#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
SCNN1D	6339	broad.mit.edu	37	1	1222339	1222339	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:1222339G>C	ENST00000338555.2	+	5	1755	c.611G>C	c.(610-612)aGa>aCa	p.R204T	SCNN1D_ENST00000325425.8_Missense_Mutation_p.R270T|SCNN1D_ENST00000379116.5_Missense_Mutation_p.R368T|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R204T			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	204					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)	AGCCGGGTCAGAGTGGGGTTC	0.701																																						uc001adu.1		NaN																	0					0						c.(610-612)AGA>ACA		sodium channel, nonvoltage-gated 1, delta							23.0	29.0	27.0					1																	1222339		2188	4289	6477	SO:0001583	missense	6339							g.chr1:1222339G>C	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.611G>C	1.37:g.1222339G>C	ENSP00000339504:p.Arg204Thr					SCNN1D_uc001adt.1_Missense_Mutation_p.R368T|SCNN1D_uc001adw.2_Missense_Mutation_p.R270T|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.R204T	p.R204T	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)	7	1235	+	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.611G>C		.	.	.	.	.	.	.	.	.	.	G	6.195	0.404213	0.11754	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.69040	-0.37;-0.33;-0.35;-0.33	4.38	-2.06	0.07298	.	1.169620	0.06385	N	0.715996	T	0.56601	0.1996	L	0.45581	1.43	0.09310	N	1	B;P	0.48230	0.242;0.907	B;B	0.37780	0.16;0.258	T	0.55560	-0.8122	10	0.66056	D	0.02	.	10.7776	0.46358	0.4376:0.0:0.5624:0.0	.	204;368	P51172;A6NNF7	SCNND_HUMAN;.	T	235;368;204;270;204	ENSP00000368411:R368T;ENSP00000339504:R204T;ENSP00000321594:R270T;ENSP00000383717:R204T	ENSP00000321594:R270T	R	+	2	0	SCNN1D	1212202	0.000000	0.05858	0.059000	0.19551	0.120000	0.20174	-1.194000	0.03046	-0.473000	0.06871	0.313000	0.20887	AGA		0.701	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2		NM_002978		19	18	0	0	0	0.175082	0	19	18		
PLEKHM2	23207	broad.mit.edu	37	1	16053704	16053704	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:16053704G>A	ENST00000375799.3	+	9	1364	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	PLEKHM2_ENST00000375793.2_Silent_p.P359P|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	379					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)		GAGAGGGGCCGAGCAGCACCA	0.687																																						uc010obo.1		NaN																	0				ovary(1)	1						c.(1135-1137)CCG>CCA		pleckstrin homology domain containing, family M							13.0	17.0	16.0					1																	16053704		2032	4175	6207	SO:0001819	synonymous_variant	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16053704G>A	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.1137G>A	1.37:g.16053704G>A							p.P379P	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	1364	+		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)	379					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	c.1137G>A	CCDS44063.1																																																																																				0.687	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1		NM_015164		6	12	0	0	0	0.217242	0	6	12		
ZC3H12A	80149	broad.mit.edu	37	1	37945897	37945897	+	Silent	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:37945897G>T	ENST00000373087.6	+	3	566	c.450G>T	c.(448-450)ggG>ggT	p.G150G		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGCCATGGGAACAAGGAGG	0.632																																						uc001cbb.3		NaN																	0				ovary(2)	2						c.(448-450)GGG>GGT		zinc finger CCCH-type containing 12A							72.0	66.0	68.0					1																	37945897		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37945897G>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.450G>T	1.37:g.37945897G>T						ZC3H12A_uc001cbc.1_5'UTR	p.G150G	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			3	600	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	150						Silent	SNP	ENST00000373087.6	37	c.450G>T	CCDS417.1																																																																																				0.632	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2		NM_025079		6	41	1	0	2.7689e-08	0.248553	3.11215e-08	6	41		
ZC3H12A	80149	broad.mit.edu	37	1	37945923	37945923	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:37945923G>A	ENST00000373087.6	+	3	592	c.476G>A	c.(475-477)gGc>gAc	p.G159D		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A									p.G159D(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTGCCGGGGCATCCTGCTG	0.637																																						uc001cbb.3		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(2)	2						c.(475-477)GGC>GAC		zinc finger CCCH-type containing 12A							83.0	73.0	76.0					1																	37945923		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37945923G>A		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.476G>A	1.37:g.37945923G>A	ENSP00000362179:p.Gly159Asp					ZC3H12A_uc001cbc.1_5'UTR	p.G159D	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			3	626	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	159						Missense_Mutation	SNP	ENST00000373087.6	37	c.476G>A	CCDS417.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687196	0.88639	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.49720	0.77	4.8	3.86	0.44501	Ribonuclease Zc3h12a-like (1);	0.113355	0.64402	D	0.000013	T	0.76948	0.4059	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84052	0.0370	10	0.62326	D	0.03	-25.777	14.479	0.67567	0.0:0.0:0.8518:0.1482	.	159	Q5D1E8	ZC12A_HUMAN	D	159	ENSP00000362179:G159D	ENSP00000362174:G159D	G	+	2	0	ZC3H12A	37718510	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.358000	0.97109	1.106000	0.41623	0.563000	0.77884	GGC		0.637	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2		NM_025079		8	43	0	0	0	0.047766	0	8	43		
ZC3H12A	80149	broad.mit.edu	37	1	37946006	37946006	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:37946006C>T	ENST00000373087.6	+	3	675	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAGGAGCAGCCTCGGCCCGA	0.627																																						uc001cbb.3		NaN																	0				ovary(2)	2						c.(559-561)CCT>TCT		zinc finger CCCH-type containing 12A							73.0	61.0	65.0					1																	37946006		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37946006C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.559C>T	1.37:g.37946006C>T	ENSP00000362179:p.Pro187Ser					ZC3H12A_uc001cbc.1_5'UTR	p.P187S	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			3	709	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	187						Missense_Mutation	SNP	ENST00000373087.6	37	c.559C>T	CCDS417.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099866	0.56183	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.23950	1.88	4.8	4.8	0.61643	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.21761	0.0524	N	0.17922	0.545	0.80722	D	1	P	0.41597	0.756	P	0.46917	0.531	T	0.01232	-1.1411	10	0.02654	T	1	-11.9597	18.2296	0.89929	0.0:1.0:0.0:0.0	.	187	Q5D1E8	ZC12A_HUMAN	S	187	ENSP00000362179:P187S	ENSP00000362174:P187S	P	+	1	0	ZC3H12A	37718593	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	2.999000	0.49473	2.387000	0.81309	0.563000	0.77884	CCT		0.627	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2		NM_025079		3	29	0	0	0	0.115264	0	3	29		
KDM4A	9682	broad.mit.edu	37	1	44137208	44137208	+	Missense_Mutation	SNP	G	G	C	rs553622883		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:44137208G>C	ENST00000372396.3	+	11	1530	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	466					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CAAATTTGAAGAGCTTAAAAA	0.453																																						uc001cjx.2		NaN																	0				skin(1)	1						c.(1396-1398)GAG>CAG		jumonji domain containing 2A							79.0	79.0	79.0					1																	44137208		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44137208G>C	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1396G>C	1.37:g.44137208G>C	ENSP00000361473:p.Glu466Gln					KDM4A_uc010oki.1_Intron	p.E466Q	NM_014663	NP_055478	O75164	KDM4A_HUMAN			11	1562	+			466					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.1396G>C	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341260	0.60963	.	.	ENSG00000066135	ENST00000372396	T	0.17213	2.29	5.49	5.49	0.81192	.	0.816378	0.11903	N	0.518384	T	0.39064	0.1064	L	0.59436	1.845	0.38165	D	0.939165	D	0.63880	0.993	D	0.72982	0.979	T	0.03922	-1.0992	10	0.16420	T	0.52	-28.5983	17.9234	0.88975	0.0:0.0:1.0:0.0	.	466	O75164	KDM4A_HUMAN	Q	466	ENSP00000361473:E466Q	ENSP00000361473:E466Q	E	+	1	0	KDM4A	43909795	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.190000	0.72057	2.733000	0.93635	0.655000	0.94253	GAG		0.453	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1		NM_014663		5	76	0	0	0	0.038147	0	5	76		
KDM4A	9682	broad.mit.edu	37	1	44137256	44137256	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:44137256G>C	ENST00000372396.3	+	11	1578	c.1444G>C	c.(1444-1446)Gca>Cca	p.A482P		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	482			A -> E (in dbSNP:rs586339). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9734811}.		cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GGAAGAACAAGCAGCAGCTGC	0.448																																						uc001cjx.2		NaN																	0				skin(1)	1						c.(1444-1446)GCA>CCA		jumonji domain containing 2A							96.0	96.0	96.0					1																	44137256		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44137256G>C	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1444G>C	1.37:g.44137256G>C	ENSP00000361473:p.Ala482Pro					KDM4A_uc010oki.1_Intron	p.A482P	NM_014663	NP_055478	O75164	KDM4A_HUMAN			11	1610	+			482					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.1444G>C	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000029	0.54147	.	.	ENSG00000066135	ENST00000372396	T	0.15487	2.42	5.48	5.48	0.80851	.	1.188910	0.05818	N	0.615303	T	0.12092	0.0294	N	0.03608	-0.345	0.21386	N	0.999705	B	0.17268	0.021	B	0.16289	0.015	T	0.33394	-0.9870	10	0.31617	T	0.26	-10.9166	17.9039	0.88913	0.0:0.0:1.0:0.0	.	482	O75164	KDM4A_HUMAN	P	482	ENSP00000361473:A482P	ENSP00000361473:A482P	A	+	1	0	KDM4A	43909843	1.000000	0.71417	0.749000	0.31150	0.843000	0.47879	6.743000	0.74848	2.729000	0.93468	0.650000	0.86243	GCA		0.448	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1		NM_014663		7	95	0	0	0	0.058154	0	7	95		
