2	MTMR7	17243312	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.483000	0.35497	0.777000	0.33496	0.563000	0.77884	CAG		0.572	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1		NM_004686		14	13	1	0	0.00185496	0.001855	0.00188537	14	13		
FGL1	2267	broad.mit.edu	37	8	17722196	17722196	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:17722196C>T	ENST00000398056.2	-	10	1659	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	FGL1_ENST00000381841.2_Missense_Mutation_p.G282R|FGL1_ENST00000381840.2_Missense_Mutation_p.G282R|FGL1_ENST00000522444.1_Missense_Mutation_p.G282R|FGL1_ENST00000398054.1_Missense_Mutation_p.G282R|FGL1_ENST00000518650.1_Missense_Mutation_p.G282R|FGL1_ENST00000427924.1_Missense_Mutation_p.G282R			Q08830	FGL1_HUMAN	fibrinogen-like 1	282	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CAGACAATCCCATTGTCTGTT	0.403																																						uc003wxx.2		NaN																	0					0						c.(844-846)GGG>AGG		fibrinogen-like 1 precursor							73.0	73.0	73.0					8																	17722196		2203	4300	6503	SO:0001583	missense	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17722196C>T	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.844G>A	8.37:g.17722196C>T	ENSP00000381133:p.Gly282Arg					FGL1_uc003wxy.2_Missense_Mutation_p.G282R|FGL1_uc003wxz.2_Missense_Mutation_p.G281R|FGL1_uc003wya.2_Missense_Mutation_p.G282R|FGL1_uc003wyb.2_Missense_Mutation_p.G282R|FGL1_uc003wyc.2_Missense_Mutation_p.G282R|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Missense_Mutation_p.G332R|FGL1_uc003wyf.2_Missense_Mutation_p.G252R	p.G282R	NM_201553	NP_963847	Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	9	1168	-			282			Fibrinogen C-terminal.		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	c.844G>A	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892388	0.91889	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.58	5.58	0.84498	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96910	0.9666	10	0.87932	D	0	.	19.9662	0.97271	0.0:1.0:0.0:0.0	.	252;282;282	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	R	282;282;252;282;282;282;282;282;282	ENSP00000381133:G282R;ENSP00000429757:G282R;ENSP00000371263:G282R;ENSP00000401952:G282R;ENSP00000381131:G282R;ENSP00000371262:G282R;ENSP00000428430:G282R	ENSP00000221204:G282R	G	-	1	0	FGL1	17766476	1.000000	0.71417	0.979000	0.43373	0.890000	0.51754	7.458000	0.80787	2.793000	0.96121	0.655000	0.94253	GGG		0.403	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1		NM_004467		11	10	0	0	0	0.010729	0	11	10		
PSD3	23362	broad.mit.edu	37	8	18725265	18725265	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:18725265G>C	ENST00000327040.8	-	4	1655	c.1553C>G	c.(1552-1554)tCt>tGt	p.S518C	PSD3_ENST00000440756.2_Missense_Mutation_p.S518C|PSD3_ENST00000523619.1_Missense_Mutation_p.S453C	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	518					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GACGCCACTAGAATAGCCCAT	0.527																																						uc003wza.2		NaN																	0				ovary(3)	3						c.(1552-1554)TCT>TGT		ADP-ribosylation factor guanine nucleotide							163.0	160.0	161.0					8																	18725265		2130	4247	6377	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18725265G>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1553C>G	8.37:g.18725265G>C	ENSP00000324127:p.Ser518Cys						p.S518C	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	4	1656	-			518					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.1553C>G	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906574	0.33628	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.12255	2.71;2.7;2.7	5.28	5.28	0.74379	.	1.741260	0.03301	N	0.188997	T	0.14830	0.0358	L	0.29908	0.895	0.20489	N	0.999892	B	0.13145	0.007	B	0.09377	0.004	T	0.15636	-1.0430	10	0.34782	T	0.22	.	12.4973	0.55935	0.0:0.1682:0.8318:0.0	.	518	E9KL50	.	C	518;518;453	ENSP00000324127:S518C;ENSP00000401704:S518C;ENSP00000430640:S453C	ENSP00000324127:S518C	S	-	2	0	PSD3	18769545	0.069000	0.21087	0.210000	0.23637	0.848000	0.48234	2.052000	0.41316	2.637000	0.89404	0.585000	0.79938	TCT		0.527	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1		NM_015310		21	30	0	0	0	0.008871	0	21	30		
RHOBTB2	23221	broad.mit.edu	37	8	22864615	22864615	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:22864615C>G	ENST00000251822.6	+	5	1394	c.857C>G	c.(856-858)tCc>tGc	p.S286C	RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.S308C|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.S293C	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	286	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ATCTACCTCTCCACCTCTTCC	0.657																																						uc003xcq.2		NaN																	0				ovary(1)|lung(1)	2						c.(856-858)TCC>TGC		Rho-related BTB domain containing 2 isoform 3							107.0	103.0	104.0					8																	22864615		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864615C>G	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.857C>G	8.37:g.22864615C>G	ENSP00000251822:p.Ser286Cys					RHOBTB2_uc003xcp.2_Missense_Mutation_p.S308C|RHOBTB2_uc011kzp.1_Missense_Mutation_p.S293C|uc003xcr.2_RNA	p.S286C	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	1394	+		Prostate(55;0.0513)|Breast(100;0.214)	286			BTB 1.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.857C>G	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642162	0.67244	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.24350	1.86;1.86;1.86	5.34	5.34	0.76211	BTB/POZ-like (2);BTB/POZ fold (2);	0.051202	0.85682	D	0.000000	T	0.40862	0.1134	L	0.48642	1.525	0.58432	D	0.999998	P;P;P	0.49090	0.919;0.919;0.919	P;P;P	0.58077	0.832;0.77;0.832	T	0.03728	-1.1009	10	0.33940	T	0.23	.	17.5929	0.88003	0.0:1.0:0.0:0.0	.	293;286;308	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	C	308;293;286	ENSP00000427926:S308C;ENSP00000429141:S293C;ENSP00000251822:S286C	ENSP00000251822:S286C	S	+	2	0	RHOBTB2	22920560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.806000	0.86020	2.463000	0.83235	0.655000	0.94253	TCC		0.657	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2				26	23	0	0	0	0.00632	0	26	23		
PTK2B	2185	broad.mit.edu	37	8	27301724	27301724	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:27301724C>T	ENST00000397501.1	+	28	2958	c.2150C>T	c.(2149-2151)cCc>cTc	p.P717L	PTK2B_ENST00000544172.1_Splice_Site_p.P717L|PTK2B_ENST00000517339.1_Splice_Site_p.P717L|PTK2B_ENST00000397497.4_Splice_Site_p.P463L|PTK2B_ENST00000338238.4_Splice_Site_p.P717L|PTK2B_ENST00000420218.2_Splice_Site_p.P717L|PTK2B_ENST00000346049.5_Splice_Site_p.P717L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	717	Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCTCTCCAGCCCAGCCGACCT	0.537																																						uc003xfn.1		NaN																	0				lung(3)|ovary(1)|skin(1)	5						c.(2149-2151)CCC>CTC		PTK2B protein tyrosine kinase 2 beta isoform a							128.0	113.0	118.0					8																	27301724		2203	4300	6503	SO:0001630	splice_region_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27301724C>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2149-1C>T	8.37:g.27301724C>T						PTK2B_uc003xfo.1_Missense_Mutation_p.P717L|PTK2B_uc003xfp.1_Missense_Mutation_p.P717L|PTK2B_uc003xfq.1_Missense_Mutation_p.P717L|PTK2B_uc003xfr.1_Missense_Mutation_p.P463L	p.P717L	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	28	2958	+		Ovarian(32;2.72e-05)	717			Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.2150C>T	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405200	0.83230	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	T;T;T;T;T;T;T	0.77750	-1.12;-0.97;-1.12;-1.12;-0.97;-0.97;-1.03	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.79862	0.4519	L	0.36672	1.1	0.80722	D	1	D;P;D	0.55605	0.97;0.867;0.972	P;P;P	0.55615	0.78;0.472;0.778	T	0.81899	-0.0721	10	0.72032	D	0.01	.	16.1335	0.81461	0.0:1.0:0.0:0.0	.	463;717;717	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	L	717;722;717;717;717;717;717;463	ENSP00000380638:P717L;ENSP00000342242:P717L;ENSP00000440926:P717L;ENSP00000332816:P717L;ENSP00000391995:P717L;ENSP00000427931:P717L;ENSP00000380634:P463L	ENSP00000342242:P717L	P	+	2	0	PTK2B	27357641	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.841000	0.62824	2.648000	0.89879	0.655000	0.94253	CCC		0.537	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1		NM_004103	Missense_Mutation	8	10	0	0	0	0.006214	0	8	10		
EPHX2	2053	broad.mit.edu	37	8	27361252	27361252	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:27361252C>T	ENST00000521400.1	+	3	748	c.318C>T	c.(316-318)ctC>ctT	p.L106L	EPHX2_ENST00000518379.1_Silent_p.L106L|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Silent_p.L40L|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000380476.3_Silent_p.L53L	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	106	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		GCCCCATGCTCCAGGCAGCTC	0.507																																						uc003xfu.2		NaN																	0				ovary(1)	1						c.(316-318)CTC>CTT		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						50.0	50.0	50.0					8																	27361252		2203	4300	6503	SO:0001819	synonymous_variant	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27361252C>T	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.318C>T	8.37:g.27361252C>T						EPHX2_uc010lut.1_Silent_p.L106L|EPHX2_uc010luu.2_Silent_p.L106L|EPHX2_uc010luv.2_Silent_p.L40L|EPHX2_uc003xfv.2_Silent_p.L53L|EPHX2_uc010luw.2_Silent_p.L40L|EPHX2_uc011lam.1_5'Flank	p.L106L	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	3	399	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	106			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Silent	SNP	ENST00000521400.1	37	c.318C>T	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	C	0.259	-1.001280	0.02128	.	.	ENSG00000120915	ENST00000521684	.	.	.	5.41	-6.07	0.02158	.	.	.	.	.	T	0.36468	0.0968	.	.	.	0.48511	D	0.999667	.	.	.	.	.	.	T	0.41963	-0.9479	4	.	.	.	-7.0168	2.3358	0.04247	0.1088:0.2979:0.1443:0.4491	.	.	.	.	F	106	.	.	S	+	2	0	EPHX2	27417169	0.034000	0.19679	0.259000	0.24435	0.010000	0.07245	-2.523000	0.00949	-0.709000	0.05008	-0.727000	0.03589	TCC		0.507	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4				7	13	0	0	0	0.00308	0	7	13		
PROSC	11212	broad.mit.edu	37	8	37632915	37632915	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:37632915G>C	ENST00000328195.3	+	6	580	c.513G>C	c.(511-513)aaG>aaC	p.K171N		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	171					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	TAAACGCCAAGTGTCCTAACC	0.488																																						uc003xkh.2		NaN																	0				central_nervous_system(1)	1						c.(511-513)AAG>AAC		proline synthetase co-transcribed homolog	L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)						216.0	209.0	212.0					8																	37632915		2203	4300	6503	SO:0001583	missense	11212						pyridoxal phosphate binding	g.chr8:37632915G>C	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.513G>C	8.37:g.37632915G>C	ENSP00000333551:p.Lys171Asn						p.K171N	NM_007198	NP_009129	O94903	PROSC_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	590	+		Lung NSC(58;0.174)	171					Q6FI94	Missense_Mutation	SNP	ENST00000328195.3	37	c.513G>C	CCDS6096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.871|2.871	-0.233958|-0.233958	0.05983|0.05983	.|.	.|.	ENSG00000147471|ENSG00000147471	ENST00000328195;ENST00000523187;ENST00000523521|ENST00000521494	T;T;T|.	0.44083|.	0.93;0.93;0.93|.	5.8|5.8	2.97|2.97	0.34412|0.34412	Alanine racemase, N-terminal (1);|.	0.545597|.	0.22718|.	N|.	0.056494|.	T|T	0.26412|0.26412	0.0645|0.0645	N|N	0.13043|0.13043	0.29|0.29	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.09377|.	0.004|.	T|T	0.05209|0.05209	-1.0899|-1.0899	10|5	0.07325|.	T|.	0.83|.	-16.0294|-16.0294	2.1956|2.1956	0.03910|0.03910	0.2132:0.1316:0.5107:0.1444|0.2132:0.1316:0.5107:0.1444	.|.	171|.	O94903|.	PROSC_HUMAN|.	N|T	171;119;100|140	ENSP00000333551:K171N;ENSP00000427886:K119N;ENSP00000429425:K100N|.	ENSP00000333551:K171N|.	K|S	+|+	3|2	2|0	PROSC|PROSC	37752073|37752073	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.418000|0.418000	0.31294|0.31294	1.897000|1.897000	0.39799|0.39799	0.338000|0.338000	0.23692|0.23692	-0.150000|-0.150000	0.13652|0.13652	AAG|AGT		0.488	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1		NM_007198		48	76	0	0	0	0.01441	0	48	76		
ASH2L	9070	broad.mit.edu	37	8	37974186	37974186	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:37974186C>T	ENST00000343823.6	+	8	1105	c.796C>T	c.(796-798)Cct>Tct	p.P266S	ASH2L_ENST00000545394.1_Missense_Mutation_p.P127S|ASH2L_ENST00000428278.2_Missense_Mutation_p.P172S|ASH2L_ENST00000521652.1_Missense_Mutation_p.P172S|ASH2L_ENST00000524263.1_3'UTR|ASH2L_ENST00000250635.7_Missense_Mutation_p.P172S	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	266					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TAACATTGGTCCTGCTTATGA	0.353																																						uc003xkt.3		NaN																	0				ovary(1)|lung(1)	2						c.(796-798)CCT>TCT		ash2-like isoform a							101.0	96.0	97.0					8																	37974186		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37974186C>T	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.796C>T	8.37:g.37974186C>T	ENSP00000340896:p.Pro266Ser					ASH2L_uc011lbk.1_Missense_Mutation_p.P127S|ASH2L_uc003xku.3_Missense_Mutation_p.P172S|ASH2L_uc010lwa.2_Missense_Mutation_p.P172S	p.P266S	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN			8	854	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	266					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.796C>T	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153709	0.94645	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.44832	-0.9302	10	0.87932	D	0	.	20.0222	0.97508	0.0:1.0:0.0:0.0	.	172;266	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	S	266;172;127;172;172	ENSP00000340896:P266S;ENSP00000250635:P172S;ENSP00000443606:P127S;ENSP00000395310:P172S;ENSP00000430259:P172S	ENSP00000250635:P172S	P	+	1	0	ASH2L	38093343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.936000	0.75892	2.726000	0.93360	0.655000	0.94253	CCT		0.353	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4		NM_004674		31	43	0	0	0	0.013726	0	31	43		
WHSC1L1	54904	broad.mit.edu	37	8	38148131	38148131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:38148131C>T	ENST00000317025.8	-	17	3497	c.2980G>A	c.(2980-2982)Gac>Aac	p.D994N	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.D945N|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.D994N	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	994	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCCCCCAAGTCATGTTTAAGG	0.473			T	NUP98	AML																																	uc003xli.2		NaN		Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				breast(1)	1						c.(2980-2982)GAC>AAC		WHSC1L1 protein isoform long							124.0	118.0	120.0					8																	38148131		1886	4119	6005	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38148131C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2980G>A	8.37:g.38148131C>T	ENSP00000313983:p.Asp994Asn					WHSC1L1_uc011lbm.1_Missense_Mutation_p.D994N|WHSC1L1_uc010lwe.2_Missense_Mutation_p.D945N	p.D994N	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		17	3498	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	994			PWWP 2.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.2980G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862978	0.91511	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	T;T;T	0.70749	-0.51;-0.51;-0.51	5.79	4.92	0.64577	PWWP (3);	0.258524	0.26418	U	0.024498	T	0.73806	0.3634	L	0.41079	1.255	0.80722	D	1	P;P;P	0.51537	0.946;0.934;0.946	P;P;P	0.54590	0.756;0.642;0.756	T	0.76772	-0.2836	10	0.72032	D	0.01	.	14.8642	0.70401	0.0:0.9314:0.0:0.0686	.	994;945;994	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	N	945;994;931;994	ENSP00000393284:D945N;ENSP00000313983:D994N;ENSP00000434730:D994N	ENSP00000313983:D994N	D	-	1	0	WHSC1L1	38267288	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	4.978000	0.63799	1.466000	0.48025	0.557000	0.71058	GAC		0.473	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3		NM_023034		47	161	0	0	0	0.011902	0	47	161		
C8orf86	389649	broad.mit.edu	37	8	38369913	38369913	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:38369913C>T	ENST00000358138.1	-	3	688	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	C8orf86_ENST00000437935.2_3'UTR	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	222										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						tcttaaacttcagcacacacc	0.537																																						uc003xlx.1		NaN																	0					0						c.(664-666)GAA>AAA		hypothetical protein LOC389649							36.0	38.0	37.0					8																	38369913		2203	4300	6503	SO:0001583	missense	389649							g.chr8:38369913C>T	BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.664G>A	8.37:g.38369913C>T	ENSP00000350856:p.Glu222Lys						p.E222K	NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN			3	689	-			222					A4QPB7	Missense_Mutation	SNP	ENST00000358138.1	37	c.664G>A	CCDS6108.1	.	.	.	.	.	.	.	.	.	.	C	8.059	0.767648	0.15983	.	.	ENSG00000196166	ENST00000358138	T	0.54675	0.56	2.88	-2.2	0.06994	.	.	.	.	.	T	0.27205	0.0667	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.17379	-1.0371	9	0.87932	D	0	.	4.4903	0.11810	0.0:0.5352:0.2055:0.2593	.	222	Q6ZUL3	CH086_HUMAN	K	222	ENSP00000350856:E222K	ENSP00000350856:E222K	E	-	1	0	C8orf86	38489070	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.338000	0.07842	-0.500000	0.06614	0.561000	0.74099	GAA		0.537	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1		NM_207412		10	48	0	0	0	0.006214	0	10	48		
IKBKB	3551	broad.mit.edu	37	8	42129721	42129721	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:42129721C>G	ENST00000520810.1	+	2	289	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	RP11-231D20.2_ENST00000518994.1_RNA|RP11-231D20.2_ENST00000520890.1_RNA|IKBKB_ENST00000522147.1_Missense_Mutation_p.Q35E|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000518983.1_Missense_Mutation_p.Q35E|IKBKB_ENST00000416505.2_Missense_Mutation_p.I7M|RP11-231D20.2_ENST00000523459.1_RNA|IKBKB_ENST00000519735.1_Missense_Mutation_p.Q35E|IKBKB_ENST00000379708.3_Missense_Mutation_p.I7M|RP11-231D20.2_ENST00000518213.1_RNA	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	35	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ATGGCACAATCAGGTAGGCCC	0.607																																						uc003xow.1		NaN																	0				breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(103-105)CAG>GAG		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						74.0	74.0	74.0					8																	42129721		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42129721C>G	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.103C>G	8.37:g.42129721C>G	ENSP00000430684:p.Gln35Glu					IKBKB_uc003xov.2_Missense_Mutation_p.Q35E|IKBKB_uc010lxh.1_Nonsense_Mutation_p.S24*|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.I7M|IKBKB_uc003xox.1_Translation_Start_Site|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Intron|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.I7M	p.Q35E	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		2	280	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	35			Protein kinase.		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.103C>G	CCDS6128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.54|12.54	1.969058|1.969058	0.34754|0.34754	.|.	.|.	ENSG00000104365|ENSG00000104365	ENST00000416505;ENST00000379708|ENST00000520810;ENST00000519735;ENST00000518983;ENST00000522147	T;T|T;T	0.74737|0.64991	-0.87;2.88|-0.13;-0.13	4.84|4.84	2.91|2.91	0.33838|0.33838	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.129536	.|0.53938	.|D	.|0.000053	T|T	0.37348|0.37348	0.1000|0.1000	N|N	0.16307|0.16307	0.4|0.4	0.23754|0.23754	N|N	0.996933|0.996933	B;B|B;B	0.10296|0.02656	0.002;0.003|0.0;0.0	B;B|B;B	0.09377|0.06405	0.004;0.002|0.002;0.001	T|T	0.10291|0.10291	-1.0636|-1.0636	9|10	0.66056|0.11794	D|T	0.02|0.64	.|.	6.9707|6.9707	0.24646|0.24646	0.1951:0.6161:0.1888:0.0|0.1951:0.6161:0.1888:0.0	.|.	7;7|35;35	B4E0U4;B3KRB7|O14920;Q32ND9	.;.|IKKB_HUMAN;.	M|E	7|35	ENSP00000404920:I7M;ENSP00000369030:I7M|ENSP00000430684:Q35E;ENSP00000430483:Q35E	ENSP00000369030:I7M|ENSP00000339151:Q35E	I|Q	+|+	3|1	3|0	IKBKB|IKBKB	42248878|42248878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.182000|2.182000	0.42556|0.42556	2.392000|2.392000	0.81423|0.81423	0.655000|0.655000	0.94253|0.94253	ATC|CAG		0.607	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1				15	56	0	0	0	0.003163	0	15	56		
SPIDR	23514	broad.mit.edu	37	8	48508407	48508407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:48508407G>A	ENST00000297423.4	+	9	1516	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	SPIDR_ENST00000518074.1_Missense_Mutation_p.V318I|SPIDR_ENST00000541342.1_Missense_Mutation_p.V308I|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	378	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											AAGTTGCCCTGTTATTCTGAA	0.388																																						uc003xqd.2		NaN																	0					0						c.(1132-1134)GTT>ATT		hypothetical protein LOC23514							103.0	96.0	98.0					8																	48508407		1836	4092	5928	SO:0001583	missense	23514							g.chr8:48508407G>A	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1132G>A	8.37:g.48508407G>A	ENSP00000297423:p.Val378Ile					KIAA0146_uc011lcz.1_RNA|KIAA0146_uc011lda.1_Missense_Mutation_p.V67I|KIAA0146_uc011ldb.1_Missense_Mutation_p.V378I|KIAA0146_uc010lxs.2_Intron|KIAA0146_uc011ldc.1_Missense_Mutation_p.V308I|KIAA0146_uc011ldd.1_Missense_Mutation_p.V318I|KIAA0146_uc003xqe.2_5'UTR|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.V67I|KIAA0146_uc010lxt.2_Missense_Mutation_p.V67I	p.V378I	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			9	1141	+		Lung NSC(58;0.175)	378					B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.1132G>A	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	G	5.561	0.288321	0.10513	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000524006	.	.	.	5.45	-0.585	0.11698	.	0.947644	0.08829	N	0.887648	T	0.16471	0.0396	N	0.11560	0.145	0.21579	N	0.999639	B;B;B;B	0.21753	0.015;0.015;0.06;0.015	B;B;B;B	0.20184	0.028;0.016;0.028;0.028	T	0.28586	-1.0039	9	0.06099	T	0.92	.	9.5464	0.39284	0.4916:0.0:0.5084:0.0	.	318;308;378;378	B4E0Y6;B4DFV2;B4DEV5;Q14159	.;.;.;K0146_HUMAN	I	378;318;308;67	.	ENSP00000297423:V378I	V	+	1	0	KIAA0146	48670960	1.000000	0.71417	0.994000	0.49952	0.752000	0.42762	1.067000	0.30616	-0.077000	0.12752	-0.140000	0.14226	GTT		0.388	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1		NM_001080394		58	53	0	0	0	0.01441	0	58	53		
ATP6V1H	51606	broad.mit.edu	37	8	54742015	54742015	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:54742015C>T	ENST00000359530.2	-	4	558	c.295G>A	c.(295-297)Gat>Aat	p.D99N	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.D99N|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.D59N|ATP6V1H_ENST00000355221.3_Missense_Mutation_p.D99N	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	99					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TGCAGCATATCATCCACCATA	0.318																																						uc003xrl.2		NaN																	0					0						c.(295-297)GAT>AAT		ATPase, H+ transporting, lysosomal 50/57kDa, V1							139.0	131.0	134.0					8																	54742015		2203	4300	6503	SO:0001583	missense	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54742015C>T	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.295G>A	8.37:g.54742015C>T	ENSP00000352522:p.Asp99Asn					ATP6V1H_uc003xrk.2_Missense_Mutation_p.D59N|ATP6V1H_uc003xrm.2_Missense_Mutation_p.D99N|ATP6V1H_uc003xrn.2_Missense_Mutation_p.D99N|ATP6V1H_uc011ldv.1_Missense_Mutation_p.D19N|ATP6V1H_uc010lyd.2_Missense_Mutation_p.D35N	p.D99N	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		4	447	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	99					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	37	c.295G>A	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346641	0.95807	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774;ENST00000520070;ENST00000521275;ENST00000524234	.	.	.	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81072	-0.1098	9	0.72032	D	0.01	-32.3994	18.9579	0.92665	0.0:1.0:0.0:0.0	.	99;99	Q9UI12-2;Q9UI12	.;VATH_HUMAN	N	99;59;99;99;79;99;99	.	ENSP00000347359:D99N	D	-	1	0	ATP6V1H	54904568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.394000	0.73223	2.781000	0.95711	0.650000	0.86243	GAT		0.318	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1		NM_015941		17	131	0	0	0	0.006122	0	17	131		
LYPLA1	10434	broad.mit.edu	37	8	54965251	54965251	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:54965251G>A	ENST00000316963.3	-	7	619	c.426C>T	c.(424-426)ctC>ctT	p.L142L	LYPLA1_ENST00000522007.1_Intron|LYPLA1_ENST00000343231.6_Silent_p.L126L|LYPLA1_ENST00000519926.1_5'Flank	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	142					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GCCAGCAACTGAGTGCAGTGA	0.458																																						uc003xry.2		NaN																	0				central_nervous_system(1)	1						c.(424-426)CTC>CTT		lysophospholipase 1							72.0	66.0	68.0					8																	54965251		2203	4300	6503	SO:0001819	synonymous_variant	10434				fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity	g.chr8:54965251G>A	AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.426C>T	8.37:g.54965251G>A						LYPLA1_uc011ldx.1_Intron|LYPLA1_uc003xrz.2_Silent_p.L121L	p.L142L	NM_006330	NP_006321	O75608	LYPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)		7	620	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	142					O43202|Q9UQF9	Silent	SNP	ENST00000316963.3	37	c.426C>T	CCDS6157.1																																																																																				0.458	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378238.1				8	46	0	0	0	0.006214	0	8	46		
MRPL15	29088	broad.mit.edu	37	8	55060079	55060079	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:55060079G>A	ENST00000260102.4	+	5	765	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	231					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CAAATTTCCTGAAGCACGACT	0.438																																						uc003xsa.2		NaN																	0					0						c.(691-693)GAA>AAA		mitochondrial ribosomal protein L15 precursor							82.0	76.0	78.0					8																	55060079		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55060079G>A	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.691G>A	8.37:g.55060079G>A	ENSP00000260102:p.Glu231Lys						p.E231K	NM_014175	NP_054894	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		5	754	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	231					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.691G>A	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	6.643	0.487163	0.12641	.	.	ENSG00000137547	ENST00000260102	T	0.63580	-0.05	5.33	4.43	0.53597	.	0.214343	0.50627	D	0.000110	T	0.39963	0.1098	N	0.10945	0.07	0.50467	D	0.999874	B	0.02656	0.0	B	0.04013	0.001	T	0.33085	-0.9882	10	0.05959	T	0.93	-13.3992	15.8042	0.78481	0.0:0.1364:0.8636:0.0	.	231	Q9P015	RM15_HUMAN	K	231	ENSP00000260102:E231K	ENSP00000260102:E231K	E	+	1	0	MRPL15	55222632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.755000	0.47540	1.200000	0.43188	0.650000	0.86243	GAA		0.438	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1		NM_014175		20	121	0	0	0	0.010504	0	20	121		
XKR4	114786	broad.mit.edu	37	8	56015534	56015534	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:56015534C>T	ENST00000327381.6	+	1	586	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	162						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCAAGTGTTCAGCTTCCGCT	0.652																																						uc003xsf.2		NaN																	0				pancreas(2)	2						c.(484-486)TTC>TTT		XK, Kell blood group complex subunit-related							51.0	36.0	41.0					8																	56015534		2200	4299	6499	SO:0001819	synonymous_variant	114786					integral to membrane		g.chr8:56015534C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.486C>T	8.37:g.56015534C>T							p.F162F	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	518	+			162			Helical; (Potential).		Q96PZ8	Silent	SNP	ENST00000327381.6	37	c.486C>T	CCDS34893.1																																																																																				0.652	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2		NM_052898		30	27	0	0	0	0.008361	0	30	27		
XKR4	114786	broad.mit.edu	37	8	56015540	56015540	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:56015540C>T	ENST00000327381.6	+	1	592	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	164						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGTTCAGCTTCCGCTGGTTTG	0.662																																						uc003xsf.2		NaN																	0				pancreas(2)	2						c.(490-492)TTC>TTT		XK, Kell blood group complex subunit-related							49.0	35.0	39.0					8																	56015540		2202	4299	6501	SO:0001819	synonymous_variant	114786					integral to membrane		g.chr8:56015540C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.492C>T	8.37:g.56015540C>T							p.F164F	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	524	+			164			Helical; (Potential).		Q96PZ8	Silent	SNP	ENST00000327381.6	37	c.492C>T	CCDS34893.1																																																																																				0.662	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2		NM_052898		11	40	0	0	0	0.013537	0	11	40		
NSMAF	8439	broad.mit.edu	37	8	59555592	59555592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:59555592C>A	ENST00000038176.3	-	2	312	c.100G>T	c.(100-102)Gaa>Taa	p.E34*	NSMAF_ENST00000427130.2_Nonsense_Mutation_p.E65*	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	34					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CTATGCTGTTCAAAGTAGTAC	0.393																																						uc003xtt.2		NaN																	0				ovary(1)	1						c.(100-102)GAA>TAA		neutral sphingomyelinase (N-SMase) activation							143.0	127.0	132.0					8																	59555592		2203	4300	6503	SO:0001587	stop_gained	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59555592C>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.100G>T	8.37:g.59555592C>A	ENSP00000038176:p.Glu34*					NSMAF_uc011lee.1_Nonsense_Mutation_p.E65*|NSMAF_uc003xtu.2_Nonsense_Mutation_p.E34*	p.E34*	NM_003580	NP_003571	Q92636	FAN_HUMAN			2	314	-		all_lung(136;0.174)|Lung NSC(129;0.2)	34					B4DFB0|E9PCH0|Q8IW26	Nonsense_Mutation	SNP	ENST00000038176.3	37	c.100G>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420281	0.96111	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.613	0.91293	0.0:1.0:0.0:0.0	.	.	.	.	X	34;65	.	.	E	-	1	0	NSMAF	59718146	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.366000	0.66122	2.833000	0.97629	0.585000	0.79938	GAA		0.393	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1		NM_003580		12	101	1	0	3.07112e-06	0.010729	3.14652e-06	12	101		
CYP7B1	9420	broad.mit.edu	37	8	65528701	65528701	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:65528701C>T	ENST00000310193.3	-	3	570	c.397G>A	c.(397-399)Gac>Aac	p.D133N	CYP7B1_ENST00000523954.1_5'Flank	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	133					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCATTCATGTCATGATTTTTT	0.318																																						uc003xvj.2		NaN																	0				ovary(3)	3						c.(397-399)GAC>AAC		cytochrome P450, family 7, subfamily B,							63.0	59.0	60.0					8																	65528701		2203	4300	6503	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65528701C>T	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.397G>A	8.37:g.65528701C>T	ENSP00000310721:p.Asp133Asn						p.D133N	NM_004820	NP_004811	O75881	CP7B1_HUMAN			3	601	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	133					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.397G>A	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	7.318	0.616340	0.14129	.	.	ENSG00000172817	ENST00000310193	T	0.68025	-0.3	5.17	2.26	0.28386	.	0.691265	0.15964	N	0.236126	T	0.45975	0.1369	L	0.28556	0.865	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.18618	-1.0331	9	.	.	.	-27.563	2.0627	0.03596	0.1427:0.5:0.1387:0.2186	.	133	O75881	CP7B1_HUMAN	N	133	ENSP00000310721:D133N	.	D	-	1	0	CYP7B1	65691255	0.000000	0.05858	0.008000	0.14137	0.080000	0.17528	0.041000	0.13927	0.622000	0.30249	0.655000	0.94253	GAC		0.318	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1				19	121	0	0	0	0.008871	0	19	121		
PDE7A	5150	broad.mit.edu	37	8	66631545	66631545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:66631545G>A	ENST00000401827.3	-	13	1872	c.1429C>T	c.(1429-1431)Cag>Tag	p.Q477*	PDE7A_ENST00000379419.4_Nonsense_Mutation_p.Q451*	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	477					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CGATTTTCCTGAGGTAATAAC	0.478																																						uc003xvq.2		NaN																	0					0						c.(1429-1431)CAG>TAG		phosphodiesterase 7A isoform b	Dyphylline(DB00651)|Ketotifen(DB00920)						108.0	103.0	105.0					8																	66631545		2203	4300	6503	SO:0001587	stop_gained	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66631545G>A	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.1429C>T	8.37:g.66631545G>A	ENSP00000385632:p.Gln477*					MTFR1_uc003xvo.1_Intron|PDE7A_uc003xvp.2_Nonsense_Mutation_p.Q451*	p.Q477*	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		13	1441	-			477					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Nonsense_Mutation	SNP	ENST00000401827.3	37	c.1429C>T	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	35	5.571702	0.96553	.	.	ENSG00000205268	ENST00000401827;ENST00000379419	.	.	.	6.06	6.06	0.98353	.	2.116860	0.01303	N	0.010379	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	477;451	.	ENSP00000368730:Q451X	Q	-	1	0	PDE7A	66794099	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.444000	0.90323	2.880000	0.98712	0.650000	0.86243	CAG		0.478	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1				13	87	0	0	0	0.003163	0	13	87		
CRH	1392	broad.mit.edu	37	8	67089335	67089335	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:67089335G>A	ENST00000276571.3	-	2	824	c.378C>T	c.(376-378)ctC>ctT	p.L126L		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	126					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	CGGGGCTGTCGAGCGAGCGCC	0.711											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xvy.1		NaN																	0					0						c.(376-378)CTC>CTT		corticotropin releasing hormone precursor	Corticotropin(DB01285)						12.0	10.0	11.0					8																	67089335		2186	4245	6431	SO:0001819	synonymous_variant	1392				female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr8:67089335G>A		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"""Endogenous ligands"""	2355	protein-coding gene	gene with protein product	"""corticotropin-releasing factor"", ""corticoliberin"""	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.378C>T	8.37:g.67089335G>A			OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1096		p.L126L	NM_000756	NP_000747	P06850	CRF_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	563	-		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	126					B3KQS4	Silent	SNP	ENST00000276571.3	37	c.378C>T	CCDS6188.1																																																																																				0.711	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1		NM_000756		4	5	0	0	0	0.009096	0	4	5		
VCPIP1	80124	broad.mit.edu	37	8	67576939	67576939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:67576939C>T	ENST00000310421.4	-	1	2513	c.2255G>A	c.(2254-2256)cGt>cAt	p.R752H	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	752					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGGACCATCACGAATGGTACT	0.448																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2		NaN																	0				lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(2254-2256)CGT>CAT		valosin containing protein (p97)/p47 complex							184.0	177.0	179.0					8																	67576939		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67576939C>T	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2255G>A	8.37:g.67576939C>T	ENSP00000309031:p.Arg752His					SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	p.R752H	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	2514	-		Lung NSC(129;0.142)|all_lung(136;0.227)	752					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.2255G>A	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168687	0.78339	.	.	ENSG00000175073	ENST00000310421	T	0.32023	1.47	5.77	5.77	0.91146	.	0.068723	0.64402	D	0.000013	T	0.26159	0.0638	L	0.36672	1.1	0.45634	D	0.998563	D	0.57257	0.979	B	0.39068	0.289	T	0.04825	-1.0924	10	0.66056	D	0.02	-11.146	16.257	0.82522	0.0:0.8675:0.1325:0.0	.	752	Q96JH7	VCIP1_HUMAN	H	752	ENSP00000309031:R752H	ENSP00000309031:R752H	R	-	2	0	VCPIP1	67739493	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.629000	0.54266	2.704000	0.92352	0.655000	0.94253	CGT		0.448	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1				37	175	0	0	0	0.004289	0	37	175		
VCPIP1	80124	broad.mit.edu	37	8	67577466	67577466	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:67577466G>A	ENST00000310421.4	-	1	1986	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	576					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAAAGTGTTTGAATCCACAAC	0.433																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2		NaN																	0				lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(1726-1728)TTC>TTT		valosin containing protein (p97)/p47 complex							131.0	116.0	121.0					8																	67577466		2203	4300	6503	SO:0001819	synonymous_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577466G>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1728C>T	8.37:g.67577466G>A						SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	p.F576F	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1987	-		Lung NSC(129;0.142)|all_lung(136;0.227)	576					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	c.1728C>T	CCDS6192.1																																																																																				0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1				59	261	0	0	0	0.01441	0	59	261		