KDM4A	9682	broad.mit.edu	37	1	44137463	44137463	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:44137463G>C	ENST00000372396.3	+	11	1785	c.1651G>C	c.(1651-1653)Gat>Cat	p.D551H		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	551					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGCCAAAGGGGATGGCAGGGT	0.562																																						uc001cjx.2		NaN																	0				skin(1)	1						c.(1651-1653)GAT>CAT		jumonji domain containing 2A							98.0	101.0	100.0					1																	44137463		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44137463G>C	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1651G>C	1.37:g.44137463G>C	ENSP00000361473:p.Asp551His					KDM4A_uc010oki.1_Intron	p.D551H	NM_014663	NP_055478	O75164	KDM4A_HUMAN			11	1817	+			551					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.1651G>C	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178152	0.78564	.	.	ENSG00000066135	ENST00000372396	T	0.46063	0.88	5.17	5.17	0.71159	.	0.637309	0.17151	N	0.185069	T	0.41442	0.1159	L	0.36672	1.1	0.46499	D	0.999078	B	0.30021	0.265	B	0.38156	0.266	T	0.29088	-1.0023	10	0.48119	T	0.1	-20.8223	15.1125	0.72368	0.0:0.1414:0.8586:0.0	.	551	O75164	KDM4A_HUMAN	H	551	ENSP00000361473:D551H	ENSP00000361473:D551H	D	+	1	0	KDM4A	43910050	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	4.033000	0.57282	2.788000	0.95919	0.650000	0.86243	GAT		0.562	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1		NM_014663		15	114	0	0	0	0.160694	0	15	114		
RPS8	6202	broad.mit.edu	37	1	45242394	45242394	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:45242394G>A	ENST00000396651.3	+	3	319	c.159G>A	c.(157-159)aaG>aaA	p.K53K	SNORD38B_ENST00000384690.1_RNA|SNORD46_ENST00000364043.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA|RPS8_ENST00000372209.3_Intron|SNORD38A_ENST00000365161.1_RNA|RPS8_ENST00000485390.1_3'UTR|SNORD55_ENST00000581525.1_RNA			P62241	RS8_HUMAN	ribosomal protein S8	53					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					GAGGTAACAAGAAATACCGTG	0.562																																						uc001cmi.2		NaN																	0				ovary(1)	1						c.(157-159)AAG>AAA		ribosomal protein S8							73.0	63.0	67.0					1																	45242394		2203	4300	6503	SO:0001819	synonymous_variant	6202				endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr1:45242394G>A	BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"""S ribosomal proteins"""	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.159G>A	1.37:g.45242394G>A						SNORD38A_uc009vxi.2_5'Flank|SNORD38B_uc001cml.2_5'Flank	p.K53K	NM_001012	NP_001003	P62241	RS8_HUMAN			3	182	+	Acute lymphoblastic leukemia(166;0.155)		53					P09058|Q6IRL7	Silent	SNP	ENST00000396651.3	37	c.159G>A	CCDS513.1																																																																																				0.562	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023439.1		NM_001012		10	39	0	0	0	0.058154	0	10	39		
STIL	6491	broad.mit.edu	37	1	47725990	47725990	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:47725990C>G	ENST00000360380.3	-	17	3411	c.3048G>C	c.(3046-3048)aaG>aaC	p.K1016N	STIL_ENST00000337817.5_Missense_Mutation_p.K1016N|STIL_ENST00000371877.3_Missense_Mutation_p.K1017N|STIL_ENST00000396221.2_Missense_Mutation_p.K999N|STIL_ENST00000243182.6_Missense_Mutation_p.K1016N	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1016					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTGCATTTTTCTTCACTTTAG	0.308																																						uc001crc.1		NaN																	0				lung(2)|skin(1)	3						c.(3046-3048)AAG>AAC		SCL/TAL1 interrupting locus isoform 2							112.0	110.0	111.0					1																	47725990		2203	4299	6502	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47725990C>G	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3048G>C	1.37:g.47725990C>G	ENSP00000353544:p.Lys1016Asn					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.K970N|STIL_uc010omo.1_Missense_Mutation_p.K999N|STIL_uc001crd.1_Missense_Mutation_p.K1017N|STIL_uc001cre.1_Missense_Mutation_p.K1016N|STIL_uc001crf.1_Missense_Mutation_p.K629N|STIL_uc001crg.1_Missense_Mutation_p.K952N	p.K1016N	NM_003035	NP_003026	Q15468	STIL_HUMAN			16	3203	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	1016					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.3048G>C	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.272111	0.40194	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	5.93	2.91	0.33838	.	0.300014	0.42821	N	0.000654	T	0.14227	0.0344	L	0.34521	1.04	0.35337	D	0.786136	B;B;B;B	0.25048	0.117;0.117;0.117;0.117	B;B;B;B	0.22601	0.04;0.04;0.04;0.04	T	0.11567	-1.0582	10	0.46703	T	0.11	-9.0483	6.9626	0.24605	0.1395:0.7056:0.0:0.1549	.	999;999;1017;1016	E9PSF2;B7ZLW5;Q15468-2;Q15468	.;.;.;STIL_HUMAN	N	1016;1016;1017;999;1016	ENSP00000353544:K1016N;ENSP00000337367:K1016N;ENSP00000360944:K1017N;ENSP00000379523:K999N;ENSP00000243182:K1016N	ENSP00000243182:K1016N	K	-	3	2	STIL	47498577	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.608000	0.36847	0.749000	0.32854	-0.345000	0.07892	AAG		0.308	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2		NM_003035		41	10	0	0	0	0.246493	0	41	10		
PPFIA4	8497	broad.mit.edu	37	1	203024673	203024673	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:203024673C>A	ENST00000447715.2	+	21	2318	c.1877C>A	c.(1876-1878)tCc>tAc	p.S626Y	PPFIA4_ENST00000414050.2_Missense_Mutation_p.S355Y|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S142Y|PPFIA4_ENST00000367240.2_Missense_Mutation_p.S627Y|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S142Y|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S142Y			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	626					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AAGCGTGGTTCCATCCCCACC	0.652																																						uc001gyz.2		NaN																	0				ovary(4)|skin(1)	5						c.(424-426)TCC>TAC		protein tyrosine phosphatase, receptor type, f							61.0	73.0	69.0					1																	203024673		2146	4249	6395	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203024673C>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.1877C>A	1.37:g.203024673C>A	ENSP00000402576:p.Ser626Tyr					PPFIA4_uc009xaj.2_Missense_Mutation_p.S773Y|PPFIA4_uc010pqf.1_Missense_Mutation_p.S355Y|PPFIA4_uc001gza.2_Missense_Mutation_p.S142Y|PPFIA4_uc001gzb.1_5'Flank	p.S142Y	NM_015053	NP_055868	O75335	LIPA4_HUMAN			3	1018	+			142					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.425C>A		.	.	.	.	.	.	.	.	.	.	c	24.2	4.501212	0.85176	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.89	4.97	0.65823	.	0.156124	0.30011	N	0.010638	T	0.68586	0.3017	M	0.77313	2.365	0.48571	D	0.999677	P;B;D;D	0.59767	0.952;0.118;0.986;0.977	P;B;D;P	0.64042	0.839;0.045;0.921;0.836	T	0.73563	-0.3943	10	0.62326	D	0.03	-4.3074	17.1234	0.86707	0.0:0.8734:0.1266:0.0	.	355;626;142;142	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	Y	627;626;142;355;142	ENSP00000356209:S627Y;ENSP00000402576:S626Y;ENSP00000295706:S142Y;ENSP00000400379:S355Y;ENSP00000272198:S142Y	ENSP00000272198:S142Y	S	+	2	0	PPFIA4	201291296	1.000000	0.71417	0.579000	0.28588	0.888000	0.51559	6.555000	0.73928	1.484000	0.48361	0.558000	0.71614	TCC		0.652	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1		NM_015053		11	33	1	0	0.000673444	0.069234	0.000704526	11	33		
THNSL1	79896	broad.mit.edu	37	10	25314303	25314303	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr10:25314303G>C	ENST00000524413.1	+	3	2498	c.2151G>C	c.(2149-2151)aaG>aaC	p.K717N	THNSL1_ENST00000376356.4_Missense_Mutation_p.K717N			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	717						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AGCAAGAGAAGATGGAGTACC	0.388																																						uc001isi.3		NaN																	0				pancreas(1)	1						c.(2149-2151)AAG>AAC		threonine synthase-like 1	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						86.0	86.0	86.0					10																	25314303		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25314303G>C	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.2151G>C	10.37:g.25314303G>C	ENSP00000434887:p.Lys717Asn					ENKUR_uc001ish.1_Intron	p.K717N	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN			3	2480	+			717					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.2151G>C	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398932	0.25291	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.11712	2.75;2.75	5.71	2.81	0.32909	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.585685	0.16857	N	0.196676	T	0.07999	0.0200	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32877	-0.9890	10	0.25106	T	0.35	-16.4557	1.968	0.03400	0.2832:0.121:0.4568:0.1391	.	717	Q8IYQ7	THNS1_HUMAN	N	717	ENSP00000434887:K717N;ENSP00000365534:K717N	ENSP00000365534:K717N	K	+	3	2	THNSL1	25354309	0.858000	0.29795	0.873000	0.34254	0.857000	0.48899	0.538000	0.23160	0.884000	0.36064	0.561000	0.74099	AAG		0.388	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1		NM_024838		9	40	0	0	0	0.058154	0	9	40		
ZNF365	22891	broad.mit.edu	37	10	64415128	64415128	+	Splice_Site	SNP	C	C	T	rs79964532		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr10:64415128C>T	ENST00000395251.1	+	4	462	c.128C>T	c.(127-129)tCa>tTa	p.S43L	ZNF365_ENST00000410046.3_Intron|AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	43										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCCACAAAGTCAACACATCTA	0.468																																						uc001jmd.1		NaN																	0				ovary(1)|skin(1)	2						c.(127-129)TCA>TTA		zinc finger protein 365 isoform D							60.0	59.0	59.0					10																	64415128		2203	4300	6503	SO:0001630	splice_region_variant	22891							g.chr10:64415128C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.127-1C>T	10.37:g.64415128C>T						ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	p.S43L	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN			4	462	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		43						Missense_Mutation	SNP	ENST00000395251.1	37	c.128C>T	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.006097	0.35415	.	.	ENSG00000138311	ENST00000395251	T	0.54479	0.57	3.81	1.16	0.20824	.	.	.	.	.	T	0.29389	0.0732	N	0.08118	0	0.18873	N	0.999988	B	0.12013	0.005	B	0.10450	0.005	T	0.20438	-1.0275	9	0.54805	T	0.06	.	6.1866	0.20500	0.0:0.6966:0.0:0.3034	.	43	Q70YC4	TALAN_HUMAN	L	43	ENSP00000378672:S43L	ENSP00000378672:S43L	S	+	2	0	ZNF365	64085134	0.007000	0.16637	0.005000	0.12908	0.545000	0.35147	-0.017000	0.12590	0.255000	0.21593	-0.373000	0.07131	TCA		0.468	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1		NM_014951	Missense_Mutation	7	16	0	0	0	0.038147	0	7	16		
PSAP	5660	broad.mit.edu	37	10	73587834	73587834	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr10:73587834G>A	ENST00000394936.3	-	6	804	c.657C>T	c.(655-657)gtC>gtT	p.V219V	PSAP_ENST00000394934.1_Silent_p.V219V			P07602	SAP_HUMAN	prosaposin	219	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCAAGGCCTGGACAAAGGTGG	0.552																																						uc001jsm.2		NaN																	0				ovary(1)	1						c.(655-657)GTC>GTT		prosaposin isoform a preproprotein							165.0	121.0	136.0					10																	73587834		2203	4300	6503	SO:0001819	synonymous_variant	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73587834G>A	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.657C>T	10.37:g.73587834G>A							p.V219V	NM_002778	NP_002769	P07602	SAP_HUMAN			6	761	-			219			Saposin B-type 2.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Silent	SNP	ENST00000394936.3	37	c.657C>T	CCDS7311.1																																																																																				0.552	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1		NM_002778		5	50	0	0	0	0.184627	0	5	50		
TLL2	7093	broad.mit.edu	37	10	98136543	98136543	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr10:98136543C>T	ENST00000357947.3	-	18	2579	c.2354G>A	c.(2353-2355)gGg>gAg	p.G785E		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	785	CUB 4. {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)		CGCCAGGGTCCCCTCCACACT	0.572																																						uc001kml.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2353-2355)GGG>GAG		tolloid-like 2 precursor							63.0	64.0	63.0					10																	98136543		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98136543C>T	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.2354G>A	10.37:g.98136543C>T	ENSP00000350630:p.Gly785Glu						p.G785E	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	18	2580	-		Colorectal(252;0.0846)	785			CUB 4.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.2354G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751438	0.89753	.	.	ENSG00000095587	ENST00000357947	T	0.57752	0.38	4.98	4.98	0.66077	CUB (5);	0.000000	0.45867	D	0.000324	D	0.85548	0.5722	H	0.99659	4.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91977	0.5591	10	0.87932	D	0	.	17.7923	0.88558	0.0:1.0:0.0:0.0	.	785	Q9Y6L7	TLL2_HUMAN	E	785	ENSP00000350630:G785E	ENSP00000350630:G785E	G	-	2	0	TLL2	98126533	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	7.609000	0.82925	2.746000	0.94184	0.655000	0.94253	GGG		0.572	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1				35	15	0	0	0	0.203993	0	35	15		
OR51S1	119692	broad.mit.edu	37	11	4869946	4869946	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:4869946G>A	ENST00000322101.2	-	1	568	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAGGGGCAGATGGAGACCC	0.557																																						uc010qyo.1		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(493-495)CTG>TTG		olfactory receptor, family 51, subfamily S,							102.0	103.0	103.0					11																	4869946		2201	4298	6499	SO:0001819	synonymous_variant	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869946G>A	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.493C>T	11.37:g.4869946G>A							p.L165L	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	493	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	165			Helical; Name=4; (Potential).		B9EGZ1|Q6IFI2	Silent	SNP	ENST00000322101.2	37	c.493C>T	CCDS31362.1																																																																																				0.557	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1		NM_001004758		12	44	0	0	0	0.09319	0	12	44		
MMP26	56547	broad.mit.edu	37	11	5009489	5009489	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:5009489C>T	ENST00000380390.1	+	2	264	c.48C>T	c.(46-48)ttC>ttT	p.F16F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000300762.1_Silent_p.F16F			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	16					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CCTGGTGTTTCGCCGTTCCAG	0.502											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001lzv.2		NaN																	0					0						c.(46-48)TTC>TTT		matrix metalloproteinase 26 preproprotein							284.0	226.0	245.0					11																	5009489		2201	4298	6499	SO:0001819	synonymous_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5009489C>T	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.48C>T	11.37:g.5009489C>T			OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	623		p.F16F	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	66	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	16					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.48C>T	CCDS7752.1																																																																																				0.502	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3		NM_021801		21	31	0	0	0	0.26419	0	21	31		
ABCC8	6833	broad.mit.edu	37	11	17436131	17436131	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:17436131G>A	ENST00000389817.3	-	19	2386	c.2318C>T	c.(2317-2319)tCg>tTg	p.S773L	ABCC8_ENST00000302539.4_Missense_Mutation_p.S774L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	773	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TGGTTTCTGCGAAGCATAGGC	0.547																																						uc001mnc.2		NaN																	0				ovary(1)	1						c.(2317-2319)TCG>TTG		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						119.0	122.0	121.0					11																	17436131		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17436131G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2318C>T	11.37:g.17436131G>A	ENSP00000374467:p.Ser773Leu						p.S773L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	19	2444	-			773			ABC transporter 1.|Cytoplasmic (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.2318C>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032589	0.75504	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.94000	-3.33;-3.33	5.19	5.19	0.71726	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.93455	0.7912	L	0.48260	1.515	0.53688	D	0.99997	P	0.47545	0.897	P	0.52481	0.7	D	0.94062	0.7327	10	0.87932	D	0	.	14.3407	0.66624	0.0:0.1481:0.8519:0.0	.	773	Q09428	ABCC8_HUMAN	L	773;774;777	ENSP00000374467:S773L;ENSP00000303960:S774L	ENSP00000303960:S774L	S	-	2	0	ABCC8	17392707	1.000000	0.71417	0.998000	0.56505	0.635000	0.38103	7.884000	0.87274	2.423000	0.82170	0.563000	0.77884	TCG		0.547	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1		NM_000352		26	37	0	0	0	0.099896	0	26	37		
DTX4	23220	broad.mit.edu	37	11	58962721	58962721	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:58962721G>C	ENST00000227451.3	+	7	1519	c.1415G>C	c.(1414-1416)gGg>gCg	p.G472A	DTX4_ENST00000532982.1_Missense_Mutation_p.G366A	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	472					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)	p.G366V(1)|p.G472V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ACCATTTATGGGGTGAAGACA	0.532																																						uc001nns.2		NaN																	2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(1)	3						c.(1414-1416)GGG>GCG		deltex 4 homolog							76.0	81.0	79.0					11																	58962721		2018	4224	6242	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58962721G>C	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.1415G>C	11.37:g.58962721G>C	ENSP00000227451:p.Gly472Ala					DTX4_uc001nnr.2_Missense_Mutation_p.G366A	p.G472A	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			7	1672	+		all_epithelial(135;0.125)	472					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1415G>C	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879768	0.91740	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.22945	1.93;1.93	5.36	5.36	0.76844	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	H	0.94620	3.56	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.74466	-0.3656	10	0.59425	D	0.04	.	17.8469	0.88732	0.0:0.0:1.0:0.0	.	472	Q9Y2E6	DTX4_HUMAN	A	366;472	ENSP00000434055:G366A;ENSP00000227451:G472A	ENSP00000227451:G472A	G	+	2	0	DTX4	58719297	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.835000	0.99442	2.506000	0.84524	0.655000	0.94253	GGG		0.532	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1		XM_166213		13	35	0	0	0	0.105934	0	13	35		