COPS5	10987	broad.mit.edu	37	8	67976635	67976635	+	5'Flank	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:67976635T>C	ENST00000357849.4	-	0	0				COPS5_ENST00000519963.1_Intron|CSPP1_ENST00000262210.5_Start_Codon_SNP_p.M1T|CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000517736.1_Intron	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5						cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGGTCTGTCATGCTGTTCCCG	0.721											OREG0018811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xxi.2		NaN																	0				ovary(3)|breast(2)	5						c.(1-3)ATG>ACG		centrosome spindle pole associated protein 1							32.0	39.0	37.0					8																	67976635		1982	4151	6133	SO:0001631	upstream_gene_variant	79848					centrosome|microtubule|spindle		g.chr8:67976635T>C	U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"""			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563		8.37:g.67976635T>C	Exception_encountered		OREG0018811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1103	CSPP1_uc003xxg.1_Missense_Mutation_p.M1T|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.M1T|COPS5_uc003xxd.2_5'Flank|COPS5_uc003xxe.2_5'Flank|COPS5_uc003xxf.2_5'Flank|COPS5_uc010lyv.1_5'Flank	p.M1T	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		1	33	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1					O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	ENST00000357849.4	37	c.2T>C	CCDS6198.1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.372061	0.24857	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.33438	1.41	3.34	0.261	0.15592	.	.	.	.	.	T	0.19725	0.0474	.	.	.	0.23607	N	0.997305	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27331	-1.0077	8	0.87932	D	0	.	3.3036	0.06992	0.0:0.5051:0.2181:0.2768	.	1;1;1	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	T	1	ENSP00000262210:M1T	ENSP00000262210:M1T	M	+	2	0	CSPP1	68139189	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.481000	0.06552	0.030000	0.15379	-0.232000	0.12228	ATG		0.721	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2				4	16	0	0	0	0.000602	0	4	16		
CPA6	57094	broad.mit.edu	37	8	68421789	68421789	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:68421789C>T	ENST00000297770.4	-	5	712	c.497G>A	c.(496-498)gGa>gAa	p.G166E	CPA6_ENST00000518549.1_Missense_Mutation_p.G166E|CPA6_ENST00000297769.4_Missense_Mutation_p.G18E	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	166						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATATGATCTTCCAATAGAGAA	0.299																																						uc003xxq.3		NaN																	0				ovary(2)	2						c.(496-498)GGA>GAA		carboxypeptidase A6 isoform 1 precursor							72.0	72.0	72.0					8																	68421789		2203	4296	6499	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68421789C>T	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.497G>A	8.37:g.68421789C>T	ENSP00000297770:p.Gly166Glu					CPA6_uc003xxr.3_Missense_Mutation_p.G18E|CPA6_uc003xxs.2_Missense_Mutation_p.G166E	p.G166E	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		5	753	-			166					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.497G>A	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759922	0.89932	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.27104	1.69;1.69;1.69	5.49	5.49	0.81192	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.67515	0.2901	H	0.97158	3.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79636	-0.1721	10	0.87932	D	0	.	18.9697	0.92709	0.0:1.0:0.0:0.0	.	166;18;166	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	E	18;166;166	ENSP00000297769:G18E;ENSP00000297770:G166E;ENSP00000431112:G166E	ENSP00000297769:G18E	G	-	2	0	CPA6	68584343	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.533000	0.73829	2.582000	0.87167	0.650000	0.86243	GGA		0.299	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2		NM_020361		29	147	0	0	0	0.010818	0	29	147		
PRDM14	63978	broad.mit.edu	37	8	70978524	70978524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:70978524G>A	ENST00000276594.2	-	5	1330	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	377					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGGCTCACAGGAATATCCAGA	0.512																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NaN																	0				ovary(3)	3						c.(1129-1131)CCT>TCT		PR domain containing 14							73.0	76.0	75.0					8																	70978524		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70978524G>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1129C>T	8.37:g.70978524G>A	ENSP00000276594:p.Pro377Ser						p.P377S	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		5	1331	-	Breast(64;0.193)		377					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1129C>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928318	0.73327	.	.	ENSG00000147596	ENST00000276594	T	0.14640	2.49	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.26846	0.0657	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02042	-1.1224	10	0.31617	T	0.26	-22.6774	19.3101	0.94184	0.0:0.0:1.0:0.0	.	377	Q9GZV8	PRD14_HUMAN	S	377	ENSP00000276594:P377S	ENSP00000276594:P377S	P	-	1	0	PRDM14	71141078	1.000000	0.71417	0.974000	0.42286	0.393000	0.30537	9.467000	0.97671	2.560000	0.86352	0.561000	0.74099	CCT		0.512	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1				20	112	0	0	0	0.010504	0	20	112		
RPL7	6129	broad.mit.edu	37	8	74205835	74205835	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:74205835C>T	ENST00000352983.2	-	1	298	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	RPL7_ENST00000396465.1_Intron|RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396466.1_Intron|RDH10_ENST00000240285.5_5'Flank			P18124	RL7_HUMAN	ribosomal protein L7	5					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			GCAACTCACTCTACACCCTCC	0.502																																						uc003xzg.2		NaN																	0					0						c.(13-15)GAA>AAA		ribosomal protein L7							90.0	76.0	81.0					8																	74205835		2203	4300	6503	SO:0001630	splice_region_variant	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74205835C>T	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.14+1G>A	8.37:g.74205835C>T						RPL7_uc003xzh.1_Intron|RDH10_uc003xzi.2_5'Flank	p.E5K	NM_000971	NP_000962	P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		1	35	-	Breast(64;0.0954)		5					A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	c.13G>A	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420502	0.25639	.	.	ENSG00000147604	ENST00000352983	.	.	.	5.37	3.5	0.40072	.	.	.	.	.	T	0.40956	0.1138	N	0.16478	0.41	0.80722	D	1	B	0.16396	0.017	B	0.08055	0.003	T	0.09574	-1.0668	8	0.22109	T	0.4	.	15.331	0.74212	0.0:0.7254:0.2746:0.0	.	5	P18124	RL7_HUMAN	K	5	.	ENSP00000339795:E5K	E	-	1	0	RPL7	74368389	0.762000	0.28451	0.212000	0.23672	0.001000	0.01503	1.185000	0.32065	0.581000	0.29539	0.655000	0.94253	GAA		0.502	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1		NM_000971	Missense_Mutation	5	28	0	0	0	0.000602	0	5	28		
ZNF704	619279	broad.mit.edu	37	8	81582772	81582772	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:81582772C>T	ENST00000327835.3	-	5	856	c.625G>A	c.(625-627)Ggt>Agt	p.G209S	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	209							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TTCTGGATACCTGCTGCAGTG	0.507																																						uc003yby.1		NaN																	0					0						c.(625-627)GGT>AGT		zinc finger protein 704							184.0	149.0	161.0					8																	81582772		2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81582772C>T	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.625G>A	8.37:g.81582772C>T	ENSP00000331462:p.Gly209Ser						p.G209S	NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		5	857	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		209			C2H2-type.		B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.625G>A	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	C	36	5.849133	0.97023	.	.	ENSG00000164684	ENST00000327835	T	0.58652	0.32	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79741	-0.1676	10	0.66056	D	0.02	-22.9363	19.7096	0.96089	0.0:1.0:0.0:0.0	.	209	Q6ZNC4	ZN704_HUMAN	S	209	ENSP00000331462:G209S	ENSP00000331462:G209S	G	-	1	0	ZNF704	81745327	1.000000	0.71417	0.407000	0.26434	0.993000	0.82548	7.711000	0.84669	2.652000	0.90054	0.655000	0.94253	GGT		0.507	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2		NM_001033723		28	161	0	0	0	0.007291	0	28	161		
SLC10A5	347051	broad.mit.edu	37	8	82606862	82606862	+	Missense_Mutation	SNP	C	C	T	rs148561963		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:82606862C>T	ENST00000518568.1	-	1	1547	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	116						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						TTGATTTCTTCAATGAGTCTT	0.363																																						uc011lfs.1		NaN																	0					0						c.(346-348)GAA>AAA		solute carrier family 10 (sodium/bile acid		C	LYS/GLU	0,4406		0,0,2203	142.0	132.0	135.0		346	3.4	1.0	8	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC10A5	NM_001010893.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	116/439	82606862	1,13005	2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606862C>T		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.346G>A	8.37:g.82606862C>T	ENSP00000428612:p.Glu116Lys						p.E116K	NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN			1	346	-			116			Extracellular (Potential).		B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.346G>A	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774525	0.49786	0.0	1.16E-4	ENSG00000253598	ENST00000518568	T	0.10382	2.88	6.17	3.39	0.38822	.	0.509134	0.17864	N	0.159415	T	0.08313	0.0207	L	0.29908	0.895	0.22835	N	0.998678	B	0.15930	0.015	B	0.11329	0.006	T	0.29610	-1.0006	10	0.40728	T	0.16	-0.294	8.5001	0.33152	0.0:0.6075:0.3135:0.0791	.	116	Q5PT55	NTCP5_HUMAN	K	116	ENSP00000428612:E116K	ENSP00000428612:E116K	E	-	1	0	SLC10A5	82769417	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	1.656000	0.37355	0.458000	0.26988	0.655000	0.94253	GAA		0.363	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1		XM_294493		41	183	0	0	0	0.013114	0	41	183		
DCAF4L2	138009	broad.mit.edu	37	8	88885315	88885315	+	Missense_Mutation	SNP	C	C	G	rs199898936		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:88885315C>G	ENST00000319675.3	-	1	981	c.885G>C	c.(883-885)aaG>aaC	p.K295N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	295										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGTCCCACAGCTTGATAGTTC	0.493																																						uc003ydz.2		NaN																	0				ovary(1)	1						c.(883-885)AAG>AAC		WD repeat domain 21C							105.0	95.0	99.0					8																	88885315		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885315C>G	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.885G>C	8.37:g.88885315C>G	ENSP00000316496:p.Lys295Asn						p.K295N	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	982	-			295			WD 1.			Missense_Mutation	SNP	ENST00000319675.3	37	c.885G>C	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710946	0.68730	.	.	ENSG00000176566	ENST00000319675	T	0.66815	-0.23	1.92	0.948	0.19561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049638	0.85682	D	0.000000	T	0.73171	0.3553	M	0.65677	2.01	0.35777	D	0.821391	D	0.71674	0.998	D	0.76575	0.988	T	0.75007	-0.3469	10	0.87932	D	0	.	3.7196	0.08450	0.0:0.5768:0.0:0.4232	.	295	Q8NA75	DC4L2_HUMAN	N	295	ENSP00000316496:K295N	ENSP00000316496:K295N	K	-	3	2	DCAF4L2	88954431	0.960000	0.32886	0.630000	0.29268	0.772000	0.43724	-0.140000	0.10342	0.750000	0.32877	0.467000	0.42956	AAG		0.493	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1		NM_152418		12	81	0	0	0	0.010729	0	12	81		
RUNX1T1	862	broad.mit.edu	37	8	93017372	93017372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:93017372C>T	ENST00000523629.1	-	6	1166	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E238K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E249K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E211K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	238					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E238K(1)|p.E201K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542																																						uc003yfd.2		NaN																	2	Substitution - Missense(2)		NS(2)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(712-714)GAA>AAA		acute myelogenous leukemia 1 translocation 1							175.0	157.0	163.0					8																	93017372		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017372C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.712G>A	8.37:g.93017372C>T	ENSP00000428543:p.Glu238Lys					RUNX1T1_uc003yfc.1_Missense_Mutation_p.E211K|RUNX1T1_uc003yfe.1_Missense_Mutation_p.E201K|RUNX1T1_uc010mao.2_Missense_Mutation_p.E211K|RUNX1T1_uc011lgi.1_Missense_Mutation_p.E249K|RUNX1T1_uc003yfb.1_Missense_Mutation_p.E201K|RUNX1T1_uc003yff.1_Missense_Mutation_p.E201K	p.E238K	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		5	796	-			238					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.712G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	35	5.590394	0.96590	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553	T;T;T;T;T;T;T;T;T	0.55234	1.1;1.12;1.1;1.13;1.13;1.13;1.09;1.12;0.53	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.77616	2.38	0.80722	D	1	D;P;D	0.64830	0.958;0.755;0.994	P;B;D	0.63597	0.449;0.189;0.916	T	0.71293	-0.4636	10	0.39692	T	0.17	-13.4368	19.7501	0.96265	0.0:1.0:0.0:0.0	.	249;238;211	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	K	238;211;238;201;201;201;249;211;201	ENSP00000428543:E238K;ENSP00000379520:E211K;ENSP00000265814:E238K;ENSP00000353504:E201K;ENSP00000390137:E201K;ENSP00000428742:E201K;ENSP00000402257:E249K;ENSP00000430728:E211K;ENSP00000429728:E201K	ENSP00000265814:E238K	E	-	1	0	RUNX1T1	93086548	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	2.672000	0.90937	0.655000	0.94253	GAA		0.542	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3		NM_004349, NM_175635		26	170	0	0	0	0.005443	0	26	170		
PTDSS1	9791	broad.mit.edu	37	8	97274371	97274371	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:97274371G>A	ENST00000517309.1	+	1	429	c.103G>A	c.(103-105)Gac>Aac	p.D35N	MTERFD1_ENST00000287025.3_5'Flank|MTERFD1_ENST00000523821.1_5'Flank|PTDSS1_ENST00000455950.2_5'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	35					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CATCACCATTGACTTCTTCTA	0.577																																						uc003yht.1		NaN																	0				ovary(1)	1						c.(103-105)GAC>AAC		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						217.0	173.0	188.0					8																	97274371		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97274371G>A	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.103G>A	8.37:g.97274371G>A	ENSP00000430548:p.Asp35Asn					MTERFD1_uc003yhs.1_5'Flank|MTERFD1_uc010mbd.1_5'Flank|PTDSS1_uc003yhu.1_5'UTR	p.D35N	NM_014754	NP_055569	P48651	PTSS1_HUMAN			1	205	+	Breast(36;6.18e-05)		35					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.103G>A	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883921	0.51908	.	.	ENSG00000156471	ENST00000517309	T	0.33438	1.41	4.2	3.29	0.37713	.	0.218079	0.39146	N	0.001455	T	0.24314	0.0589	L	0.36672	1.1	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.04509	-1.0946	10	0.39692	T	0.17	-14.126	12.1217	0.53895	0.0:0.1731:0.8269:0.0	.	35	P48651	PTSS1_HUMAN	N	35	ENSP00000430548:D35N	ENSP00000337331:D35N	D	+	1	0	PTDSS1	97343547	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.871000	0.56077	0.937000	0.37394	0.557000	0.71058	GAC		0.577	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2				12	57	0	0	0	0.001855	0	12	57		
CPQ	10404	broad.mit.edu	37	8	97797339	97797339	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:97797339G>C	ENST00000220763.5	+	2	424	c.214G>C	c.(214-216)Gat>Cat	p.D72H		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	72					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										ACTTCTGGTTGATACTGTTGG	0.453																																						uc003yhw.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(214-216)GAT>CAT		plasma glutamate carboxypeptidase precursor							116.0	108.0	111.0					8																	97797339		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97797339G>C	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.214G>C	8.37:g.97797339G>C	ENSP00000220763:p.Asp72His					PGCP_uc010mbe.2_Missense_Mutation_p.D72H	p.D72H	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN			2	380	+	Breast(36;1.86e-05)		72					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.214G>C	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053732	0.75960	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	T;T	0.54675	0.56;0.6	5.41	4.52	0.55395	.	0.056804	0.64402	D	0.000002	T	0.75722	0.3888	M	0.88241	2.94	0.47994	D	0.999562	D;D	0.76494	0.999;0.985	D;P	0.69142	0.962;0.813	T	0.81669	-0.0828	10	0.87932	D	0	-25.8465	15.1509	0.72696	0.0:0.0:0.8502:0.1498	.	72;72	B5MDX4;Q9Y646	.;PGCP_HUMAN	H	72	ENSP00000220763:D72H;ENSP00000429146:D72H	ENSP00000220763:D72H	D	+	1	0	AC010859.1	97866515	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	6.097000	0.71452	1.248000	0.43934	0.655000	0.94253	GAT		0.453	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2		NM_016134		18	122	0	0	0	0.00499	0	18	122		
VPS13B	157680	broad.mit.edu	37	8	100454826	100454826	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:100454826G>A	ENST00000358544.2	+	23	3519	c.3408G>A	c.(3406-3408)gaG>gaA	p.E1136E	VPS13B_ENST00000395996.1_Silent_p.E1136E|VPS13B_ENST00000357162.2_Silent_p.E1136E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1136					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCTGCAGGAGATTCCATTTG	0.393																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(3406-3408)GAG>GAA		vacuolar protein sorting 13B isoform 5							92.0	89.0	90.0					8																	100454826		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100454826G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3408G>A	8.37:g.100454826G>A						VPS13B_uc003yiw.2_Silent_p.E1136E|VPS13B_uc003yiu.1_Silent_p.E1136E|VPS13B_uc003yix.1_Silent_p.E606E	p.E1136E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		23	3519	+	Breast(36;3.73e-07)		1136					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.3408G>A	CCDS6280.1																																																																																				0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		13	52	0	0	0	0.013537	0	13	52		
VPS13B	157680	broad.mit.edu	37	8	100883099	100883099	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:100883099C>T	ENST00000358544.2	+	60	11665	c.11554C>T	c.(11554-11556)Cat>Tat	p.H3852Y	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.H3827Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3852					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCAAACAGCCATGTCAAATA	0.433																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(11554-11556)CAT>TAT		vacuolar protein sorting 13B isoform 5							81.0	78.0	79.0					8																	100883099		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100883099C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11554C>T	8.37:g.100883099C>T	ENSP00000351346:p.His3852Tyr					VPS13B_uc003yiw.2_Missense_Mutation_p.H3827Y	p.H3852Y	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		60	11665	+	Breast(36;3.73e-07)		3852					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.11554C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731281	0.89390	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70045	-0.45;-0.45	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.74543	0.3730	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.75484	0.963;0.986	T	0.68945	-0.5275	10	0.23891	T	0.37	.	19.8959	0.96958	0.0:1.0:0.0:0.0	.	3827;3852	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Y	3827;3852	ENSP00000349685:H3827Y;ENSP00000351346:H3852Y	ENSP00000349685:H3827Y	H	+	1	0	VPS13B	100952275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.704000	0.92352	0.655000	0.94253	CAT		0.433	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		17	60	0	0	0	0.006122	0	17	60		
RNF19A	25897	broad.mit.edu	37	8	101300012	101300012	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:101300012C>T	ENST00000519449.1	-	3	707	c.391G>A	c.(391-393)Gag>Aag	p.E131K	RNF19A_ENST00000341084.2_Missense_Mutation_p.E131K	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	131					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AAAGGGCACTCTATGAAGTCT	0.368																																						uc003yjj.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(391-393)GAG>AAG		ring finger protein 19							109.0	110.0	110.0					8																	101300012		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101300012C>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.391G>A	8.37:g.101300012C>T	ENSP00000428968:p.Glu131Lys					RNF19A_uc003yjk.1_Missense_Mutation_p.E131K|RNF19A_uc003yjl.1_Missense_Mutation_p.E131K	p.E131K	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		3	708	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		131					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.391G>A	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322534	0.81580	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167	D;D	0.85339	-1.97;-1.97	5.47	5.47	0.80525	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.88633	0.6489	M	0.89601	3.045	0.80722	D	1	P	0.40970	0.734	B	0.37731	0.257	D	0.90376	0.4384	10	0.54805	T	0.06	.	18.9491	0.92635	0.0:1.0:0.0:0.0	.	131	Q9NV58	RN19A_HUMAN	K	131	ENSP00000428968:E131K;ENSP00000342667:E131K	ENSP00000342667:E131K	E	-	1	0	RNF19A	101369188	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.559000	0.86315	0.650000	0.86243	GAG		0.368	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1		NM_015435		61	231	0	0	0	0.01441	0	61	231		
YWHAZ	7534	broad.mit.edu	37	8	101932959	101932959	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:101932959C>G	ENST00000395957.2	-	7	1041	c.700G>C	c.(700-702)Gga>Cga	p.G234R	YWHAZ_ENST00000395953.2_Missense_Mutation_p.G234R|YWHAZ_ENST00000457309.1_Missense_Mutation_p.G234R|YWHAZ_ENST00000353245.3_Missense_Mutation_p.G234R|YWHAZ_ENST00000522542.1_Missense_Mutation_p.G159R|YWHAZ_ENST00000395951.3_Missense_Mutation_p.G234R|YWHAZ_ENST00000419477.2_Missense_Mutation_p.G234R|YWHAZ_ENST00000395956.3_Missense_Mutation_p.G234R|YWHAZ_ENST00000522819.1_Missense_Mutation_p.G114R|YWHAZ_ENST00000395958.2_Missense_Mutation_p.G234R|YWHAZ_ENST00000521309.1_Missense_Mutation_p.G114R|YWHAZ_ENST00000395948.2_Missense_Mutation_p.G157R			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	234					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			GCTTCGTCTCCTTGGGTATCC	0.458																																						uc011lhe.1		NaN																	0					0						c.(700-702)GGA>CGA		tyrosine 3/tryptophan 5 -monooxygenase	Ginkgo biloba(DB01381)						60.0	68.0	65.0					8																	101932959		2203	4300	6503	SO:0001583	missense	7534				anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding	g.chr8:101932959C>G	U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.700G>C	8.37:g.101932959C>G	ENSP00000379287:p.Gly234Arg					YWHAZ_uc003yjv.2_Missense_Mutation_p.G234R|YWHAZ_uc011lhf.1_Missense_Mutation_p.G234R|YWHAZ_uc003yjw.2_Missense_Mutation_p.G234R|YWHAZ_uc010mbq.2_Missense_Mutation_p.G157R|YWHAZ_uc011lhg.1_Missense_Mutation_p.G114R|YWHAZ_uc010mbr.2_Missense_Mutation_p.G234R|YWHAZ_uc003yjx.2_Missense_Mutation_p.G234R	p.G234R	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		6	877	-	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		234					A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	ENST00000395957.2	37	c.700G>C	CCDS6290.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125470	0.56721	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000522542;ENST00000521309;ENST00000517797;ENST00000522819;ENST00000395953;ENST00000395948;ENST00000395951;ENST00000419477;ENST00000521607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	4.6	4.6	0.57074	14-3-3 domain (2);	0.000000	0.64402	D	0.000006	T	0.49321	0.1550	M	0.82716	2.605	0.58432	D	0.999998	P	0.36282	0.546	B	0.33750	0.169	T	0.61613	-0.7027	10	0.66056	D	0.02	.	17.828	0.88672	0.0:1.0:0.0:0.0	.	234	P63104	1433Z_HUMAN	R	234;234;234;234;234;159;114;157;114;234;157;234;234;242	ENSP00000379287:G234R;ENSP00000398599:G234R;ENSP00000379288:G234R;ENSP00000379286:G234R;ENSP00000309503:G234R;ENSP00000430072:G159R;ENSP00000429623:G114R;ENSP00000428775:G114R;ENSP00000379283:G234R;ENSP00000379278:G157R;ENSP00000379281:G234R;ENSP00000395114:G234R;ENSP00000430058:G242R	ENSP00000309503:G234R	G	-	1	0	YWHAZ	102002135	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.512000	0.60469	2.278000	0.76064	0.580000	0.79431	GGA		0.458	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259017.2		NM_145690		21	98	0	0	0	0.00632	0	21	98		
ATP6V1C1	528	broad.mit.edu	37	8	104080913	104080913	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:104080913C>G	ENST00000395862.3	+	13	1246	c.1087C>G	c.(1087-1089)Caa>Gaa	p.Q363E	ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.Q288E|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.Q288E|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.Q363E	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	363					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AAACCTGAGTCAACAAGAATA	0.368																																						uc003ykz.3		NaN																	0					0						c.(1087-1089)CAA>GAA		ATPase, H+ transporting, lysosomal V1 subunit							100.0	97.0	98.0					8																	104080913		2203	4300	6503	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104080913C>G	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.1087C>G	8.37:g.104080913C>G	ENSP00000379203:p.Gln363Glu					ATP6V1C1_uc010mbz.2_Missense_Mutation_p.Q288E|ATP6V1C1_uc003yla.2_Missense_Mutation_p.Q363E|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.Q288E	p.Q363E	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		13	1332	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		363						Missense_Mutation	SNP	ENST00000395862.3	37	c.1087C>G	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857428	0.51376	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.17	5.27	0.74061	.	0.103068	0.64402	D	0.000001	T	0.41811	0.1175	L	0.43152	1.355	0.52501	D	0.999956	P	0.37276	0.589	B	0.42959	0.403	T	0.06391	-1.0829	10	0.14252	T	0.57	.	17.7197	0.88347	0.0:0.8781:0.1219:0.0	.	363	P21283	VATC1_HUMAN	E	288;363;288;363	ENSP00000428204:Q288E;ENSP00000379203:Q363E;ENSP00000430129:Q288E;ENSP00000430282:Q363E	ENSP00000379203:Q363E	Q	+	1	0	ATP6V1C1	104150089	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	7.807000	0.86032	2.941000	0.99782	0.655000	0.94253	CAA		0.368	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1		NM_001695		16	100	0	0	0	0.006122	0	16	100		
LRP12	29967	broad.mit.edu	37	8	105503092	105503092	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:105503092C>T	ENST00000276654.5	-	7	2497	c.2389G>A	c.(2389-2391)Gat>Aat	p.D797N	LRP12_ENST00000424843.2_Missense_Mutation_p.D778N|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	797					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGGCAAGATCAAGAAGAGGT	0.443																																						uc003yma.2		NaN																	0					0						c.(2389-2391)GAT>AAT		low density lipoprotein-related protein 12							161.0	134.0	143.0					8																	105503092		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503092C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2389G>A	8.37:g.105503092C>T	ENSP00000276654:p.Asp797Asn					LRP12_uc003ymb.2_Missense_Mutation_p.D778N|LRP12_uc003ylz.2_Missense_Mutation_p.D203N	p.D797N	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2484	-			797			Cytoplasmic (Potential).		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2389G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306039	0.60305	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.84800	-1.9;-1.83	5.22	5.22	0.72569	.	0.094615	0.64402	D	0.000001	T	0.80204	0.4580	N	0.19112	0.55	0.58432	D	0.999998	P;P	0.40731	0.728;0.608	B;B	0.41764	0.366;0.202	T	0.82868	-0.0244	10	0.62326	D	0.03	-21.154	19.161	0.93531	0.0:1.0:0.0:0.0	.	778;797	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	N	778;797;162	ENSP00000399148:D778N;ENSP00000276654:D797N	ENSP00000276654:D797N	D	-	1	0	LRP12	105572268	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	6.991000	0.76232	2.589000	0.87451	0.650000	0.86243	GAT		0.443	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1		NM_013437		34	138	0	0	0	0.003271	0	34	138		
ZFPM2	23414	broad.mit.edu	37	8	106813421	106813421	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:106813421G>A	ENST00000407775.2	+	8	1361	c.1111G>A	c.(1111-1113)Ggc>Agc	p.G371S	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G239S|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G102S|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G239S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	371					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTGCCATTTCGGCTTCCAGAC	0.512																																						uc003ymd.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(1111-1113)GGC>AGC		zinc finger protein, multitype 2							167.0	159.0	162.0					8																	106813421		2000	4216	6216	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813421G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1111G>A	8.37:g.106813421G>A	ENSP00000384179:p.Gly371Ser					ZFPM2_uc011lhs.1_Missense_Mutation_p.G102S|uc003yme.1_5'Flank	p.G371S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1134	+			371			C2H2-type 3.		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1111G>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	9.609	1.130832	0.21041	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.86	5.86	0.93980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.093995	0.85682	D	0.000000	T	0.15176	0.0366	N	0.17278	0.47	0.80722	D	1	B	0.30021	0.265	B	0.17722	0.019	T	0.07751	-1.0756	10	0.02654	T	1	.	20.1837	0.98210	0.0:0.0:1.0:0.0	.	371	Q8WW38	FOG2_HUMAN	S	371;239;239;102	ENSP00000384179:G371S;ENSP00000430757:G239S;ENSP00000428720:G239S;ENSP00000367733:G102S	ENSP00000367733:G102S	G	+	1	0	ZFPM2	106882597	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.943000	0.75934	2.774000	0.95407	0.650000	0.86243	GGC		0.512	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1				43	193	0	0	0	0.01441	0	43	193		
OXR1	55074	broad.mit.edu	37	8	107719112	107719112	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:107719112G>C	ENST00000442977.2	+	8	1465	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q	OXR1_ENST00000312046.6_Missense_Mutation_p.E448Q|OXR1_ENST00000445937.1_Missense_Mutation_p.E455Q|OXR1_ENST00000497705.1_Missense_Mutation_p.E388Q|OXR1_ENST00000531443.1_Missense_Mutation_p.E455Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000517566.2_Missense_Mutation_p.E455Q	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	456					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTTTCTTCATGAGAATTCGTT	0.353																																						uc011lht.1		NaN																	0					0						c.(1366-1368)GAG>CAG		oxidation resistance 1 isoform 1							68.0	67.0	67.0					8																	107719112		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107719112G>C	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1366G>C	8.37:g.107719112G>C	ENSP00000405424:p.Glu456Gln					OXR1_uc003ymf.2_Missense_Mutation_p.E455Q|OXR1_uc011lhu.1_Missense_Mutation_p.E448Q|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.E153Q|OXR1_uc003ymg.1_Missense_Mutation_p.E388Q|OXR1_uc003ymi.1_Missense_Mutation_p.E367Q	p.E456Q	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		8	1465	+			456					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.1366G>C	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.450|3.450	-0.112177|-0.112177	0.06881|0.06881	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046|ENST00000519415	T;T;T;T;T;T|.	0.25579|.	2.66;2.66;2.66;2.66;1.79;2.66|.	5.62|5.62	3.81|3.81	0.43845|0.43845	.|.	0.831709|.	0.11163|.	N|.	0.592844|.	T|T	0.39963|0.39963	0.1098|0.1098	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	0.999992|0.999992	B;B;B;B;B|.	0.20052|.	0.028;0.03;0.03;0.024;0.041|.	B;B;B;B;B|.	0.17433|.	0.017;0.008;0.008;0.018;0.018|.	T|T	0.22556|0.22556	-1.0213|-1.0213	10|5	0.40728|.	T|.	0.16|.	-17.4206|-17.4206	9.2161|9.2161	0.37348|0.37348	0.3302:0.0:0.6698:0.0|0.3302:0.0:0.6698:0.0	.|.	448;456;455;388;455|.	Q8N573-2;Q8N573;D3HIS6;Q8N573-3;Q8N573-5|.	.;OXR1_HUMAN;.;.;.|.	Q|I	455;455;455;456;388;448|168	ENSP00000402918:E455Q;ENSP00000431966:E455Q;ENSP00000429205:E455Q;ENSP00000405424:E456Q;ENSP00000431014:E388Q;ENSP00000311026:E448Q|.	ENSP00000311026:E448Q|.	E|M	+|+	1|3	0|0	OXR1|OXR1	107788288|107788288	0.014000|0.014000	0.17966|0.17966	0.023000|0.023000	0.16930|0.16930	0.026000|0.026000	0.11368|0.11368	1.079000|1.079000	0.30766|0.30766	1.381000|1.381000	0.46364|0.46364	0.591000|0.591000	0.81541|0.81541	GAG|ATG		0.353	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_181354		86	41	0	0	0	0.01441	0	86	41		
ANGPT1	284	broad.mit.edu	37	8	108509537	108509537	+	IGR	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:108509537G>A								ANGPT1 (160787 upstream) : RNA5SP275 (387184 downstream)																							TCCAGATGTTGAAGTTTCTGG	0.448																																						uc003ymn.2		NaN																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(250-252)CAA>TAA		angiopoietin 1 precursor							155.0	143.0	147.0					8																	108509537		2203	4300	6503	SO:0001628	intergenic_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108509537G>A																													8.37:g.108509537G>A						ANGPT1_uc003ymo.2_Nonsense_Mutation_p.Q84*	p.Q84*	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		1	718	-	Breast(1;5.06e-08)		84			Potential.			Nonsense_Mutation	SNP		37	c.250C>T		.	.	.	.	.	.	.	.	.	.	G	43	9.855863	0.99280	.	.	ENSG00000154188	ENST00000517746;ENST00000297450	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000297450:Q84X	Q	-	1	0	ANGPT1	108578713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.136000	0.94489	2.880000	0.98712	0.650000	0.86243	CAA	0	0.448										30	142	0	0	0	0.009535	0	30	142		
ANGPT1	284	broad.mit.edu	37	8	108509747	108509747	+	IGR	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:108509747G>A								ANGPT1 (160997 upstream) : RNA5SP275 (386974 downstream)																							ATGTGAGTCAGAATGGCAGCG	0.483																																						uc003ymn.2		NaN																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(40-42)CTG>TTG		angiopoietin 1 precursor							116.0	100.0	105.0					8																	108509747		2203	4300	6503	SO:0001628	intergenic_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108509747G>A																													8.37:g.108509747G>A						ANGPT1_uc003ymo.2_Silent_p.L14L	p.L14L	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		1	508	-	Breast(1;5.06e-08)		14						Silent	SNP		37	c.40C>T																																																																																				0	0.483										8	51	0	0	0	0.00308	0	8	51		
CSMD3	114788	broad.mit.edu	37	8	113518955	113518955	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:113518955G>A	ENST00000297405.5	-	29	5104	c.4860C>T	c.(4858-4860)gtC>gtT	p.V1620V	CSMD3_ENST00000352409.3_Silent_p.V1620V|CSMD3_ENST00000455883.2_Silent_p.V1516V|CSMD3_ENST00000343508.3_Silent_p.V1580V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1620	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTCTGCATTGACGGTGATAG	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4858-4860)GTC>GTT		CUB and Sushi multiple domains 3 isoform 1							148.0	138.0	141.0					8																	113518955		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113518955G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4860C>T	8.37:g.113518955G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.V892V|CSMD3_uc003ynt.2_Silent_p.V1580V|CSMD3_uc011lhx.1_Silent_p.V1516V	p.V1620V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			29	5019	-			1620			Extracellular (Potential).|CUB 9.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4860C>T	CCDS6315.1																																																																																				0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		26	124	0	0	0	0.004656	0	26	124		
UTP23	84294	broad.mit.edu	37	8	117782536	117782536	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:117782536G>C	ENST00000309822.2	+	2	395	c.294G>C	c.(292-294)gtG>gtC	p.V98V	UTP23_ENST00000357148.3_Silent_p.V98V|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_5'UTR	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	98					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						AGAATGCAGTGAGTGGATCAG	0.383																																						uc003yoc.2		NaN																	0					0						c.(292-294)GTG>GTC		UTP23, small subunit (SSU) processome component,							130.0	119.0	123.0					8																	117782536		2203	4300	6503	SO:0001819	synonymous_variant	84294				rRNA processing	nucleolus		g.chr8:117782536G>C		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.294G>C	8.37:g.117782536G>C							p.V98V	NM_032334	NP_115710	Q9BRU9	UTP23_HUMAN			2	395	+			98					B2RE25|Q96NJ8	Silent	SNP	ENST00000309822.2	37	c.294G>C	CCDS6320.1																																																																																				0.383	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1		NM_032334		27	124	0	0	0	0.004656	0	27	124		
HAS2	3037	broad.mit.edu	37	8	122629422	122629422	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:122629422C>G	ENST00000303924.4	-	3	1189	c.652G>C	c.(652-654)Gac>Cac	p.D218H		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	218					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GAGGCTGGGTCAAGCATAGTG	0.393																																						uc003yph.2		NaN																HAS2/PLAG1(10)	0				soft_tissue(10)|ovary(5)	15						c.(652-654)GAC>CAC		hyaluronan synthase 2							127.0	116.0	120.0					8																	122629422		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122629422C>G	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.652G>C	8.37:g.122629422C>G	ENSP00000306991:p.Asp218His						p.D218H	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	1190	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		218			Cytoplasmic (Potential).		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.652G>C	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939401	0.92526	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.60797	0.16	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.79361	-0.1835	10	0.52906	T	0.07	-21.3617	19.3687	0.94475	0.0:1.0:0.0:0.0	.	218	Q92819	HAS2_HUMAN	H	218	ENSP00000306991:D218H	ENSP00000306991:D218H	D	-	1	0	HAS2	122698603	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.484000	0.81180	2.573000	0.86826	0.561000	0.74099	GAC		0.393	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2		NM_005328		9	52	0	0	0	0.004482	0	9	52		
ZHX1	11244	broad.mit.edu	37	8	124266210	124266210	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:124266210C>A	ENST00000522655.1	-	3	2517	c.1977G>T	c.(1975-1977)ggG>ggT	p.G659G	ZHX1_ENST00000297857.2_Silent_p.G659G|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Silent_p.G659G			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	659					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)			TGCCTGTACTCCCTGACTTAG	0.438																																						uc003yqe.2		NaN																	0				ovary(1)	1						c.(1975-1977)GGG>GGT		zinc fingers and homeoboxes 1							108.0	108.0	108.0					8																	124266210		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:124266210C>A	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1977G>T	8.37:g.124266210C>A						C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Silent_p.G659G|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Silent_p.G659G	p.G659G	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2407	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		659					Q8IWD8	Silent	SNP	ENST00000522655.1	37	c.1977G>T	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	C	3.038	-0.198086	0.06219	.	.	ENSG00000165156	ENST00000520474	T	0.31510	1.49	5.5	1.53	0.23141	.	1.152000	0.06089	N	0.663391	T	0.27063	0.0663	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.33420	-0.9869	7	0.54805	T	0.06	-1.9562	3.6467	0.08187	0.1437:0.5817:0.1268:0.1478	.	.	.	.	V	344	ENSP00000428676:G344V	ENSP00000428676:G344V	G	-	2	0	ZHX1	124335391	0.852000	0.29690	0.356000	0.25785	0.943000	0.58893	1.974000	0.40559	0.091000	0.17302	0.555000	0.69702	GGA		0.438	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1				16	161	1	0	1.99824e-07	0.00499	2.05896e-07	16	161		