ANKRD13D	338692	broad.mit.edu	37	11	67068497	67068497	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:67068497G>A	ENST00000447274.2	+	11	2024	c.849G>A	c.(847-849)ccG>ccA	p.P283P	SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000515828.1_Silent_p.P20P|SSH3_ENST00000308298.7_5'Flank|SSH3_ENST00000308127.4_5'Flank|ANKRD13D_ENST00000511455.2_Silent_p.P370P|ANKRD13D_ENST00000308440.6_Silent_p.P283P|ANKRD13D_ENST00000514166.1_Silent_p.P283P			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	283						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AAGAGCACCCGCTCTCCCTGG	0.612																																						uc001okc.1		NaN																	0				ovary(1)	1						c.(847-849)CCG>CCA		ankyrin repeat domain 13 family, member D							133.0	105.0	114.0					11																	67068497		2200	4295	6495	SO:0001819	synonymous_variant	338692							g.chr11:67068497G>A	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.849G>A	11.37:g.67068497G>A						ANKRD13D_uc001okd.1_Silent_p.P370P|ANKRD13D_uc001oke.1_Silent_p.P283P|ANKRD13D_uc001okg.1_Silent_p.P66P|ANKRD13D_uc001okh.1_Silent_p.P66P|ANKRD13D_uc001oki.1_Silent_p.P20P|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank	p.P283P	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		12	1360	+			283					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Silent	SNP	ENST00000447274.2	37	c.849G>A																																																																																					0.612	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2		NM_207354		15	46	0	0	0	0.11911	0	15	46		
FAT3	120114	broad.mit.edu	37	11	92088561	92088561	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:92088561G>A	ENST00000298047.6	+	1	3300	c.3283G>A	c.(3283-3285)Gac>Aac	p.D1095N	FAT3_ENST00000409404.2_Missense_Mutation_p.D1095N|FAT3_ENST00000541502.1_Missense_Mutation_p.D1095N|FAT3_ENST00000525166.1_Missense_Mutation_p.D945N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1095	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGTATAGACGACGAGAGTGG	0.453										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(3283-3285)GAC>AAC		FAT tumor suppressor homolog 3							110.0	106.0	107.0					11																	92088561		2028	4186	6214	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088561G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3283G>A	11.37:g.92088561G>A	ENSP00000298047:p.Asp1095Asn	TCGA Ovarian(4;0.039)					p.D1095N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	3300	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1095			Cadherin 10.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3283G>A		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002663	0.35320	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.56	5.56	0.83823	.	.	.	.	.	T	0.26340	0.0643	N	0.03268	-0.37	0.41303	D	0.987053	P	0.37914	0.611	B	0.29862	0.108	T	0.25082	-1.0142	9	0.45353	T	0.12	.	18.8713	0.92315	0.0:0.0:1.0:0.0	.	1095	Q8TDW7-3	.	N	1095;1095;1095;945	ENSP00000298047:D1095N;ENSP00000387040:D1095N;ENSP00000443786:D1095N;ENSP00000432586:D945N	ENSP00000298047:D1095N	D	+	1	0	FAT3	91728209	1.000000	0.71417	0.980000	0.43619	0.770000	0.43624	7.744000	0.85034	2.777000	0.95525	0.655000	0.94253	GAC		0.453	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		5	24	0	0	0	0.184627	0	5	24		
FOLR4	390243	broad.mit.edu	37	11	94039818	94039818	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:94039818C>T	ENST00000440961.2	+	2	322	c.278C>T	c.(277-279)gCt>gTt	p.A93V		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	93					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TTCATCCAGGCTATCTGCTTC	0.567																																						uc010rud.1		NaN																	0				ovary(1)	1						c.(277-279)GCT>GTT		folate receptor 4 (delta) homolog							102.0	102.0	102.0					11																	94039818		2051	4213	6264	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94039818C>T			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.278C>T	11.37:g.94039818C>T	ENSP00000416935:p.Ala93Val						p.A93V	NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN			2	278	+			93						Missense_Mutation	SNP	ENST00000440961.2	37	c.278C>T		.	.	.	.	.	.	.	.	.	.	C	16.80	3.221824	0.58560	.	.	ENSG00000183560	ENST00000440961	T	0.76316	-1.01	4.75	3.84	0.44239	.	0.109289	0.64402	D	0.000015	T	0.60663	0.2286	N	0.25890	0.77	0.31453	N	0.670512	B	0.27140	0.169	B	0.27796	0.083	T	0.57923	-0.7727	10	0.30854	T	0.27	-6.9401	5.4636	0.16630	0.2002:0.7:0.0:0.0997	.	93	A6ND01-2	.	V	93	ENSP00000416935:A93V	ENSP00000416935:A93V	A	+	2	0	FOLR4	93679466	1.000000	0.71417	0.962000	0.40283	0.960000	0.62799	5.179000	0.65043	2.635000	0.89317	0.561000	0.74099	GCT		0.567	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1		NM_001080486		18	43	0	0	0	0.160694	0	18	43		
GRIA4	2893	broad.mit.edu	37	11	105795422	105795422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:105795422G>T	ENST00000530497.1	+	11	1774	c.1774G>T	c.(1774-1776)Gag>Tag	p.E592*	GRIA4_ENST00000282499.5_Nonsense_Mutation_p.E592*|GRIA4_ENST00000393127.2_Nonsense_Mutation_p.E592*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.E592*			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	592					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)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GCCTCCCAATGAGTTTGGCAT	0.468																																						uc001pix.2		NaN																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1774-1776)GAG>TAG		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						103.0	86.0	92.0					11																	105795422		2202	4299	6501	SO:0001587	stop_gained	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105795422G>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1774G>T	11.37:g.105795422G>T	ENSP00000435775:p.Glu592*					GRIA4_uc001piw.2_Nonsense_Mutation_p.E592*	p.E592*	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	12	2220	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	592			Cytoplasmic (Potential).		Q86XE8	Nonsense_Mutation	SNP	ENST00000530497.1	37	c.1774G>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	43	10.152256	0.99348	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	.	.	.	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	.	.	.	X	592	.	ENSP00000282499:E592X	E	+	1	0	GRIA4	105300632	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	GAG		0.468	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1				9	15	1	0	1.12685e-05	0.047766	1.19728e-05	9	15		
ZC3H12C	85463	broad.mit.edu	37	11	110035202	110035202	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:110035202G>A	ENST00000278590.3	+	6	1443	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L	ZC3H12C_ENST00000528673.1_Silent_p.L465L|ZC3H12C_ENST00000453089.2_Silent_p.L433L	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	464							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AAGGAGGACTGGTGAAAAGCA	0.512																																						uc009yxw.2		NaN																	0					0						c.(1390-1392)CTG>CTA		zinc finger CCCH-type containing 12C							91.0	91.0	91.0					11																	110035202		1945	4149	6094	SO:0001819	synonymous_variant	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035202G>A		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1392G>A	11.37:g.110035202G>A						ZC3H12C_uc010rwc.1_Silent_p.L465L|ZC3H12C_uc010rwd.1_Silent_p.L465L|ZC3H12C_uc001pkr.3_Silent_p.L433L	p.L464L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	6	1443	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	464					B4DI65|B4DR47	Silent	SNP	ENST00000278590.3	37	c.1392G>A	CCDS44727.1																																																																																				0.512	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1		NM_033390		3	23	0	0	0	0.115264	0	3	23		
KCNA6	3742	broad.mit.edu	37	12	4920041	4920041	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr12:4920041C>T	ENST00000280684.3	+	1	1700	c.834C>T	c.(832-834)ctC>ctT	p.L278L	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.L278L			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	278					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTTTTGAGCTCCTGGTGCGCT	0.557										HNSCC(72;0.22)																												uc001qng.2		NaN																	0				skin(2)|ovary(1)	3						c.(832-834)CTC>CTT		potassium voltage-gated channel, shaker-related							90.0	85.0	86.0					12																	4920041		2203	4300	6503	SO:0001819	synonymous_variant	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920041C>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.834C>T	12.37:g.4920041C>T		HNSCC(72;0.22)					p.L278L	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	1700	+			278			Helical; Name=Segment S2; (Potential).			Silent	SNP	ENST00000280684.3	37	c.834C>T	CCDS8534.1																																																																																				0.557	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1		NM_002235		25	71	0	0	0	0.0918	0	25	71		
KMT2D	8085	broad.mit.edu	37	12	49434618	49434618	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr12:49434618G>A	ENST00000301067.7	-	31	6934	c.6935C>T	c.(6934-6936)tCa>tTa	p.S2312L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2312	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)										GTGGGTGCCTGAGGAGGGTGA	0.617																																						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.(6934-6936)TCA>TTA		myeloid/lymphoid or mixed-lineage leukemia 2							23.0	26.0	25.0					12																	49434618		1852	4094	5946	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.chr12:49434618G>A	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.6935C>T	12.37:g.49434618G>A	ENSP00000301067:p.Ser2312Leu	HNSCC(34;0.089)					p.S2312L	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	6935	-			2312			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6935C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	9.553	1.116455	0.20795	.	.	ENSG00000167548	ENST00000301067	T	0.79940	-1.32	5.07	4.13	0.48395	.	0.279394	0.19474	N	0.113377	T	0.67720	0.2923	N	0.22421	0.69	0.19945	N	0.999947	B	0.13594	0.008	B	0.14578	0.011	T	0.60910	-0.7169	10	0.87932	D	0	.	9.2569	0.37588	0.0:0.1543:0.6872:0.1584	.	2312	O14686	MLL2_HUMAN	L	2312	ENSP00000301067:S2312L	ENSP00000301067:S2312L	S	-	2	0	MLL2	47720885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.197000	0.51028	2.536000	0.85505	0.655000	0.94253	TCA		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				8	22	0	0	0	0.038147	0	8	22		
CPSF6	11052	broad.mit.edu	37	12	69652453	69652453	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr12:69652453C>T	ENST00000435070.2	+	6	888	c.778C>T	c.(778-780)Cct>Tct	p.P260S	CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.P297S|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	260	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TCAGGTTCTGCCTCCTCCTCT	0.577																																						uc001sut.3		NaN																	0					0						c.(778-780)CCT>TCT		cleavage and polyadenylation specific factor 6,							105.0	91.0	96.0					12																	69652453		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69652453C>T	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.778C>T	12.37:g.69652453C>T	ENSP00000391774:p.Pro260Ser					CPSF6_uc001suu.3_Missense_Mutation_p.P297S|CPSF6_uc010stk.1_5'UTR	p.P260S	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		6	888	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		260			Pro-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.778C>T	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463684	0.43736	.	.	ENSG00000111605	ENST00000435070;ENST00000266679	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.75548	-0.3279	8	.	.	.	-7.5663	19.8609	0.96783	0.0:1.0:0.0:0.0	.	297;260	Q16630-2;Q16630	.;CPSF6_HUMAN	S	260;297	.	.	P	+	1	0	CPSF6	67938720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.694000	0.68272	2.771000	0.95319	0.563000	0.77884	CCT		0.577	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1		NM_007007		27	842	0	0	0	0.099896	0	27	842		
UBE2N	7334	broad.mit.edu	37	12	93803827	93803827	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr12:93803827C>T	ENST00000318066.2	-	4	824	c.447G>A	c.(445-447)atG>atA	p.M149I	UBE2N_ENST00000550657.1_3'UTR|UBE2N_ENST00000549833.1_Missense_Mutation_p.M86I|UBE2N_ENST00000548946.1_5'Flank|UBE2N_ENST00000552442.1_Missense_Mutation_p.M102I	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	149					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						AAATATTATTCATGGCATATA	0.348								Direct reversal of damage;Rad6 pathway																													Pancreas(197;738 2228 30225 32034 33454)	uc001tcp.2		NaN																	0					0						c.(445-447)ATG>ATA	Direct_reversal_of_damage|Rad6_pathway	ubiquitin-conjugating enzyme E2N							122.0	112.0	116.0					12																	93803827		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.chr12:93803827C>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.447G>A	12.37:g.93803827C>T	ENSP00000316176:p.Met149Ile						p.M149I	NM_003348	NP_003339	P61088	UBE2N_HUMAN			4	813	-			149					Q16781|Q53Y81	Missense_Mutation	SNP	ENST00000318066.2	37	c.447G>A	CCDS31875.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014967	0.35511	.	.	ENSG00000177889	ENST00000318066;ENST00000549833;ENST00000552442	T;T;T	0.71579	-0.58;-0.58;-0.29	6.17	5.29	0.74685	Ubiquitin-conjugating enzyme/RWD-like (2);	.	.	.	.	T	0.68366	0.2993	L	0.58510	1.815	0.35989	D	0.836572	B	0.02656	0.0	B	0.01281	0.0	T	0.70615	-0.4823	9	0.51188	T	0.08	.	15.4423	0.75195	0.0:0.9341:0.0:0.0659	.	149	P61088	UBE2N_HUMAN	I	149;86;102	ENSP00000316176:M149I;ENSP00000450260:M86I;ENSP00000448352:M102I	ENSP00000316176:M149I	M	-	3	0	UBE2N	92327958	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.267000	0.58877	1.627000	0.50400	0.655000	0.94253	ATG		0.348	UBE2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407710.1		NM_003348		8	14	0	0	0	0.038147	0	8	14		
FBXO21	23014	broad.mit.edu	37	12	117628253	117628253	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr12:117628253C>T	ENST00000330622.5	-	1	8	c.9G>A	c.(7-9)gcG>gcA	p.A3A	FBXO21_ENST00000549689.1_5'Flank|FBXO21_ENST00000427718.2_Silent_p.A3A			O94952	FBX21_HUMAN	F-box protein 21	3					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		cgactgctgccgccgccATCT	0.766																																					GBM(168;452 2038 13535 17701 43680)	uc001twk.2		NaN																	0				kidney(1)	1						c.(7-9)GCG>GCA		F-box only protein 21 isoform 1							3.0	3.0	3.0					12																	117628253		1472	3011	4483	SO:0001819	synonymous_variant	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117628253C>T	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.9G>A	12.37:g.117628253C>T						FBXO21_uc001twj.2_Silent_p.A3A|FBXO21_uc009zwq.2_Silent_p.A3A	p.A3A	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	1	48	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		3					B3KMF0|Q5BJG0|Q9H087	Silent	SNP	ENST00000330622.5	37	c.9G>A	CCDS9184.1																																																																																				0.766	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1		NM_033624		2	2	0	0	0	0.115264	0	2	2		
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr12:122812709C>T	ENST00000540338.1	-	16	3075	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	CLIP1_ENST00000545889.1_Splice_Site_p.E587K|CLIP1_ENST00000358808.2_Splice_Site_p.E1001K|CLIP1_ENST00000537178.1_Splice_Site_p.E966K|CLIP1_ENST00000302528.7_Splice_Site_p.E1001K|CLIP1_ENST00000361654.4_Splice_Site_p.E890K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1012					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)	p.E1001K(1)		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)		ATTTTCTTTTCCTGCAGAGAC	0.493																																						uc001ucg.1		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(2)|breast(1)	3						c.(3034-3036)GAA>AAA		restin isoform a							158.0	159.0	159.0					12																	122812709		2203	4300	6503	SO:0001630	splice_region_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.chr12:122812709C>T		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.3034-1G>A	12.37:g.122812709C>T						CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K	p.E1012K	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)	16	3140	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1012			Potential.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.3034G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008438	0.35415	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.53640	2.7;0.63;0.63;0.61;0.66	5.35	5.35	0.76521	.	0.167889	0.52532	D	0.000067	T	0.30039	0.0752	N	0.21097	0.63	0.45837	D	0.998705	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.19946	0.027;0.004;0.006	T	0.11817	-1.0572	10	0.09843	T	0.71	-11.8769	9.7516	0.40478	0.0:0.8405:0.0:0.1595	.	966;1001;1012	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	K	587;1001;1001;731;43;966;1012	ENSP00000438743:E587K;ENSP00000303585:E1001K;ENSP00000351665:E1001K;ENSP00000445531:E966K;ENSP00000439093:E1012K	ENSP00000303585:E1001K	E	-	1	0	CLIP1	121378662	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.787000	0.47798	2.659000	0.90383	0.655000	0.94253	GAA		0.493	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956	Missense_Mutation	10	68	0	0	0	0.249174	0	10	68		
SPATA13	221178	broad.mit.edu	37	13	24868942	24868942	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr13:24868942G>A	ENST00000382095.4	+	9	1678	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.R927H|SPATA13_ENST00000382108.3_Missense_Mutation_p.R1049H|SPATA13_ENST00000343003.6_Missense_Mutation_p.R368H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R284H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R346H|SPATA13_ENST00000424834.2_Missense_Mutation_p.R1049H	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	424	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R424H(1)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		ATCAACGAGCGCAAGCGCAAG	0.498																																						uc001upg.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	skin(2)|ovary(1)	3						c.(1270-1272)CGC>CAC		spermatogenesis associated 13							136.0	111.0	120.0					13																	24868942		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24868942G>A	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1271G>A	13.37:g.24868942G>A	ENSP00000371527:p.Arg424His					SPATA13_uc001upd.1_Missense_Mutation_p.R1049H|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Missense_Mutation_p.R370H|SPATA13_uc010tcz.1_Missense_Mutation_p.R308H|SPATA13_uc010tda.1_Missense_Mutation_p.R368H|SPATA13_uc001uph.2_Missense_Mutation_p.R346H|SPATA13_uc010tdb.1_Missense_Mutation_p.R284H|SPATA13_uc009zzz.1_Intron|SPATA13_uc001upi.1_5'Flank	p.R424H	NM_153023	NP_694568	Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	9	1678	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	424			DH.		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.1271G>A	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372786	0.95923	.	.	ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.42	5.42	0.78866	Dbl homology (DH) domain (3);	0.000000	0.85682	D	0.000000	D	0.85066	0.5612	M	0.89287	3.02	0.80722	D	1	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	0.91635	0.999;0.996;0.999;0.998;0.998;0.991	D	0.87457	0.2405	10	0.66056	D	0.02	.	18.1945	0.89817	0.0:0.0:1.0:0.0	.	284;368;308;370;346;424	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.;.;.;.;.;SPT13_HUMAN	H	1049;424;322;370;346;284;368	ENSP00000371542:R1049H;ENSP00000371527:R424H;ENSP00000401605:R322H;ENSP00000382830:R346H;ENSP00000386471:R284H;ENSP00000343631:R368H	ENSP00000343631:R368H	R	+	2	0	SPATA13	23766942	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.591000	0.82666	2.558000	0.86282	0.561000	0.74099	CGC		0.498	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2		NM_153023		4	35	0	0	0	0.150653	0	4	35		