EFR3A	23167	broad.mit.edu	37	8	132991170	132991170	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:132991170C>G	ENST00000254624.5	+	13	1628	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	EFR3A_ENST00000519656.1_Missense_Mutation_p.S432C|EFR3A_ENST00000334503.4_Missense_Mutation_p.S468C	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	468						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTATCACCATCTCTCATGGAG	0.443																																						uc003yte.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1402-1404)TCT>TGT		EFR3 homolog A							153.0	132.0	139.0					8																	132991170		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132991170C>G	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1403C>G	8.37:g.132991170C>G	ENSP00000254624:p.Ser468Cys						p.S468C	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		13	1604	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		468					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1403C>G	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921883	0.73213	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.66280	3.59;3.59;-0.2	5.71	4.84	0.62591	Armadillo-type fold (1);	0.102841	0.64402	D	0.000002	T	0.74275	0.3695	M	0.71581	2.175	0.49798	D	0.999828	P	0.50617	0.937	P	0.58013	0.831	T	0.77635	-0.2514	10	0.72032	D	0.01	-5.9553	13.9573	0.64157	0.0:0.9276:0.0:0.0724	.	468	Q14156	EFR3A_HUMAN	C	468;468;468;432	ENSP00000254624:S468C;ENSP00000334769:S468C;ENSP00000428086:S432C	ENSP00000254624:S468C	S	+	2	0	EFR3A	133060352	1.000000	0.71417	0.500000	0.27589	0.949000	0.60115	7.270000	0.78493	1.441000	0.47550	0.650000	0.86243	TCT		0.443	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1		NM_015137		35	141	0	0	0	0.003271	0	35	141		
KHDRBS3	10656	broad.mit.edu	37	8	136554899	136554899	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:136554899C>G	ENST00000355849.5	+	3	620	c.210C>G	c.(208-210)ttC>ttG	p.F70L	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	70	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTTCCTAGTTCAACTTTGTGG	0.363																																						uc003yuv.2		NaN																	0				ovary(2)	2						c.(208-210)TTC>TTG		KH domain containing, RNA binding, signal							137.0	143.0	141.0					8																	136554899		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136554899C>G	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.210C>G	8.37:g.136554899C>G	ENSP00000348108:p.Phe70Leu					KHDRBS3_uc003yuw.2_Missense_Mutation_p.F70L	p.F70L	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		3	604	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		70			KH.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.210C>G	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193092	0.58017	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	T;T;T	0.15372	2.43;2.43;2.43	5.52	4.63	0.57726	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.34077	0.0885	M	0.82517	2.595	0.80722	D	1	D;P	0.55172	0.97;0.855	P;P	0.53549	0.729;0.561	T	0.11641	-1.0579	10	0.87932	D	0	-21.0938	10.0154	0.42011	0.0:0.7983:0.0:0.2017	.	70;70	O75525-2;O75525	.;KHDR3_HUMAN	L	70;42;43	ENSP00000348108:F70L;ENSP00000431022:F42L;ENSP00000430284:F43L	ENSP00000348108:F70L	F	+	3	2	KHDRBS3	136624081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.967000	0.49216	2.761000	0.94854	0.655000	0.94253	TTC		0.363	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1				134	81	0	0	0	0.01441	0	134	81		
COL22A1	169044	broad.mit.edu	37	8	139648989	139648989	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:139648989T>C	ENST00000303045.6	-	48	3997	c.3551A>G	c.(3550-3552)gAt>gGt	p.D1184G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.D1164G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1184	Collagen-like 11.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTTTACCTGATCACCTTTCTG	0.413										HNSCC(7;0.00092)																												uc003yvd.2		NaN																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(3550-3552)GAT>GGT		collagen, type XXII, alpha 1							237.0	228.0	231.0					8																	139648989		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139648989T>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3551A>G	8.37:g.139648989T>C	ENSP00000303153:p.Asp1184Gly	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.D464G	p.D1184G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		48	3998	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1184			Pro-rich.|Gly-rich.|Collagen-like 11.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3551A>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.915568	0.52546	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.91295	-2.82;-2.82	4.86	4.86	0.63082	.	0.129168	0.33772	U	0.004569	D	0.90123	0.6914	M	0.70595	2.14	0.29001	N	0.88745	P;P	0.38711	0.59;0.643	B;B	0.43889	0.308;0.435	D	0.84935	0.0862	10	0.27082	T	0.32	.	10.7574	0.46245	0.0:0.0:0.0:1.0	.	1164;1184	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	G	1184;1164;877	ENSP00000303153:D1184G;ENSP00000387655:D1164G	ENSP00000303153:D1184G	D	-	2	0	COL22A1	139718171	0.399000	0.25287	0.984000	0.44739	0.983000	0.72400	1.442000	0.35046	2.036000	0.60181	0.477000	0.44152	GAT		0.413	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		XM_291257		66	342	0	0	0	0.01441	0	66	342		
ZNF623	9831	broad.mit.edu	37	8	144732386	144732386	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144732386G>C	ENST00000501748.2	+	1	433	c.344G>C	c.(343-345)aGa>aCa	p.R115T	ZNF623_ENST00000526926.1_Missense_Mutation_p.R75T|ZNF623_ENST00000458270.2_Missense_Mutation_p.R75T	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGCTTCAGAGAGAGCTCATA	0.478																																						uc003yzd.2		NaN																	0					0						c.(343-345)AGA>ACA		zinc finger protein 623 isoform 1							91.0	89.0	89.0					8																	144732386		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732386G>C	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.344G>C	8.37:g.144732386G>C	ENSP00000445979:p.Arg115Thr					ZNF623_uc011lkp.1_Missense_Mutation_p.R75T|ZNF623_uc003yzc.2_Missense_Mutation_p.R75T	p.R115T	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	433	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		115					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.344G>C	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	9.413	1.081024	0.20309	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.18657	2.2;2.2;2.2	4.06	3.18	0.36537	.	.	.	.	.	T	0.22936	0.0554	M	0.64404	1.975	0.30717	N	0.74871	P	0.48162	0.906	B	0.41571	0.36	T	0.19712	-1.0297	9	0.59425	D	0.04	-7.6427	9.4286	0.38595	0.1057:0.0:0.8943:0.0	.	115	O75123	ZN623_HUMAN	T	75;75;75;115;115	ENSP00000435232:R75T;ENSP00000411139:R75T;ENSP00000445979:R115T	ENSP00000330358:R75T	R	+	2	0	ZNF623	144803529	0.002000	0.14202	0.171000	0.22900	0.159000	0.22180	1.195000	0.32186	1.065000	0.40693	0.655000	0.94253	AGA		0.478	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3		NM_014789		18	146	0	0	0	0.014323	0	18	146		
SCRIB	23513	broad.mit.edu	37	8	144895820	144895820	+	Missense_Mutation	SNP	C	C	G	rs144081360	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144895820C>G	ENST00000320476.3	-	4	439	c.433G>C	c.(433-435)Ggg>Cgg	p.G145R	SCRIB_ENST00000356994.2_Missense_Mutation_p.G145R|SCRIB_ENST00000377533.3_Missense_Mutation_p.G64R|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	145	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCCACGTCCCCGGGCAGTGCC	0.642																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NaN																	0				urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(433-435)GGG>CGG		scribble isoform b							54.0	50.0	52.0					8																	144895820		2202	4300	6502	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895820C>G	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.433G>C	8.37:g.144895820C>G	ENSP00000322938:p.Gly145Arg					SCRIB_uc003yzo.1_Missense_Mutation_p.G145R|MIR937_hsa-mir-937|MI0005759_5'Flank	p.G145R	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		4	440	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		145			Sufficient for targeting to adherens junction and to inhibit cell proliferation.|LRR 5.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.433G>C	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784449	0.31593	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.79749	2.23;-1.3;1.86	4.91	4.03	0.46877	.	.	.	.	.	T	0.74366	0.3707	N	0.05177	-0.1	0.09310	N	1	D;D	0.71674	0.998;0.992	D;P	0.66497	0.944;0.896	T	0.62048	-0.6936	9	0.38643	T	0.18	.	6.5996	0.22693	0.0:0.7086:0.0:0.2914	.	145;145	Q14160;Q14160-3	SCRIB_HUMAN;.	R	145;145;64	ENSP00000349486:G145R;ENSP00000322938:G145R;ENSP00000366756:G64R	ENSP00000322938:G145R	G	-	1	0	SCRIB	144967808	0.590000	0.26815	0.728000	0.30774	0.958000	0.62258	2.229000	0.42990	1.196000	0.43129	0.563000	0.77884	GGG		0.642	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1		NM_015356		9	49	0	0	0	0.008291	0	9	49		
PUF60	22827	broad.mit.edu	37	8	144898723	144898723	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144898723C>T	ENST00000526683.1	-	12	2202	c.1647G>A	c.(1645-1647)caG>caA	p.Q549Q	SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000527197.1_Silent_p.Q503Q|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000349157.6_Silent_p.Q532Q|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000453551.2_Silent_p.Q506Q|PUF60_ENST00000524570.1_5'Flank|PUF60_ENST00000313352.7_Silent_p.Q489Q|PUF60_ENST00000456095.2_Silent_p.Q520Q	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	549	Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CAAAACGCTCCTGGTCGTACA	0.532																																						uc003yzs.2		NaN																	0					0						c.(1645-1647)CAG>CAA		poly-U binding splicing factor 60KDa isoform a							100.0	108.0	106.0					8																	144898723		2088	4202	6290	SO:0001819	synonymous_variant	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144898723C>T	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1647G>A	8.37:g.144898723C>T						SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Silent_p.Q489Q|PUF60_uc003yzt.2_Silent_p.Q532Q|PUF60_uc003yzq.2_Silent_p.Q506Q	p.Q549Q	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		12	1711	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		549			RRM 3; atypical.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Silent	SNP	ENST00000526683.1	37	c.1647G>A	CCDS47934.1																																																																																				0.532	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1		NM_014281		77	45	0	0	0	0.01441	0	77	45		
EPPK1	83481	broad.mit.edu	37	8	144940699	144940699	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144940699C>T	ENST00000525985.1	-	2	6794	c.6723G>A	c.(6721-6723)gaG>gaA	p.E2241E				P58107	EPIPL_HUMAN	epiplakin 1	2241						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCTCATCTTCTCCTGGCGGC	0.697																																						uc003zaa.1		NaN																	0				pancreas(1)|skin(1)	2						c.(14731-14733)GAG>GAA		epiplakin 1							63.0	62.0	62.0					8																	144940699		2180	4246	6426	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940699C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6723G>A	8.37:g.144940699C>T							p.E4911E	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	14746	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		4911			Plectin 61.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.14733G>A																																																																																					0.697	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308		5	83	0	0	0	0.000602	0	5	83		
PLEC	5339	broad.mit.edu	37	8	144991306	144991306	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144991306G>A	ENST00000322810.4	-	32	13263	c.13094C>T	c.(13093-13095)tCc>tTc	p.S4365F	PLEC_ENST00000436759.2_Missense_Mutation_p.S4255F|PLEC_ENST00000398774.2_Missense_Mutation_p.S4196F|PLEC_ENST00000354589.3_Missense_Mutation_p.S4228F|PLEC_ENST00000356346.3_Missense_Mutation_p.S4214F|PLEC_ENST00000345136.3_Missense_Mutation_p.S4228F|PLEC_ENST00000357649.2_Missense_Mutation_p.S4232F|PLEC_ENST00000354958.2_Missense_Mutation_p.S4206F|PLEC_ENST00000527096.1_Missense_Mutation_p.S4251F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4365	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCGGTGATGGAGAGCGTGCC	0.667																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(13093-13095)TCC>TTC		plectin isoform 1							49.0	64.0	59.0					8																	144991306		2141	4232	6373	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144991306G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13094C>T	8.37:g.144991306G>A	ENSP00000323856:p.Ser4365Phe					PLEC_uc003zab.1_Missense_Mutation_p.S4228F|PLEC_uc003zac.1_Missense_Mutation_p.S4232F|PLEC_uc003zad.2_Missense_Mutation_p.S4228F|PLEC_uc003zae.1_Missense_Mutation_p.S4196F|PLEC_uc003zag.1_Missense_Mutation_p.S4206F|PLEC_uc003zah.2_Missense_Mutation_p.S4214F|PLEC_uc003zaj.2_Missense_Mutation_p.S4255F	p.S4365F	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	13264	-			4365			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13094C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250637	0.39797	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.24	5.24	0.73138	.	0.086699	0.46758	U	0.000276	T	0.80369	0.4610	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D;D;D;P;D;D;D;D	0.63381	0.914;0.914;0.914;0.823;0.914;0.914;0.914;0.914	T	0.82230	-0.0560	10	0.87932	D	0	.	18.6231	0.91328	0.0:0.0:1.0:0.0	.	4255;4214;4206;4365;4196;4228;4232;4228	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	F	4228;4232;4228;4196;4365;4206;4214;4255;4251	ENSP00000344848:S4228F;ENSP00000350277:S4232F;ENSP00000346602:S4228F;ENSP00000381756:S4196F;ENSP00000323856:S4365F;ENSP00000347044:S4206F;ENSP00000348702:S4214F;ENSP00000388180:S4255F;ENSP00000434583:S4251F	ENSP00000323856:S4365F	S	-	2	0	PLEC	145063294	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.748000	0.85085	2.726000	0.93360	0.549000	0.68633	TCC		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		6	33	0	0	0	0.001168	0	6	33		
PLEC	5339	broad.mit.edu	37	8	144997136	144997136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144997136C>T	ENST00000322810.4	-	31	7541	c.7372G>A	c.(7372-7374)Gag>Aag	p.E2458K	PLEC_ENST00000436759.2_Missense_Mutation_p.E2348K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2289K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2321K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2307K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2321K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2325K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2299K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2344K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2458	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCGTGGCCTCCTGCACCGCC	0.662																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(7372-7374)GAG>AAG		plectin isoform 1							14.0	16.0	16.0					8																	144997136		2192	4289	6481	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144997136C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7372G>A	8.37:g.144997136C>T	ENSP00000323856:p.Glu2458Lys					PLEC_uc003zab.1_Missense_Mutation_p.E2321K|PLEC_uc003zac.1_Missense_Mutation_p.E2325K|PLEC_uc003zad.2_Missense_Mutation_p.E2321K|PLEC_uc003zae.1_Missense_Mutation_p.E2289K|PLEC_uc003zag.1_Missense_Mutation_p.E2299K|PLEC_uc003zah.2_Missense_Mutation_p.E2307K|PLEC_uc003zaj.2_Missense_Mutation_p.E2348K	p.E2458K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	7542	-			2458			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7372G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208715	0.39003	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.85629	-1.98;-1.98;-2.01;-2.01;-2.0;-1.98;-1.96;-1.98;-1.98	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000006	D	0.91016	0.7174	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.994;0.997;0.997;0.997;0.997	D	0.89690	0.3897	10	0.33940	T	0.23	.	18.0666	0.89392	0.0:1.0:0.0:0.0	.	2348;2307;2299;2458;2289;2321;2325;2321	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	2321;2325;2321;2289;2458;2299;2307;2348;2344	ENSP00000344848:E2321K;ENSP00000350277:E2325K;ENSP00000346602:E2321K;ENSP00000381756:E2289K;ENSP00000323856:E2458K;ENSP00000347044:E2299K;ENSP00000348702:E2307K;ENSP00000388180:E2348K;ENSP00000434583:E2344K	ENSP00000323856:E2458K	E	-	1	0	PLEC	145069124	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	5.909000	0.69923	2.379000	0.81126	0.549000	0.68633	GAG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		4	9	0	0	0	0.000602	0	4	9		
CYC1	1537	broad.mit.edu	37	8	145151087	145151087	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145151087C>T	ENST00000318911.4	+	3	460	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	129	Cytochrome c.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATGGACTTCGTGGCCTACC	0.612											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zaz.3		NaN																	0					0						c.(385-387)TTC>TTT		cytochrome c-1							142.0	156.0	151.0					8																	145151087		2203	4300	6503	SO:0001819	synonymous_variant	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151087C>T	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.387C>T	8.37:g.145151087C>T			OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692	CYC1_uc003zay.2_Silent_p.F70F	p.F129F	NM_001916	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	430	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		129			Cytochrome c.		Q5U062|Q6FHS7	Silent	SNP	ENST00000318911.4	37	c.387C>T	CCDS6415.1																																																																																				0.612	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1		NM_001916		46	202	0	0	0	0.01441	0	46	202		
SLC52A2	79581	broad.mit.edu	37	8	145583548	145583548	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145583548C>T	ENST00000532887.1	+	3	979	c.396C>T	c.(394-396)ttC>ttT	p.F132F	SLC52A2_ENST00000402965.1_Silent_p.F132F|SLC52A2_ENST00000526891.1_3'UTR|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000530047.1_Silent_p.F132F|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Silent_p.F132F|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_Silent_p.F132F|SLC52A2_ENST00000540505.1_Silent_p.F44F			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	132					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	ATGTCACTTTCCTGCCCTTCT	0.602																																						uc003zcc.1		NaN																	0					0						c.(394-396)TTC>TTT		G protein-coupled receptor 172A precursor							171.0	164.0	166.0					8																	145583548		2203	4300	6503	SO:0001819	synonymous_variant	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583548C>T	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.396C>T	8.37:g.145583548C>T						FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.F132F|GPR172A_uc003zce.1_Silent_p.F132F|GPR172A_uc010mfy.1_Silent_p.F132F|GPR172A_uc003zcf.1_Silent_p.F132F|GPR172A_uc011llc.1_Silent_p.F44F	p.F132F	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		3	553	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		132			Helical; (Potential).		A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	ENST00000532887.1	37	c.396C>T	CCDS6423.1																																																																																				0.602	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1		NM_024531		38	121	0	0	0	0.007835	0	38	121		
ADCK5	203054	broad.mit.edu	37	8	145616165	145616165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145616165G>A	ENST00000308860.6	+	5	496	c.452G>A	c.(451-453)gGg>gAg	p.G151E	ADCK5_ENST00000526231.2_3'UTR|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	151						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTGGGCCAGGGGCTGTGCTCC	0.662																																						uc003zch.2		NaN																	0				stomach(1)	1						c.(451-453)GGG>GAG		aarF domain containing kinase 5							46.0	49.0	48.0					8																	145616165		2203	4300	6503	SO:0001583	missense	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145616165G>A	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.452G>A	8.37:g.145616165G>A	ENSP00000310547:p.Gly151Glu					ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_5'Flank	p.G151E	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		5	506	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		151					B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	c.452G>A	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720217	0.89205	.	.	ENSG00000173137	ENST00000308860	T	0.75050	-0.9	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	D	0.86222	0.5881	M	0.87097	2.86	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.85837	0.1395	10	0.30854	T	0.27	-50.433	13.5137	0.61528	0.0:0.0:1.0:0.0	.	151	Q3MIX3	ADCK5_HUMAN	E	151	ENSP00000310547:G151E	ENSP00000310547:G151E	G	+	2	0	ADCK5	145586973	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.762000	0.91711	2.234000	0.73211	0.563000	0.77884	GGG		0.662	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2		NM_174922		11	39	0	0	0	0.013537	0	11	39		
FOXH1	8928	broad.mit.edu	37	8	145700598	145700598	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145700598T>C	ENST00000377317.4	-	2	799	c.221A>G	c.(220-222)tAc>tGc	p.Y74C	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	74					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCAGCCCTCGTAGTCTTCCCT	0.682																																						uc003zdc.2		NaN																	0					0						c.(220-222)TAC>TGC		forkhead box H1							46.0	45.0	45.0					8																	145700598		2201	4299	6500	SO:0001583	missense	8928				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr8:145700598T>C	AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"""Forkhead boxes"""	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.221A>G	8.37:g.145700598T>C	ENSP00000366534:p.Tyr74Cys						p.Y74C	NM_003923	NP_003914	O75593	FOXH1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		2	800	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		74			Fork-head.		D3DWM4	Missense_Mutation	SNP	ENST00000377317.4	37	c.221A>G	CCDS6428.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757845	0.69648	.	.	ENSG00000160973	ENST00000377317;ENST00000292541	D	0.95518	-3.73	4.96	3.82	0.43975	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	L	0.43923	1.385	0.48236	D	0.999617	D	0.89917	1.0	D	0.83275	0.996	D	0.93831	0.7128	10	0.56958	D	0.05	-20.4634	4.5935	0.12319	0.0:0.0992:0.1981:0.7027	.	74	O75593	FOXH1_HUMAN	C	74;101	ENSP00000366534:Y74C	ENSP00000292541:Y101C	Y	-	2	0	FOXH1	145671406	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.590000	0.67530	1.864000	0.54056	0.460000	0.39030	TAC		0.682	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1				5	17	0	0	0	0.000602	0	5	17		
ZNF251	90987	broad.mit.edu	37	8	145947214	145947214	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145947214G>T	ENST00000292562.7	-	5	2106	c.1831C>A	c.(1831-1833)Caa>Aaa	p.Q611K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	611					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACCTGATGTTGAATAAGGGTT	0.478																																						uc003zdv.3		NaN																	0					0						c.(1831-1833)CAA>AAA		zinc finger protein 251							107.0	106.0	106.0					8																	145947214		2116	4255	6371	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947214G>T	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1831C>A	8.37:g.145947214G>T	ENSP00000292562:p.Gln611Lys						p.Q611K	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	2087	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		611			C2H2-type 13.		Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.1831C>A	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	G	0.405	-0.916414	0.02415	.	.	ENSG00000198169	ENST00000292562	T	0.46063	0.88	1.98	0.0105	0.14083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20861	0.0502	N	0.25286	0.73	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30297	-0.9983	9	0.05833	T	0.94	.	5.6603	0.17664	0.1319:0.202:0.6661:0.0	.	611	Q9BRH9	ZN251_HUMAN	K	611	ENSP00000292562:Q611K	ENSP00000292562:Q611K	Q	-	1	0	ZNF251	145918023	0.000000	0.05858	0.033000	0.17914	0.100000	0.18952	-6.598000	0.00060	-0.020000	0.14032	0.563000	0.77884	CAA		0.478	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1		NM_138367		48	33	1	0	3.05275e-18	0.013114	3.22672e-18	48	33		
SMARCA2	6595	broad.mit.edu	37	9	2060921	2060921	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:2060921C>T	ENST00000382203.1	+	9	1836	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	SMARCA2_ENST00000382194.1_Silent_p.L543L|SMARCA2_ENST00000349721.2_Silent_p.L543L|SMARCA2_ENST00000357248.2_Silent_p.L543L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	543					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCTGACCAATCTGGTTTGGGA	0.488																																						uc003zhc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1627-1629)CTG>TTG		SWI/SNF-related matrix-associated							86.0	79.0	81.0					9																	2060921		2203	4300	6503	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2060921C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1627C>T	9.37:g.2060921C>T						SMARCA2_uc003zhd.2_Silent_p.L543L|SMARCA2_uc010mha.2_Silent_p.L534L	p.L543L	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	9	1726	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	543					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.1627C>T	CCDS34977.1																																																																																				0.488	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070		11	56	0	0	0	0.010729	0	11	56		
SMARCA2	6595	broad.mit.edu	37	9	2060974	2060974	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:2060974G>T	ENST00000382203.1	+	9	1889	c.1680G>T	c.(1678-1680)agG>agT	p.R560S	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R560S|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R560S|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R560S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	560	Poly-Arg.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agaagaggaggaggaggaaga	0.493																																						uc003zhc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1678-1680)AGG>AGT		SWI/SNF-related matrix-associated							56.0	50.0	52.0					9																	2060974		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2060974G>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1680G>T	9.37:g.2060974G>T	ENSP00000371638:p.Arg560Ser					SMARCA2_uc003zhd.2_Missense_Mutation_p.R560S|SMARCA2_uc010mha.2_Missense_Mutation_p.R551S	p.R560S	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	9	1779	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	560			Poly-Arg.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1680G>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492275	0.64074	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.17	1.07	0.20283	.	0.269718	0.35936	N	0.002892	T	0.10766	0.0263	N	0.14661	0.345	0.80722	D	1	B;B;B	0.22683	0.002;0.073;0.043	B;B;B	0.21917	0.002;0.037;0.027	T	0.18493	-1.0335	9	.	.	.	-31.5833	10.7566	0.46241	0.3003:0.0:0.6997:0.0	.	161;560;560	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	S	560	ENSP00000265773:R560S;ENSP00000349788:R560S;ENSP00000371638:R560S;ENSP00000371629:R560S	.	R	+	3	2	SMARCA2	2050974	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.276000	0.43408	0.346000	0.23899	0.655000	0.94253	AGG		0.493	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070		23	25	1	0	5.45024e-15	0.00333	5.7246e-15	23	25		
SPATA6L	55064	broad.mit.edu	37	9	4661989	4661989	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:4661989G>A	ENST00000454239.2	-	3	332	c.87C>T	c.(85-87)ctC>ctT	p.L29L	SPATA6L_ENST00000475086.1_Silent_p.L29L|SPATA6L_ENST00000223517.5_5'UTR|PPAPDC2_ENST00000381883.2_5'Flank|SPATA6L_ENST00000381895.5_5'UTR|SPATA6L_ENST00000381890.5_Silent_p.L29L			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	29																	GGTAGACCCCGAGGTACACAT	0.438											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011llz.1		NaN																	0					0						c.(85-87)CTC>CTT		hypothetical protein LOC55064							90.0	83.0	85.0					9																	4661989		1877	4114	5991	SO:0001819	synonymous_variant	55064							g.chr9:4661989G>A	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.87C>T	9.37:g.4661989G>A			OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	C9orf68_uc003zik.2_RNA|C9orf68_uc003zil.2_RNA|C9orf68_uc010mhj.2_Silent_p.L29L|C9orf68_uc011lly.1_5'UTR|C9orf68_uc003zim.2_Silent_p.L29L|PPAPDC2_uc003zin.2_5'Flank	p.L29L	NM_001039395	NP_001034484	B4DIY4	B4DIY4_HUMAN		GBM - Glioblastoma multiforme(50;0.0222)	3	325	-		Breast(48;0.0456)	29					B4DIY4|Q5JVJ5|Q8IY90	Silent	SNP	ENST00000454239.2	37	c.87C>T																																																																																					0.438	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding			NM_017985		7	50	0	0	0	0.001984	0	7	50		
RIC1	57589	broad.mit.edu	37	9	5745991	5745991	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:5745991G>A	ENST00000414202.2	+	11	1347	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	KIAA1432_ENST00000449720.2_Missense_Mutation_p.E307K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E386K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.E307K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E307K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TCAAAACACTGAAATTGAGTC	0.418																																						uc003zji.2		NaN																	0					0						c.(919-921)GAA>AAA		connexin 43-interacting protein 150 isoform a							153.0	144.0	147.0					9																	5745991		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5745991G>A																												ENST00000414202.2:c.1156G>A	9.37:g.5745991G>A	ENSP00000416696:p.Glu386Lys					KIAA1432_uc003zjh.2_Missense_Mutation_p.E307K|KIAA1432_uc003zjl.3_Missense_Mutation_p.E307K|KIAA1432_uc003zjj.1_5'UTR	p.E307K	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	10	1012	+		Acute lymphoblastic leukemia(23;0.154)	386						Missense_Mutation	SNP	ENST00000414202.2	37	c.919G>A	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	7.593	0.671142	0.14776	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	6.17	4.27	0.50696	.	0.997325	0.08132	N	0.993065	T	0.21801	0.0525	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.22452	-1.0216	10	0.06625	T	0.88	-4.0478	7.501	0.27518	0.0673:0.1269:0.6814:0.1244	.	307;386;386	B7ZM67;Q4ADV7;G5E932	.;RIC1_HUMAN;.	K	386;386;307;307;307	ENSP00000251879:E386K;ENSP00000416696:E386K;ENSP00000370943:E307K;ENSP00000402240:E307K;ENSP00000398823:E307K	ENSP00000251879:E386K	E	+	1	0	KIAA1432	5735991	0.736000	0.28164	0.097000	0.21041	0.835000	0.47333	3.219000	0.51200	0.869000	0.35703	0.655000	0.94253	GAA		0.418	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3				77	86	0	0	0	0.01441	0	77	86		
KIAA2026	158358	broad.mit.edu	37	9	6007317	6007317	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:6007317G>A	ENST00000399933.3	-	1	470	c.471C>T	c.(469-471)ttC>ttT	p.F157F	MIR4665_ENST00000581132.1_RNA|KIAA2026_ENST00000381461.2_Silent_p.F157F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	157										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGTCCGCCACGAACTCGGTGA	0.637																																						uc003zjq.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(469-471)TTC>TTT		hypothetical protein LOC158358							49.0	55.0	53.0					9																	6007317		2073	4201	6274	SO:0001819	synonymous_variant	158358							g.chr9:6007317G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.471C>T	9.37:g.6007317G>A							p.F157F	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	687	-		Acute lymphoblastic leukemia(23;0.158)	157					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.471C>T																																																																																					0.637	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2		NM_001017969		11	48	0	0	0	0.003163	0	11	48		
GLDC	2731	broad.mit.edu	37	9	6605254	6605254	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:6605254C>T	ENST00000321612.6	-	6	888	c.738G>A	c.(736-738)ctG>ctA	p.L246L		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	246					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AGGGTAACTTCAGCTCAGTGA	0.433																																						uc003zkc.2		NaN																	0				ovary(2)	2						c.(736-738)CTG>CTA		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						82.0	67.0	72.0					9																	6605254		2203	4300	6503	SO:0001819	synonymous_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6605254C>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.738G>A	9.37:g.6605254C>T							p.L246L	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	6	931	-		Acute lymphoblastic leukemia(23;0.161)	246					Q2M2F8	Silent	SNP	ENST00000321612.6	37	c.738G>A	CCDS34987.1																																																																																				0.433	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2		NM_000170		14	61	0	0	0	0.001855	0	14	61		
KDM4C	23081	broad.mit.edu	37	9	7174617	7174617	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:7174617G>C	ENST00000381309.3	+	22	3624	c.3059G>C	c.(3058-3060)aGa>aCa	p.R1020T	KDM4C_ENST00000428870.2_Missense_Mutation_p.R707T|KDM4C_ENST00000442236.2_Missense_Mutation_p.R765T	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	1020					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CAAGGGGAGAGAAAGAGACAA	0.458																																						uc003zkh.2		NaN																	0				ovary(1)	1						c.(3058-3060)AGA>ACA		jumonji domain containing 2C isoform 1							157.0	157.0	157.0					9																	7174617		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7174617G>C	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.3059G>C	9.37:g.7174617G>C	ENSP00000370710:p.Arg1020Thr					KDM4C_uc011lmk.1_Missense_Mutation_p.R765T|KDM4C_uc011lml.1_Missense_Mutation_p.R707T	p.R1020T	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			22	3639	+			1020					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.3059G>C	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509032	0.27036	.	.	ENSG00000107077	ENST00000381309;ENST00000442236;ENST00000428870	T;T;T	0.14766	2.48;2.72;3.46	5.69	3.58	0.41010	.	0.208574	0.40818	N	0.001017	T	0.09423	0.0232	L	0.29908	0.895	0.33493	D	0.58892	B;B	0.27559	0.181;0.039	B;B	0.26969	0.075;0.024	T	0.11324	-1.0592	10	0.66056	D	0.02	-7.7935	5.3947	0.16263	0.708:0.0:0.292:0.0	.	765;1020	E7EV17;Q9H3R0	.;KDM4C_HUMAN	T	1020;765;707	ENSP00000370710:R1020T;ENSP00000409353:R765T;ENSP00000405739:R707T	ENSP00000370710:R1020T	R	+	2	0	KDM4C	7164617	1.000000	0.71417	0.981000	0.43875	0.228000	0.25075	4.491000	0.60326	0.593000	0.29745	0.591000	0.81541	AGA		0.458	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1		NM_015061		142	57	0	0	0	0.01441	0	142	57		
TMEM261	90871	broad.mit.edu	37	9	7799696	7799696	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:7799696G>A	ENST00000358227.4	-	1	371	c.39C>T	c.(37-39)atC>atT	p.I13I	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261	13						integral component of membrane (GO:0016021)											GAGGCGCAGTGATATAGGACT	0.637																																						uc003zki.2		NaN																	0					0						c.(37-39)ATC>ATT		Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867.							23.0	25.0	24.0					9																	7799696		2203	4300	6503	SO:0001819	synonymous_variant	90871					integral to membrane		g.chr9:7799696G>A	BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 123"""	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.39C>T	9.37:g.7799696G>A						C9orf123_uc003zkj.2_Silent_p.I13I	p.I13I			Q96GE9	CI123_HUMAN		GBM - Glioblastoma multiforme(50;0.0561)	1	83	-		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)	13					A8K9B7|Q5T6Y9|Q9NT74	Silent	SNP	ENST00000358227.4	37	c.39C>T	CCDS34989.1																																																																																				0.637	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051705.1		NM_033428		21	7	0	0	0	0.008871	0	21	7		
MPDZ	8777	broad.mit.edu	37	9	13143491	13143491	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:13143491C>T	ENST00000319217.7	-	27	4061	c.3814G>A	c.(3814-3816)Gac>Aac	p.D1272N	MPDZ_ENST00000541718.1_Missense_Mutation_p.D1272N|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1272N|MPDZ_ENST00000538841.1_Intron|MPDZ_ENST00000447879.1_Intron|MPDZ_ENST00000536827.1_Intron|MPDZ_ENST00000540202.1_5'Flank|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1272N|MPDZ_ENST00000546205.1_Missense_Mutation_p.D1286N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1272					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGTAGAGAGTCAGCAAATGGG	0.428																																						uc010mia.1		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(3814-3816)GAC>AAC		multiple PDZ domain protein							211.0	205.0	207.0					9																	13143491		1978	4165	6143	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13143491C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3814G>A	9.37:g.13143491C>T	ENSP00000320006:p.Asp1272Asn					MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Intron|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.D1272N|MPDZ_uc010mhz.2_Intron|MPDZ_uc011lmn.1_Intron|MPDZ_uc003zlb.3_Missense_Mutation_p.D1272N	p.D1272N	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	26	3871	-			1272					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3814G>A		.	.	.	.	.	.	.	.	.	.	C	20.2	3.957497	0.73902	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000381015;ENST00000546205;ENST00000542239	T;T;T;T;T;T	0.57436	2.87;2.82;2.82;2.87;2.86;0.4	6.16	6.16	0.99307	.	0.423459	0.19756	N	0.106785	T	0.54951	0.1890	L	0.50333	1.59	0.80722	D	1	B	0.31548	0.328	B	0.38106	0.265	T	0.43845	-0.9366	10	0.25751	T	0.34	.	19.0404	0.92997	0.0:1.0:0.0:0.0	.	1272	O75970-2	.	N	1272;1272;1272;1272;1286;127	ENSP00000320006:D1272N;ENSP00000439807:D1272N;ENSP00000370410:D1272N;ENSP00000370403:D1272N;ENSP00000446358:D1286N;ENSP00000443672:D127N	ENSP00000320006:D1272N	D	-	1	0	MPDZ	13133491	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.323000	0.59221	2.937000	0.99478	0.650000	0.86243	GAC		0.428	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		82	52	0	0	0	0.01441	0	82	52		