RBM26	64062	broad.mit.edu	37	13	79928636	79928636	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr13:79928636G>C	ENST00000438737.2	-	13	2364	c.1924C>G	c.(1924-1926)Cca>Gca	p.P642A	RBM26_ENST00000438724.1_Missense_Mutation_p.P642A|RBM26_ENST00000267229.7_Missense_Mutation_p.P639A			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	642					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GAAGGTACTGGACCCAGCCGC	0.463																																						uc001vkz.2		NaN																	0				ovary(1)	1						c.(1930-1932)CCA>GCA		RNA binding motif protein 26							73.0	72.0	72.0					13																	79928636		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79928636G>C	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1924C>G	13.37:g.79928636G>C	ENSP00000387531:p.Pro642Ala					RBM26_uc001vky.2_Missense_Mutation_p.P639A|RBM26_uc001vla.2_Missense_Mutation_p.P642A|RBM26_uc010tia.1_Missense_Mutation_p.P23A|RBM26_uc001vkx.2_Missense_Mutation_p.P354A	p.P644A	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	13	1944	-		Acute lymphoblastic leukemia(28;0.0279)	642					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.1930C>G		.	.	.	.	.	.	.	.	.	.	G	25.1	4.599759	0.87055	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	D;D	0.93488	-3.23;-3.23	5.62	5.62	0.85841	.	0.051956	0.85682	D	0.000000	D	0.95714	0.8606	L	0.50333	1.59	0.80722	D	1	D;D;P;D	0.89917	1.0;0.967;0.905;0.967	D;P;P;P	0.83275	0.996;0.836;0.543;0.836	D	0.94455	0.7671	9	.	.	.	-12.7265	20.0333	0.97547	0.0:0.0:1.0:0.0	.	23;642;642;639	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	A	639;643;642;642	ENSP00000267229:P639A;ENSP00000390222:P642A	.	P	-	1	0	RBM26	78826637	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.187000	0.77730	2.810000	0.96702	0.585000	0.79938	CCA		0.463	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4		NM_022118		36	9	0	0	0	0.173368	0	36	9		
DCUN1D2	55208	broad.mit.edu	37	13	114138370	114138370	+	Splice_Site	SNP	T	T	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr13:114138370T>C	ENST00000478244.1	-	2	287	c.5A>G	c.(4-6)cAt>cGt	p.H2R	DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000460318.1_5'Flank|DCUN1D2_ENST00000375399.2_Splice_Site_p.H2R	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	2										breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			TTTAAGCTTATGCTTTGGGAT	0.493																																						uc001vtr.1		NaN																	0					0						c.(4-6)CAT>CGT		DCN1, defective in cullin neddylation 1, domain							87.0	78.0	81.0					13																	114138370		2203	4300	6503	SO:0001630	splice_region_variant	55208							g.chr13:114138370T>C	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.4-1A>G	13.37:g.114138370T>C						DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Intron	p.H2R	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		2	44	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	2					Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	c.5A>G	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.848998	0.51164	.	.	ENSG00000150401	ENST00000478244;ENST00000375399	.	.	.	4.79	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	M	0.76838	2.35	0.53005	D	0.999964	B	0.20887	0.049	B	0.19946	0.027	T	0.53676	-0.8405	9	0.23891	T	0.37	.	10.1701	0.42904	0.0:0.0788:0.0:0.9212	.	2	Q6PH85	DCNL2_HUMAN	R	2	.	ENSP00000364548:H2R	H	-	2	0	DCUN1D2	113186371	1.000000	0.71417	0.933000	0.37362	0.252000	0.25951	3.577000	0.53885	0.698000	0.31739	0.533000	0.62120	CAT		0.493	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4		NM_018185	Missense_Mutation	57	13	0	0	0	0.139131	0	57	13		
FBN1	2200	broad.mit.edu	37	15	48905226	48905226	+	Silent	SNP	G	G	T	rs141651917		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:48905226G>T	ENST00000316623.5	-	3	683	c.228C>A	c.(226-228)ggC>ggA	p.G76G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	76					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACTGATTTCCGCCAGGTAAGG	0.393																																						uc001zwx.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(226-228)GGC>GGA		fibrillin 1 precursor							138.0	135.0	136.0					15																	48905226		2197	4296	6493	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48905226G>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.228C>A	15.37:g.48905226G>T							p.G76G	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	3	556	-		all_lung(180;0.00279)	76					B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.228C>A	CCDS32232.1																																																																																				0.393	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1				14	54	1	0	0.00316338	0.132662	0.00321059	14	54		
ATP8B4	79895	broad.mit.edu	37	15	50158634	50158634	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:50158634G>A	ENST00000284509.6	-	26	3216	c.3075C>T	c.(3073-3075)atC>atT	p.I1025I	ATP8B4_ENST00000559829.1_Silent_p.I1025I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1025						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGCTCCCCCAGATGAAGACGT	0.388																																						uc001zxu.2		NaN																	0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(3073-3075)ATC>ATT		ATPase class I type 8B member 4							98.0	93.0	95.0					15																	50158634		2196	4295	6491	SO:0001819	synonymous_variant	79895				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.chr15:50158634G>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3075C>T	15.37:g.50158634G>A						ATP8B4_uc010ber.2_Silent_p.I898I|ATP8B4_uc010ufd.1_Silent_p.I835I|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Silent_p.I28I	p.I1025I	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	26	3217	-		all_lung(180;0.00183)	1025			Helical; (Potential).		Q9H727	Silent	SNP	ENST00000284509.6	37	c.3075C>T	CCDS32238.1																																																																																				0.388	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1		NM_024837		19	44	0	0	0	0.204396	0	19	44		
ATP8B4	79895	broad.mit.edu	37	15	50189507	50189507	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:50189507G>A	ENST00000284509.6	-	23	2820	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	ATP8B4_ENST00000559829.1_Silent_p.F893F	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	893						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGAAACCACAGAAGAAACCAA	0.328																																						uc001zxu.2		NaN																	0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(2677-2679)TTC>TTT		ATPase class I type 8B member 4							85.0	97.0	93.0					15																	50189507		2196	4295	6491	SO:0001819	synonymous_variant	79895				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.chr15:50189507G>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2679C>T	15.37:g.50189507G>A						ATP8B4_uc010ber.2_Silent_p.F766F|ATP8B4_uc010ufd.1_Silent_p.F703F|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Silent_p.F191F	p.F893F	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	23	2821	-		all_lung(180;0.00183)	893			Extracellular (Potential).		Q9H727	Silent	SNP	ENST00000284509.6	37	c.2679C>T	CCDS32238.1																																																																																				0.328	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1		NM_024837		26	81	0	0	0	0.083992	0	26	81		
FAM214A	56204	broad.mit.edu	37	15	52903959	52903959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:52903959G>A	ENST00000261844.7	-	4	369	c.217C>T	c.(217-219)Cga>Tga	p.R73*	FAM214A_ENST00000546305.2_Nonsense_Mutation_p.R80*	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	73																	GACCTAGTTCGTCTGGCTTGG	0.398																																						uc002acg.3		NaN																	0					0						c.(217-219)CGA>TGA		hypothetical protein LOC56204							93.0	86.0	88.0					15																	52903959		1905	4123	6028	SO:0001587	stop_gained	56204							g.chr15:52903959G>A	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.217C>T	15.37:g.52903959G>A	ENSP00000261844:p.Arg73*					KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Translation_Start_Site|KIAA1370_uc010ugf.1_Nonsense_Mutation_p.R80*	p.R73*	NM_019600	NP_062546	Q32MH5	K1370_HUMAN		all cancers(107;0.0803)	4	370	-			73					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Nonsense_Mutation	SNP	ENST00000261844.7	37	c.217C>T	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625268	0.87560	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	.	.	.	5.95	4.01	0.46588	.	0.058299	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3735	0.66857	0.0:0.0:0.5581:0.4419	.	.	.	.	X	73;73;72;80	.	ENSP00000261844:R73X	R	-	1	2	KIAA1370	50691251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.648000	0.46647	0.751000	0.32900	0.650000	0.86243	CGA		0.398	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1		NM_019600		13	43	0	0	0	0.11911	0	13	43		