DNAJA1	3301	broad.mit.edu	37	9	33026956	33026956	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:33026956G>A	ENST00000330899.4	+	3	461	c.278G>A	c.(277-279)gGa>gAa	p.G93E	APTX_ENST00000473270.1_5'Flank|DNAJA1_ENST00000544625.1_Intron|DNAJA1_ENST00000495015.1_Intron	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	93	Gly-rich.				androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		ATGTTTTTTGGAGGAGGAGGA	0.438																																						uc003zsd.1		NaN																	0					0						c.(277-279)GGA>GAA		DnaJ (Hsp40) homolog, subfamily A, member 1							60.0	63.0	62.0					9																	33026956		2203	4300	6503	SO:0001583	missense	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33026956G>A	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.278G>A	9.37:g.33026956G>A	ENSP00000369127:p.Gly93Glu					DNAJA1_uc011lnt.1_Intron|DNAJA1_uc003zse.1_Missense_Mutation_p.G93E|APTX_uc003zrz.2_5'Flank	p.G93E	NM_001539	NP_001530	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	3	461	+			93			Gly-rich.		Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	c.278G>A	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038177	0.75617	.	.	ENSG00000086061	ENST00000330899	T	0.75477	-0.94	4.79	3.86	0.44501	Heat shock protein DnaJ, N-terminal (2);	0.104471	0.64402	D	0.000004	D	0.84401	0.5464	H	0.94847	3.59	0.80722	D	1	P;P	0.50443	0.935;0.935	B;P	0.49361	0.356;0.608	D	0.87934	0.2712	10	0.87932	D	0	-9.847	12.2713	0.54708	0.0:0.0:0.8289:0.1711	.	93;93	Q86TL9;P31689	.;DNJA1_HUMAN	E	93	ENSP00000369127:G93E	ENSP00000369127:G93E	G	+	2	0	DNAJA1	33016956	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	1.111000	0.41721	0.462000	0.41574	GGA		0.438	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1				60	32	0	0	0	0.01441	0	60	32		
CHMP5	51510	broad.mit.edu	37	9	33264454	33264454	+	5'Flank	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:33264454C>T	ENST00000223500.8	+	0	0				BAG1_ENST00000472232.3_Silent_p.K73K|BAG1_ENST00000379704.2_5'UTR|CHMP5_ENST00000419016.2_5'Flank	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			GGGTTTTCTTCTTCATCCGCG	0.701																																						uc003zsj.2		NaN																	0				ovary(1)	1						c.(217-219)AAG>AAA		BCL2-associated athanogene isoform 1L							23.0	24.0	24.0					9																	33264454		2203	4300	6503	SO:0001631	upstream_gene_variant	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33264454C>T	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765		9.37:g.33264454C>T	Exception_encountered					SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_5'UTR|BAG1_uc003zsk.2_5'UTR|CHMP5_uc003zsl.3_5'UTR|CHMP5_uc003zsm.3_5'Flank|CHMP5_uc011lnv.1_5'Flank	p.K73K	NM_004323	NP_004314	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		1	308	-			73			Arg-rich.		B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Silent	SNP	ENST00000223500.8	37	c.219G>A	CCDS6537.1																																																																																				0.701	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3		NM_016410		16	16	0	0	0	0.00499	0	16	16		
DCAF12	25853	broad.mit.edu	37	9	34125197	34125197	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:34125197G>A	ENST00000361264.4	-	2	498	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	53					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CTGACTTCCCGGTTCTTCAAG	0.453																																						uc003ztt.2		NaN																	0					0						c.(157-159)CGG>TGG		DDB1 and CUL4 associated factor 12							93.0	88.0	90.0					9																	34125197		2203	4300	6503	SO:0001583	missense	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34125197G>A	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.157C>T	9.37:g.34125197G>A	ENSP00000355114:p.Arg53Trp						p.R53W	NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN			2	499	-			53					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.157C>T	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853911	0.71719	.	.	ENSG00000198876	ENST00000361264;ENST00000396990;ENST00000450964	T;T;T	0.79352	0.79;-1.26;0.2	4.76	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.86138	0.5861	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86944	0.2081	10	0.87932	D	0	-18.2592	10.377	0.44088	0.0:0.0:0.6078:0.3921	.	53	Q5T6F0	DCA12_HUMAN	W	53;35;32	ENSP00000355114:R53W;ENSP00000380187:R35W;ENSP00000415833:R32W	ENSP00000355114:R53W	R	-	1	2	DCAF12	34115197	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	3.475000	0.53136	2.477000	0.83638	0.655000	0.94253	CGG		0.453	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2		NM_015397		75	56	0	0	0	0.01441	0	75	56		
CCL21	6366	broad.mit.edu	37	9	34709845	34709845	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:34709845C>G	ENST00000259607.2	-	2	174	c.117G>C	c.(115-117)aaG>aaC	p.K39N	CCL21_ENST00000378792.1_Missense_Mutation_p.K39N	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	39					activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TGGCGGGAATCTTCCTTTGGC	0.592																																						uc003zvo.2		NaN																	0					0						c.(115-117)AAG>AAC		small inducible cytokine A21 precursor							91.0	82.0	85.0					9																	34709845		2203	4300	6503	SO:0001583	missense	6366				activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity	g.chr9:34709845C>G	AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"""Chemokine ligands"", ""Endogenous ligands"""	10620	protein-coding gene	gene with protein product	"""beta chemokine exodus-2"", ""secondary lymphoid tissue chemokine"", ""Efficient Chemoattractant for Lymphocytes"""	602737	"""small inducible cytokine subfamily A (Cys-Cys), member 21"""	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.117G>C	9.37:g.34709845C>G	ENSP00000259607:p.Lys39Asn						p.K39N	NM_002989	NP_002980	O00585	CCL21_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	2	201	-	all_epithelial(49;0.0899)		39						Missense_Mutation	SNP	ENST00000259607.2	37	c.117G>C	CCDS6571.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606304	0.66445	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.05996	3.36;3.36	5.6	-0.0256	0.13934	Chemokine interleukin-8-like domain (3);	0.320151	0.27100	N	0.020924	T	0.18882	0.0453	M	0.88241	2.94	0.26115	N	0.980636	D	0.61080	0.989	P	0.59357	0.856	T	0.05989	-1.0852	10	0.30854	T	0.27	-0.2422	7.3846	0.26874	0.0:0.3922:0.4529:0.1549	.	39	O00585	CCL21_HUMAN	N	39	ENSP00000259607:K39N;ENSP00000368069:K39N	ENSP00000259607:K39N	K	-	3	2	CCL21	34699845	0.604000	0.26932	0.526000	0.27913	0.997000	0.91878	0.429000	0.21412	0.075000	0.16796	0.655000	0.94253	AAG		0.592	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052245.1		NM_002989		61	23	0	0	0	0.01441	0	61	23		
TLN1	7094	broad.mit.edu	37	9	35732998	35732998	+	5'Flank	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:35732998G>A	ENST00000314888.9	-	0	0				CREB3_ENST00000353704.2_Silent_p.P45P|TLN1_ENST00000540444.1_5'Flank|CREB3_ENST00000486056.1_3'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGCAGGTACCGAGCGACTGGG	0.562																																						uc003zxv.2		NaN																	0					0						c.(133-135)CCG>CCA		cAMP responsive element binding protein 3							160.0	167.0	164.0					9																	35732998		2203	4300	6503	SO:0001631	upstream_gene_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr9:35732998G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35732998G>A	Exception_encountered					TLN1_uc003zxt.2_5'Flank|TLN1_uc003zxu.3_5'Flank|CREB3_uc010mla.2_5'UTR	p.P45P	NM_006368	NP_006359	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	2	588	+	all_epithelial(49;0.167)		45			Cytoplasmic (Potential).|Transcription activation (acidic).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.135G>A	CCDS35009.1																																																																																				0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2		NM_006289		79	38	0	0	0	0.01441	0	79	38		
ZBTB5	9925	broad.mit.edu	37	9	37441574	37441574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:37441574C>T	ENST00000307750.4	-	2	1163	c.975G>A	c.(973-975)atG>atA	p.M325I		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CCACCACTCTCATGTGCTCCT	0.507																																						uc003zzx.2		NaN																	0				ovary(2)	2						c.(973-975)ATG>ATA		zinc finger and BTB domain containing 5							111.0	105.0	107.0					9																	37441574		2203	4300	6503	SO:0001583	missense	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37441574C>T	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.975G>A	9.37:g.37441574C>T	ENSP00000307604:p.Met325Ile						p.M325I	NM_014872	NP_055687	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	1175	-			325						Missense_Mutation	SNP	ENST00000307750.4	37	c.975G>A	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573976	0.28092	.	.	ENSG00000168795	ENST00000307750	T	0.08458	3.09	5.49	5.49	0.81192	.	0.340327	0.34700	N	0.003758	T	0.07954	0.0199	N	0.24115	0.695	0.43868	D	0.996477	B	0.02656	0.0	B	0.01281	0.0	T	0.37686	-0.9695	10	0.22706	T	0.39	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	325	O15062	ZBTB5_HUMAN	I	325	ENSP00000307604:M325I	ENSP00000307604:M325I	M	-	3	0	ZBTB5	37431574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.773000	0.75006	2.865000	0.98341	0.655000	0.94253	ATG		0.507	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1		NM_014872		28	169	0	0	0	0.009535	0	28	169		
DCAF10	79269	broad.mit.edu	37	9	37842126	37842126	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:37842126A>T	ENST00000377724.3	+	3	1059	c.694A>T	c.(694-696)Act>Tct	p.T232S	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Missense_Mutation_p.T232S	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	232					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CTCTGATGACACTACAATAGC	0.358																																						uc004aao.2		NaN																	0				central_nervous_system(1)	1						c.(694-696)ACT>TCT		WD repeat domain 32							153.0	135.0	141.0					9																	37842126		2203	4300	6503	SO:0001583	missense	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37842126A>T	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.694A>T	9.37:g.37842126A>T	ENSP00000366953:p.Thr232Ser					DCAF10_uc010mlz.2_Missense_Mutation_p.T59S	p.T232S	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN			3	768	+			232			WD 2.		A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	c.694A>T	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	A	15.46	2.838703	0.51057	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.58940	0.3;0.3	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39036	0.1063	N	0.16656	0.425	0.80722	D	1	B;P	0.38420	0.008;0.63	B;B	0.34873	0.007;0.191	T	0.29150	-1.0021	10	0.20519	T	0.43	.	13.5459	0.61705	1.0:0.0:0.0:0.0	.	232;232	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	S	232	ENSP00000366953:T232S;ENSP00000242323:T232S	ENSP00000242323:T232S	T	+	1	0	DCAF10	37832126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.935000	0.92923	2.095000	0.63458	0.533000	0.62120	ACT		0.358	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2		NM_024345		97	49	0	0	0	0.01441	0	97	49		
PTAR1	375743	broad.mit.edu	37	9	72349085	72349085	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:72349085G>A	ENST00000340434.4	-	4	412	c.409C>T	c.(409-411)Cca>Tca	p.P137S	PTAR1_ENST00000377200.5_Missense_Mutation_p.P58S	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	137					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						CATGTTTCTGGACTCTTTGGA	0.388																																						uc004ahj.3		NaN																	0				central_nervous_system(1)	1						c.(409-411)CCA>TCA		protein prenyltransferase alpha subunit repeat							105.0	102.0	103.0					9																	72349085		1834	4083	5917	SO:0001583	missense	375743				protein prenylation		protein prenyltransferase activity	g.chr9:72349085G>A	BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.409C>T	9.37:g.72349085G>A	ENSP00000344299:p.Pro137Ser					PTAR1_uc004ahi.2_Missense_Mutation_p.P58S	p.P137S	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN			4	431	-			137			PFTA 2.		Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	c.409C>T	CCDS47978.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682203	0.68042	.	.	ENSG00000188647	ENST00000377200;ENST00000340434	T;T	0.44482	0.92;0.92	5.96	5.96	0.96718	Protein prenyltransferase (1);	0.051091	0.85682	D	0.000000	T	0.39306	0.1073	N	0.14661	0.345	0.80722	D	1	D	0.52996	0.957	P	0.53593	0.73	T	0.07102	-1.0790	10	0.07644	T	0.81	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	137	Q7Z6K3	PTAR1_HUMAN	S	58;137	ENSP00000366405:P58S;ENSP00000344299:P137S	ENSP00000344299:P137S	P	-	1	0	PTAR1	71538905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.310000	0.96267	2.831000	0.97527	0.650000	0.86243	CCA		0.388	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4		NM_001099666		35	40	0	0	0	0.013726	0	35	40		
SMC5	23137	broad.mit.edu	37	9	72930468	72930468	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:72930468G>A	ENST00000361138.5	+	13	1838	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	594	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TGTAGGAACTGAAAAGACCAG	0.353																																						uc004ahr.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1780-1782)GAA>AAA		SMC5 protein							64.0	63.0	64.0					9																	72930468		2203	4297	6500	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72930468G>A	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1780G>A	9.37:g.72930468G>A	ENSP00000354957:p.Glu594Lys						p.E594K	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN			13	1897	+			594			Flexible hinge.		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.1780G>A	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283188	0.95489	.	.	ENSG00000198887	ENST00000361138	T	0.17370	2.28	5.95	5.95	0.96441	RecF/RecN/SMC (1);	0.110175	0.64402	D	0.000011	T	0.27278	0.0669	L	0.41824	1.3	0.80722	D	1	D	0.64830	0.994	P	0.57009	0.811	T	0.00690	-1.1608	10	0.17832	T	0.49	-16.9782	17.2959	0.87170	0.0:0.1249:0.8751:0.0	.	594	Q8IY18	SMC5_HUMAN	K	594	ENSP00000354957:E594K	ENSP00000354957:E594K	E	+	1	0	SMC5	72120288	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.831000	0.75324	2.824000	0.97209	0.655000	0.94253	GAA		0.353	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1		NM_015110		50	49	0	0	0	0.01441	0	50	49		
ALDH1A1	216	broad.mit.edu	37	9	75567869	75567869	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:75567869C>T	ENST00000297785.3	-	1	102	c.48G>A	c.(46-48)ttG>ttA	p.L16L	ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Silent_p.L16L	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	16					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	ATTGAATCTTCAAATCGGTGA	0.403																																						uc004ajd.2		NaN																	0				ovary(3)|lung(1)	4						c.(46-48)TTG>TTA		aldehyde dehydrogenase 1A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						104.0	95.0	98.0					9																	75567869		2203	4299	6502	SO:0001819	synonymous_variant	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75567869C>T	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.48G>A	9.37:g.75567869C>T						ALDH1A1_uc011lsh.1_Intron	p.L16L	NM_000689	NP_000680	P00352	AL1A1_HUMAN			1	101	-			16					O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	c.48G>A	CCDS6644.1																																																																																				0.403	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1				23	44	0	0	0	0.003954	0	23	44		
TRPM6	140803	broad.mit.edu	37	9	77354857	77354857	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:77354857A>G	ENST00000360774.1	-	34	5506	c.5269T>C	c.(5269-5271)Tct>Cct	p.S1757P	TRPM6_ENST00000376864.4_Missense_Mutation_p.S1761P|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1752P|TRPM6_ENST00000376871.3_Missense_Mutation_p.S594P|TRPM6_ENST00000376872.3_Missense_Mutation_p.S712P|TRPM6_ENST00000449912.2_Missense_Mutation_p.S1752P|TRPM6_ENST00000451710.3_Missense_Mutation_p.S1761P	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1757	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGAGACCAAGAGGACATGCTT	0.493																																						uc004ajl.1		NaN																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(5269-5271)TCT>CCT		transient receptor potential cation channel,							90.0	77.0	81.0					9																	77354857		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354857A>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5269T>C	9.37:g.77354857A>G	ENSP00000354006:p.Ser1757Pro					TRPM6_uc004ajk.1_Missense_Mutation_p.S1752P|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.S708P|TRPM6_uc010mpd.1_Missense_Mutation_p.S590P|TRPM6_uc010mpe.1_Missense_Mutation_p.S304P|TRPM6_uc004ajj.1_Missense_Mutation_p.S713P	p.S1757P	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			34	5507	-			1757			Alpha-type protein kinase.|Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5269T>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259973	0.80246	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31;3.31	5.96	5.96	0.96718	MHCK/EF2 kinase (2);Protein kinase-like domain (1);	0.206522	0.52532	D	0.000078	T	0.23094	0.0558	L	0.57536	1.79	0.47584	D	0.999462	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.988;0.988;0.993;0.995;0.969;0.998	T	0.00110	-1.2048	10	0.87932	D	0	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	304;590;708;1757;1752;1752	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	P	1757;1761;712;594;1752;1752;303;1761	ENSP00000354006:S1757P;ENSP00000407341:S1761P;ENSP00000366068:S712P;ENSP00000366067:S594P;ENSP00000396672:S1752P;ENSP00000354962:S1752P;ENSP00000366060:S1761P	ENSP00000354006:S1757P	S	-	1	0	TRPM6	76544677	1.000000	0.71417	0.970000	0.41538	0.985000	0.73830	5.820000	0.69250	2.285000	0.76669	0.533000	0.62120	TCT		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1		NM_017662		37	50	0	0	0	0.004878	0	37	50		
OSTF1	26578	broad.mit.edu	37	9	77732450	77732450	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:77732450C>T	ENST00000346234.6	+	2	215	c.65C>T	c.(64-66)aCg>aTg	p.T22M		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	22	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						GCCCTGTATACGTTTGAACCC	0.328																																						uc004ajv.3		NaN																	0				skin(1)	1						c.(64-66)ACG>ATG		osteoclast stimulating factor 1							59.0	60.0	59.0					9																	77732450		2203	4300	6503	SO:0001583	missense	26578				ossification|signal transduction	cytoplasm	identical protein binding	g.chr9:77732450C>T	U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996		"""Ankyrin repeat domain containing"""	8510	protein-coding gene	gene with protein product		610180				10092216	Standard	NM_012383		Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.65C>T	9.37:g.77732450C>T	ENSP00000340836:p.Thr22Met					OSTF1_uc004ajw.3_Intron|OSTF1_uc004ajx.3_Missense_Mutation_p.T25M	p.T22M	NM_012383	NP_036515	Q92882	OSTF1_HUMAN			2	276	+			22			SH3.		Q5W126|Q96IJ4	Missense_Mutation	SNP	ENST00000346234.6	37	c.65C>T	CCDS6651.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335236	0.41398	.	.	ENSG00000134996	ENST00000346234	T	0.48201	0.82	5.57	5.57	0.84162	Src homology-3 domain (5);	0.044055	0.85682	D	0.000000	T	0.64516	0.2605	L	0.59436	1.845	0.58432	D	0.999998	P;D	0.89917	0.892;1.0	B;D	0.74348	0.119;0.983	T	0.62941	-0.6747	10	0.49607	T	0.09	-11.1415	15.3981	0.74812	0.0:1.0:0.0:0.0	.	22;22	A8K646;Q92882	.;OSTF1_HUMAN	M	22	ENSP00000340836:T22M	ENSP00000340836:T22M	T	+	2	0	OSTF1	76922270	0.995000	0.38212	0.977000	0.42913	0.886000	0.51366	4.232000	0.58645	2.779000	0.95612	0.591000	0.81541	ACG		0.328	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052704.1		NM_012383		14	96	0	0	0	0.00245	0	14	96		
GNA14	9630	broad.mit.edu	37	9	80262634	80262634	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:80262634G>A	ENST00000341700.6	-	1	589	c.76C>T	c.(76-78)Cgt>Tgt	p.R26C		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	26					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TTGTCCCGACGAAGCTGTCGC	0.657																																						uc004aku.2		NaN																	0				ovary(2)	2						c.(76-78)CGT>TGT		G alpha 14							30.0	29.0	30.0					9																	80262634		2201	4299	6500	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80262634G>A	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.76C>T	9.37:g.80262634G>A	ENSP00000365807:p.Arg26Cys						p.R26C	NM_004297	NP_004288	O95837	GNA14_HUMAN			1	599	-			26					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.76C>T	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499453	0.96355	.	.	ENSG00000156049	ENST00000341700	D	0.89681	-2.55	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95680	0.8595	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.96485	0.9359	10	0.87932	D	0	.	18.5729	0.91142	0.0:0.0:1.0:0.0	.	26	O95837	GNA14_HUMAN	C	26	ENSP00000365807:R26C	ENSP00000365807:R26C	R	-	1	0	GNA14	79452454	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	9.053000	0.93860	2.480000	0.83734	0.561000	0.74099	CGT		0.657	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1				3	9	0	0	0	0.009096	0	3	9		
GNA14	9630	broad.mit.edu	37	9	80262682	80262682	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:80262682C>T	ENST00000341700.6	-	1	541	c.28G>A	c.(28-30)Gag>Aag	p.E10K		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	10					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCCTTCTCCTCCGCGGACAGG	0.701																																						uc004aku.2		NaN																	0				ovary(2)	2						c.(28-30)GAG>AAG		G alpha 14							22.0	21.0	21.0					9																	80262682		2202	4299	6501	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80262682C>T	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.28G>A	9.37:g.80262682C>T	ENSP00000365807:p.Glu10Lys						p.E10K	NM_004297	NP_004288	O95837	GNA14_HUMAN			1	551	-			10					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.28G>A	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	37	6.261161	0.97421	.	.	ENSG00000156049	ENST00000341700	D	0.89196	-2.48	4.93	4.93	0.64822	.	0.225081	0.43747	N	0.000527	D	0.92237	0.7538	L	0.60904	1.88	0.58432	D	0.999997	P	0.52170	0.951	P	0.58172	0.834	D	0.93063	0.6476	10	0.87932	D	0	.	17.9055	0.88917	0.0:1.0:0.0:0.0	.	10	O95837	GNA14_HUMAN	K	10	ENSP00000365807:E10K	ENSP00000365807:E10K	E	-	1	0	GNA14	79452502	1.000000	0.71417	0.954000	0.39281	0.982000	0.71751	6.988000	0.76212	2.550000	0.86006	0.655000	0.94253	GAG		0.701	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1				4	7	0	0	0	0.000602	0	4	7		
TLE1	7088	broad.mit.edu	37	9	84202699	84202699	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:84202699G>C	ENST00000376499.3	-	17	2938	c.1874C>G	c.(1873-1875)tCt>tGt	p.S625C		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	625					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCATCATTAGAAATGTCAAT	0.532																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004aly.2		NaN																	0				ovary(1)|skin(1)	2						c.(1873-1875)TCT>TGT		transducin-like enhancer protein 1							82.0	81.0	81.0					9																	84202699		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84202699G>C		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1874C>G	9.37:g.84202699G>C	ENSP00000365682:p.Ser625Cys					TLE1_uc004alz.2_Missense_Mutation_p.S635C|TLE1_uc011lsr.1_Missense_Mutation_p.S610C	p.S625C	NM_005077	NP_005068	Q04724	TLE1_HUMAN			17	2315	-			625			WD 4.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.1874C>G	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	g	30	5.053055	0.93793	.	.	ENSG00000196781	ENST00000376499	T	0.16457	2.34	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63184	-0.6694	10	0.87932	D	0	-16.9935	19.9738	0.97296	0.0:0.0:1.0:0.0	.	610;625	B4DEF9;Q04724	.;TLE1_HUMAN	C	625	ENSP00000365682:S625C	ENSP00000365682:S625C	S	-	2	0	TLE1	83392519	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.869000	0.99810	2.732000	0.93576	0.655000	0.94253	TCT		0.532	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1		NM_005077		47	23	0	0	0	0.013114	0	47	23		
HNRNPK	3190	broad.mit.edu	37	9	86587870	86587870	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:86587870G>C	ENST00000376264.2	-	10	792	c.534C>G	c.(532-534)atC>atG	p.I178M	HNRNPK_ENST00000360384.5_Missense_Mutation_p.I178M|HNRNPK_ENST00000351839.3_Missense_Mutation_p.I178M|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376281.4_Missense_Mutation_p.I178M|HNRNPK_ENST00000376263.3_Missense_Mutation_p.I178M	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	178	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGAAAAGCTTGATGGTGGTTT	0.353																																						uc004ang.3		NaN																	0				skin(1)	1						c.(532-534)ATC>ATG		heterogeneous nuclear ribonucleoprotein K							46.0	47.0	47.0					9																	86587870		2200	4300	6500	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86587870G>C		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.534C>G	9.37:g.86587870G>C	ENSP00000365440:p.Ile178Met					HNRNPK_uc011lsw.1_Translation_Start_Site|HNRNPK_uc004and.3_Translation_Start_Site|HNRNPK_uc004ank.3_Missense_Mutation_p.I178M|HNRNPK_uc004anf.3_Missense_Mutation_p.I178M|HNRNPK_uc004anh.3_Missense_Mutation_p.I154M|HNRNPK_uc011lsx.1_Missense_Mutation_p.I154M|HNRNPK_uc004ani.3_Missense_Mutation_p.I178M|HNRNPK_uc004anj.3_Missense_Mutation_p.I178M|HNRNPK_uc004ann.3_Missense_Mutation_p.I154M|HNRNPK_uc004anl.3_Missense_Mutation_p.I178M|HNRNPK_uc004anm.3_Missense_Mutation_p.I178M	p.I178M	NM_031262	NP_112552	P61978	HNRPK_HUMAN			10	758	-			178			5 X 4 AA repeats of G-X-G-G.|Necessary for interaction with DDX1.|2 X 22 AA approximate repeats.|Interaction with ASFV p30.|KH 2.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.534C>G	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.531066	0.45073	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31	5.13	5.13	0.70059	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	M	0.70842	2.15	0.51012	D	0.999905	P;P;P;P;P;P;P;P	0.49307	0.81;0.81;0.845;0.906;0.862;0.773;0.922;0.886	P;P;P;P;P;P;P;P	0.57911	0.642;0.642;0.714;0.732;0.737;0.509;0.794;0.829	T	0.70506	-0.4853	10	0.87932	D	0	-3.0472	5.1899	0.15205	0.1251:0.0:0.6747:0.2001	.	154;143;178;173;178;154;178;178	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	M	178;178;178;178;178;143;178;173;154;109	ENSP00000365458:I178M;ENSP00000365440:I178M;ENSP00000365439:I178M;ENSP00000317788:I178M;ENSP00000353552:I178M;ENSP00000409456:I154M	ENSP00000317788:I178M	I	-	3	3	HNRNPK	85777690	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.016000	0.57159	2.375000	0.81037	0.655000	0.94253	ATC		0.353	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2				21	95	0	0	0	0.010504	0	21	95		
SLC28A3	64078	broad.mit.edu	37	9	86912168	86912168	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:86912168C>T	ENST00000376238.4	-	8	878	c.829G>A	c.(829-831)Gag>Aag	p.E277K	SLC28A3_ENST00000537648.1_Missense_Mutation_p.E208K	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	277					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TTGTATTTCTCACCAAAGACA	0.373																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(829-831)GAG>AAG		concentrative Na+-nucleoside cotransporter							72.0	74.0	73.0					9																	86912168		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86912168C>T	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.829G>A	9.37:g.86912168C>T	ENSP00000365413:p.Glu277Lys					SLC28A3_uc011lsy.1_Missense_Mutation_p.E208K|SLC28A3_uc004anu.1_Missense_Mutation_p.E277K|SLC28A3_uc010mqb.2_Missense_Mutation_p.E208K	p.E277K	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			8	954	-			277			Extracellular (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.829G>A	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462906	0.63513	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.13538	2.58;2.58	5.57	4.66	0.58398	Na dependent nucleoside transporter (1);	0.373832	0.30244	N	0.010076	T	0.19366	0.0465	L	0.61036	1.89	0.43130	D	0.994868	B;B	0.25719	0.079;0.132	B;B	0.35899	0.213;0.213	T	0.02404	-1.1164	10	0.38643	T	0.18	-14.1762	11.821	0.52238	0.0:0.9184:0.0:0.0816	.	208;277	B4E2S8;Q9HAS3	.;S28A3_HUMAN	K	277;208	ENSP00000365413:E277K;ENSP00000446438:E208K	ENSP00000365413:E277K	E	-	1	0	SLC28A3	86101988	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	3.296000	0.51802	2.628000	0.89032	0.563000	0.77884	GAG		0.373	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1		NM_022127		52	43	0	0	0	0.01441	0	52	43		
ZCCHC6	79670	broad.mit.edu	37	9	88958054	88958054	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:88958054G>A	ENST00000375963.3	-	6	1194	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	ZCCHC6_ENST00000375948.1_5'Flank|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S341L|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S341L|ZCCHC6_ENST00000277141.6_5'UTR	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	341					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GCTACAGGATGACCCATATAA	0.303																																						uc004aoq.2		NaN																	0				ovary(2)	2						c.(1021-1023)TCA>TTA		zinc finger, CCHC domain containing 6							66.0	68.0	67.0					9																	88958054		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88958054G>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1022C>T	9.37:g.88958054G>A	ENSP00000365130:p.Ser341Leu					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.S341L|ZCCHC6_uc004aou.2_Missense_Mutation_p.S341L|ZCCHC6_uc004aov.2_Missense_Mutation_p.S341L|ZCCHC6_uc004aow.2_Missense_Mutation_p.S341L	p.S341L	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			6	1237	-			341					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1022C>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085052	0.94100	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.39406	1.08;1.08;1.08	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	M	0.73217	2.22	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	T	0.68953	-0.5273	10	0.87932	D	0	-6.1306	18.6626	0.91477	0.0:0.0:1.0:0.0	.	341;341;341;341	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	L	341	ENSP00000365127:S341L;ENSP00000365128:S341L;ENSP00000365130:S341L	ENSP00000365127:S341L	S	-	2	0	ZCCHC6	88147874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.679000	0.91220	2.629000	0.89072	0.650000	0.86243	TCA		0.303	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1		NM_024617		30	88	0	0	0	0.00632	0	30	88		
SPATA31E1	286234	broad.mit.edu	37	9	90500387	90500387	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:90500387C>T	ENST00000325643.5	+	4	1051	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	329					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATCCCAGCCACGGCATCTTCC	0.617																																						uc004app.3		NaN																	0				ovary(3)	3						c.(985-987)CGG>TGG		chromosome 9 open reading frame 79							48.0	51.0	50.0					9																	90500387		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90500387C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.985C>T	9.37:g.90500387C>T	ENSP00000322640:p.Arg329Trp					C9orf79_uc004apo.1_Missense_Mutation_p.R141W	p.R329W	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	1020	+			329					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.985C>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	8.046	0.764874	0.15914	.	.	ENSG00000177992	ENST00000325643	T	0.03553	3.89	2.19	0.153	0.14897	.	1.435330	0.04726	N	0.420210	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	P	0.46578	0.88	B	0.24269	0.052	T	0.40059	-0.9583	10	0.72032	D	0.01	.	3.6275	0.08119	0.1779:0.3458:0.4763:0.0	.	329	Q6ZUB1	CI079_HUMAN	W	329	ENSP00000322640:R329W	ENSP00000322640:R329W	R	+	1	2	C9orf79	89690207	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.089000	0.15002	0.025000	0.15241	-0.310000	0.09108	CGG		0.617	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2		NM_178828		18	10	0	0	0	0.010504	0	18	10		
SEMA4D	10507	broad.mit.edu	37	9	91994364	91994364	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:91994364G>A	ENST00000450295.1	-	16	2620	c.1844C>T	c.(1843-1845)tCa>tTa	p.S615L	SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S615L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S615L|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S615L|SEMA4D_ENST00000339861.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	615	Ig-like C2-type.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GTCTCCTTCTGACAAGTTGAA	0.527																																						uc004aqo.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1843-1845)TCA>TTA		semaphorin 4D isoform 1							233.0	239.0	237.0					9																	91994364		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91994364G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1844C>T	9.37:g.91994364G>A	ENSP00000416523:p.Ser615Leu					SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.S613L	p.S615L	NM_006378	NP_006369	Q92854	SEM4D_HUMAN			18	2416	-			615			Ig-like C2-type.|Extracellular (Potential).		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	c.1844C>T	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165379	0.38217	.	.	ENSG00000187764	ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.57	3.68	0.42216	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.495428	0.22542	N	0.058709	T	0.24236	0.0587	M	0.74258	2.255	0.28450	N	0.916369	B	0.31318	0.319	B	0.25884	0.064	T	0.11991	-1.0565	10	0.41790	T	0.15	.	12.8643	0.57932	0.0786:0.0:0.9214:0.0	.	615	Q92854	SEM4D_HUMAN	L	615	ENSP00000416523:S615L;ENSP00000405102:S615L;ENSP00000348822:S615L;ENSP00000388768:S615L	ENSP00000348822:S615L	S	-	2	0	SEMA4D	91184184	1.000000	0.71417	0.098000	0.21074	0.601000	0.36947	6.663000	0.74431	1.301000	0.44836	0.561000	0.74099	TCA		0.527	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1		NM_006378		302	175	0	0	0	0.01441	0	302	175		
GADD45G	10912	broad.mit.edu	37	9	92220696	92220696	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:92220696C>T	ENST00000252506.6	+	3	379	c.270C>T	c.(268-270)atC>atT	p.I90I	GADD45G_ENST00000375769.1_Silent_p.I72I|GADD45G_ENST00000494726.1_3'UTR	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	90					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)	2						AGAACGACATCGACATAGTGC	0.647																																					Colon(131;320 2336 18973 23919)	uc004aqq.2		NaN																	0					0						c.(268-270)ATC>ATT		growth arrest and DNA-damage-inducible, gamma							61.0	48.0	52.0					9																	92220696		2203	4300	6503	SO:0001819	synonymous_variant	10912				activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding	g.chr9:92220696C>T	D83023	CCDS6686.1	9q22.1-q22.2	2008-07-21			ENSG00000130222	ENSG00000130222			4097	protein-coding gene	gene with protein product	"""gadd-related protein, 17 kD"", ""growth arrest and DNA-damage-inducible gamma"""	604949				9827804, 10496071	Standard	NM_006705		Approved	DDIT2, GADD45gamma, GRP17, CR6	uc004aqq.3	O95257	OTTHUMG00000020187	ENST00000252506.6:c.270C>T	9.37:g.92220696C>T						GADD45G_uc004aqr.2_Silent_p.I72I	p.I90I	NM_006705	NP_006696	O95257	GA45G_HUMAN			3	380	+			90					Q5VZ87|Q9C076	Silent	SNP	ENST00000252506.6	37	c.270C>T	CCDS6686.1																																																																																				0.647	GADD45G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053000.1		NM_006705		13	33	0	0	0	0.001855	0	13	33		
BICD2	23299	broad.mit.edu	37	9	95482795	95482795	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:95482795G>C	ENST00000375512.3	-	4	916	c.849C>G	c.(847-849)ctC>ctG	p.L283L	BICD2_ENST00000356884.6_Silent_p.L283L	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	283					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACTGAACTTGAGGCCATCCA	0.577																																						uc004aso.1		NaN																	0				skin(1)	1						c.(847-849)CTC>CTG		bicaudal D homolog 2 isoform 2							169.0	157.0	161.0					9																	95482795		2203	4300	6503	SO:0001819	synonymous_variant	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95482795G>C	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.849C>G	9.37:g.95482795G>C						BICD2_uc004asp.1_Silent_p.L283L	p.L283L	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN			4	906	-			283					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Silent	SNP	ENST00000375512.3	37	c.849C>G	CCDS6700.1																																																																																				0.577	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1		NM_015250		43	35	0	0	0	0.00874	0	43	35		
WNK2	65268	broad.mit.edu	37	9	96024958	96024958	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:96024958G>A	ENST00000297954.4	+	13	3367	c.3367G>A	c.(3367-3369)Gcc>Acc	p.A1123T	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.A735T|WNK2_ENST00000395477.2_Missense_Mutation_p.A1123T|WNK2_ENST00000427277.2_Missense_Mutation_p.A735T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1123					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCAGGAGCAGGCCTCACAGGA	0.637																																						uc004ati.1		NaN																	0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(3367-3369)GCC>ACC		WNK lysine deficient protein kinase 2							44.0	43.0	43.0					9																	96024958		2202	4299	6501	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96024958G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3367G>A	9.37:g.96024958G>A	ENSP00000297954:p.Ala1123Thr					WNK2_uc011lud.1_Missense_Mutation_p.A1123T|WNK2_uc004atj.2_Missense_Mutation_p.A1123T|WNK2_uc004atk.2_Missense_Mutation_p.A760T	p.A1123T	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			13	3367	+			1123					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.3367G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.14|14.14	2.445370|2.445370	0.43429|0.43429	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T|.	0.34275|.	1.37;1.37;1.37;1.37|.	4.61|4.61	2.57|2.57	0.30868|0.30868	.|.	0.658594|.	0.15184|.	N|.	0.275974|.	T|T	0.32255|0.32255	0.0823|0.0823	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	D;B;D;D|.	0.65815|.	0.995;0.02;0.988;0.988|.	D;B;P;P|.	0.63033|.	0.91;0.011;0.829;0.76|.	T|T	0.04991|0.04991	-1.0913|-1.0913	10|5	0.13853|.	T|.	0.58|.	.|.	7.0065|7.0065	0.24840|0.24840	0.1009:0.0:0.7234:0.1756|0.1009:0.0:0.7234:0.1756	.|.	1123;726;1123;1123|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	T|D	1123;1123;735;735|726	ENSP00000297954:A1123T;ENSP00000378860:A1123T;ENSP00000297876:A735T;ENSP00000411181:A735T|.	ENSP00000297954:A1123T|.	A|G	+|+	1|2	0|0	WNK2|WNK2	95064779|95064779	0.993000|0.993000	0.37304|0.37304	0.897000|0.897000	0.35233|0.35233	0.886000|0.886000	0.51366|0.51366	1.988000|1.988000	0.40697|0.40697	1.121000|1.121000	0.41925|0.41925	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.637	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1		NM_006648		6	29	0	0	0	0.001984	0	6	29		