ZNF280D	54816	broad.mit.edu	37	15	56961028	56961028	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:56961028C>G	ENST00000267807.7	-	14	1754	c.1538G>C	c.(1537-1539)gGa>gCa	p.G513A	ZNF280D_ENST00000559237.1_Missense_Mutation_p.G500A|ZNF280D_ENST00000396245.1_Missense_Mutation_p.G217A|ZNF280D_ENST00000559000.1_Missense_Mutation_p.G500A	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	513					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(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CACTTTTGTTCCAGGAGGCAA	0.318																																						uc002adu.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1537-1539)GGA>GCA		suppressor of hairy wing homolog 4 isoform 1							107.0	100.0	102.0					15																	56961028		2191	4292	6483	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56961028C>G	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1538G>C	15.37:g.56961028C>G	ENSP00000267807:p.Gly513Ala					ZNF280D_uc002adv.2_Missense_Mutation_p.G500A|ZNF280D_uc010bfq.2_Missense_Mutation_p.G513A|ZNF280D_uc002adw.1_Missense_Mutation_p.G541A|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	p.G513A	NM_017661	NP_060131	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	14	1755	-			513					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.1538G>C	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435715	0.62955	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03689	3.84;4.42	5.41	4.47	0.54385	.	1.126010	0.07178	N	0.853554	T	0.20941	0.0504	M	0.75615	2.305	0.46149	D	0.998894	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00012	-1.2428	10	0.87932	D	0	-15.0365	14.3662	0.66807	0.149:0.851:0.0:0.0	.	576;513	B4DHL1;Q6N043	.;Z280D_HUMAN	A	513;500;217	ENSP00000267807:G513A;ENSP00000379545:G217A	ENSP00000267807:G513A	G	-	2	0	ZNF280D	54748320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.474000	0.81024	1.233000	0.43693	0.655000	0.94253	GGA		0.318	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2		XM_370867		7	26	0	0	0	0.038147	0	7	26		
SCAPER	49855	broad.mit.edu	37	15	76994184	76994184	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:76994184A>T	ENST00000563290.1	-	20	2518	c.2423T>A	c.(2422-2424)tTt>tAt	p.F808Y	SCAPER_ENST00000324767.7_Missense_Mutation_p.F808Y|SCAPER_ENST00000538941.2_Missense_Mutation_p.F562Y			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	808						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AACATGGCTAAAAAGATATAC	0.358																																						uc002bby.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2422-2424)TTT>TAT		S-phase cyclin A-associated protein in the ER							74.0	71.0	72.0					15																	76994184		1846	4103	5949	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76994184A>T	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2423T>A	15.37:g.76994184A>T	ENSP00000454973:p.Phe808Tyr					SCAPER_uc010bkr.2_Missense_Mutation_p.F116Y|SCAPER_uc002bbx.2_Missense_Mutation_p.F562Y|SCAPER_uc002bbz.1_Missense_Mutation_p.F679Y|SCAPER_uc002bca.1_Missense_Mutation_p.F673Y	p.F808Y	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			19	2482	-			807			C2H2-type.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.2423T>A	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.825314	0.90955	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.21734	1.99;1.99	5.49	5.49	0.81192	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	L	0.44542	1.39	0.52501	D	0.999959	P;P	0.51653	0.947;0.929	P;P	0.53861	0.736;0.503	T	0.02109	-1.1212	10	0.17832	T	0.49	.	15.5999	0.76616	1.0:0.0:0.0:0.0	.	807;562	Q9BY12;F5H7X8	SCAPE_HUMAN;.	Y	808;562;830	ENSP00000326924:F808Y;ENSP00000442190:F562Y	ENSP00000303560:F830Y	F	-	2	0	SCAPER	74781239	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.722000	0.74735	2.099000	0.63709	0.455000	0.32223	TTT		0.358	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843		13	19	0	0	0	0.11911	0	13	19		
HOMER2	9455	broad.mit.edu	37	15	83532988	83532988	+	Silent	SNP	C	C	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:83532988C>A	ENST00000304231.8	-	4	510	c.318G>T	c.(316-318)gtG>gtT	p.V106V	HOMER2_ENST00000450735.2_Silent_p.V106V|HOMER2_ENST00000399166.2_Silent_p.V106V|HOMER2_ENST00000426485.1_Silent_p.V106V	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	106	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						CAGCTTCTTTCACCTCCTGGA	0.388																																						uc002bjg.2		NaN																	0					0						c.(316-318)GTG>GTT		homer 2 isoform 2							123.0	115.0	118.0					15																	83532988		1848	4102	5950	SO:0001819	synonymous_variant	9455				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr15:83532988C>A	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.318G>T	15.37:g.83532988C>A						HOMER2_uc002bjh.2_Silent_p.V106V|HOMER2_uc002bjj.2_Silent_p.V106V|HOMER2_uc002bji.2_Silent_p.V106V	p.V106V	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN			4	504	-			106			Potential.|WH1.		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Silent	SNP	ENST00000304231.8	37	c.318G>T	CCDS45334.1																																																																																				0.388	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1				6	23	1	0	2.0095e-06	0.248553	2.20397e-06	6	23		
BNC1	646	broad.mit.edu	37	15	83933066	83933066	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:83933066T>C	ENST00000345382.2	-	4	1022	c.937A>G	c.(937-939)Aaa>Gaa	p.K313E	BNC1_ENST00000569704.1_Missense_Mutation_p.K306E|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	313					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|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)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TCTTCTTTTTTAGTAATAGCA	0.438																																						uc002bjt.1		NaN																	0				ovary(3)	3						c.(937-939)AAA>GAA		basonuclin 1							113.0	115.0	114.0					15																	83933066		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83933066T>C	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.937A>G	15.37:g.83933066T>C	ENSP00000307041:p.Lys313Glu					BNC1_uc010uos.1_Missense_Mutation_p.K301E	p.K313E	NM_001717	NP_001708	Q01954	BNC1_HUMAN			4	1025	-			313					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.937A>G	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	T	6.114	0.389339	0.11581	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.42900	0.96	5.23	-1.11	0.09840	.	0.505482	0.23642	N	0.046014	T	0.31295	0.0792	L	0.53249	1.67	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.20338	-1.0278	10	0.27785	T	0.31	-0.3026	8.0672	0.30667	0.0:0.1378:0.4528:0.4094	.	306;313	F5GY04;Q01954	.;BNC1_HUMAN	E	313;306	ENSP00000307041:K313E	ENSP00000307041:K313E	K	-	1	0	BNC1	81724070	1.000000	0.71417	0.002000	0.10522	0.983000	0.72400	2.909000	0.48758	-0.350000	0.08262	0.533000	0.62120	AAA		0.438	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1		NM_001717		12	47	0	0	0	0.09319	0	12	47		
POLR3E	55718	broad.mit.edu	37	16	22320249	22320249	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr16:22320249G>A	ENST00000299853.5	+	5	336	c.169G>A	c.(169-171)Gag>Aag	p.E57K	POLR3E_ENST00000564209.1_Missense_Mutation_p.E57K|POLR3E_ENST00000418581.2_Missense_Mutation_p.E21K|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000359210.4_Missense_Mutation_p.E57K	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	57					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCTCCAGGTAGAGCTTGAGAT	0.627																																						uc002dkk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(169-171)GAG>AAG		RNA polymerase III polypeptide E							96.0	80.0	86.0					16																	22320249		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22320249G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.169G>A	16.37:g.22320249G>A	ENSP00000299853:p.Glu57Lys					POLR3E_uc002dkj.1_Missense_Mutation_p.E57K|POLR3E_uc002dkm.2_Missense_Mutation_p.E21K|POLR3E_uc010vbr.1_Missense_Mutation_p.E57K|POLR3E_uc002dkl.2_Missense_Mutation_p.E57K|POLR3E_uc010vbs.1_Missense_Mutation_p.E21K|POLR3E_uc010vbt.1_Intron	p.E57K	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	5	325	+			57					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.169G>A	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005473	0.74932	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.52295	0.67;0.67;0.67	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.63486	0.2515	L	0.43554	1.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;1.0;0.999	T	0.65319	-0.6197	10	0.87932	D	0	-31.2036	18.1554	0.89689	0.0:0.0:1.0:0.0	.	21;57;57;57;57	B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;RPC5_HUMAN;.	K	57;57;21	ENSP00000299853:E57K;ENSP00000352140:E57K;ENSP00000399254:E21K	ENSP00000299853:E57K	E	+	1	0	POLR3E	22227750	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.381000	0.97205	2.582000	0.87167	0.555000	0.69702	GAG		0.627	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1		NM_018119		13	33	0	0	0	0.09319	0	13	33		
IRX5	10265	broad.mit.edu	37	16	54966775	54966775	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr16:54966775G>A	ENST00000394636.4	+	2	952	c.615G>A	c.(613-615)caG>caA	p.Q205Q	IRX5_ENST00000558597.1_Silent_p.Q139Q|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Silent_p.Q205Q			P78411	IRX5_HUMAN	iroquois homeobox 5	205					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACGAGCCCCAGAAGCCCGAGG	0.592																																						uc002ehv.2		NaN																	0					0						c.(613-615)CAG>CAA		iroquois homeobox protein 5							70.0	87.0	81.0					16																	54966775		2198	4300	6498	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966775G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.615G>A	16.37:g.54966775G>A						IRX5_uc010cca.1_Silent_p.Q257Q|IRX5_uc002ehw.2_Silent_p.Q139Q	p.Q205Q	NM_005853	NP_005844	P78411	IRX5_HUMAN			2	615	+			205					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.615G>A	CCDS10751.1																																																																																				0.592	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2				14	41	0	0	0	0.11911	0	14	41		