BARX1	56033	broad.mit.edu	37	9	96714549	96714549	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:96714549G>C	ENST00000253968.6	-	4	887	c.662C>G	c.(661-663)tCa>tGa	p.S221*	BARX1_ENST00000401724.1_Nonsense_Mutation_p.S67*	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	221					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|digestive system development (GO:0055123)|epithelial cell differentiation (GO:0030855)|negative regulation of Wnt signaling pathway (GO:0030178)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)	1						CGTTGGAATTGAGTTCTTCTT	0.687																																						uc010mrh.2		NaN																	0					0						c.(661-663)TCA>TGA		BARX homeobox 1							40.0	36.0	37.0					9																	96714549		2202	4300	6502	SO:0001587	stop_gained	56033					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:96714549G>C		CCDS35070.2	9q22.32	2011-06-20	2007-07-09		ENSG00000131668	ENSG00000131668		"""Homeoboxes / ANTP class : NKL subclass"""	955	protein-coding gene	gene with protein product		603260	"""BarH-like homeobox 1"""				Standard	NM_021570		Approved		uc010mrh.3	Q9HBU1	OTTHUMG00000020255	ENST00000253968.6:c.662C>G	9.37:g.96714549G>C	ENSP00000253968:p.Ser221*					BARX1_uc004aud.2_Nonsense_Mutation_p.S67*	p.S221*	NM_021570	NP_067545	Q9HBU1	BARX1_HUMAN			4	842	-			221					Q6P2R4|Q96GH8	Nonsense_Mutation	SNP	ENST00000253968.6	37	c.662C>G	CCDS35070.2	.	.	.	.	.	.	.	.	.	.	G	42	9.204799	0.99099	.	.	ENSG00000131668	ENST00000253968;ENST00000401724	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.7705	0.91890	0.0:0.0:1.0:0.0	.	.	.	.	X	221;67	.	ENSP00000253968:S221X	S	-	2	0	BARX1	95754370	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.090000	0.94144	2.677000	0.91161	0.561000	0.74099	TCA		0.687	BARX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053164.4				5	16	0	0	0	0.000602	0	5	16		
C9orf156	51531	broad.mit.edu	37	9	100672824	100672824	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:100672824C>T	ENST00000375119.3	-	4	560	c.484G>A	c.(484-486)Gag>Aag	p.E162K	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	162	TsaA-like. {ECO:0000255|PROSITE- ProRule:PRU01003}.				viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				GAGTCATACTCAGCTATGTAG	0.413																																						uc004axv.1		NaN																	0					0						c.(484-486)GAG>AAG		Nef associated protein 1							137.0	130.0	132.0					9																	100672824		2203	4300	6503	SO:0001583	missense	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100672824C>T	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.484G>A	9.37:g.100672824C>T	ENSP00000364260:p.Glu162Lys					C9orf156_uc004axw.1_Missense_Mutation_p.E59K|C9orf156_uc004axx.1_Missense_Mutation_p.E16K|C9orf156_uc010msq.1_Missense_Mutation_p.E59K	p.E162K	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN			4	561	-		Acute lymphoblastic leukemia(62;0.158)	162					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	c.484G>A	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097028	0.76870	.	.	ENSG00000136932	ENST00000375119;ENST00000375118;ENST00000325350	T;T	0.43688	0.94;0.94	5.09	5.09	0.68999	Uncharacterised domain UPF0066, YaeB-like domain (2);Uncharacterised domain UPF0066 (2);	0.315979	0.37623	N	0.002012	T	0.40272	0.1110	L	0.38733	1.17	0.58432	D	0.99999	P;P;B	0.46142	0.801;0.873;0.166	B;B;B	0.43990	0.438;0.385;0.167	T	0.37957	-0.9683	10	0.66056	D	0.02	-15.1923	16.371	0.83361	0.0:1.0:0.0:0.0	.	59;16;162	Q6Y2L2;Q5T114;Q9BU70	.;.;NAP1_HUMAN	K	162;16;59	ENSP00000364260:E162K;ENSP00000364259:E16K	ENSP00000324426:E59K	E	-	1	0	C9orf156	99712645	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	6.268000	0.72552	2.538000	0.85594	0.563000	0.77884	GAG		0.413	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1		NM_016481		44	28	0	0	0	0.011902	0	44	28		
COL15A1	1306	broad.mit.edu	37	9	101767278	101767278	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:101767278C>A	ENST00000375001.3	+	9	1722	c.1299C>A	c.(1297-1299)ccC>ccA	p.P433P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	433	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GTGTGGCCCCCGGGGAGCTGG	0.627																																						uc004azb.1		NaN																	0				ovary(6)	6						c.(1297-1299)CCC>CCA		alpha 1 type XV collagen precursor							60.0	60.0	60.0					9																	101767278		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101767278C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1299C>A	9.37:g.101767278C>A							p.P433P	NM_001855	NP_001846	P39059	COFA1_HUMAN			9	1505	+		Acute lymphoblastic leukemia(62;0.0562)	433			Nonhelical region 1 (NC1).|4 X tandem repeats.|2.		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.1299C>A	CCDS35081.1																																																																																				0.627	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3		NM_001855		3	70	1	0	0.004672	0.004672	0.0047375	3	70		
ALG2	85365	broad.mit.edu	37	9	101980576	101980576	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:101980576C>T	ENST00000476832.1	-	2	952	c.891G>A	c.(889-891)gtG>gtA	p.V297V	ALG2_ENST00000319033.6_Silent_p.V204V	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TCAAGAAGGTCACATACTGGC	0.478																																						uc004azf.2		NaN																	0				ovary(2)	2						c.(889-891)GTG>GTA		alpha-1,3-mannosyltransferase ALG2							106.0	86.0	93.0					9																	101980576		2203	4300	6503	SO:0001819	synonymous_variant	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980576C>T	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.891G>A	9.37:g.101980576C>T						ALG2_uc004azg.2_Silent_p.V204V	p.V297V	NM_033087	NP_149078	Q9H553	ALG2_HUMAN			2	961	-		Acute lymphoblastic leukemia(62;0.0559)	297					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Silent	SNP	ENST00000476832.1	37	c.891G>A	CCDS6739.1																																																																																				0.478	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1		NM_033087		22	90	0	0	0	0.012319	0	22	90		
CYLC2	1539	broad.mit.edu	37	9	105767772	105767772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:105767772G>A	ENST00000374798.3	+	5	929	c.859G>A	c.(859-861)Gat>Aat	p.D287N	CYLC2_ENST00000487798.1_Missense_Mutation_p.D287N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	287	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CTCAAAGGATgatgtcaagaa	0.398																																						uc004bbs.2		NaN																	0				skin(1)	1						c.(859-861)GAT>AAT		cylicin 2							91.0	86.0	88.0					9																	105767772		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767772G>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.859G>A	9.37:g.105767772G>A	ENSP00000420256:p.Asp287Asn						p.D287N	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			5	929	+		all_hematologic(171;0.125)	287			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.859G>A	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	G	7.292	0.611190	0.14066	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.16597	2.33;2.33	3.91	2.01	0.26516	.	1.899610	0.02807	N	0.123894	T	0.12987	0.0315	L	0.27053	0.805	0.09310	N	1	P	0.42518	0.782	B	0.40375	0.327	T	0.19321	-1.0309	10	0.18710	T	0.47	-0.877	4.762	0.13113	0.1146:0.0:0.6737:0.2117	.	287	Q14093	CYLC2_HUMAN	N	287	ENSP00000420256:D287N;ENSP00000417674:D287N	ENSP00000420256:D287N	D	+	1	0	CYLC2	104807593	0.248000	0.23930	0.000000	0.03702	0.020000	0.10135	2.477000	0.45180	0.393000	0.25203	0.585000	0.79938	GAT		0.398	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3		NM_001340		20	20	0	0	0	0.007413	0	20	20		
ABCA1	19	broad.mit.edu	37	9	107588035	107588035	+	Missense_Mutation	SNP	G	G	A	rs551884479		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:107588035G>A	ENST00000374736.3	-	17	2865	c.2471C>T	c.(2470-2472)tCg>tTg	p.S824L	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	824					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.S824L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CATGGAGACCGAAGTGGTGAG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20323	0.0		0.001	False		,,,				2504	0.0					uc004bcl.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(2470-2472)TCG>TTG		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						179.0	154.0	162.0					9																	107588035		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107588035G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2471C>T	9.37:g.107588035G>A	ENSP00000363868:p.Ser824Leu						p.S824L	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	17	2784	-			824					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.2471C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747455	0.89663	.	.	ENSG00000165029	ENST00000374736	D	0.90620	-2.7	5.39	5.39	0.77823	.	0.119721	0.64402	D	0.000016	D	0.91821	0.7412	L	0.46157	1.445	0.80722	D	1	P	0.51933	0.949	P	0.54889	0.763	D	0.89259	0.3596	10	0.23891	T	0.37	.	19.5095	0.95135	0.0:0.0:1.0:0.0	.	824	O95477	ABCA1_HUMAN	L	824	ENSP00000363868:S824L	ENSP00000363868:S824L	S	-	2	0	ABCA1	106627856	1.000000	0.71417	0.071000	0.20095	0.473000	0.32948	9.869000	0.99810	2.679000	0.91253	0.655000	0.94253	TCG		0.498	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1		NM_005502		74	35	0	0	0	0.01441	0	74	35		
KIAA0368	23392	broad.mit.edu	37	9	114195538	114195538	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:114195538C>T	ENST00000338205.5	-	7	1042	c.823G>A	c.(823-825)Gac>Aac	p.D275N	KIAA0368_ENST00000259335.4_Missense_Mutation_p.D453N			Q5VYK3	ECM29_HUMAN	KIAA0368	281					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AATTCCAGGTCTGCTGCCGTT	0.413																																						uc004bfe.1		NaN																	0					0						c.(1357-1359)GAC>AAC		KIAA0368 protein							104.0	100.0	101.0					9																	114195538		1913	4124	6037	SO:0001583	missense	23392							g.chr9:114195538C>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.823G>A	9.37:g.114195538C>T	ENSP00000339889:p.Asp275Asn					KIAA0368_uc010muc.1_Missense_Mutation_p.D275N	p.D453N	NM_001080398	NP_001073867					9	1357	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.1357G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.531899	0.96446	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.44881	0.91	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.58752	-0.7581	10	0.59425	D	0.04	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	281	Q5VYK3	ECM29_HUMAN	N	275;453	ENSP00000259335:D453N	ENSP00000259335:D453N	D	-	1	0	KIAA0368	113235359	1.000000	0.71417	0.976000	0.42696	0.928000	0.56348	7.456000	0.80751	2.817000	0.96982	0.563000	0.77884	GAC		0.413	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2		NM_014686		18	81	0	0	0	0.008871	0	18	81		
C9orf43	257169	broad.mit.edu	37	9	116187324	116187324	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:116187324G>T	ENST00000288462.4	+	9	1279	c.833G>T	c.(832-834)cGt>cTt	p.R278L	C9orf43_ENST00000374165.1_Missense_Mutation_p.R278L	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	278										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TATCCTGAACGTTTGAAGAAA	0.408																																						uc004bho.3		NaN																	0					0						c.(832-834)CGT>CTT		hypothetical protein LOC257169							122.0	110.0	114.0					9																	116187324		2203	4300	6503	SO:0001583	missense	257169							g.chr9:116187324G>T	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.833G>T	9.37:g.116187324G>T	ENSP00000288462:p.Arg278Leu					C9orf43_uc004bhp.2_Missense_Mutation_p.R278L	p.R278L	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN			9	1229	+			278						Missense_Mutation	SNP	ENST00000288462.4	37	c.833G>T	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.086974	0.36855	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.41758	0.99;0.99	4.11	-2.38	0.06622	.	0.908921	0.09197	N	0.835220	T	0.26159	0.0638	N	0.14661	0.345	0.09310	N	1	B	0.33940	0.433	B	0.37731	0.257	T	0.31420	-0.9944	10	0.39692	T	0.17	-2.258	9.0253	0.36224	0.4361:0.0:0.5639:0.0	.	278	Q8TAL5	CI043_HUMAN	L	278	ENSP00000363280:R278L;ENSP00000288462:R278L	ENSP00000288462:R278L	R	+	2	0	C9orf43	115227145	0.000000	0.05858	0.000000	0.03702	0.518000	0.34316	-0.037000	0.12164	-0.395000	0.07715	-0.455000	0.05494	CGT		0.408	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1		NM_152786		43	46	1	0	6.57855e-14	0.009718	6.89635e-14	43	46		
COL27A1	85301	broad.mit.edu	37	9	116925054	116925054	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:116925054G>A	ENST00000356083.3	+	2	513	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	41					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCCACCCAAGGAGCTCCTGAA	0.557																																						uc011lxl.1		NaN																	0				ovary(3)|skin(1)	4						c.(121-123)GGA>GAA		collagen, type XXVII, alpha 1 precursor							155.0	147.0	150.0					9																	116925054		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116925054G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.122G>A	9.37:g.116925054G>A	ENSP00000348385:p.Gly41Glu						p.G41E	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			2	122	+			41					Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.122G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768508	0.49680	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.89875	-2.58	5.32	4.42	0.53409	.	.	.	.	.	D	0.86045	0.5839	L	0.53249	1.67	0.40724	D	0.982683	B	0.21225	0.053	B	0.20184	0.028	D	0.83901	0.0290	9	0.87932	D	0	.	11.6823	0.51466	0.0865:0.0:0.9135:0.0	.	41	Q8IZC6	CORA1_HUMAN	E	41	ENSP00000348385:G41E	ENSP00000348385:G41E	G	+	2	0	COL27A1	115964875	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.718000	0.54919	1.245000	0.43885	0.555000	0.69702	GGA		0.557	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		NM_032888		80	61	0	0	0	0.01441	0	80	61		
ATP6V1G1	9550	broad.mit.edu	37	9	117359915	117359915	+	Silent	SNP	C	C	T	rs112425042	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:117359915C>T	ENST00000374050.3	+	3	342	c.249C>T	c.(247-249)atC>atT	p.I83I		NM_004888.3	NP_004879.1	O75348	VATG1_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1	83					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5						AGATGACCATCCTCCAGACAT	0.512																																						uc004bjc.2		NaN																	0					0						c.(247-249)ATC>ATT		vacuolar H+ ATPase G1							116.0	100.0	105.0					9																	117359915		2203	4300	6503	SO:0001819	synonymous_variant	9550				cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	g.chr9:117359915C>T	AF038954	CCDS6807.1	9q33.1	2010-04-21	2006-01-13	2002-05-10	ENSG00000136888	ENSG00000136888		"""ATPases / V-type"""	864	protein-coding gene	gene with protein product		607296	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 1"""	ATP6J, ATP6G1		9653160	Standard	NM_004888		Approved	ATP6GL, Vma10, ATP6G, DKFZp547P234	uc004bjc.3	O75348	OTTHUMG00000021023	ENST00000374050.3:c.249C>T	9.37:g.117359915C>T							p.I83I	NM_004888	NP_004879	O75348	VATG1_HUMAN			3	374	+			83					Q6IB33	Silent	SNP	ENST00000374050.3	37	c.249C>T	CCDS6807.1																																																																																				0.512	ATP6V1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055454.1		NM_004888		22	71	0	0	0	0.00278	0	22	71		
CNTRL	11064	broad.mit.edu	37	9	123924225	123924225	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:123924225G>A	ENST00000373855.1	+	33	5441	c.5181G>A	c.(5179-5181)gaG>gaA	p.E1727E	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Silent_p.E1727E|CNTRL_ENST00000373850.1_Silent_p.E1175E			Q7Z7A1	CNTRL_HUMAN	centriolin	1727					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTGAATTAGAGAAGACTCAGG	0.388																																						uc004bkx.1		NaN																	0					0						c.(5179-5181)GAG>GAA		centrosomal protein 110kDa							98.0	95.0	96.0					9																	123924225		2203	4300	6503	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123924225G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5181G>A	9.37:g.123924225G>A						CEP110_uc004blb.1_Silent_p.E396E|CEP110_uc010mvp.1_Intron	p.E1727E	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			31	5212	+			1727			Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.5181G>A	CCDS35118.1																																																																																				0.388	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1		NM_007018		57	52	0	0	0	0.01441	0	57	52		
RBM18	92400	broad.mit.edu	37	9	125023758	125023758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:125023758G>A	ENST00000417201.3	-	2	154	c.14C>T	c.(13-15)aCc>aTc	p.T5I	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	5							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						AAGAGTTTTGGTTTCTGCTTC	0.448																																						uc004bma.2		NaN																	0					0						c.(13-15)ACC>ATC		RNA binding motif protein 18							135.0	127.0	130.0					9																	125023758		2203	4300	6503	SO:0001583	missense	92400						nucleotide binding|RNA binding	g.chr9:125023758G>A	AK057676	CCDS6839.1	9q34.11	2013-02-12			ENSG00000119446	ENSG00000119446		"""RNA binding motif (RRM) containing"""	28413	protein-coding gene	gene with protein product						12477932	Standard	NM_033117		Approved	MGC2734	uc004bma.2	Q96H35	OTTHUMG00000020602	ENST00000417201.3:c.14C>T	9.37:g.125023758G>A	ENSP00000409315:p.Thr5Ile					RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	p.T5I	NM_033117	NP_149108	Q96H35	RBM18_HUMAN			2	180	-			5					B3KQ89	Missense_Mutation	SNP	ENST00000417201.3	37	c.14C>T	CCDS6839.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094385	0.56075	.	.	ENSG00000119446	ENST00000417201	T	0.12672	2.66	5.69	5.69	0.88448	.	0.278670	0.41194	D	0.000939	T	0.12305	0.0299	L	0.34521	1.04	0.32059	N	0.59599	B	0.11235	0.004	B	0.09377	0.004	T	0.04065	-1.0980	10	0.29301	T	0.29	-13.7261	15.1972	0.73100	0.0:0.1414:0.8586:0.0	.	5	Q96H35	RBM18_HUMAN	I	5	ENSP00000409315:T5I	ENSP00000409315:T5I	T	-	2	0	RBM18	124063579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.325000	0.43840	2.860000	0.98153	0.655000	0.94253	ACC		0.448	RBM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053928.2		NM_033117		38	27	0	0	0	0.005524	0	38	27		
PPP6C	5537	broad.mit.edu	37	9	127915852	127915852	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:127915852C>T	ENST00000373547.4	-	6	728	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	PPP6C_ENST00000451402.1_Missense_Mutation_p.R247Q|PPP6C_ENST00000373546.3_Missense_Mutation_p.R63Q|PPP6C_ENST00000415905.1_Missense_Mutation_p.R188Q	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	210					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ACCTGCTCCTCGGGGACTGAT	0.443																																						uc004bpg.3		NaN																	0				ovary(1)|skin(1)	2						c.(628-630)CGA>CAA		protein phosphatase 6, catalytic subunit isoform							74.0	70.0	72.0					9																	127915852		2203	4300	6503	SO:0001583	missense	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127915852C>T	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.629G>A	9.37:g.127915852C>T	ENSP00000362648:p.Arg210Gln					PPP6C_uc010mwv.2_Missense_Mutation_p.R247Q|PPP6C_uc010mww.2_Missense_Mutation_p.R188Q|PPP6C_uc011lzr.1_Missense_Mutation_p.R63Q	p.R210Q	NM_002721	NP_002712	O00743	PPP6_HUMAN			6	850	-			210					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.629G>A	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067539	0.93898	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.76	4.87	0.63330	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.056909	0.64402	N	0.000001	D	0.92051	0.7481	H	0.99961	5.07	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.97110	1.0;0.903;1.0	D	0.95204	0.8319	10	0.87932	D	0	-4.9787	14.0026	0.64442	0.0:0.9274:0.0:0.0726	.	188;247;210	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	Q	210;247;188;63	ENSP00000362648:R210Q;ENSP00000392147:R247Q;ENSP00000411744:R188Q;ENSP00000362647:R63Q	ENSP00000362647:R63Q	R	-	2	0	PPP6C	126955673	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.445000	0.80570	1.444000	0.47605	0.585000	0.79938	CGA		0.443	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1		NM_016294		10	71	0	0	0	0.006214	0	10	71		
GARNL3	84253	broad.mit.edu	37	9	130027210	130027210	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:130027210G>A	ENST00000373387.4	+	1	406	c.54G>A	c.(52-54)ctG>ctA	p.L18L	GARNL3_ENST00000435213.2_Intron|GARNL3_ENST00000314904.5_Silent_p.L18L	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	18					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GTATAATACTGATGAAGCATT	0.453																																						uc011mae.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(52-54)CTG>CTA		GTPase activating Rap/RanGAP domain-like 3							222.0	213.0	216.0					9																	130027210		2203	4300	6503	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130027210G>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.54G>A	9.37:g.130027210G>A						GARNL3_uc011mad.1_Intron	p.L18L	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			1	455	+			18					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.54G>A	CCDS6869.2																																																																																				0.453	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3		NM_032293		45	179	0	0	0	0.011902	0	45	179		
GARNL3	84253	broad.mit.edu	37	9	130083018	130083018	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:130083018G>A	ENST00000373387.4	+	6	880	c.528G>A	c.(526-528)gaG>gaA	p.E176E	GARNL3_ENST00000435213.2_Silent_p.E154E|GARNL3_ENST00000314904.5_Silent_p.E176E	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	176					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ACAAATTTGAGAAAGGCCCCA	0.358																																						uc011mae.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(526-528)GAG>GAA		GTPase activating Rap/RanGAP domain-like 3							53.0	54.0	54.0					9																	130083018		2202	4300	6502	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130083018G>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.528G>A	9.37:g.130083018G>A						GARNL3_uc011mad.1_Silent_p.E154E	p.E176E	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			6	929	+			176					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.528G>A	CCDS6869.2																																																																																				0.358	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3		NM_032293		8	62	0	0	0	0.004482	0	8	62		
ENG	2022	broad.mit.edu	37	9	130592029	130592029	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:130592029G>A	ENST00000373203.4	-	3	697	c.297C>T	c.(295-297)ctC>ctT	p.L99L	ENG_ENST00000344849.3_Silent_p.L99L|Y_RNA_ENST00000410489.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	99	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TGTTTACACTGAGGACCAGAA	0.602									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													uc004bsj.3		NaN																	0					0						c.(295-297)CTC>CTT		endoglin isoform 1 precursor							123.0	102.0	109.0					9																	130592029		2203	4300	6503	SO:0001819	synonymous_variant	2022	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130592029G>A	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.297C>T	9.37:g.130592029G>A						ENG_uc011mam.1_5'UTR|ENG_uc004bsk.3_Silent_p.L99L	p.L99L	NM_001114753	NP_001108225	P17813	EGLN_HUMAN			3	710	-			99			Extracellular (Potential).		Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	c.297C>T	CCDS48029.1																																																																																				0.602	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1				8	31	0	0	0	0.004482	0	8	31		
DNM1	1759	broad.mit.edu	37	9	130981398	130981398	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:130981398C>T	ENST00000372923.3	+	4	548	c.456C>T	c.(454-456)atC>atT	p.I152I	DNM1_ENST00000341179.7_Silent_p.I152I|DNM1_ENST00000393594.3_Silent_p.I152I|DNM1_ENST00000486160.1_Silent_p.I152I|DNM1_ENST00000475805.1_Silent_p.I152I	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	152	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCCCGACATCGAGTTCCAGA	0.617																																					GBM(113;146 1575 2722 28670 29921)	uc011mau.1		NaN																	0				ovary(2)	2						c.(454-456)ATC>ATT		dynamin 1 isoform 1							108.0	97.0	101.0					9																	130981398		2203	4300	6503	SO:0001819	synonymous_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130981398C>T	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.456C>T	9.37:g.130981398C>T						DNM1_uc010mxr.2_Silent_p.I152I|DNM1_uc011mat.1_Silent_p.I152I	p.I152I	NM_004408	NP_004399	Q05193	DYN1_HUMAN			4	543	+			152					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.456C>T	CCDS6895.1																																																																																				0.617	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1		NM_004408		37	115	0	0	0	0.003755	0	37	115		
GOLGA2	2801	broad.mit.edu	37	9	131019547	131019547	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:131019547C>T	ENST00000421699.2	-	26	2820	c.2808G>A	c.(2806-2808)gtG>gtA	p.V936V	GOLGA2_ENST00000609374.1_Silent_p.V924V|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	936					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CGGCGAGGCTCACCTCGCAAA	0.637																																						uc011maw.1		NaN																	0				ovary(1)	1						c.(2806-2808)GTG>GTA		Golgi autoantigen, golgin subfamily a, 2							30.0	32.0	31.0					9																	131019547		2203	4300	6503	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131019547C>T	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2808G>A	9.37:g.131019547C>T						GOLGA2_uc010mxw.2_Silent_p.V259V|GOLGA2_uc004buh.2_Intron	p.V936V	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			26	2821	-			936					Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.2808G>A	CCDS6896.2																																																																																				0.637	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2		NM_004486		33	22	0	0	0	0.00874	0	33	22		
CERCAM	51148	broad.mit.edu	37	9	131197963	131197963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:131197963G>A	ENST00000372838.4	+	12	1965	c.1567G>A	c.(1567-1569)Gac>Aac	p.D523N	CERCAM_ENST00000372842.1_Missense_Mutation_p.D445N	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	523					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CTGGCCACGGGACCTGGTGGC	0.657																																						uc004buz.3		NaN																	0				pancreas(1)	1						c.(1567-1569)GAC>AAC		cerebral endothelial cell adhesion molecule 1							48.0	41.0	43.0					9																	131197963		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131197963G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1567G>A	9.37:g.131197963G>A	ENSP00000361929:p.Asp523Asn					CERCAM_uc004buy.1_Missense_Mutation_p.D445N|CERCAM_uc010mxz.2_Missense_Mutation_p.D445N	p.D523N	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN			12	1965	+			523					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.1567G>A	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	9.860	1.195935	0.22037	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	T;T	0.76839	-1.05;-1.05	5.18	5.18	0.71444	.	0.121018	0.64402	D	0.000018	T	0.62502	0.2433	N	0.21448	0.665	0.49582	D	0.999809	B	0.27951	0.195	B	0.31442	0.13	T	0.57236	-0.7846	10	0.09338	T	0.73	-14.8882	10.8341	0.46677	0.0871:0.0:0.9129:0.0	.	523	Q5T4B2	GT253_HUMAN	N	445;523;476	ENSP00000361933:D445N;ENSP00000361929:D523N	ENSP00000361929:D523N	D	+	1	0	CERCAM	130237784	1.000000	0.71417	0.997000	0.53966	0.305000	0.27757	3.207000	0.51106	2.412000	0.81896	0.561000	0.74099	GAC		0.657	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2		NM_016174		7	25	0	0	0	0.001984	0	7	25		
NUP188	23511	broad.mit.edu	37	9	131749135	131749135	+	Missense_Mutation	SNP	G	G	A	rs372967524		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:131749135G>A	ENST00000372577.2	+	22	2266	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	749					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCTGTGCCACGAGACAGACCT	0.507																																						uc004bws.1		NaN																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(2245-2247)GAG>AAG		nucleoporin 188kDa		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	104.0	91.0	96.0		2245	5.6	1.0	9		96	0,8600		0,0,4300	no	missense	NUP188	NM_015354.1	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	749/1750	131749135	1,13005	2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131749135G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2245G>A	9.37:g.131749135G>A	ENSP00000361658:p.Glu749Lys					NUP188_uc004bwu.2_Missense_Mutation_p.E92K	p.E749K	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			22	2267	+			749					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.2245G>A	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406795	0.96051	2.27E-4	0.0	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.65732	-0.17	5.63	5.63	0.86233	.	0.045120	0.85682	D	0.000000	T	0.69663	0.3136	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.989	D;P	0.63877	0.919;0.747	T	0.71002	-0.4718	10	0.59425	D	0.04	-30.2772	19.0418	0.93002	0.0:0.0:1.0:0.0	.	82;749	E9PET9;Q5SRE5	.;NU188_HUMAN	K	638;749	ENSP00000361658:E749K	ENSP00000349125:E638K	E	+	1	0	NUP188	130788956	1.000000	0.71417	0.987000	0.45799	0.969000	0.65631	9.182000	0.94881	2.808000	0.96608	0.655000	0.94253	GAG		0.507	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2				12	102	0	0	0	0.013537	0	12	102		
DOLPP1	57171	broad.mit.edu	37	9	131843464	131843464	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:131843464C>T	ENST00000372546.4	+	1	86	c.54C>T	c.(52-54)ctC>ctT	p.L18L	DOLPP1_ENST00000406974.3_Silent_p.L18L|DOLPP1_ENST00000540102.1_5'UTR	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	18					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						CGGTGACCCTCACCCACGTCG	0.682																																						uc004bxc.2		NaN																	0				skin(1)	1						c.(52-54)CTC>CTT		dolichyl pyrophosphate phosphatase 1 isoform a							55.0	58.0	57.0					9																	131843464		2203	4299	6502	SO:0001819	synonymous_variant	57171				dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	g.chr9:131843464C>T	BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"""linked to Surfeit genes in Fugu rubripes 2"""	614516	"""dolichyl pyrophosphate phosphatase 1"""			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.54C>T	9.37:g.131843464C>T						DOLPP1_uc004bxd.2_Silent_p.L18L|DOLPP1_uc004bxe.2_RNA	p.L18L	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN			1	82	+			18					A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Silent	SNP	ENST00000372546.4	37	c.54C>T	CCDS6918.1																																																																																				0.682	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4		NM_020438		8	38	0	0	0	0.010729	0	8	38		
EXOSC2	23404	broad.mit.edu	37	9	133569207	133569207	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:133569207C>T	ENST00000372358.5	+	1	100	c.29C>T	c.(28-30)gCt>gTt	p.A10V	EXOSC2_ENST00000372352.3_Missense_Mutation_p.A10V|EXOSC2_ENST00000372351.3_Missense_Mutation_p.A10V|EXOSC2_ENST00000546165.1_Missense_Mutation_p.A10V			Q13868	EXOS2_HUMAN	exosome component 2	10					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		CTTCCAGTGGCTCGCAAGCCT	0.587																																					Pancreas(134;1683 1824 10118 27928 31640)	uc004bzu.2		NaN																	0				ovary(1)	1						c.(28-30)GCT>GTT		exosome component 2							34.0	34.0	34.0					9																	133569207		2200	4298	6498	SO:0001583	missense	23404				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding	g.chr9:133569207C>T	AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"""homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"""	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.29C>T	9.37:g.133569207C>T	ENSP00000361433:p.Ala10Val					EXOSC2_uc011mbz.1_Missense_Mutation_p.A10V|EXOSC2_uc011mca.1_RNA	p.A10V	NM_014285	NP_055100	Q13868	EXOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000324)	1	50	+		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)	10					A3KFL3|B4DKK6|Q9NUY4	Missense_Mutation	SNP	ENST00000372358.5	37	c.29C>T	CCDS6935.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973397	0.34848	.	.	ENSG00000130713	ENST00000372358;ENST00000546165;ENST00000372352;ENST00000372351;ENST00000372350;ENST00000495699	.	.	.	6.06	5.16	0.70880	.	0.177673	0.48767	D	0.000168	T	0.40067	0.1102	L	0.34521	1.04	0.31824	N	0.625612	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.44034	-0.9354	9	0.30078	T	0.28	-8.3583	10.5743	0.45219	0.0:0.8398:0.0:0.1602	.	10;10	B4DKK6;Q13868	.;EXOS2_HUMAN	V	10	.	ENSP00000361425:A10V	A	+	2	0	EXOSC2	132559028	0.977000	0.34250	0.930000	0.37139	0.346000	0.29079	1.463000	0.35277	1.576000	0.49790	0.655000	0.94253	GCT		0.587	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054673.1		NM_014285		5	12	0	0	0	0.001984	0	5	12		
FIBCD1	84929	broad.mit.edu	37	9	133799256	133799256	+	Nonsense_Mutation	SNP	G	G	A	rs371088741	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:133799256G>A	ENST00000372338.4	-	4	966	c.724C>T	c.(724-726)Cga>Tga	p.R242*	FIBCD1_ENST00000448616.1_Nonsense_Mutation_p.R242*|FIBCD1_ENST00000372337.2_Nonsense_Mutation_p.R84*|FIBCD1_ENST00000253018.4_Nonsense_Mutation_p.R84*	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	242	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		AGACAGTCTCGGGGCCGGGAG	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16340	0.0		0.0	False		,,,				2504	0.0					uc004bzz.2		NaN																	0					0						c.(724-726)CGA>TGA		fibrinogen C domain containing 1		G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	57.0	59.0		724,724	3.4	0.1	9		59	3,8593	3.0+/-9.4	0,3,4295	no	stop-gained,stop-gained	FIBCD1	NM_001145106.1,NM_032843.4	,	0,4,6497	AA,AG,GG		0.0349,0.0227,0.0308	,	242/462,242/462	133799256	4,12998	2203	4298	6501	SO:0001587	stop_gained	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133799256G>A	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.724C>T	9.37:g.133799256G>A	ENSP00000361413:p.Arg242*					FIBCD1_uc011mcc.1_Nonsense_Mutation_p.R242*	p.R242*	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	4	969	-	all_hematologic(7;0.0028)		242			Fibrinogen C-terminal.|Extracellular (Potential).		A3KFK0|Q6UXK6|Q96SJ7	Nonsense_Mutation	SNP	ENST00000372338.4	37	c.724C>T	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	G	37	6.233913	0.97399	2.27E-4	3.49E-4	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337;ENST00000253018;ENST00000451466	.	.	.	5.54	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9787	0.71296	0.0:0.0:0.7295:0.2705	.	.	.	.	X	242;242;84;84;242	.	ENSP00000253018:R84X	R	-	1	2	FIBCD1	132789077	0.987000	0.35691	0.149000	0.22428	0.541000	0.35023	1.916000	0.39986	1.278000	0.44430	0.462000	0.41574	CGA		0.632	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2		NM_032843		13	33	0	0	0	0.004007	0	13	33		
PRRC2B	84726	broad.mit.edu	37	9	134340375	134340375	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:134340375G>A	ENST00000357304.4	+	11	1685	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	PRRC2B_ENST00000458550.1_Missense_Mutation_p.E544K|PRRC2B_ENST00000405995.1_Missense_Mutation_p.E544K|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	544							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AAAGGCAGGTGAGGCCCGGAA	0.612																																						uc004can.3		NaN																	0					0						c.(1630-1632)GAG>AAG		HLA-B associated transcript 2-like							43.0	52.0	49.0					9																	134340375		2073	4198	6271	SO:0001583	missense	84726						protein binding	g.chr9:134340375G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1630G>A	9.37:g.134340375G>A	ENSP00000349856:p.Glu544Lys					BAT2L1_uc010mzj.1_Missense_Mutation_p.E127K	p.E544K	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			11	1685	+			544			Potential.		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.1630G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819416	0.50633	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000422467	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.48	4.58	0.56647	.	0.000000	0.42053	U	0.000779	T	0.14141	0.0342	L	0.57536	1.79	0.80722	D	1	P	0.43431	0.807	B	0.39217	0.294	T	0.02320	-1.1177	10	0.48119	T	0.1	-5.3566	8.5695	0.33561	0.0774:0.0:0.7719:0.1508	.	544	Q5JSZ5	PRC2B_HUMAN	K	544;544;544;84	ENSP00000384606:E544K;ENSP00000349856:E544K;ENSP00000398853:E544K;ENSP00000391063:E84K	ENSP00000349856:E544K	E	+	1	0	PRRC2B	133330196	0.999000	0.42202	0.972000	0.41901	0.087000	0.18053	3.966000	0.56795	1.314000	0.45095	-0.291000	0.09656	GAG		0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					5	30	0	0	0	0.000602	0	5	30		
GTF3C5	9328	broad.mit.edu	37	9	135906463	135906463	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:135906463G>A	ENST00000372097.5	+	1	388	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	GTF3C5_ENST00000372099.6_Missense_Mutation_p.R22Q|GTF3C5_ENST00000342018.8_Missense_Mutation_p.R22Q|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R22Q|GTF3C5_ENST00000372095.5_5'UTR|GTF3C5_ENST00000485692.1_3'UTR	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	22					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R22Q(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGGCGGGAGCGACGCATGGTG	0.721																																						uc004cci.3		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(64-66)CGA>CAA		general transcription factor IIIC, polypeptide 5							38.0	35.0	36.0					9																	135906463		2202	4298	6500	SO:0001583	missense	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135906463G>A	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.65G>A	9.37:g.135906463G>A	ENSP00000361169:p.Arg22Gln					GTF3C5_uc010mzz.2_5'UTR|GTF3C5_uc004ccj.3_Missense_Mutation_p.R22Q	p.R22Q	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	1	402	+			22					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	c.65G>A	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690563	0.48097	.	.	ENSG00000148308	ENST00000372097;ENST00000372099;ENST00000372108;ENST00000342018	T;T;T;T	0.52526	0.67;0.77;0.66;0.69	5.27	2.46	0.29980	.	0.814868	0.11070	N	0.602973	T	0.30916	0.0780	L	0.27053	0.805	0.21740	N	0.999561	B;B	0.23591	0.088;0.024	B;B	0.17433	0.018;0.003	T	0.21348	-1.0248	10	0.41790	T	0.15	-3.6188	4.7281	0.12950	0.3298:0.1492:0.521:0.0	.	22;22	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	Q	22	ENSP00000361169:R22Q;ENSP00000361171:R22Q;ENSP00000361180:R22Q;ENSP00000339530:R22Q	ENSP00000339530:R22Q	R	+	2	0	GTF3C5	134896284	0.059000	0.20769	0.080000	0.20451	0.753000	0.42808	1.288000	0.33296	0.241000	0.21283	0.561000	0.74099	CGA		0.721	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1		NM_001122823		5	15	0	0	0	0.000602	0	5	15		
SURF2	6835	broad.mit.edu	37	9	136226921	136226921	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:136226921C>T	ENST00000371964.4	+	4	474	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	145						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		TGACGGGCCTCGCCCGCGGGA	0.627																																						uc004cdi.2		NaN																	0					0						c.(433-435)CGC>TGC		surfeit 2							71.0	67.0	68.0					9																	136226921		2203	4300	6503	SO:0001583	missense	6835						protein binding	g.chr9:136226921C>T		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.433C>T	9.37:g.136226921C>T	ENSP00000361032:p.Arg145Cys						p.R145C	NM_017503	NP_059973	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	4	481	+			145					Q6IBP9|Q96CD1	Missense_Mutation	SNP	ENST00000371964.4	37	c.433C>T	CCDS6967.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538857	0.45176	.	.	ENSG00000148291	ENST00000371964	T	0.32023	1.47	5.28	-0.581	0.11713	.	1.180580	0.05943	N	0.637350	T	0.29355	0.0731	L	0.46157	1.445	0.09310	N	1	B	0.24675	0.109	B	0.12837	0.008	T	0.34527	-0.9825	10	0.59425	D	0.04	-7.4336	12.1792	0.54202	0.1592:0.6467:0.1941:0.0	.	145	Q15527	SURF2_HUMAN	C	145	ENSP00000361032:R145C	ENSP00000361032:R145C	R	+	1	0	SURF2	135216742	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.227000	0.09126	-0.753000	0.04721	-2.048000	0.00412	CGC		0.627	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1		NM_017503		19	11	0	0	0	0.008871	0	19	11		
DBH	1621	broad.mit.edu	37	9	136507542	136507542	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:136507542A>G	ENST00000393056.2	+	3	712	c.700A>G	c.(700-702)Att>Gtt	p.I234V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	234					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CTGGTGCTACATTAAGGAGCT	0.607																																						uc004cel.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(700-702)ATT>GTT		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)						55.0	52.0	53.0					9																	136507542		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136507542A>G	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.700A>G	9.37:g.136507542A>G	ENSP00000376776:p.Ile234Val						p.I234V	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	3	709	+			234			Intragranular (Potential).		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.700A>G	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.955203	0.00470	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.30981	1.51;1.51	4.7	-4.21	0.03812	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.432209	0.28082	N	0.016664	T	0.09774	0.0240	N	0.11560	0.145	0.46823	D	0.999219	B	0.02656	0.0	B	0.13407	0.009	T	0.42137	-0.9469	10	0.02654	T	1	-2.7176	6.8276	0.23893	0.5399:0.1188:0.3413:0.0	.	234	P09172	DOPO_HUMAN	V	234;171;171	ENSP00000376776:I234V;ENSP00000263611:I171V	ENSP00000263611:I171V	I	+	1	0	DBH	135497363	0.998000	0.40836	0.011000	0.14972	0.008000	0.06430	0.815000	0.27253	-1.067000	0.03160	-0.411000	0.06167	ATT		0.607	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2		NM_000787		12	10	0	0	0	0.010729	0	12	10		
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:137328351C>T	ENST00000481739.1	+	10	1332	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.S330F	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCTCTGCGCTCCATCGGGCTC	0.607																																						uc004cfb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1279-1281)TCC>TTC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						132.0	117.0	122.0					9																	137328351		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328351C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1280C>T	9.37:g.137328351C>T	ENSP00000419692:p.Ser427Phe					RXRA_uc004cfc.1_Missense_Mutation_p.S330F	p.S427F	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	10	1442	+			427			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.1280C>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825420	0.90955	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96940	-4.18;-4.18	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99744	1.1016	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	427	P19793	RXRA_HUMAN	F	427;330	ENSP00000419692:S427F;ENSP00000442123:S330F	ENSP00000419692:S427F	S	+	2	0	RXRA	136468172	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.532000	0.81985	2.193000	0.70182	0.591000	0.81541	TCC		0.607	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		50	44	0	0	0	0.01441	0	50	44		
SOHLH1	402381	broad.mit.edu	37	9	138590901	138590901	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:138590901G>A	ENST00000298466.5	-	2	197	c.137C>T	c.(136-138)aCg>aTg	p.T46M	SOHLH1_ENST00000425225.1_Missense_Mutation_p.T46M	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	46					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CTCGGCCACCGTAGGGGCCTT	0.711																																						uc004cgl.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(136-138)ACG>ATG		spermatogenesis and oogenesis specific basic							21.0	22.0	22.0					9																	138590901		2199	4290	6489	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138590901G>A	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.137C>T	9.37:g.138590901G>A	ENSP00000298466:p.Thr46Met					SOHLH1_uc010nbe.2_Missense_Mutation_p.T46M	p.T46M	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	2	198	-		Myeloproliferative disorder(178;0.0511)	46					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.137C>T	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	G	8.245	0.807655	0.16467	.	.	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.33865	1.39;1.41	2.52	-2.67	0.06059	.	2.541670	0.02203	N	0.062411	T	0.16981	0.0408	N	0.14661	0.345	0.09310	N	1	P;P	0.39748	0.686;0.559	B;B	0.30646	0.118;0.055	T	0.11891	-1.0569	10	0.48119	T	0.1	-1.6125	2.7606	0.05306	0.4765:0.0:0.3086:0.2149	.	46;46	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	M	46	ENSP00000298466:T46M;ENSP00000404438:T46M	ENSP00000298466:T46M	T	-	2	0	SOHLH1	137730722	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.554000	0.00926	-0.385000	0.07833	-1.056000	0.02311	ACG		0.711	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2		NM_001012415		8	12	0	0	0	0.004482	0	8	12		
KCNT1	57582	broad.mit.edu	37	9	138662868	138662868	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:138662868G>A	ENST00000263604.3	+	18	1878	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K	KCNT1_ENST00000490355.2_Silent_p.K626K|KCNT1_ENST00000487664.1_Silent_p.K600K|KCNT1_ENST00000371757.2_Silent_p.K645K|KCNT1_ENST00000298480.5_Silent_p.K645K|KCNT1_ENST00000491806.2_Silent_p.K612K|KCNT1_ENST00000488444.2_Silent_p.K626K|KCNT1_ENST00000486577.2_Silent_p.K606K			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	626					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGCGGAAGAAGAGGGCCTTCT	0.652																																						uc011mdq.1		NaN																	0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(1933-1935)AAG>AAA		potassium channel, subfamily T, member 1							52.0	47.0	48.0					9																	138662868		2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138662868G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1878G>A	9.37:g.138662868G>A						KCNT1_uc011mdr.1_Silent_p.K472K|KCNT1_uc010nbf.2_Silent_p.K600K|KCNT1_uc004cgo.1_Silent_p.K394K	p.K645K	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	18	2009	+		Myeloproliferative disorder(178;0.0821)	645					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.1935G>A																																																																																					0.652	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_020822		13	5	0	0	0	0.013537	0	13	5		
CAMSAP1	157922	broad.mit.edu	37	9	138713633	138713633	+	Silent	SNP	G	G	A	rs138126670		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:138713633G>A	ENST00000389532.4	-	11	2938	c.2874C>T	c.(2872-2874)ctC>ctT	p.L958L	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.L969L|CAMSAP1_ENST00000312405.6_Silent_p.L680L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	958					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTCCTTCACGAGAAAGTCTT	0.562																																						uc004cgr.3		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2872-2874)CTC>CTT		calmodulin regulated spectrin-associated protein		G		0,4406		0,0,2203	84.0	87.0	86.0		2874	-8.6	0.0	9	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CAMSAP1	NM_015447.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		958/1603	138713633	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138713633G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2874C>T	9.37:g.138713633G>A						CAMSAP1_uc004cgq.3_Silent_p.L848L|CAMSAP1_uc010nbg.2_Silent_p.L680L	p.L958L	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	2874	-			958					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.2874C>T	CCDS35176.2																																																																																				0.562	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2		XM_351857		115	41	0	0	0	0.01441	0	115	41		
MAMDC4	158056	broad.mit.edu	37	9	139748504	139748504	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:139748504G>A	ENST00000317446.2	+	6	696	c.646G>A	c.(646-648)Gag>Aag	p.E216K	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.E216K	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGATGACCTAGAGTTCTGGGA	0.627																																						uc004cjs.2		NaN																	0				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(646-648)GAG>AAG		apical early endosomal glycoprotein precursor							91.0	90.0	90.0					9																	139748504		2202	4300	6502	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139748504G>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.646G>A	9.37:g.139748504G>A	ENSP00000319388:p.Glu216Lys					MAMDC4_uc011mej.1_5'UTR	p.E216K	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	6	696	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	216			Extracellular (Potential).|MAM 1.			Missense_Mutation	SNP	ENST00000317446.2	37	c.646G>A	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	2.943|2.943	-0.218478|-0.218478	0.06101|0.06101	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.01963|.	4.53;4.53|.	4.1|4.1	3.2|3.2	0.36748|0.36748	.|.	0.859080|.	0.09835|.	N|.	0.749695|.	T|T	0.32675|0.32675	0.0837|0.0837	L|L	0.31476|0.31476	0.935|0.935	0.22888|0.22888	N|N	0.998604|0.998604	B|.	0.10296|.	0.003|.	B|.	0.11329|.	0.006|.	T|T	0.18777|0.18777	-1.0326|-1.0326	10|5	0.23891|.	T|.	0.37|.	-6.2589|-6.2589	8.1619|8.1619	0.31204|0.31204	0.2003:0.0:0.7997:0.0|0.2003:0.0:0.7997:0.0	.|.	216|.	Q6UXC1-2|.	.|.	K|K	216|197	ENSP00000319388:E216K;ENSP00000411339:E216K|.	ENSP00000319388:E216K|.	E|R	+|+	1|2	0|0	MAMDC4|MAMDC4	138868325|138868325	1.000000|1.000000	0.71417|0.71417	0.504000|0.504000	0.27639|0.27639	0.114000|0.114000	0.19823|0.19823	1.747000|1.747000	0.38298|0.38298	0.940000|0.940000	0.37473|0.37473	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.627	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3		NM_206920		16	71	0	0	0	0.007413	0	16	71		
ABCA2	20	broad.mit.edu	37	9	139907259	139907259	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:139907259C>T	ENST00000371605.3	-	30	5130	c.4983G>A	c.(4981-4983)caG>caA	p.Q1661Q	ABCA2_ENST00000341511.6_Silent_p.Q1662Q|ABCA2_ENST00000265662.5_Silent_p.Q1662Q			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1661					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCACCCGCATCTGGGGCGGGT	0.687																																						uc011mem.1		NaN																	0					0						c.(4981-4983)CAG>CAA		ATP-binding cassette, sub-family A, member 2							13.0	18.0	16.0					9																	139907259		1961	4107	6068	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139907259C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4983G>A	9.37:g.139907259C>T						ABCA2_uc011mel.1_Silent_p.Q1662Q|ABCA2_uc004ckl.1_Silent_p.Q1592Q|ABCA2_uc004ckm.1_Silent_p.Q1692Q|ABCA2_uc004ckn.1_RNA	p.Q1661Q	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	30	5131	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1661					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.4983G>A		.	.	.	.	.	.	.	.	.	.	C	9.106	1.005374	0.19199	.	.	ENSG00000107331	ENST00000477420	.	.	.	4.15	3.25	0.37280	.	.	.	.	.	T	0.59115	0.2170	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54853	-0.8231	4	.	.	.	.	9.5306	0.39191	0.0:0.8256:0.0:0.1744	.	.	.	.	N	74	.	.	D	-	1	0	ABCA2	139027080	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.609000	0.24238	0.953000	0.37825	0.491000	0.48974	GAT		0.687	ABCA2-202	KNOWN	basic	protein_coding	protein_coding			NM_001606		8	8	0	0	0	0.010729	0	8	8		
SSNA1	8636	broad.mit.edu	37	9	140083657	140083657	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:140083657G>A	ENST00000322310.5	+	2	272	c.192G>A	c.(190-192)aaG>aaA	p.K64K	SSNA1_ENST00000459860.1_3'UTR|ANAPC2_ENST00000323927.2_5'Flank	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	64					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport (GO:0042073)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		TGGCACGCAAGATTGCCTCTC	0.642																																						uc004cls.2		NaN																	0				breast(1)	1						c.(190-192)AAG>AAA		nuclear autoantigen of 14 kDa							54.0	43.0	47.0					9																	140083657		2203	4300	6503	SO:0001819	synonymous_variant	8636				G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus		g.chr9:140083657G>A	Z96932	CCDS7034.1	9q34.3	2008-02-05	2007-10-04		ENSG00000176101	ENSG00000176101			11321	protein-coding gene	gene with protein product		610882	"""Sjogren's syndrome nuclear autoantigen 1"""			9430706	Standard	NM_003731		Approved	NA14, N14	uc004cls.2	O43805	OTTHUMG00000020982	ENST00000322310.5:c.192G>A	9.37:g.140083657G>A						ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc004clr.1_5'Flank|ANAPC2_uc011mer.1_5'Flank	p.K64K	NM_003731	NP_003722	O43805	SSNA1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)	2	317	+	all_cancers(76;0.0926)		64			Potential.		Q5VSG0|Q6FG70|Q9BVW8	Silent	SNP	ENST00000322310.5	37	c.192G>A	CCDS7034.1																																																																																				0.642	SSNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055311.1		NM_003731		4	25	0	0	0	0.000602	0	4	25		
NRARP	441478	broad.mit.edu	37	9	140196323	140196323	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:140196323C>T	ENST00000356628.2	-	1	380	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	20					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CGCACAGCCTCCTGGAAGATG	0.706																																						uc004cmo.2		NaN																	0					0						c.(58-60)GAG>AAG		NOTCH-regulated ankyrin repeat protein							47.0	40.0	42.0					9																	140196323		2198	4297	6495	SO:0001583	missense	441478				negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway			g.chr9:140196323C>T		CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"""Ankyrin repeat domain containing"""	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.58G>A	9.37:g.140196323C>T	ENSP00000349041:p.Glu20Lys					C9orf167_uc011mew.1_Intron	p.E20K	NM_001004354	NP_001004354	Q7Z6K4	NRARP_HUMAN	STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)	1	381	-	all_cancers(76;0.0926)		20					B8A4K5	Missense_Mutation	SNP	ENST00000356628.2	37	c.58G>A	CCDS35188.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352116	0.82132	.	.	ENSG00000198435	ENST00000356628	T	0.64618	-0.11	3.3	3.3	0.37823	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	T	0.46795	0.1411	L	0.35542	1.07	0.48395	D	0.999647	B	0.18013	0.025	B	0.13407	0.009	T	0.35450	-0.9788	10	0.14252	T	0.57	.	12.1536	0.54064	0.0:1.0:0.0:0.0	.	20	Q7Z6K4	NRARP_HUMAN	K	20	ENSP00000349041:E20K	ENSP00000349041:E20K	E	-	1	0	NRARP	139316144	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.538000	0.60650	1.699000	0.51192	0.435000	0.28638	GAG		0.706	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343196.1		NM_001004354		6	40	0	0	0	0.001168	0	6	40		
MRPL41	64975	broad.mit.edu	37	9	140446923	140446923	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:140446923C>T	ENST00000371443.5	+	2	1178	c.390C>T	c.(388-390)ctC>ctT	p.L130L	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	130					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		TCTTCCAGCTCTACCCCAGGA	0.557																																						uc004cnh.3		NaN																	0					0						c.(388-390)CTC>CTT		mitochondrial ribosomal protein L41							24.0	23.0	23.0					9																	140446923		2198	4283	6481	SO:0001819	synonymous_variant	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446923C>T	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.390C>T	9.37:g.140446923C>T						PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank	p.L130L	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	520	+	all_cancers(76;0.106)		130					Q96Q49	Silent	SNP	ENST00000371443.5	37	c.390C>T	CCDS7046.1																																																																																				0.557	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1		NM_032477		23	16	0	0	0	0.014323	0	23	16		
IL3RA	3563	broad.mit.edu	37	X	1484114	1484114	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:1484114C>G	ENST00000331035.4	+	9	1192	c.843C>G	c.(841-843)ttC>ttG	p.F281L	IL3RA_ENST00000381469.2_Missense_Mutation_p.F203L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	281					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTATGAATTCTTGAGCGCCT	0.607																																						uc004cps.2		NaN																	0				skin(2)|lung(1)	3						c.(841-843)TTC>TTG		interleukin 3 receptor, alpha precursor	Sargramostim(DB00020)						65.0	76.0	72.0					X																	1484114		2200	4289	6489	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1484114C>G	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.843C>G	X.37:g.1484114C>G	ENSP00000327890:p.Phe281Leu					IL3RA_uc011mhd.1_Missense_Mutation_p.F203L	p.F281L	NM_002183	NP_002174	P26951	IL3RA_HUMAN			9	1192	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	281			Extracellular (Potential).		A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.843C>G	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.184	-1.059571	0.01950	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	D;D	0.84944	-1.92;-1.92	0.355	0.355	0.16069	Fibronectin, type III (1);Immunoglobulin-like fold (1);	7.870880	0.01314	N	0.010730	T	0.71779	0.3380	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.005;0.008	B;B	0.17979	0.02;0.009	T	0.60214	-0.7307	9	0.08837	T	0.75	-0.918	.	.	.	.	202;281	P26951-2;P26951	.;IL3RA_HUMAN	L	281;203	ENSP00000327890:F281L;ENSP00000370878:F203L	ENSP00000327890:F281L	F	+	3	2	IL3RA	1444114	0.000000	0.05858	0.021000	0.16686	0.454000	0.32378	-0.626000	0.05527	0.436000	0.26393	0.081000	0.15443	TTC		0.607	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3				18	30	0	0	0	0.008871	0	18	30		
WWC3	55841	broad.mit.edu	37	X	10104698	10104698	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:10104698C>T	ENST00000380861.4	+	20	3180	c.2789C>T	c.(2788-2790)tCa>tTa	p.S930L	WWC3_ENST00000454666.1_Missense_Mutation_p.S930L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	930					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCGACAGTTCAACGCTGCCC	0.443																																						uc004csx.3		NaN																	0				ovary(4)	4						c.(2788-2790)TCA>TTA		WWC family member 3							125.0	97.0	107.0					X																	10104698		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10104698C>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2789C>T	X.37:g.10104698C>T	ENSP00000370242:p.Ser930Leu					WWC3_uc010nds.2_Missense_Mutation_p.S594L|WWC3_uc010ndt.2_RNA	p.S930L	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			20	2987	+			930					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.2789C>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381115	0.95945	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.62498	0.02;0.02	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.80014	0.4546	M	0.86864	2.845	0.80722	D	1	P	0.52170	0.951	P	0.57057	0.812	T	0.82313	-0.0519	9	.	.	.	-13.58	18.985	0.92766	0.0:1.0:0.0:0.0	.	930	Q9ULE0	WWC3_HUMAN	L	930;930;425	ENSP00000370242:S930L;ENSP00000399584:S930L	.	S	+	2	0	WWC3	10064698	1.000000	0.71417	0.937000	0.37676	0.922000	0.55478	7.629000	0.83207	2.432000	0.82394	0.600000	0.82982	TCA		0.443	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1		NM_015691		13	32	0	0	0	0.001855	0	13	32		
HCCS	3052	broad.mit.edu	37	X	11130276	11130276	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:11130276G>A	ENST00000321143.4	+	2	298	c.96G>A	c.(94-96)atG>atA	p.M32I	HCCS_ENST00000380763.3_Missense_Mutation_p.M32I|HCCS_ENST00000380762.4_Missense_Mutation_p.M32I|RP11-120D5.1_ENST00000608176.1_lincRNA	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	32					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						AAGGGAAAATGAAAGGTAATC	0.522																																					Ovarian(86;1338 1347 1462 10340 37882)	uc004cuk.2		NaN																	0					0						c.(94-96)ATG>ATA		holocytochrome c synthase							89.0	71.0	77.0					X																	11130276		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11130276G>A		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.96G>A	X.37:g.11130276G>A	ENSP00000326579:p.Met32Ile					uc004cui.1_5'Flank|HCCS_uc004cuj.2_Missense_Mutation_p.M32I|HCCS_uc004cul.1_Missense_Mutation_p.M32I	p.M32I	NM_005333	NP_005324	P53701	CCHL_HUMAN			2	362	+			32					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.96G>A	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624793	0.28889	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.82167	-1.58;-1.58;-1.58	4.85	3.04	0.35103	.	0.960878	0.08668	N	0.911412	T	0.76205	0.3955	L	0.41236	1.265	0.20489	N	0.999898	B	0.14438	0.01	B	0.21917	0.037	T	0.62932	-0.6749	10	0.38643	T	0.18	-0.0895	7.2876	0.26348	0.2254:0.0:0.7746:0.0	.	32	P53701	CCHL_HUMAN	I	32	ENSP00000326579:M32I;ENSP00000370140:M32I;ENSP00000370139:M32I	ENSP00000326579:M32I	M	+	3	0	HCCS	11040197	0.051000	0.20477	0.686000	0.30086	0.809000	0.45718	0.693000	0.25497	0.986000	0.38683	0.600000	0.82982	ATG		0.522	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1				13	22	0	0	0	0.001855	0	13	22		
TLR7	51284	broad.mit.edu	37	X	12906158	12906158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:12906158C>A	ENST00000380659.3	+	3	2670	c.2531C>A	c.(2530-2532)tCa>tAa	p.S844*		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	844					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|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-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ATTCTGTTCTCACTTTCCATA	0.453																																						uc004cvc.2		NaN																	0				ovary(2)|lung(2)|breast(1)	5						c.(2530-2532)TCA>TAA		toll-like receptor 7 precursor	Imiquimod(DB00724)						228.0	187.0	201.0					X																	12906158		2203	4300	6503	SO:0001587	stop_gained	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906158C>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2531C>A	X.37:g.12906158C>A	ENSP00000370034:p.Ser844*						p.S844*	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	2670	+			844			Helical; (Potential).		D1CS69|Q9NR98	Nonsense_Mutation	SNP	ENST00000380659.3	37	c.2531C>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	38	6.637024	0.97726	.	.	ENSG00000196664	ENST00000380659	.	.	.	5.82	3.92	0.45320	.	0.414417	0.23847	N	0.043998	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	7.575	0.27931	0.1384:0.7194:0.0:0.1422	.	.	.	.	X	844	.	ENSP00000370034:S844X	S	+	2	0	TLR7	12816079	0.934000	0.31675	0.896000	0.35187	0.946000	0.59487	2.030000	0.41108	2.461000	0.83175	0.529000	0.55759	TCA		0.453	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1		NM_016562		144	34	1	0	6.73184e-63	0.01441	7.16434e-63	144	34		
ZRSR2	8233	broad.mit.edu	37	X	15809081	15809081	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:15809081G>A	ENST00000307771.7	+	2	90	c.66G>A	c.(64-66)ctG>ctA	p.L22L	ZRSR2_ENST00000468028.1_3'UTR|ZRSR2_ENST00000380308.3_Silent_p.L22L	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	22					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					GGGCCGCCCTGAAGAAGGAGA	0.512			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	uc004cxg.3		NaN		Rec	yes		X	Xp22.1	8233		"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L					0				breast(3)	3						c.(64-66)CTG>CTA		U2 small nuclear RNA auxiliary factor 1-like 2							74.0	68.0	70.0					X																	15809081		2203	4300	6503	SO:0001819	synonymous_variant	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15809081G>A	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.66G>A	X.37:g.15809081G>A							p.L22L	NM_005089	NP_005080	Q15696	U2AFM_HUMAN			2	111	+	Hepatocellular(33;0.183)		22					Q14D69	Silent	SNP	ENST00000307771.7	37	c.66G>A	CCDS14172.1																																																																																				0.512	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1		NM_005089		15	4	0	0	0	0.004007	0	15	4		
GPR64	10149	broad.mit.edu	37	X	19032082	19032082	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:19032082G>C	ENST00000379869.3	-	16	984	c.821C>G	c.(820-822)cCc>cGc	p.P274R	GPR64_ENST00000379873.2_Missense_Mutation_p.P274R|GPR64_ENST00000379878.3_Missense_Mutation_p.P258R|GPR64_ENST00000360279.4_Missense_Mutation_p.P252R|GPR64_ENST00000357544.3_Missense_Mutation_p.P244R|GPR64_ENST00000356606.4_Missense_Mutation_p.P260R|GPR64_ENST00000357991.3_Missense_Mutation_p.P271R|GPR64_ENST00000379876.1_Missense_Mutation_p.P250R|GPR64_ENST00000354791.3_Missense_Mutation_p.P258R|GPR64_ENST00000340581.3_Missense_Mutation_p.P244R	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	274					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGTAGCTTTGGGGACCTGGGA	0.542																																						uc004cyx.2		NaN																	0					0						c.(820-822)CCC>CGC		G protein-coupled receptor 64 isoform 1							88.0	88.0	88.0					X																	19032082		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19032082G>C	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.821C>G	X.37:g.19032082G>C	ENSP00000369198:p.Pro274Arg					GPR64_uc004cyy.2_Missense_Mutation_p.P271R|GPR64_uc004cyz.2_Missense_Mutation_p.P260R|GPR64_uc004czb.2_Missense_Mutation_p.P274R|GPR64_uc004czc.2_Missense_Mutation_p.P258R|GPR64_uc004czd.2_Missense_Mutation_p.P250R|GPR64_uc004cze.2_Missense_Mutation_p.P244R|GPR64_uc004czf.2_Missense_Mutation_p.P236R|GPR64_uc004cza.2_Missense_Mutation_p.P252R|GPR64_uc004cyw.2_Missense_Mutation_p.P258R|GPR64_uc010nfj.2_Missense_Mutation_p.P244R	p.P274R	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			16	985	-	Hepatocellular(33;0.183)		274			Extracellular (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.821C>G	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867499	0.32977	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.36878	1.33;1.46;1.46;1.48;1.46;1.49;1.46;1.49;1.5;1.23	4.85	4.85	0.62838	.	0.968568	0.08468	N	0.941473	T	0.29389	0.0732	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.33345	0.089;0.27;0.27;0.27;0.27;0.409;0.27;0.409;0.27;0.177;0.177	B;B;B;B;B;B;B;B;B;B;B	0.37198	0.032;0.187;0.243;0.187;0.187;0.187;0.243;0.243;0.243;0.091;0.091	T	0.31364	-0.9946	10	0.87932	D	0	.	12.8502	0.57852	0.0:0.0:1.0:0.0	.	244;236;244;250;258;274;252;260;271;274;258	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	R	274;258;258;250;244;274;252;271;260;244	ENSP00000369202:P274R;ENSP00000369207:P258R;ENSP00000346845:P258R;ENSP00000369205:P250R;ENSP00000350152:P244R;ENSP00000369198:P274R;ENSP00000353421:P252R;ENSP00000350680:P271R;ENSP00000349015:P260R;ENSP00000344972:P244R	ENSP00000344972:P244R	P	-	2	0	GPR64	18942003	0.205000	0.23458	0.023000	0.16930	0.032000	0.12392	4.084000	0.57650	2.333000	0.79357	0.436000	0.28706	CCC		0.542	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2				21	30	0	0	0	0.00278	0	21	30		
MAP3K15	389840	broad.mit.edu	37	X	19413274	19413274	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:19413274G>A	ENST00000338883.4	-	16	2118	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	MAP3K15_ENST00000359173.3_Missense_Mutation_p.R142C|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R539C	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ACGATATTGCGGTGCTTAAGG	0.507																																						uc004czk.1		NaN																	0				ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(544-546)CGC>TGC		mitogen-activated protein kinase kinase kinase							177.0	146.0	157.0					X																	19413274		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19413274G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2119C>T	X.37:g.19413274G>A	ENSP00000345629:p.Arg707Cys					MAP3K15_uc004czj.1_Missense_Mutation_p.R142C	p.R182C	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			17	2181	-	Hepatocellular(33;0.183)		707			Protein kinase.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.544C>T		.	.	.	.	.	.	.	.	.	.	G	15.56	2.870274	0.51588	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.26067	1.76;1.76;1.76	5.69	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	M	0.62016	1.91	0.80722	D	1	B;B	0.28933	0.206;0.228	B;B	0.27608	0.049;0.081	T	0.04413	-1.0953	10	0.72032	D	0.01	.	11.6714	0.51403	0.1468:0.0:0.8532:0.0	.	182;707	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	C	707;142;539	ENSP00000345629:R707C;ENSP00000352093:R142C;ENSP00000428356:R539C	ENSP00000345629:R707C	R	-	1	0	MAP3K15	19323195	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.720000	0.47252	0.579000	0.29504	0.597000	0.82753	CGC		0.507	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001001671		41	64	0	0	0	0.007835	0	41	64		
MAOA	4128	broad.mit.edu	37	X	43587477	43587477	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:43587477C>A	ENST00000338702.3	+	6	684	c.561C>A	c.(559-561)caC>caA	p.H187Q	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_Missense_Mutation_p.H54Q	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	187					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	CTGAGCCTCACGAAGTGTCTG	0.478																																						uc004dfy.2		NaN																	0				breast(2)|ovary(1)	3						c.(559-561)CAC>CAA		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						241.0	188.0	206.0					X																	43587477		2203	4300	6503	SO:0001583	missense	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43587477C>A		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.561C>A	X.37:g.43587477C>A	ENSP00000340684:p.His187Gln					MAOA_uc011mkw.1_Missense_Mutation_p.H54Q	p.H187Q	NM_000240	NP_000231	P21397	AOFA_HUMAN			6	742	+			187			Cytoplasmic.		B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	c.561C>A	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235644	0.22626	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	D;D	0.92048	-2.96;-2.96	5.58	-5.09	0.02920	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.88847	0.6548	L	0.53780	1.695	0.58432	D	0.999997	B	0.32365	0.367	B	0.38712	0.28	T	0.77247	-0.2658	10	0.42905	T	0.14	.	14.5217	0.67853	0.0:0.4254:0.0:0.5746	.	187	P21397	AOFA_HUMAN	Q	187;54	ENSP00000340684:H187Q;ENSP00000440846:H54Q	ENSP00000340684:H187Q	H	+	3	2	MAOA	43472421	0.056000	0.20664	0.533000	0.28001	0.132000	0.20833	-0.749000	0.04813	-1.141000	0.02873	-1.131000	0.01979	CAC		0.478	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1		NM_000240		43	101	1	0	1.22674e-20	0.00874	1.29792e-20	43	101		
CXorf36	79742	broad.mit.edu	37	X	45017019	45017019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:45017019G>A	ENST00000398000.2	-	3	687	c.613C>T	c.(613-615)Cgt>Tgt	p.R205C	CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	205						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						AGCTTGTCACGGTCGGTGAAG	0.632																																						uc004dgg.2		NaN																	0				lung(1)	1						c.(613-615)CGT>TGT		hypothetical protein LOC79742 isoform 1							48.0	44.0	45.0					X																	45017019		1567	3575	5142	SO:0001583	missense	79742					extracellular region		g.chrX:45017019G>A	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.613C>T	X.37:g.45017019G>A	ENSP00000381086:p.Arg205Cys						p.R205C	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN			3	688	-			205					A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	c.613C>T	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262605	0.59431	.	.	ENSG00000147113	ENST00000398000	T	0.33654	1.4	4.8	3.93	0.45458	.	0.273236	0.30401	N	0.009708	T	0.44435	0.1293	M	0.67953	2.075	0.80722	D	1	D	0.69078	0.997	P	0.50896	0.653	T	0.42965	-0.9420	10	0.72032	D	0.01	.	9.7357	0.40386	0.0:0.1487:0.694:0.1573	.	205	Q9H7Y0	CX036_HUMAN	C	205	ENSP00000381086:R205C	ENSP00000381086:R205C	R	-	1	0	CXorf36	44901963	0.460000	0.25776	0.119000	0.21687	0.650000	0.38633	2.819000	0.48049	0.800000	0.34041	0.429000	0.28392	CGT		0.632	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2		NM_024689		3	8	0	0	0	0.009096	0	3	8		
CDK16	5127	broad.mit.edu	37	X	47083090	47083090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:47083090G>A	ENST00000357227.4	+	2	558	c.134G>A	c.(133-135)gGa>gAa	p.G45E	CDK16_ENST00000276052.6_Missense_Mutation_p.G119E|CDK16_ENST00000457458.2_Missense_Mutation_p.G51E|CDK16_ENST00000518022.1_Missense_Mutation_p.G45E	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	45					exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						AGTGACCCTGGAGAGGCCCCC	0.622																																						uc004dho.2		NaN																	0				lung(1)	1						c.(133-135)GGA>GAA		PCTAIRE protein kinase 1 isoform 1							102.0	67.0	79.0					X																	47083090		2202	4300	6502	SO:0001583	missense	5127						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chrX:47083090G>A		CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"""Cyclin-dependent kinases"""	8749	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase"""	311550	"""PCTAIRE protein kinase 1"""	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.134G>A	X.37:g.47083090G>A	ENSP00000349762:p.Gly45Glu					CDK16_uc011mli.1_Missense_Mutation_p.G51E|CDK16_uc011mlj.1_Missense_Mutation_p.G45E|CDK16_uc011mlk.1_Missense_Mutation_p.G45E|CDK16_uc011mll.1_Missense_Mutation_p.G119E	p.G45E	NM_006201	NP_006192	Q00536	CDK16_HUMAN			2	530	+			45					A8K280|B7Z7C8|J3KN74|J3KQP7	Missense_Mutation	SNP	ENST00000357227.4	37	c.134G>A	CCDS14276.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.10|15.10	2.731659|2.731659	0.48939|0.48939	.|.	.|.	ENSG00000102225|ENSG00000102225	ENST00000457458;ENST00000522883;ENST00000357227;ENST00000519758;ENST00000520893;ENST00000540877;ENST00000517426;ENST00000518391;ENST00000518022;ENST00000276052|ENST00000523034	T;T;T;T;T;T|.	0.71341|.	-0.37;-0.36;-0.56;1.01;-0.36;-0.42|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.395446|.	0.23442|.	N|.	0.048130|.	T|.	0.30417|.	0.0764|.	N|N	0.02011|0.02011	-0.69|-0.69	0.44042|0.44042	D|D	0.996774|0.996774	P;P;B;B|.	0.41313|.	0.565;0.745;0.089;0.001|.	B;B;B;B|.	0.35971|.	0.156;0.215;0.01;0.003|.	T|.	0.30592|.	-0.9973|.	10|.	0.41790|.	T|.	0.15|.	-5.3141|-5.3141	15.2036|15.2036	0.73159|0.73159	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	119;45;143;45|.	B7Z7C8;B7Z461;B7Z8T0;Q00536|.	.;.;.;CDK16_HUMAN|.	E|X	51;45;45;45;45;143;45;45;45;119|18	ENSP00000405798:G51E;ENSP00000349762:G45E;ENSP00000429985:G45E;ENSP00000429044:G45E;ENSP00000429751:G45E;ENSP00000276052:G119E|.	ENSP00000276052:G119E|.	G|W	+|+	2|3	0|0	CDK16|CDK16	46968034|46968034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	2.483000|2.483000	0.45233|0.45233	2.178000|2.178000	0.69098|0.69098	0.431000|0.431000	0.28591|0.28591	GGA|TGG		0.622	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2		NM_006201		8	2	0	0	0	0.004482	0	8	2		
CDK16	5127	broad.mit.edu	37	X	47083092	47083092	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:47083092G>A	ENST00000357227.4	+	2	560	c.136G>A	c.(136-138)Gag>Aag	p.E46K	CDK16_ENST00000276052.6_Missense_Mutation_p.E120K|CDK16_ENST00000457458.2_Missense_Mutation_p.E52K|CDK16_ENST00000518022.1_Missense_Mutation_p.E46K	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	46					exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TGACCCTGGAGAGGCCCCCAC	0.627																																						uc004dho.2		NaN																	0				lung(1)	1						c.(136-138)GAG>AAG		PCTAIRE protein kinase 1 isoform 1							102.0	68.0	79.0					X																	47083092		2202	4300	6502	SO:0001583	missense	5127						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chrX:47083092G>A		CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"""Cyclin-dependent kinases"""	8749	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase"""	311550	"""PCTAIRE protein kinase 1"""	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.136G>A	X.37:g.47083092G>A	ENSP00000349762:p.Glu46Lys					CDK16_uc011mli.1_Missense_Mutation_p.E52K|CDK16_uc011mlj.1_Missense_Mutation_p.E46K|CDK16_uc011mlk.1_Missense_Mutation_p.E46K|CDK16_uc011mll.1_Missense_Mutation_p.E120K	p.E46K	NM_006201	NP_006192	Q00536	CDK16_HUMAN			2	532	+			46					A8K280|B7Z7C8|J3KN74|J3KQP7	Missense_Mutation	SNP	ENST00000357227.4	37	c.136G>A	CCDS14276.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.20|10.20	1.283737|1.283737	0.23392|0.23392	.|.	.|.	ENSG00000102225|ENSG00000102225	ENST00000457458;ENST00000522883;ENST00000357227;ENST00000519758;ENST00000520893;ENST00000540877;ENST00000517426;ENST00000518391;ENST00000518022;ENST00000276052|ENST00000523034	T;T;T;T;T;T|.	0.72725|.	-0.48;-0.48;-0.68;0.95;-0.48;-0.48|.	5.19|5.19	3.32|3.32	0.38043|0.38043	.|.	0.534207|.	0.18507|.	N|.	0.139170|.	T|T	0.18718|0.18718	0.0449|0.0449	N|N	0.02539|0.02539	-0.55|-0.55	0.32863|0.32863	D|D	0.508144|0.508144	B;B;B;B|.	0.31968|.	0.001;0.349;0.005;0.005|.	B;B;B;B|.	0.32211|.	0.002;0.142;0.003;0.007|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|5	0.15066|.	T|.	0.55|.	-14.7456|-14.7456	10.0073|10.0073	0.41964|0.41964	0.0:0.1442:0.7067:0.1491|0.0:0.1442:0.7067:0.1491	.|.	120;46;144;46|.	B7Z7C8;B7Z461;B7Z8T0;Q00536|.	.;.;.;CDK16_HUMAN|.	K|K	52;46;46;46;46;144;46;46;46;120|19	ENSP00000405798:E52K;ENSP00000349762:E46K;ENSP00000429985:E46K;ENSP00000429044:E46K;ENSP00000429751:E46K;ENSP00000276052:E120K|.	ENSP00000276052:E120K|.	E|R	+|+	1|2	0|0	CDK16|CDK16	46968036|46968036	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	2.061000|2.061000	0.41403|0.41403	2.178000|2.178000	0.69098|0.69098	0.431000|0.431000	0.28591|0.28591	GAG|AGA		0.627	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2		NM_006201		8	2	0	0	0	0.004482	0	8	2		
CDK16	5127	broad.mit.edu	37	X	47083915	47083915	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:47083915G>A	ENST00000357227.4	+	3	758	c.334G>A	c.(334-336)Gag>Aag	p.E112K	CDK16_ENST00000276052.6_Missense_Mutation_p.E186K|CDK16_ENST00000457458.2_Missense_Mutation_p.E118K|CDK16_ENST00000518022.1_Missense_Mutation_p.E112K	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	112					exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GATCTCCACTGAGGTGCTTGA	0.577																																						uc004dho.2		NaN																	0				lung(1)	1						c.(334-336)GAG>AAG		PCTAIRE protein kinase 1 isoform 1							81.0	54.0	63.0					X																	47083915		2203	4300	6503	SO:0001583	missense	5127						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chrX:47083915G>A		CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"""Cyclin-dependent kinases"""	8749	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase"""	311550	"""PCTAIRE protein kinase 1"""	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.334G>A	X.37:g.47083915G>A	ENSP00000349762:p.Glu112Lys					CDK16_uc011mli.1_Missense_Mutation_p.E118K|CDK16_uc011mlj.1_Missense_Mutation_p.E112K|CDK16_uc011mlk.1_Missense_Mutation_p.E112K|CDK16_uc011mll.1_Missense_Mutation_p.E186K	p.E112K	NM_006201	NP_006192	Q00536	CDK16_HUMAN			3	730	+			112					A8K280|B7Z7C8|J3KN74|J3KQP7	Missense_Mutation	SNP	ENST00000357227.4	37	c.334G>A	CCDS14276.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518920	0.85495	.	.	ENSG00000102225	ENST00000457458;ENST00000357227;ENST00000519758;ENST00000520893;ENST00000540877;ENST00000540311;ENST00000517426;ENST00000518391;ENST00000518022;ENST00000276052	T;T;T;T;T;T	0.73152	-0.52;-0.51;-0.72;0.69;-0.51;-0.54	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.68165	0.2971	L	0.46819	1.47	0.80722	D	1	B;B;B;B	0.28470	0.044;0.213;0.043;0.014	B;B;B;B	0.30029	0.039;0.11;0.035;0.027	T	0.66760	-0.5842	10	0.59425	D	0.04	-18.0795	17.9536	0.89061	0.0:0.0:1.0:0.0	.	186;112;210;112	B7Z7C8;B7Z461;B7Z8T0;Q00536	.;.;.;CDK16_HUMAN	K	118;112;112;112;210;64;112;112;112;186	ENSP00000405798:E118K;ENSP00000349762:E112K;ENSP00000429985:E112K;ENSP00000429044:E112K;ENSP00000429751:E112K;ENSP00000276052:E186K	ENSP00000276052:E186K	E	+	1	0	CDK16	46968859	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.458000	0.97634	2.516000	0.84829	0.600000	0.82982	GAG		0.577	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2		NM_006201		27	3	0	0	0	0.005443	0	27	3		
TFE3	7030	broad.mit.edu	37	X	48891000	48891000	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:48891000G>C	ENST00000315869.7	-	8	1375	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	372	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						ACTTAGGGATGAGAGTGCCCA	0.567			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	uc004dmb.3		NaN		Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	SFPQ|ASPSCR1|PRCC|NONO|CLTC		papillary renal|alveolar soft part sarcoma|renal	ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	0				soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						c.(1114-1116)CTC>CTG		transcription factor E3							88.0	66.0	73.0					X																	48891000		2203	4300	6503	SO:0001819	synonymous_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48891000G>C	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1116C>G	X.37:g.48891000G>C						TFE3_uc004dmc.3_Silent_p.L267L|TFE3_uc004dme.1_RNA	p.L372L	NM_006521	NP_006512	P19532	TFE3_HUMAN			8	1354	-			372			Helix-loop-helix motif.		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Silent	SNP	ENST00000315869.7	37	c.1116C>G	CCDS14315.3																																																																																				0.567	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2		NM_006521		7	17	0	0	0	0.001984	0	7	17		
CACNA1F	778	broad.mit.edu	37	X	49079298	49079298	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:49079298C>T	ENST00000376265.2	-	16	2180		c.e16-1		CACNA1F_ENST00000376251.1_Splice_Site|CACNA1F_ENST00000480889.1_Splice_Site|CACNA1F_ENST00000323022.5_Splice_Site	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGTCAGGATCTGGGGGTGGG	0.547																																						uc004dnb.2		NaN																	1	Unknown(1)		central_nervous_system(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.e16-1		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						108.0	86.0	94.0					X																	49079298		2203	4300	6503	SO:0001630	splice_region_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49079298C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2119-1G>A	X.37:g.49079298C>T						CACNA1F_uc010nip.2_Splice_Site_p.I696_splice	p.I707_splice	NM_005183	NP_005174	O60840	CAC1F_HUMAN			16	2181	-								A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Splice_Site	SNP	ENST00000376265.2	37	c.2119_splice	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	c	17.22	3.334037	0.60853	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2849	0.73819	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA1F	48966242	1.000000	0.71417	0.956000	0.39512	0.812000	0.45895	7.731000	0.84895	1.843000	0.53566	0.411000	0.27672	.		0.547	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1		NM_005183	Intron	18	26	0	0	0	0.007413	0	18	26		
CCNB3	85417	broad.mit.edu	37	X	50052841	50052841	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:50052841G>A	ENST00000376042.1	+	6	1970	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E558K			Q8WWL7	CCNB3_HUMAN	cyclin B3	558					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TATGATTGGTGAAGATAAGAA	0.378																																						uc004dox.3		NaN																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(1672-1674)GAA>AAA		cyclin B3 isoform 3							39.0	34.0	35.0					X																	50052841		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50052841G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1672G>A	X.37:g.50052841G>A	ENSP00000365210:p.Glu558Lys					CCNB3_uc004doy.2_Missense_Mutation_p.E558K|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.E558K	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	1970	+	Ovarian(276;0.236)		558					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.1672G>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	9.293	1.051008	0.19827	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.35973	1.28;1.28	3.29	-4.0	0.04057	.	51.514900	0.00166	N	0.000000	T	0.16471	0.0396	N	0.02916	-0.46	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.20974	-1.0259	9	.	.	.	.	10.8844	0.46957	0.2397:0.0:0.7603:0.0	.	558	Q8WWL7	CCNB3_HUMAN	K	558	ENSP00000365210:E558K;ENSP00000276014:E558K	.	E	+	1	0	CCNB3	50069581	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.254000	0.08781	-0.972000	0.03559	0.384000	0.25694	GAA		0.378	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1				31	9	0	0	0	0.008361	0	31	9		
SHROOM4	57477	broad.mit.edu	37	X	50370665	50370665	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:50370665C>G	ENST00000289292.7	-	5	3189	c.2906G>C	c.(2905-2907)gGg>gCg	p.G969A	SHROOM4_ENST00000460112.3_Missense_Mutation_p.G853A|SHROOM4_ENST00000376020.2_Missense_Mutation_p.G969A			Q9ULL8	SHRM4_HUMAN	shroom family member 4	969					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCATTTGTCCCCAGGAAATTC	0.493																																						uc004dpe.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(2905-2907)GGG>GCG		shroom family member 4							115.0	89.0	98.0					X																	50370665		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50370665C>G	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2906G>C	X.37:g.50370665C>G	ENSP00000289292:p.Gly969Ala					SHROOM4_uc004dpd.3_RNA	p.G969A	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			5	2932	-	Ovarian(276;0.236)		969					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2906G>C	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	8.685	0.906042	0.17760	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.12672	3.08;3.08;2.66	5.15	2.15	0.27550	.	0.566027	0.18046	N	0.153444	T	0.07548	0.0190	L	0.29908	0.895	0.23913	N	0.996486	B	0.18461	0.028	B	0.18871	0.023	T	0.33828	-0.9853	10	0.20046	T	0.44	.	2.1549	0.03810	0.3027:0.3693:0.2293:0.0987	.	969	Q9ULL8	SHRM4_HUMAN	A	969;969;853	ENSP00000289292:G969A;ENSP00000365188:G969A;ENSP00000421450:G853A	ENSP00000289292:G969A	G	-	2	0	SHROOM4	50387405	0.904000	0.30761	1.000000	0.80357	0.976000	0.68499	0.035000	0.13797	0.621000	0.30232	0.600000	0.82982	GGG		0.493	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4		NM_020717		19	18	0	0	0	0.006122	0	19	18		
FGD1	2245	broad.mit.edu	37	X	54473866	54473866	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:54473866C>T	ENST00000375135.3	-	17	3191	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	820					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACGCTGTTCTCTGCAGCCACT	0.542																																						uc004dtg.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2458-2460)GAG>AAG		faciogenital dysplasia protein							74.0	44.0	54.0					X																	54473866		2203	4299	6502	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54473866C>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2458G>A	X.37:g.54473866C>T	ENSP00000364277:p.Glu820Lys						p.E820K	NM_004463	NP_004454	P98174	FGD1_HUMAN			17	3192	-			820					Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2458G>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247412	0.80024	.	.	ENSG00000102302	ENST00000375135	T	0.12672	2.66	5.33	5.33	0.75918	Pleckstrin homology-type (1);	0.000000	0.50627	D	0.000117	T	0.12475	0.0303	N	0.24115	0.695	0.58432	D	0.999997	P	0.37612	0.602	B	0.38264	0.269	T	0.07751	-1.0756	10	0.45353	T	0.12	-14.4509	16.8048	0.85623	0.0:1.0:0.0:0.0	.	820	P98174	FGD1_HUMAN	K	820	ENSP00000364277:E820K	ENSP00000364277:E820K	E	-	1	0	FGD1	54490591	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.420000	0.66441	2.229000	0.72834	0.529000	0.55759	GAG		0.542	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1		NM_004463		18	3	0	0	0	0.007413	0	18	3		
PAGE5	90737	broad.mit.edu	37	X	55247849	55247849	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:55247849G>A	ENST00000289619.5	+	2	339	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	PAGE5_ENST00000374955.3_Missense_Mutation_p.E12K|PAGE5_ENST00000374952.1_Missense_Mutation_p.E12K	NM_130467.3	NP_569734.2	Q96GU1	PAGE5_HUMAN	P antigen family, member 5 (prostate associated)	32										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						CCAATCCTCAGAAAGAGGAAA	0.328																																						uc004duj.2		NaN																	0					0						c.(94-96)GAA>AAA		P antigen family, member 5 isoform 1							112.0	92.0	99.0					X																	55247849		2203	4300	6503	SO:0001583	missense	90737							g.chrX:55247849G>A	AJ344352	CCDS14368.1, CCDS35306.1	Xp11.22	2009-08-18			ENSG00000158639	ENSG00000158639			29992	protein-coding gene	gene with protein product	"""cancer/testis antigen family 16, member 1"", ""cancer/testis antigen family 16, member 2"""					11920606, 11992404	Standard	XM_006724613		Approved	PAGE-5, CT16.1, CT16.2	uc004duk.3	Q96GU1	OTTHUMG00000021650	ENST00000289619.5:c.94G>A	X.37:g.55247849G>A	ENSP00000289619:p.Glu32Lys					PAGE5_uc004duk.2_Missense_Mutation_p.E12K	p.E32K	NM_130467	NP_569734	Q96GU1	GGEE1_HUMAN			2	336	+			32					Q2NL97|Q5JUL0|Q8WWL9	Missense_Mutation	SNP	ENST00000289619.5	37	c.94G>A	CCDS14368.1	.	.	.	.	.	.	.	.	.	.	.	6.524	0.464955	0.12402	.	.	ENSG00000158639	ENST00000289619;ENST00000374955;ENST00000374952	T;T;T	0.10005	2.92;2.92;2.92	1.09	0.154	0.14901	.	.	.	.	.	T	0.09158	0.0226	M	0.67953	2.075	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.46679	-0.9174	9	0.07990	T	0.79	.	3.2185	0.06707	0.3218:0.0:0.6782:0.0	.	32	Q96GU1	GGEE1_HUMAN	K	32;12;12	ENSP00000289619:E32K;ENSP00000364093:E12K;ENSP00000364090:E12K	ENSP00000289619:E32K	E	+	1	0	PAGE5	55264574	0.001000	0.12720	0.001000	0.08648	0.116000	0.19942	0.160000	0.16462	-0.012000	0.14223	0.279000	0.19357	GAA		0.328	PAGE5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056861.1		NM_130467		19	24	0	0	0	0.007413	0	19	24		
ZXDA	7789	broad.mit.edu	37	X	57935505	57935505	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:57935505G>A	ENST00000358697.4	-	1	1562	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	450	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AGTCACAAAGGAAAGGTCTCT	0.512																																						uc004dve.2		NaN																	0				ovary(1)	1						c.(1348-1350)TTC>TTT		zinc finger, X-linked, duplicated A							67.0	63.0	65.0					X																	57935505		2203	4300	6503	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935505G>A	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1350C>T	X.37:g.57935505G>A							p.F450F	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	1563	-			450			C2H2-type 7.|Required for interaction with ZXDC.		Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.1350C>T	CCDS14376.1																																																																																				0.512	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1		NM_007156		17	24	0	0	0	0.010504	0	17	24		
MED12	9968	broad.mit.edu	37	X	70355032	70355032	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:70355032G>A	ENST00000374080.3	+	36	4986	c.4954G>A	c.(4954-4956)Gag>Aag	p.E1652K	MED12_ENST00000374102.1_Missense_Mutation_p.E1652K|MED12_ENST00000333646.6_Missense_Mutation_p.E1652K			Q93074	MED12_HUMAN	mediator complex subunit 12	1652	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATCACGTGTGAGCCACAGGG	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(4954-4956)GAG>AAG		mediator complex subunit 12							78.0	76.0	77.0					X																	70355032		2108	4217	6325	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70355032G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4954G>A	X.37:g.70355032G>A	ENSP00000363193:p.Glu1652Lys					MED12_uc011mpq.1_Missense_Mutation_p.E1652K|MED12_uc004dyz.2_Missense_Mutation_p.E1652K|MED12_uc004dza.2_Missense_Mutation_p.E1499K|MED12_uc010nla.2_Missense_Mutation_p.E278K	p.E1652K	NM_005120	NP_005111	Q93074	MED12_HUMAN			36	5153	+	Renal(35;0.156)		1652			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4954G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	-	31	5.061077	0.93846	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.64085	-0.07;-0.08;-0.08;-0.08;0.92	3.97	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	M	0.69823	2.125	0.80722	D	1	D;P;D;D	0.63046	0.992;0.833;0.959;0.986	D;P;P;D	0.68765	0.96;0.663;0.846;0.914	T	0.79042	-0.1965	10	0.49607	T	0.09	-19.8104	15.8412	0.78845	0.0:0.0:1.0:0.0	.	1652;1499;1652;1652	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	K	1652;1652;1652;1652;1620;397	ENSP00000333125:E1652K;ENSP00000363215:E1652K;ENSP00000363193:E1652K;ENSP00000414203:E1620K;ENSP00000408388:E397K	ENSP00000333125:E1652K	E	+	1	0	MED12	70271757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.652000	0.98499	1.987000	0.57996	0.529000	0.55759	GAG		0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		21	1	0	0	0	0.008871	0	21	1		
RPS4X	6191	broad.mit.edu	37	X	71494972	71494972	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:71494972C>T	ENST00000316084.6	-	4	395	c.291G>A	c.(289-291)gaG>gaA	p.E97E	RPS4X_ENST00000373626.3_Silent_p.E97E|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	97	S4 RNA-binding.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					GACGGAAATTCTCTCCCGTCT	0.483																																						uc004ear.2		NaN																	0					0						c.(289-291)GAG>GAA		ribosomal protein S4, X-linked X isoform							75.0	56.0	62.0					X																	71494972		2203	4300	6503	SO:0001819	synonymous_variant	6191				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	g.chrX:71494972C>T		CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.291G>A	X.37:g.71494972C>T						RPS4X_uc011mqb.1_Silent_p.E97E	p.E97E	NM_001007	NP_000998	P62701	RS4X_HUMAN			4	387	-	Renal(35;0.156)		97			S4 RNA-binding.		P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Silent	SNP	ENST00000316084.6	37	c.291G>A	CCDS14418.1																																																																																				0.483	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1		NM_001007		10	6	0	0	0	0.008291	0	10	6		
RPS4X	6191	broad.mit.edu	37	X	71494974	71494974	+	Missense_Mutation	SNP	C	C	G	rs113141010		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:71494974C>G	ENST00000316084.6	-	4	393	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	RPS4X_ENST00000373626.3_Missense_Mutation_p.E97Q|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	97	S4 RNA-binding.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					CGGAAATTCTCTCCCGTCTTG	0.483																																						uc004ear.2		NaN																	0					0						c.(289-291)GAG>CAG		ribosomal protein S4, X-linked X isoform							74.0	55.0	62.0					X																	71494974		2203	4300	6503	SO:0001583	missense	6191				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	g.chrX:71494974C>G		CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.289G>C	X.37:g.71494974C>G	ENSP00000362744:p.Glu97Gln					RPS4X_uc011mqb.1_Missense_Mutation_p.E97Q	p.E97Q	NM_001007	NP_000998	P62701	RS4X_HUMAN			4	385	-	Renal(35;0.156)		97			S4 RNA-binding.		P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	ENST00000316084.6	37	c.289G>C	CCDS14418.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843681	0.91197	.	.	ENSG00000198034	ENST00000316084;ENST00000373626	.	.	.	4.89	4.89	0.63831	Ribosomal protein S4e, central (2);RNA-binding S4 (2);	0.000000	0.64402	D	0.000001	D	0.84261	0.5433	M	0.92923	3.36	0.80722	D	1	D;P	0.60160	0.987;0.835	D;P	0.63703	0.917;0.88	D	0.88212	0.2891	9	0.66056	D	0.02	.	14.7275	0.69354	0.0:1.0:0.0:0.0	.	97;97	B7Z1M6;P62701	.;RS4X_HUMAN	Q	97	.	ENSP00000362744:E97Q	E	-	1	0	RPS4X	71411699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.642000	0.83385	2.147000	0.66899	0.600000	0.82982	GAG		0.483	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1		NM_001007		10	6	0	0	0	0.008291	0	10	6		
PHKA1	5255	broad.mit.edu	37	X	71846900	71846900	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:71846900C>G	ENST00000373542.4	-	17	1874		c.e17-1		PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000373545.3_Splice_Site|PHKA1_ENST00000373539.3_Splice_Site	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCATCTTCATCTTGAAATGAA	0.363																																						uc004eax.3		NaN																	0				ovary(3)|skin(1)	4						c.e17-1		phosphorylase kinase, alpha 1 (muscle) isoform							134.0	109.0	118.0					X																	71846900		2203	4300	6503	SO:0001630	splice_region_variant	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71846900C>G		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1715-1G>C	X.37:g.71846900C>G						PHKA1_uc004eay.3_Splice_Site_p.D572_splice|PHKA1_uc011mqi.1_Splice_Site_p.D572_splice	p.D572_splice	NM_002637	NP_002628	P46020	KPB1_HUMAN			17	2016	-	Renal(35;0.156)							B7ZL05|B7ZL07|Q2M3D7	Splice_Site	SNP	ENST00000373542.4	37	c.1715_splice	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855598	0.71834	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5424	0.68005	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHKA1	71763625	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.705000	0.74644	2.013000	0.59113	0.422000	0.28245	.		0.363	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			Intron	26	11	0	0	0	0.00333	0	26	11		
RLIM	51132	broad.mit.edu	37	X	73812835	73812835	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:73812835G>A	ENST00000332687.6	-	4	533	c.315C>T	c.(313-315)gtC>gtT	p.V105V	RLIM_ENST00000349225.2_Silent_p.V105V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	105					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGTTTGTCTGACAGAGTTAA	0.428																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NaN																	0				ovary(2)	2						c.(313-315)GTC>GTT		ring finger protein, LIM domain interacting							78.0	69.0	72.0					X																	73812835		2203	4297	6500	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812835G>A	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.315C>T	X.37:g.73812835G>A						RLIM_uc004ebw.2_Silent_p.V105V	p.V105V	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	605	-			105					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.315C>T	CCDS14427.1																																																																																				0.428	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1		NM_016120		39	22	0	0	0	0.00623	0	39	22		
PCDH19	57526	broad.mit.edu	37	X	99661856	99661856	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:99661856G>C	ENST00000373034.4	-	1	3415	c.1740C>G	c.(1738-1740)aaC>aaG	p.N580K	PCDH19_ENST00000420881.2_Missense_Mutation_p.N580K|PCDH19_ENST00000255531.7_Missense_Mutation_p.N580K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	580	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTATGCCAGAGTTGCGGGGTA	0.587																																						uc010nmz.2		NaN																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1738-1740)AAC>AAG		protocadherin 19 isoform b							86.0	83.0	84.0					X																	99661856		2084	4182	6266	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661856G>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1740C>G	X.37:g.99661856G>C	ENSP00000362125:p.Asn580Lys					PCDH19_uc004efw.3_Missense_Mutation_p.N580K|PCDH19_uc004efx.3_Missense_Mutation_p.N580K	p.N580K	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	3416	-			580			Cadherin 6.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1740C>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340059	0.24339	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.62639	0.01;0.01;0.01	5.84	4.06	0.47325	Cadherin (3);Cadherin-like (1);	0.044928	0.85682	D	0.000000	T	0.72550	0.3474	M	0.91972	3.26	0.53688	D	0.999975	B;B;B	0.26577	0.153;0.124;0.151	B;B;B	0.37888	0.078;0.169;0.26	T	0.71286	-0.4638	10	0.72032	D	0.01	.	9.4367	0.38643	0.2249:0.0:0.7751:0.0	.	580;580;580	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	K	580	ENSP00000400327:N580K;ENSP00000362125:N580K;ENSP00000255531:N580K	ENSP00000255531:N580K	N	-	3	2	PCDH19	99548512	1.000000	0.71417	0.956000	0.39512	0.908000	0.53690	1.636000	0.37144	0.587000	0.29643	0.513000	0.50165	AAC		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2		NM_020766		17	12	0	0	0	0.006122	0	17	12		
RNF128	79589	broad.mit.edu	37	X	105937496	105937496	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:105937496G>C	ENST00000324342.3	+	1	429	c.264G>C	c.(262-264)aaG>aaC	p.K88N		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	113	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTAATACTAAGAAGCCCTGGA	0.408																																						uc004emk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(262-264)AAG>AAC		ring finger protein 128 isoform 2							112.0	97.0	102.0					X																	105937496		2203	4299	6502	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937496G>C	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.264G>C	X.37:g.105937496G>C	ENSP00000316127:p.Lys88Asn						p.K88N	NM_024539	NP_078815	Q8TEB7	RN128_HUMAN			1	429	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000324342.3	37	c.264G>C	CCDS14520.1	.	.	.	.	.	.	.	.	.	.	G	3.631	-0.075536	0.07184	.	.	ENSG00000133135	ENST00000418562;ENST00000324342	T;T	0.05855	3.38;3.38	5.8	2.91	0.33838	.	.	.	.	.	T	0.01976	0.0062	N	0.01277	-0.915	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47849	-0.9085	9	0.18710	T	0.47	.	3.5357	0.07793	0.0818:0.1433:0.3483:0.4266	.	88	Q8TEB7-2	.	N	61;88	ENSP00000412610:K61N;ENSP00000316127:K88N	ENSP00000316127:K88N	K	+	3	2	RNF128	105824152	0.000000	0.05858	0.041000	0.18516	0.834000	0.47266	0.374000	0.20501	0.150000	0.19136	0.594000	0.82650	AAG		0.408	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1		NM_024539		21	11	0	0	0	0.008871	0	21	11		
GRIA3	2892	broad.mit.edu	37	X	122561889	122561889	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:122561889G>C	ENST00000371251.1	+	12	2027	c.1975G>C	c.(1975-1977)Gag>Cag	p.E659Q	GRIA3_ENST00000371256.5_Missense_Mutation_p.E659Q|GRIA3_ENST00000264357.5_Missense_Mutation_p.E659Q|GRIA3_ENST00000542149.1_Missense_Mutation_p.E659Q			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	659					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CCTGACTGTGGAGAGGATGGT	0.463																																						uc004etq.3		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1975-1977)GAG>CAG		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						145.0	122.0	130.0					X																	122561889		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122561889G>C	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1975G>C	X.37:g.122561889G>C	ENSP00000360297:p.Glu659Gln					GRIA3_uc004etr.3_Missense_Mutation_p.E659Q|GRIA3_uc004ets.3_RNA	p.E659Q	NM_007325	NP_015564	P42263	GRIA3_HUMAN			13	2268	+			659			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1975G>C	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795309	0.90453	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.45	5.45	0.79879	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	M	0.70595	2.14	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.79108	0.992;0.986	T	0.64537	-0.6384	10	0.87932	D	0	.	17.4594	0.87616	0.0:0.0:1.0:0.0	.	659;659	P42263;P42263-2	GRIA3_HUMAN;.	Q	659	ENSP00000264357:E659Q;ENSP00000446146:E659Q;ENSP00000360302:E659Q;ENSP00000360297:E659Q	ENSP00000264357:E659Q	E	+	1	0	GRIA3	122389570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.423000	0.82170	0.600000	0.82982	GAG		0.463	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1		NM_000828		51	24	0	0	0	0.01441	0	51	24		
GRIA3	2892	broad.mit.edu	37	X	122598816	122598816	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:122598816G>A	ENST00000371251.1	+	13	2229	c.2177G>A	c.(2176-2178)cGa>cAa	p.R726Q	AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000371256.5_Missense_Mutation_p.R726Q|GRIA3_ENST00000264357.5_Missense_Mutation_p.R726Q|GRIA3_ENST00000542149.1_Missense_Mutation_p.R726Q			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	726					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GCCCGAGTGCGAAAGTCCAAG	0.458																																						uc004etq.3		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2176-2178)CGA>CAA		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						102.0	88.0	93.0					X																	122598816		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122598816G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2177G>A	X.37:g.122598816G>A	ENSP00000360297:p.Arg726Gln					GRIA3_uc004etr.3_Missense_Mutation_p.R726Q|GRIA3_uc004ets.3_RNA	p.R726Q	NM_007325	NP_015564	P42263	GRIA3_HUMAN			14	2470	+			726			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.2177G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942258	0.73672	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.12	5.12	0.69794	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	L	0.53561	1.675	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.975	T	0.62959	-0.6743	10	0.59425	D	0.04	.	16.5308	0.84357	0.0:0.0:1.0:0.0	.	726;726	P42263;P42263-2	GRIA3_HUMAN;.	Q	726	ENSP00000264357:R726Q;ENSP00000446146:R726Q;ENSP00000360302:R726Q;ENSP00000360297:R726Q	ENSP00000264357:R726Q	R	+	2	0	GRIA3	122426497	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	9.864000	0.99589	2.104000	0.64026	0.415000	0.27848	CGA		0.458	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1		NM_000828		24	13	0	0	0	0.004656	0	24	13		
USP26	83844	broad.mit.edu	37	X	132162129	132162129	+	Silent	SNP	C	C	T	rs371531483		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:132162129C>T	ENST00000511190.1	-	6	589	c.120G>A	c.(118-120)ctG>ctA	p.L40L	USP26_ENST00000370832.1_Silent_p.L40L|USP26_ENST00000406273.1_Silent_p.L40L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	40					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTTTGAAATACAGCACCAGTC	0.353																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1		NaN																	0				lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(118-120)CTG>CTA		ubiquitin-specific protease 26		C		1,3834		0,1,1631,571	68.0	67.0	68.0		120	-0.6	0.0	X		68	0,6724		0,0,2428,1868	no	coding-synonymous	USP26	NM_031907.1		0,1,4059,2439	TT,TC,CC,C		0.0,0.0261,0.0095		40/914	132162129	1,10558	2203	4296	6499	SO:0001819	synonymous_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132162129C>T	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.120G>A	X.37:g.132162129C>T						USP26_uc011mvf.1_Silent_p.L40L	p.L40L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	590	-	Acute lymphoblastic leukemia(192;0.000127)		40					B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	c.120G>A	CCDS14635.1																																																																																				0.353	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1		NM_031907		23	17	0	0	0	0.012319	0	23	17		
FGF13	2258	broad.mit.edu	37	X	138286239	138286239	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:138286239C>T	ENST00000370603.3	-	1	30	c.31G>A	c.(31-33)Gag>Aag	p.E11K	FGF13_ENST00000541469.1_Missense_Mutation_p.E11K			Q92913	FGF13_HUMAN	fibroblast growth factor 13	0	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCATCTTTCTCCTCTTTGGGC	0.622																																						uc004faq.2		NaN																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(31-33)GAG>AAG		fibroblast growth factor 13 isoform 3							94.0	104.0	101.0					X																	138286239		1568	3582	5150	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:138286239C>T	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000370603.3:c.31G>A	X.37:g.138286239C>T	ENSP00000359635:p.Glu11Lys					FGF13_uc004far.2_5'UTR|FGF13_uc011mwj.1_Missense_Mutation_p.E11K|FGF13_uc011mwk.1_Missense_Mutation_p.E11K	p.E11K	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN			1	207	-	Acute lymphoblastic leukemia(192;0.000127)		Error:Variant_position_missing_in_Q92913_after_alignment					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000370603.3	37	c.31G>A	CCDS55513.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323668	0.41096	.	.	ENSG00000129682	ENST00000370603;ENST00000541469;ENST00000436198;ENST00000448673	T;T;T	0.80393	-1.37;-1.07;-1.37	5.43	5.43	0.79202	.	.	.	.	.	T	0.71753	0.3377	N	0.14661	0.345	0.80722	D	1	B;P	0.34587	0.001;0.458	B;B	0.39152	0.002;0.292	T	0.75918	-0.3148	9	0.87932	D	0	.	15.4669	0.75409	0.0:1.0:0.0:0.0	.	11;11	B7Z8N0;B7Z4M7	.;.	K	11	ENSP00000359635:E11K;ENSP00000437903:E11K;ENSP00000396198:E11K	ENSP00000359635:E11K	E	-	1	0	FGF13	138113905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.403000	0.59729	2.246000	0.74042	0.600000	0.82982	GAG		0.622	FGF13-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_004114		11	6	0	0	0	0.008291	0	11	6		
ZNF185	7739	broad.mit.edu	37	X	152137987	152137987	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:152137987C>T	ENST00000370268.4	+	21	1967	c.1930C>T	c.(1930-1932)Cta>Tta	p.L644L	ZNF185_ENST00000449285.2_Silent_p.L645L|ZNF185_ENST00000370270.2_Silent_p.L676L|ZNF185_ENST00000535861.1_Silent_p.L676L|ZNF185_ENST00000454925.1_Silent_p.L282L|ZNF185_ENST00000539731.1_Silent_p.L647L|ZNF185_ENST00000318529.8_Silent_p.L423L|ZNF185_ENST00000324823.6_Silent_p.L412L|ZNF185_ENST00000318504.7_Silent_p.L585L			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	644	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGATTACCCTAGAACATCT	0.473																																						uc010ntv.1		NaN																	0				ovary(3)	3						c.(1930-1932)CTA>TTA		zinc finger protein 185							103.0	94.0	97.0					X																	152137987		1962	4121	6083	SO:0001819	synonymous_variant	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152137987C>T	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1930C>T	X.37:g.152137987C>T						ZNF185_uc011myg.1_Silent_p.L676L|ZNF185_uc011myh.1_Silent_p.L647L|ZNF185_uc011myi.1_Silent_p.L615L|ZNF185_uc011myj.1_Silent_p.L585L|ZNF185_uc011myk.1_Silent_p.L645L|ZNF185_uc004fgw.3_Silent_p.L423L|ZNF185_uc004fgu.2_Silent_p.L273L|ZNF185_uc004fgv.2_Silent_p.L341L|ZNF185_uc004fgx.2_Silent_p.L282L	p.L644L	NM_007150	NP_009081	O15231	ZN185_HUMAN			21	1967	+	Acute lymphoblastic leukemia(192;6.56e-05)		644			LIM zinc-binding.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Silent	SNP	ENST00000370268.4	37	c.1930C>T	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	c	8.150	0.787081	0.16189	.	.	ENSG00000147394	ENST00000426821	.	.	.	4.81	3.89	0.44902	.	.	.	.	.	T	0.60130	0.2245	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.56232	-0.8013	4	.	.	.	-13.0431	10.0261	0.42072	0.0:0.8909:0.0:0.1091	.	.	.	.	L	429	.	.	P	+	2	0	ZNF185	151888643	0.247000	0.23920	0.292000	0.24919	0.986000	0.74619	0.729000	0.26028	0.887000	0.36136	0.525000	0.51046	CCT		0.473	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1		NM_007150		7	3	0	0	0	0.004482	0	7	3		
HCFC1	3054	broad.mit.edu	37	X	153223253	153223253	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:153223253G>C	ENST00000310441.7	-	12	3079	c.2113C>G	c.(2113-2115)Cct>Gct	p.P705A	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.P636A|HCFC1_ENST00000369984.4_Missense_Mutation_p.P705A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	705	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCACAGGACCCGTGGAC	0.547																																						uc004fjp.2		NaN																	0				ovary(2)	2						c.(2113-2115)CCT>GCT		host cell factor 1							83.0	86.0	85.0					X																	153223253		2005	4150	6155	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153223253G>C		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2113C>G	X.37:g.153223253G>C	ENSP00000309555:p.Pro705Ala						p.P705A	NM_005334	NP_005325	P51610	HCFC1_HUMAN			12	2641	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		705			Interaction with SIN3A.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2113C>G	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224387	0.79576	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.02944	4.1;4.12;4.11	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.04092	0.0114	L	0.27053	0.805	0.49483	D	0.999797	P	0.45902	0.868	B	0.43658	0.426	T	0.53408	-0.8443	10	0.59425	D	0.04	.	16.5894	0.84761	0.0:0.0:1.0:0.0	.	705	P51610	HCFC1_HUMAN	A	705;705;636	ENSP00000309555:P705A;ENSP00000359001:P705A;ENSP00000346174:P636A	ENSP00000309555:P705A	P	-	1	0	HCFC1	152876447	1.000000	0.71417	0.860000	0.33809	0.973000	0.67179	7.378000	0.79679	2.174000	0.68829	0.600000	0.82982	CCT		0.547	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4		NM_005334		19	13	0	0	0	0.012319	0	19	13		
FLNA	2316	broad.mit.edu	37	X	153580262	153580262	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:153580262G>C	ENST00000369850.3	-	42	7133	c.6897C>G	c.(6895-6897)gtC>gtG	p.V2299V	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Silent_p.V2259V|FLNA_ENST00000369856.3_Silent_p.V432V|FLNA_ENST00000360319.4_Silent_p.V2291V|FLNA_ENST00000422373.1_Silent_p.V2291V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2299					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCTCCTGGACCACATAAG	0.637																																						uc004fkk.2		NaN																	0				breast(6)	6						c.(6895-6897)GTC>GTG		filamin A, alpha isoform 2							36.0	39.0	38.0					X																	153580262		1941	4134	6075	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153580262G>C	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6897C>G	X.37:g.153580262G>C						FLNA_uc004fki.2_Silent_p.V342V|FLNA_uc011mzn.1_Silent_p.V432V|FLNA_uc010nuu.1_Silent_p.V2291V	p.V2299V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			42	7146	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2299			Filamin 21.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.6897C>G	CCDS48194.1																																																																																				0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3				9	7	0	0	0	0.004482	0	9	7		
IL9R	3581	broad.mit.edu	37	X	155232652	155232652	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:155232652G>A	ENST00000244174.5	+	2	289	c.110G>A	c.(109-111)tGc>tAc	p.C37Y	IL9R_ENST00000540897.1_Missense_Mutation_p.C74Y|IL9R_ENST00000424344.3_Missense_Mutation_p.C16Y|IL9R_ENST00000369423.2_Missense_Mutation_p.C84Y	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	37					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCTGTGTCTGCTTGGGAGTC	0.597																																						uc004fnv.1		NaN																	0					0						c.(109-111)TGC>TAC		interleukin 9 receptor precursor							182.0	178.0	180.0					X																	155232652		2203	4296	6499	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155232652G>A	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.110G>A	X.37:g.155232652G>A	ENSP00000244174:p.Cys37Tyr					IL9R_uc010nvn.2_Missense_Mutation_p.C16Y|IL9R_uc004fnu.1_Missense_Mutation_p.C84Y	p.C37Y	NM_002186	NP_002177	Q01113	IL9R_HUMAN			2	289	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		37					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.110G>A	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	g	9.548	1.115165	0.20795	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.26373	2.65;2.67;1.74;1.75	1.29	1.29	0.21616	.	5.944110	0.00508	N	0.000174	T	0.33760	0.0874	.	.	.	0.09310	N	1	P;D;P	0.54964	0.948;0.969;0.804	B;P;B	0.50970	0.438;0.655;0.367	T	0.18999	-1.0319	9	0.66056	D	0.02	-22.0387	5.5447	0.17057	0.0:0.0:1.0:0.0	.	16;37;84	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	Y	37;16;16;84;74	ENSP00000244174:C37Y;ENSP00000388918:C16Y;ENSP00000358431:C84Y;ENSP00000438112:C74Y	ENSP00000244174:C37Y	C	+	2	0	IL9R	154885846	0.007000	0.16637	0.003000	0.11579	0.152000	0.21847	0.311000	0.19380	0.932000	0.37266	0.287000	0.19450	TGC		0.597	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1		NM_002186		24	56	0	0	0	0.00333	0	24	56		
USP9Y	8287	broad.mit.edu	37	Y	14885574	14885574	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrY:14885574G>T	ENST00000338981.3	+	17	2991	c.2046G>T	c.(2044-2046)tgG>tgT	p.W682C	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	682					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AACAAATATGGAAGTGCTTAG	0.393																																						uc004fst.1		NaN																	0					0						c.(2044-2046)TGG>TGT		ubiquitin specific protease 9, Y-linked							91.0	76.0	80.0					Y																	14885574		610	1966	2576	SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14885574G>T	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.2046G>T	Y.37:g.14885574G>T	ENSP00000342812:p.Trp682Cys					USP9Y_uc010nwu.1_RNA	p.W682C	NM_004654	NP_004645	O00507	USP9Y_HUMAN			17	2991	+			682					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.2046G>T	CCDS14781.1																																																																																				0.393	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2		NM_004654		51	20	1	0	2.31418e-15	0.01441	2.43303e-15	51	20		
USP9Y	8287	broad.mit.edu	37	Y	14885804	14885804	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrY:14885804G>C	ENST00000338981.3	+	17	3221	c.2276G>C	c.(2275-2277)aGa>aCa	p.R759T	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	759					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATAGCAAAAAGAAGATCCTAT	0.353																																						uc004fst.1		NaN																	0					0						c.(2275-2277)AGA>ACA		ubiquitin specific protease 9, Y-linked							35.0	29.0	31.0					Y																	14885804		589	1922	2511	SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14885804G>C	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.2276G>C	Y.37:g.14885804G>C	ENSP00000342812:p.Arg759Thr					USP9Y_uc010nwu.1_RNA	p.R759T	NM_004654	NP_004645	O00507	USP9Y_HUMAN			17	3221	+			759					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.2276G>C	CCDS14781.1																																																																																				0.353	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2		NM_004654		21	8	0	0	0	0.012319	0	21	8		
USP9Y	8287	broad.mit.edu	37	Y	14885824	14885824	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrY:14885824G>T	ENST00000338981.3	+	17	3241	c.2296G>T	c.(2296-2298)Gat>Tat	p.D766Y	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	766					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TATGATGGATGATTTGGAATT	0.313																																						uc004fst.1		NaN																	0					0						c.(2296-2298)GAT>TAT		ubiquitin specific protease 9, Y-linked							30.0	24.0	26.0					Y																	14885824		585	1914	2499	SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14885824G>T	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.2296G>T	Y.37:g.14885824G>T	ENSP00000342812:p.Asp766Tyr					USP9Y_uc010nwu.1_RNA	p.D766Y	NM_004654	NP_004645	O00507	USP9Y_HUMAN			17	3241	+			766					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.2296G>T	CCDS14781.1																																																																																				0.313	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2		NM_004654		18	6	1	0	1.33834e-09	0.007413	1.38957e-09	18	6		
PIGK	10026	broad.mit.edu	37	1	77588010	77588010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:77588010delC	ENST00000370812.3	-	10	1044	c.1021delG	c.(1021-1023)gaafs	p.E341fs	PIGK_ENST00000445065.1_Frame_Shift_Del_p.E247fs|PIGK_ENST00000370813.5_Frame_Shift_Del_p.E265fs	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	341					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TTCAGAGGTTCCATTAGTTTC	0.313																																						uc001dhk.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1021-1023)GAAfs		phosphatidylinositol glycan anchor biosynthesis,							137.0	140.0	139.0					1																	77588010		2203	4300	6503	SO:0001589	frameshift_variant	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77588010delC	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.1021delG	1.37:g.77588010delC	ENSP00000359848:p.Glu341fs					PIGK_uc010orj.1_Frame_Shift_Del_p.E265fs|PIGK_uc009wbx.2_Frame_Shift_Del_p.E247fs	p.E341fs	NM_005482	NP_005473	Q92643	GPI8_HUMAN			10	1066	-			341	Missing: Loss of activity.		Lumenal (Potential).		B2R7K3|B4E2M3|O14822|Q5TG77	Frame_Shift_Del	DEL	ENST00000370812.3	37	c.1021delG	CCDS674.1																																																																																				0.313	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1		NM_005482		21	99	NaN	NaN	NaN	NaN	NaN	21	99	---	---
HIST3H2A	92815	broad.mit.edu	37	1	228645368	228645386	+	Frame_Shift_Del	DEL	AGACCGGGGCGCCGGCGCC	AGACCGGGGCGCCGGCGCC	-	rs200407249|rs373301076|rs143327597|rs200984136	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:228645368_228645386delAGACCGGGGCGCCGGCGCC	ENST00000366695.2	-	1	174_192	c.133_151delGGCGCCGGCGCCCCGGTCT	c.(133-153)ggcgccggcgccccggtctatfs	p.GAGAPVY45fs	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	45					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GCGGCCAGATAGACCGGGGCGCCGGCGCCCACGCGCTCC	0.703																																						uc001hsy.2		NaN																	0				ovary(1)	1						c.(133-153)GGCGCCGGCGCCCCGGTCTATfs		histone cluster 3, H2a																																				SO:0001589	frameshift_variant	92815				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645368_228645386delAGACCGGGGCGCCGGCGCC	AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.133_151delGGCGCCGGCGCCCCGGTCT	1.37:g.228645368_228645386delAGACCGGGGCGCCGGCGCC	ENSP00000355656:p.Gly45fs					HIST3H2BB_uc001hsz.2_5'Flank	p.G45fs	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN			1	175_193	-		Prostate(94;0.183)	45_51					B2R4S4	Frame_Shift_Del	DEL	ENST00000366695.2	37	c.133_151delGGCGCCGGCGCCCCGGTCT	CCDS1573.1																																																																																				0.703	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1		NM_033445		7	10	NaN	NaN	NaN	NaN	NaN	7	10	---	---
HERC4	26091	broad.mit.edu	37	10	69748513	69748513	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:69748513delC	ENST00000395198.3	-	15	1960	c.1713delG	c.(1711-1713)ttgfs	p.L571fs	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Frame_Shift_Del_p.L571fs|HERC4_ENST00000373700.4_Frame_Shift_Del_p.L571fs|HERC4_ENST00000277817.6_Frame_Shift_Del_p.L461fs	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	571					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TGTAGAGTTTCAAAAGATGTA	0.343																																						uc001jng.3		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1711-1713)TTGfs		hect domain and RLD 4 isoform a							114.0	124.0	121.0					10																	69748513		2203	4294	6497	SO:0001589	frameshift_variant	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69748513delC	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1713delG	10.37:g.69748513delC	ENSP00000378624:p.Leu571fs					HERC4_uc009xpq.2_Frame_Shift_Del_p.L112fs|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Frame_Shift_Del_p.L571fs|HERC4_uc009xpr.2_Frame_Shift_Del_p.L571fs|HERC4_uc001jni.3_Frame_Shift_Del_p.L315fs|HERC4_uc001jnj.2_Frame_Shift_Del_p.L571fs	p.L571fs	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN			15	2024	-			571					Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Frame_Shift_Del	DEL	ENST00000395198.3	37	c.1713delG	CCDS41533.1																																																																																				0.343	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1		NM_015601		57	176	NaN	NaN	NaN	NaN	NaN	57	176	---	---
CHUK	1147	broad.mit.edu	37	10	101953863	101953865	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:101953863_101953865delTCT	ENST00000370397.7	-	18	1936_1938	c.1850_1852delAGA	c.(1849-1854)aagatt>att	p.K617del	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	617					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGATCAATAATCTTCTGCTTACA	0.433																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.(1849-1854)AAGATT>ATT		conserved helix-loop-helix ubiquitous kinase																																				SO:0001651	inframe_deletion	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101953863_101953865delTCT	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1850_1852delAGA	10.37:g.101953866_101953868delTCT	ENSP00000359424:p.Lys617del						p.K617del	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	18	1905_1907	-		Colorectal(252;0.117)	617					O14666|Q13132|Q5W0I4|Q92467	In_Frame_Del	DEL	ENST00000370397.7	37	c.1850_1852delAGA	CCDS7488.1																																																																																				0.433	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1		NM_001278		41	44	NaN	NaN	NaN	NaN	NaN	41	44	---	---
AVIL	10677	broad.mit.edu	37	12	58191766	58191783	+	Splice_Site	DEL	CAGAGAGGTAATTCTAAG	CAGAGAGGTAATTCTAAG	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:58191766_58191783delCAGAGAGGTAATTCTAAG	ENST00000257861.3	-	19	2777_2789	c.2347_2359delCTTAGAATTACCTCTCTG	c.(2347-2361)cttagaattacctct>ct	p.LRITS783del	AVIL_ENST00000537081.1_Splice_Site_p.LRITS776del|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000548851.1_Intron	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	783	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.|Headpiece. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AAGTCCTGTTCAGAGAGGTAATTCTAAGAGAGAAAACA	0.436																																						uc001sqj.1		NaN																	0				central_nervous_system(1)	1						c.e19-1		advillin																																				SO:0001630	splice_region_variant	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58191766_58191783delCAGAGAGGTAATTCTAAG	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.2347-1CTTAGAATTACCTCTCTG>-	12.37:g.58191766_58191783delCAGAGAGGTAATTCTAAG						AVIL_uc009zqe.1_Splice_Site_p.N776_splice	p.N783_splice	NM_006576	NP_006567	O75366	AVIL_HUMAN			19	2376	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)							B2RAU7|Q2NKM9	Splice_Site	DEL	ENST00000257861.3	37	c.2347_splice	CCDS8959.1																																																																																				0.436	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1		NM_006576	In_Frame_Del	20	57	NaN	NaN	NaN	NaN	NaN	20	57	---	---
SLC25A3	5250	broad.mit.edu	37	12	98995210	98995211	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:98995210_98995211delTA	ENST00000228318.3	+	8	1113_1114	c.993_994delTA	c.(991-996)tttatcfs	p.I332fs	SLC25A3_ENST00000548847.1_Frame_Shift_Del_p.I294fs|SLC25A3_ENST00000552981.1_Frame_Shift_Del_p.I331fs|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Frame_Shift_Del_p.I331fs|SLC25A3_ENST00000549338.1_Frame_Shift_Del_p.I331fs|SLC25A3_ENST00000551917.1_Frame_Shift_Del_p.I332fs|SLC25A3_ENST00000401722.3_Frame_Shift_Del_p.I331fs	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	332					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TACAGTGGTTTATCTATGACTC	0.46																																						uc001tfo.2		NaN																	0					0						c.(991-996)TTTATCfs		solute carrier family 25 member 3 isoform a																																				SO:0001589	frameshift_variant	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98995210_98995211delTA		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.993_994delTA	12.37:g.98995210_98995211delTA	ENSP00000228318:p.Ile332fs					SLC25A3_uc001tfm.2_Frame_Shift_Del_p.F330fs|SLC25A3_uc001tfn.2_Frame_Shift_Del_p.F330fs|SLC25A3_uc001tfp.2_Frame_Shift_Del_p.F330fs|SLC25A3_uc001tfq.2_Frame_Shift_Del_p.F200fs|SLC25A3_uc001tfr.2_Frame_Shift_Del_p.F331fs|SLC25A3_uc001tfs.2_Frame_Shift_Del_p.F287fs|SLC25A3_uc009ztn.2_Frame_Shift_Del_p.F293fs|SLC25A3_uc001tft.2_Frame_Shift_Del_p.F330fs	p.F331fs	NM_005888	NP_005879	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	8	1113_1114	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	331_332			Solcar 3.|Helical; Name=6; (Potential).		B3KS34|Q7Z7N7|Q96A03	Frame_Shift_Del	DEL	ENST00000228318.3	37	c.993_994delTA	CCDS9066.1																																																																																				0.460	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1		NM_005888		81	121	NaN	NaN	NaN	NaN	NaN	81	121	---	---
MIPEP	4285	broad.mit.edu	37	13	24411850	24411850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:24411850delC	ENST00000382172.3	-	13	1482	c.1384delG	c.(1384-1386)gacfs	p.D462fs		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	462					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AGTTGATAGTCTCCATCTTCC	0.393																																						uc001uox.3		NaN																	0				central_nervous_system(1)	1						c.(1384-1386)GACfs		mitochondrial intermediate peptidase precursor							136.0	130.0	132.0					13																	24411850		2203	4300	6503	SO:0001589	frameshift_variant	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24411850delC		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1384delG	13.37:g.24411850delC	ENSP00000371607:p.Asp462fs						p.D462fs	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	13	1484	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	462					Q5JV15|Q5T9Q9|Q96G65	Frame_Shift_Del	DEL	ENST00000382172.3	37	c.1384delG	CCDS9303.1																																																																																				0.393	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1				24	117	NaN	NaN	NaN	NaN	NaN	24	117	---	---
MIPOL1	145282	broad.mit.edu	37	14	37717025	37717051	+	5'UTR	DEL	TTATTTTAGCTGCAAATCTTGGAGCAA	TTATTTTAGCTGCAAATCTTGGAGCAA	-	rs116728484	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:37717025_37717051delTTATTTTAGCTGCAAATCTTGGAGCAA	ENST00000327441.7	+	0	406_424				MIPOL1_ENST00000539062.2_5'UTR|MIPOL1_ENST00000537471.1_5'UTR|MIPOL1_ENST00000396294.2_5'UTR|MIPOL1_ENST00000545536.1_5'UTR|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000556451.1_5'UTR	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1							nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGAGTTGGCTTTATTTTAGCTGCAAATCTTGGAGCAAAAACCAGAGA	0.339																																						uc001wuc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.e4-1		mirror-image polydactyly 1																																				SO:0001623	5_prime_UTR_variant	145282							g.chr14:37717025_37717051delTTATTTTAGCTGCAAATCTTGGAGCAA	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.-43TTATTTTAGCTGCAAATCTTGGAGCAA>-	14.37:g.37717025_37717051delTTATTTTAGCTGCAAATCTTGGAGCAA						MIPOL1_uc010amr.2_Splice_Site|MIPOL1_uc001wub.3_Splice_Site|MIPOL1_uc001wud.2_Splice_Site|MIPOL1_uc010ams.2_Splice_Site|MIPOL1_uc001wue.2_Splice_Site|MIPOL1_uc010amt.2_Intron		NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	4	444	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)							D3DSA4|Q7Z3J0|Q8IV14	Splice_Site	DEL	ENST00000327441.7	37	c.-59_splice	CCDS9664.1																																																																																				0.339	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1		NM_138731		7	26	NaN	NaN	NaN	NaN	NaN	7	26	---	---
GREM1	26585	broad.mit.edu	37	15	33023246	33023247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:33023246_33023247insA	ENST00000300177.4	+	2	544_545	c.355_356insA	c.(355-357)tacfs	p.Y119fs	GREM1_ENST00000560830.1_Frame_Shift_Ins_p.Y78fs|GREM1_ENST00000322805.4_Frame_Shift_Ins_p.Y78fs|GREM1_ENST00000560677.1_3'UTR	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	119	CTCK.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		CCGCTTCTGTTACGGCCAGTGC	0.535																																						uc001zhe.1		NaN																	0					0						c.(355-357)TACfs		gremlin-1 precursor																																				SO:0001589	frameshift_variant	26585				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	g.chr15:33023246_33023247insA		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.356dupA	15.37:g.33023247_33023247dupA	ENSP00000300177:p.Tyr119fs					GREM1_uc001zhd.1_Frame_Shift_Ins_p.Y49fs|GREM1_uc010uby.1_Frame_Shift_Ins_p.Y78fs	p.Y119fs	NM_013372	NP_037504	O60565	GREM1_HUMAN		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)	2	514_515	+		all_lung(180;1.49e-09)	119			CTCK.		Q52LV3|Q8N914|Q8N936	Frame_Shift_Ins	INS	ENST00000300177.4	37	c.355_356insA	CCDS10029.1																																																																																				0.535	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2		NM_013372		43	61	NaN	NaN	NaN	NaN	NaN	43	61	---	---
TRAF4	9618	broad.mit.edu	37	17	27075334	27075357	+	In_Frame_Del	DEL	GCCCGCATGATGCGGCGGCTGCTG	GCCCGCATGATGCGGCGGCTGCTG	-	rs78085629|rs1044066|rs375013541|rs145159053|rs35932778	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:27075334_27075357delGCCCGCATGATGCGGCGGCTGCTG	ENST00000262395.5	+	5	646_669	c.517_540delGCCCGCATGATGCGGCGGCTGCTG	c.(517-540)gcccgcatgatgcggcggctgctgdel	p.ARMMRRLL173del	TRAF4_ENST00000262396.6_Intron|AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000444415.3_In_Frame_Del_p.ARMMRRLL173del	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	173			A -> T (in dbSNP:rs35932778). {ECO:0000269|Ref.4}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TAAGTGTGGTGCCCGCATGATGCGGCGGCTGCTGGCCCAGCATG	0.576																																						uc002hcs.2		NaN																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(517-540)GCCCGCATGATGCGGCGGCTGCTGdel		TNF receptor-associated factor 4																																				SO:0001651	inframe_deletion	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27075334_27075357delGCCCGCATGATGCGGCGGCTGCTG	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.517_540delGCCCGCATGATGCGGCGGCTGCTG	17.37:g.27075334_27075357delGCCCGCATGATGCGGCGGCTGCTG	ENSP00000262395:p.Ala173_Leu180del					TRAF4_uc002hcq.1_Intron	p.ARMMRRLL173del	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		5	625_648	+	Lung NSC(42;0.01)		173_180			TRAF-type 2.		O75615|Q14848|Q2KJU4|Q2PJN8	In_Frame_Del	DEL	ENST00000262395.5	37	c.517_540delGCCCGCATGATGCGGCGGCTGCTG	CCDS11243.1																																																																																				0.576	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2		NM_145751		10	39	NaN	NaN	NaN	NaN	NaN	10	39	---	---
MAPT	4137	broad.mit.edu	37	17	44096051	44096072	+	Frame_Shift_Del	DEL	GTCCCTGGACAATATCACCCAC	GTCCCTGGACAATATCACCCAC	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:44096051_44096072delGTCCCTGGACAATATCACCCAC	ENST00000571987.1	+	12	2016_2037	c.2016_2037delGTCCCTGGACAATATCACCCAC	c.(2014-2037)gggtccctggacaatatcacccacfs	p.GSLDNITH672fs	MAPT_ENST00000420682.2_Frame_Shift_Del_p.GSLDNITH326fs|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000340799.5_Frame_Shift_Del_p.GSLDNITH326fs|MAPT_ENST00000415613.2_Frame_Shift_Del_p.GSLDNITH690fs|MAPT_ENST00000574436.1_Frame_Shift_Del_p.GSLDNITH355fs|MAPT_ENST00000446361.3_Frame_Shift_Del_p.GSLDNITH297fs|MAPT_ENST00000262410.5_Frame_Shift_Del_p.GSLDNITH672fs|MAPT_ENST00000431008.3_Frame_Shift_Del_p.GSLDNITH324fs|MAPT_ENST00000535772.1_Frame_Shift_Del_p.GSLDNITH324fs|MAPT_ENST00000347967.5_Frame_Shift_Del_p.GSLDNITH230fs|MAPT_ENST00000334239.8_Frame_Shift_Del_p.GSLDNITH266fs|MAPT_ENST00000351559.5_Frame_Shift_Del_p.GSLDNITH355fs|MAPT_ENST00000344290.5_Frame_Shift_Del_p.GSLDNITH690fs|MAPT_ENST00000576518.1_Frame_Shift_Del_p.GSLDNITH255fs			P10636	TAU_HUMAN	microtubule-associated protein tau	672					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.H679N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCG	0.5																																						uc002ijr.3		NaN																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2014-2037)GGGTCCCTGGACAATATCACCCACfs		microtubule-associated protein tau isoform 1																																				SO:0001589	frameshift_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44096051_44096072delGTCCCTGGACAATATCACCCAC	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.2016_2037delGTCCCTGGACAATATCACCCAC	17.37:g.44096051_44096072delGTCCCTGGACAATATCACCCAC	ENSP00000458742:p.Gly672fs					MAPT_uc010dau.2_Frame_Shift_Del_p.G690fs|MAPT_uc002ijs.3_Frame_Shift_Del_p.G355fs|MAPT_uc002ijx.3_Frame_Shift_Del_p.G326fs|MAPT_uc002ijt.3_Frame_Shift_Del_p.G297fs|MAPT_uc002iju.3_Frame_Shift_Del_p.G266fs|MAPT_uc002ijv.3_Frame_Shift_Del_p.G273fs	p.G672fs	NM_016835	NP_058519	P10636	TAU_HUMAN			13	2336_2357	+		Melanoma(429;0.216)	672_679			Tau/MAP 4.		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Frame_Shift_Del	DEL	ENST00000571987.1	37	c.2016_2037delGTCCCTGGACAATATCACCCAC	CCDS11501.1																																																																																				0.500	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1		NM_016835		25	116	NaN	NaN	NaN	NaN	NaN	25	116	---	---
WDR45B	56270	broad.mit.edu	37	17	80588887	80588889	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80588887_80588889delCTT	ENST00000392325.4	-	3	346_348	c.152_154delAAG	c.(151-156)gaagga>gga	p.E51del	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	51																	CCAACTCCTCCTTCTAGAAATTC	0.335																																						uc002kfq.2		NaN																	0				ovary(1)	1						c.(151-156)GAAGGA>GGA		WDR45-like																																				SO:0001651	inframe_deletion	56270				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chr17:80588887_80588889delCTT	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.152_154delAAG	17.37:g.80588887_80588889delCTT	ENSP00000376139:p.Glu51del					WDR45L_uc002kfr.2_RNA	p.E51del	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)		3	347_349	-	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	51					O95328|Q2MCP6|Q6IBN2	In_Frame_Del	DEL	ENST00000392325.4	37	c.152_154delAAG	CCDS11815.2																																																																																				0.335	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1		NM_019613		55	181	NaN	NaN	NaN	NaN	NaN	55	181	---	---
RBBP8	5932	broad.mit.edu	37	18	20596832	20596833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:20596832_20596833insC	ENST00000399722.2	+	17	2750_2751	c.2399_2400insC	c.(2398-2403)cggaaafs	p.K801fs	RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000399725.2_Intron|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.K801fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.K806fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	801					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GAGGTGGTTCGGAAAAAAGAGG	0.351								Homologous recombination																														uc002ktw.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(2398-2400)CGGfs	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a																																				SO:0001589	frameshift_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20596832_20596833insC	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	Exception_encountered	18.37:g.20596832_20596833insC	ENSP00000382628:p.Lys801fs					RBBP8_uc002kty.2_Frame_Shift_Ins_p.R800fs|RBBP8_uc002ktz.2_Intron|RBBP8_uc002kua.2_Frame_Shift_Ins_p.R805fs|RBBP8_uc010xap.1_Frame_Shift_Ins_p.R138fs	p.R800fs	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		17	2730_2731	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		800					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Frame_Shift_Ins	INS	ENST00000399722.2	37	c.2399_2400insC	CCDS11875.1																																																																																				0.351	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1		NM_203291		9	35	NaN	NaN	NaN	NaN	NaN	9	35	---	---
CC2D1A	54862	broad.mit.edu	37	19	14037992	14037992	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:14037992delC	ENST00000318003.7	+	22	2471	c.2230delC	c.(2230-2232)ctgfs	p.L744fs	CC2D1A_ENST00000589606.1_Frame_Shift_Del_p.L744fs	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	744	C2.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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 negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACACAGGGGGCTGTTCAAGAC	0.602																																						uc002mxo.2		NaN																	0					0						c.(2230-2232)CTGfs		coiled-coil and C2 domain containing 1A							100.0	112.0	108.0					19																	14037992		2089	4210	6299	SO:0001589	frameshift_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14037992delC	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2230delC	19.37:g.14037992delC	ENSP00000313601:p.Leu744fs					CC2D1A_uc002mxp.2_Frame_Shift_Del_p.L744fs|CC2D1A_uc010dzh.2_Frame_Shift_Del_p.L313fs|CC2D1A_uc002mxq.1_3'UTR	p.L744fs	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		22	2529	+			744			C2.		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Frame_Shift_Del	DEL	ENST00000318003.7	37	c.2230delC	CCDS42512.1																																																																																				0.602	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1		NM_017721		8	125	NaN	NaN	NaN	NaN	NaN	8	125	---	---
FOSL2	2355	broad.mit.edu	37	2	28634949	28634950	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:28634949_28634950insCT	ENST00000264716.4	+	4	1478_1479	c.615_616insCT	c.(616-618)ctgfs	p.L206fs	FOSL2_ENST00000379619.1_Frame_Shift_Ins_p.L198fs|FOSL2_ENST00000545753.1_Frame_Shift_Ins_p.L167fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	206					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L206M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAGCCCCTGGGCTGCAGCCCAT	0.663																																						uc002rma.2		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(2)|breast(1)	3						c.(613-618)GGGCTGfs		FOS-like antigen 2																																				SO:0001589	frameshift_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28634949_28634950insCT		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.616_617dupCT	2.37:g.28634950_28634951dupCT	ENSP00000264716:p.Leu206fs					FOSL2_uc010ymi.1_Frame_Shift_Ins_p.G166fs	p.G205fs	NM_005253	NP_005244	P15408	FOSL2_HUMAN			4	1424_1425	+	Acute lymphoblastic leukemia(172;0.155)		205_206					B2RD58|B3KP27|B4DYV4|Q6FG46	Frame_Shift_Ins	INS	ENST00000264716.4	37	c.615_616insCT	CCDS1766.1																																																																																				0.663	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2		NM_005253		23	93	NaN	NaN	NaN	NaN	NaN	23	93	---	---
POU3F3	5455	broad.mit.edu	37	2	105473173	105473180	+	Frame_Shift_Del	DEL	CGCAGGGC	CGCAGGGC	-	rs140129722		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:105473173_105473180delCGCAGGGC	ENST00000361360.2	+	1	1205_1212	c.1205_1212delCGCAGGGC	c.(1204-1212)gcgcagggcfs	p.AQG402fs	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	402					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAGATCGCGGCGCAGGGCCGCAAGCGCA	0.625																																						uc010ywg.1		NaN																	0				ovary(1)	1						c.(1204-1212)GCGCAGGGCfs		POU class 3 homeobox 3																																				SO:0001589	frameshift_variant	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105473173_105473180delCGCAGGGC		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1205_1212delCGCAGGGC	2.37:g.105473173_105473180delCGCAGGGC	ENSP00000355001:p.Ala402fs						p.A402fs	NM_006236	NP_006227	P20264	PO3F3_HUMAN			1	1205_1212	+			402_404					P78379|Q4ZG25	Frame_Shift_Del	DEL	ENST00000361360.2	37	c.1205_1212delCGCAGGGC	CCDS33265.1																																																																																				0.625	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2				12	26	NaN	NaN	NaN	NaN	NaN	12	26	---	---
NCOA5	57727	broad.mit.edu	37	20	44691177	44691186	+	Frame_Shift_Del	DEL	GGTCTGGGGC	GGTCTGGGGC	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:44691177_44691186delGGTCTGGGGC	ENST00000290231.6	-	8	1657_1666	c.1493_1502delGCCCCAGACC	c.(1492-1503)ggccccagacctfs	p.GPRP498fs		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	498	Transcription activation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGGAGCCCCAGGTCTGGGGCCCATGTTCTG	0.557																																						uc002xrd.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1492-1503)GGCCCCAGACCTfs		nuclear receptor coactivator 5																																				SO:0001589	frameshift_variant	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691177_44691186delGGTCTGGGGC		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1493_1502delGCCCCAGACC	20.37:g.44691177_44691186delGGTCTGGGGC	ENSP00000290231:p.Gly498fs					NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Frame_Shift_Del_p.G498fs	p.G498fs	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN			7	2021_2030	-		Myeloproliferative disorder(115;0.0122)	498_501			Transcription activation.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Frame_Shift_Del	DEL	ENST00000290231.6	37	c.1493_1502delGCCCCAGACC	CCDS13392.1																																																																																				0.557	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1		NM_020967		24	60	NaN	NaN	NaN	NaN	NaN	24	60	---	---
PBRM1	55193	broad.mit.edu	37	3	52584525	52584526	+	Frame_Shift_Del	DEL	CC	CC	-	rs563717316		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:52584525_52584526delCC	ENST00000296302.7	-	29	4809_4810	c.4808_4809delGG	c.(4807-4809)cggfs	p.R1603fs	PBRM1_ENST00000409057.1_Frame_Shift_Del_p.R1548fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.R1511fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.R1496fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.R1566fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.R1523fs|RNU6-856P_ENST00000516959.1_RNA|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.R1496fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.R1516fs			Q86U86	PB1_HUMAN	polybromo 1	1603					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTGAAGAAGCCGCTGGGTCTT	0.545			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NaN		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(4807-4809)CGGfs		polybromo 1 isoform 4																																				SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52584525_52584526delCC	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4808_4809delGG	3.37:g.52584525_52584526delCC	ENSP00000296302:p.Arg1603fs					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Frame_Shift_Del_p.R1496fs|PBRM1_uc003der.2_Frame_Shift_Del_p.R1516fs|PBRM1_uc003det.2_Frame_Shift_Del_p.R1511fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.R1566fs|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Frame_Shift_Del_p.R1548fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.R1523fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.R1496fs	p.R1603fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	29	4820_4821	-			1603					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.4808_4809delGG																																																																																					0.545	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165		15	65	NaN	NaN	NaN	NaN	NaN	15	65	---	---
AMOTL2	51421	broad.mit.edu	37	3	134077396	134077397	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:134077396_134077397insT	ENST00000422605.2	-	9	2432_2433	c.2266_2267insA	c.(2266-2268)agafs	p.R756fs	AMOTL2_ENST00000249883.5_Frame_Shift_Ins_p.R757fs|RPL39P5_ENST00000273411.2_RNA|AMOTL2_ENST00000514516.1_Frame_Shift_Ins_p.R814fs|AMOTL2_ENST00000513145.1_Frame_Shift_Ins_p.R754fs			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	756					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGAGGCTGCTCTCTGGCTACTG	0.629											OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003eqf.2		NaN																	0				large_intestine(1)	1						c.(2440-2442)AGAfs		angiomotin like 2																																				SO:0001589	frameshift_variant	51421							g.chr3:134077396_134077397insT	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.2267dupA	3.37:g.134077397_134077397dupT	ENSP00000409999:p.Arg756fs		OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1607	AMOTL2_uc003eqg.1_Frame_Shift_Ins_p.R757fs|AMOTL2_uc003eqh.1_Frame_Shift_Ins_p.R754fs|AMOTL2_uc010htx.1_5'Flank|AMOTL2_uc003eqe.1_Frame_Shift_Ins_p.R382fs	p.R814fs	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN			9	2557_2558	-			756					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Frame_Shift_Ins	INS	ENST00000422605.2	37	c.2440_2441insA																																																																																					0.629	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1		NM_016201		8	44	NaN	NaN	NaN	NaN	NaN	8	44	---	---
GRK4	2868	broad.mit.edu	37	4	3015470	3015470	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:3015470delA	ENST00000398052.4	+	8	999	c.656delA	c.(655-657)caafs	p.Q219fs	GRK4_ENST00000345167.6_Frame_Shift_Del_p.Q187fs|GRK4_ENST00000398051.4_Frame_Shift_Del_p.Q187fs|GRK4_ENST00000504933.1_Frame_Shift_Del_p.Q219fs	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAAAGCTACAAAAAAAAAGA	0.393																																						uc003ggn.1		NaN																	0				lung(1)	1						c.(655-657)CAAfs		G protein-coupled receptor kinase 4 isoform			,,	13,12,4241		0,0,13,6,0,2114					,,	2.9	0.8			136	3,39,8212		0,0,3,19,1,4104	no	codingComplex,codingComplex,codingComplex	GRK4	NM_182982.2,NM_001004057.1,NM_001004056.1	,,	0,0,16,25,1,6218	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5088,0.586,0.5351	,,	,,		16,51,12453				SO:0001589	frameshift_variant	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3015470delA		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.656delA	4.37:g.3015470delA	ENSP00000381129:p.Gln219fs					GRK4_uc003ggo.1_Frame_Shift_Del_p.Q219fs|GRK4_uc003ggp.1_Frame_Shift_Del_p.Q187fs|GRK4_uc003ggq.1_Frame_Shift_Del_p.Q187fs	p.Q219fs	NM_182982	NP_892027	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	8	1111	+			219			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Frame_Shift_Del	DEL	ENST00000398052.4	37	c.656delA	CCDS33946.1																																																																																				0.393	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2		NM_005307		7	371	NaN	NaN	NaN	NaN	NaN	7	371	---	---
COPS4	51138	broad.mit.edu	37	4	83978470	83978477	+	Frame_Shift_Del	DEL	CAATGAGC	CAATGAGC	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:83978470_83978477delCAATGAGC	ENST00000264389.2	+	6	759_766	c.624_631delCAATGAGC	c.(622-633)tacaatgagctcfs	p.NEL209fs	COPS4_ENST00000503682.1_Frame_Shift_Del_p.NEL209fs|COPS4_ENST00000509093.1_Frame_Shift_Del_p.NEL209fs|COPS4_ENST00000511653.1_Frame_Shift_Del_p.NEL209fs	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	209	PCI.				cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CACAAAGGTACAATGAGCTCTCTTACAA	0.365																																						uc003hoa.2		NaN																	0				kidney(1)	1						c.(622-633)TACAATGAGCTCfs		COP9 signalosome subunit 4																																				SO:0001589	frameshift_variant	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83978470_83978477delCAATGAGC	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.624_631delCAATGAGC	4.37:g.83978470_83978477delCAATGAGC	ENSP00000264389:p.Asn209fs					COPS4_uc003hob.2_Frame_Shift_Del_p.Y208fs|COPS4_uc010ijw.2_Frame_Shift_Del_p.Y208fs|COPS4_uc010ijx.2_Frame_Shift_Del_p.Y208fs	p.Y208fs	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN			6	763_770	+		Hepatocellular(203;0.114)	208_211			PCI.		B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Frame_Shift_Del	DEL	ENST00000264389.2	37	c.624_631delCAATGAGC	CCDS3600.1																																																																																				0.365	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1				33	48	NaN	NaN	NaN	NaN	NaN	33	48	---	---
FBN2	2201	broad.mit.edu	37	5	127647056	127647056	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:127647056delA	ENST00000508053.1	-	45	5984	c.5010delT	c.(5008-5010)tttfs	p.F1670fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.F1670fs			P35556	FBN2_HUMAN	fibrillin 2	1670	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGAAGCTCCCAAAAGTGTTGA	0.483																																						uc003kuu.2		NaN																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(5008-5010)TTTfs		fibrillin 2 precursor							85.0	68.0	74.0					5																	127647056		2203	4300	6503	SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127647056delA	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5010delT	5.37:g.127647056delA	ENSP00000424571:p.Phe1670fs						p.F1670fs	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	39	5449	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1670			EGF-like 27; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Del	DEL	ENST00000508053.1	37	c.5010delT	CCDS34222.1																																																																																				0.483	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999		12	44	NaN	NaN	NaN	NaN	NaN	12	44	---	---
PRRC2A	7916	broad.mit.edu	37	6	31602048	31602062	+	In_Frame_Del	DEL	GGGCTCTAAGCCTGA	GGGCTCTAAGCCTGA	-	rs527272482		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:31602048_31602062delGGGCTCTAAGCCTGA	ENST00000376033.2	+	19	4989_5003	c.4755_4769delGGGCTCTAAGCCTGA	c.(4753-4770)ttgggctctaagcctgag>ttg	p.GSKPE1586del	PRRC2A_ENST00000376007.4_In_Frame_Del_p.GSKPE1586del	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1586	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTGGATTCTTGGGCTCTAAGCCTGAGGGCCCAGGC	0.512																																						uc003nvb.3		NaN																	0					0						c.(4753-4770)TTGGGCTCTAAGCCTGAG>TTG		HLA-B associated transcript-2																																				SO:0001651	inframe_deletion	7916					cytoplasm|nucleus	protein binding	g.chr6:31602048_31602062delGGGCTCTAAGCCTGA	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4755_4769delGGGCTCTAAGCCTGA	6.37:g.31602048_31602062delGGGCTCTAAGCCTGA	ENSP00000365201:p.Gly1586_Glu1590del					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_In_Frame_Del_p.GSKPE1586del	p.GSKPE1586del	NM_080686	NP_542417	P48634	PRC2A_HUMAN			19	5004_5018	+			1586_1590			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	In_Frame_Del	DEL	ENST00000376033.2	37	c.4755_4769delGGGCTCTAAGCCTGA	CCDS4708.1																																																																																				0.512	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1		NM_080686		61	509	NaN	NaN	NaN	NaN	NaN	61	509	---	---
LAMA2	3908	broad.mit.edu	37	6	129674397	129674412	+	Frame_Shift_Del	DEL	CCCTGTGACCCTGTCA	CCCTGTGACCCTGTCA	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:129674397_129674412delCCCTGTGACCCTGTCA	ENST00000421865.2	+	32	4661_4676	c.4612_4627delCCCTGTGACCCTGTCA	c.(4612-4629)ccctgtgaccctgtcacafs	p.PCDPVT1538fs		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1538	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTG	0.583																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(4612-4629)CCCTGTGACCCTGTCACAfs		laminin alpha 2 subunit isoform a precursor																																				SO:0001589	frameshift_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129674397_129674412delCCCTGTGACCCTGTCA	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4612_4627delCCCTGTGACCCTGTCA	6.37:g.129674397_129674412delCCCTGTGACCCTGTCA	ENSP00000400365:p.Pro1538fs					LAMA2_uc003qbo.2_Frame_Shift_Del_p.P1538fs	p.P1538fs	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	32	4717_4732	+			1538_1543			Laminin EGF-like 17.		Q14736|Q5VUM2|Q93022	Frame_Shift_Del	DEL	ENST00000421865.2	37	c.4612_4627delCCCTGTGACCCTGTCA	CCDS5138.1																																																																																				0.583	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				23	62	NaN	NaN	NaN	NaN	NaN	23	62	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965470	88965471	+	Frame_Shift_Ins	INS	-	-	ATCC			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:88965470_88965471insATCC	ENST00000333190.4	+	4	3783_3784	c.3174_3175insATCC	c.(3175-3177)atcfs	p.-1059fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B								metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAATTAGTGAAATCCAACCTTT	0.356										HNSCC(36;0.09)																												uc011khi.1		NaN																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3172-3177)GAAATCfs		zinc finger protein 804B																																				SO:0001589	frameshift_variant	219578					intracellular	zinc ion binding	g.chr7:88965470_88965471insATCC	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3175_3178dupATCC	7.37:g.88965471_88965474dupATCC	ENSP00000329638:p.Ile1059fs	HNSCC(36;0.09)					p.E1058fs	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3712_3713	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1058_1059					B2RTV2|Q7Z714|Q96MN7	Frame_Shift_Ins	INS	ENST00000333190.4	37	c.3174_3175insATCC	CCDS5613.1																																																																																				0.356	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2		NM_181646		24	93	NaN	NaN	NaN	NaN	NaN	24	93	---	---
KDM6A	7403	broad.mit.edu	37	X	44969394	44969418	+	Frame_Shift_Del	DEL	AAGATTGTGCACGAAAAACAAGCGG	AAGATTGTGCACGAAAAACAAGCGG	-	rs377465023|rs370298215		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			AAGATTGTGCACGAAAAACAAGCGG	-	AAGATTGTGCACGAAAAACAAGCGG	AAGATTGTGCACGAAAAACAAGCGG		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:44969394_44969418delAAGATTGTGCACGAAAAACAAGCGG	ENST00000377967.4	+	28	4117_4141	c.4076_4100delAAGATTGTGCACGAAAAACAAGCGG	c.(4075-4101)caagattgtgcacgaaaaacaagcggafs	p.QDCARKTSG1359fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.QDCARKTSG1366fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.QDCARKTSG1314fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.QDCARKTSG1280fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1359					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTACATTGCCAAGATTGTGCACGAAAAACAAGCGGAAACTTGGAA	0.364			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(4075-4101)CAAGATTGTGCACGAAAAACAAGCGGAfs		ubiquitously transcribed tetratricopeptide																																				SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969394_44969418delAAGATTGTGCACGAAAAACAAGCGG	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4076_4100delAAGATTGTGCACGAAAAACAAGCGG	X.37:g.44969394_44969418delAAGATTGTGCACGAAAAACAAGCGG	ENSP00000367203:p.Gln1359fs					KDM6A_uc011mkz.1_Frame_Shift_Del_p.Q1411fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.Q1314fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.Q1366fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.Q1063fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.Q998fs	p.Q1359fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN			28	4451_4475	+			1359_1367					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.4076_4100delAAGATTGTGCACGAAAAACAAGCGG	CCDS14265.1																																																																																				0.364	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		24	36	NaN	NaN	NaN	NaN	NaN	24	36	---	---