ZZEF1	23140	broad.mit.edu	37	17	3974013	3974013	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr17:3974013C>T	ENST00000381638.2	-	26	4164	c.4040G>A	c.(4039-4041)cGc>cAc	p.R1347H		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1347							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						ATCTGGAGTGCGATACACCAG	0.393																																						uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(4039-4041)CGC>CAC		zinc finger, ZZ type with EF hand domain 1							108.0	101.0	104.0					17																	3974013		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3974013C>T	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.4040G>A	17.37:g.3974013C>T	ENSP00000371051:p.Arg1347His					ZZEF1_uc002fxj.1_5'UTR	p.R1347H	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			26	4104	-			1347					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4040G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609171	0.28623	.	.	ENSG00000074755	ENST00000381638	T	0.18657	2.2	6.17	5.16	0.70880	.	0.229665	0.46442	D	0.000293	T	0.12774	0.0310	N	0.24115	0.695	0.37359	D	0.911148	B	0.10296	0.003	B	0.04013	0.001	T	0.11227	-1.0596	10	0.09084	T	0.74	-9.0296	12.0545	0.53527	0.3609:0.6391:0.0:0.0	.	1347	O43149	ZZEF1_HUMAN	H	1347	ENSP00000371051:R1347H	ENSP00000371051:R1347H	R	-	2	0	ZZEF1	3920762	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.650000	0.61440	2.941000	0.99782	0.655000	0.94253	CGC		0.393	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		18	42	0	0	0	0.160694	0	18	42		
CNTROB	116840	broad.mit.edu	37	17	7838454	7838454	+	Silent	SNP	C	C	A	rs201534437		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr17:7838454C>A	ENST00000563694.1	+	4	1510	c.585C>A	c.(583-585)acC>acA	p.T195T	CNTROB_ENST00000380262.3_Silent_p.T195T|CNTROB_ENST00000380255.3_Silent_p.T195T|CNTROB_ENST00000565740.1_Silent_p.T195T	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	195					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CAGAGCATACCCGCCGCAAGG	0.562																																						uc002gjq.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(583-585)ACC>ACA		centrobin, centrosomal BRCA2 interacting protein							60.0	62.0	62.0					17																	7838454		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7838454C>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.585C>A	17.37:g.7838454C>A						CNTROB_uc002gjp.2_Silent_p.T195T|CNTROB_uc002gjr.2_Silent_p.T97T|CNTROB_uc010vum.1_5'Flank	p.T195T	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			5	1504	+		Prostate(122;0.173)	195					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.585C>A	CCDS11126.1																																																																																				0.562	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1		NM_053051		3	19	1	0	0.004672	0.115264	0.00470661	3	19		
ITGA3	3675	broad.mit.edu	37	17	48149456	48149456	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr17:48149456C>T	ENST00000320031.8	+	7	1396	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y	ITGA3_ENST00000007722.7_Missense_Mutation_p.H356Y|ITGA3_ENST00000544892.1_Missense_Mutation_p.H131Y	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	356					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTTCCCTGCTCACCCCTCACT	0.562																																						uc010dbl.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1066-1068)CAC>TAC		integrin alpha 3 isoform a precursor							147.0	116.0	127.0					17																	48149456		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48149456C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.1066C>T	17.37:g.48149456C>T	ENSP00000315190:p.His356Tyr					ITGA3_uc010dbm.2_Missense_Mutation_p.H356Y	p.H356Y	NM_002204	NP_002195	P26006	ITA3_HUMAN			7	1530	+			356			FG-GAP 6.|Extracellular (Potential).		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.1066C>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781390	0.31502	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	T;T;T	0.71817	-0.6;-0.6;-0.6	4.89	2.74	0.32292	.	1.162700	0.05901	N	0.630001	T	0.67979	0.2951	L	0.55213	1.73	0.09310	N	1	B;B	0.33073	0.396;0.32	B;B	0.34652	0.116;0.187	T	0.59532	-0.7437	10	0.62326	D	0.03	.	8.8018	0.34914	0.2881:0.5692:0.1428:0.0	.	356;356	P26006-1;P26006	.;ITA3_HUMAN	Y	131;356;342;356	ENSP00000446133:H131Y;ENSP00000007722:H356Y;ENSP00000315190:H356Y	ENSP00000007722:H356Y	H	+	1	0	ITGA3	45504455	0.000000	0.05858	0.799000	0.32177	0.865000	0.49528	0.531000	0.23052	1.255000	0.44051	0.462000	0.41574	CAC		0.562	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1		NM_005501		19	43	0	0	0	0.189662	0	19	43		
WFIKKN2	124857	broad.mit.edu	37	17	48917902	48917902	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr17:48917902G>A	ENST00000311378.4	+	2	1781	c.1253G>A	c.(1252-1254)gGc>gAc	p.G418D	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.G325D|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	418	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				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)			GTCTATGGTGGCTGCGAGGGC	0.667																																						uc002isv.3		NaN																	0				ovary(2)|skin(1)	3						c.(1252-1254)GGC>GAC		WFIKKN2 protein							46.0	47.0	46.0					17																	48917902		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917902G>A	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.1253G>A	17.37:g.48917902G>A	ENSP00000311184:p.Gly418Asp					WFIKKN2_uc010dbu.2_Missense_Mutation_p.G325D	p.G418D	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1947	+			418			BPTI/Kunitz inhibitor 2.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.1253G>A	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613784	0.87359	.	.	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	T;T	0.69685	-0.42;-0.42	5.34	5.34	0.76211	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94725	0.7904	10	0.87932	D	0	.	19.0581	0.93074	0.0:0.0:1.0:0.0	.	418	Q8TEU8	WFKN2_HUMAN	D	325;418;124	ENSP00000405889:G325D;ENSP00000311184:G418D	ENSP00000311184:G418D	G	+	2	0	WFIKKN2	46272901	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.851000	0.99511	2.494000	0.84150	0.561000	0.74099	GGC		0.667	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1		NM_175575		18	35	0	0	0	0.175082	0	18	35		
CA10	56934	broad.mit.edu	37	17	49710985	49710985	+	Missense_Mutation	SNP	C	C	A	rs149523462		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr17:49710985C>A	ENST00000285273.4	-	9	1927	c.816G>T	c.(814-816)caG>caT	p.Q272H	CA10_ENST00000451037.2_Missense_Mutation_p.Q272H|CA10_ENST00000570565.1_Missense_Mutation_p.Q197H|CA10_ENST00000442502.2_Missense_Mutation_p.Q272H|CA10_ENST00000571918.1_5'Flank|CA10_ENST00000340813.6_Missense_Mutation_p.Q278H	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	272					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	ATGGCTGGTTCTGGCTGAGCA	0.498																																						uc002itw.3		NaN																	0				ovary(1)|skin(1)	2						c.(814-816)CAG>CAT		carbonic anhydrase X		C	HIS/GLN,HIS/GLN,HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	96.0	83.0	88.0		816,816,816	5.4	1.0	17	dbSNP_134	88	0,8600		0,0,4300	no	missense,missense,missense	CA10	NM_001082533.1,NM_001082534.1,NM_020178.4	24,24,24	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	272/329,272/329,272/329	49710985	1,13005	2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49710985C>A	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.816G>T	17.37:g.49710985C>A	ENSP00000285273:p.Gln272His					CA10_uc002itu.3_Missense_Mutation_p.Q201H|CA10_uc002itv.3_Missense_Mutation_p.Q278H|CA10_uc002itx.3_Missense_Mutation_p.Q272H|CA10_uc002ity.3_Missense_Mutation_p.Q272H|CA10_uc002itz.2_Missense_Mutation_p.Q272H	p.Q272H	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		8	1802	-			272					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.816G>T	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358185	0.82243	2.27E-4	0.0	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.44	5.44	0.79542	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	M	0.63169	1.94	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.975	D;D;P	0.91635	0.999;0.999;0.84	T	0.70920	-0.4741	10	0.15066	T	0.55	.	11.6935	0.51529	0.0:0.9196:0.0:0.0804	.	272;278;197	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	H	272;272;272;278	ENSP00000390666:Q272H;ENSP00000285273:Q272H;ENSP00000405388:Q272H;ENSP00000340363:Q278H	ENSP00000285273:Q272H	Q	-	3	2	CA10	47065984	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.048000	0.57390	2.558000	0.86282	0.655000	0.94253	CAG		0.498	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1		NM_020178		15	46	1	0	2.23348e-06	0.146539	2.43003e-06	15	46		
TRIP10	9322	broad.mit.edu	37	19	6750343	6750343	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:6750343G>T	ENST00000313244.9	+	13	1471	c.1436G>T	c.(1435-1437)cGg>cTg	p.R479L	TRIP10_ENST00000600428.1_Missense_Mutation_p.R315L|TRIP10_ENST00000313285.8_Missense_Mutation_p.R423L|TRIP10_ENST00000596758.1_Missense_Mutation_p.R423L|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	479	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.				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						CTTAGCAACCGGGGAGACAGC	0.667																																						uc002mfs.2		NaN																	0				ovary(1)	1						c.(1435-1437)CGG>CTG		thyroid hormone receptor interactor 10							51.0	62.0	58.0					19																	6750343		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.chr19:6750343G>T	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.1436G>T	19.37:g.6750343G>T	ENSP00000320117:p.Arg479Leu					TRIP10_uc010dux.1_Missense_Mutation_p.R423L|TRIP10_uc002mfr.2_Missense_Mutation_p.R423L|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.R242L	p.R479L	NM_004240	NP_004231	Q15642	CIP4_HUMAN			13	1502	+			479			Interaction with CDC42.|Interaction with PDE6G (By similarity).|REM.|Required for interaction with FASLG and localization to lysosomes.		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.1436G>T		.	.	.	.	.	.	.	.	.	.	G	22.5	4.294039	0.81025	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.75938	-0.98;-0.98	5.09	5.09	0.68999	.	0.776318	0.11795	N	0.528746	D	0.82563	0.5064	L	0.46819	1.47	0.48975	D	0.999737	D;D;D	0.89917	1.0;0.995;0.992	D;D;P	0.91635	0.999;0.968;0.841	T	0.79683	-0.1701	10	0.51188	T	0.08	-17.8575	13.9758	0.64273	0.0:0.0:1.0:0.0	.	423;479;423	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	L	423;479;423	ENSP00000320493:R423L;ENSP00000320117:R479L	ENSP00000320117:R479L	R	+	2	0	TRIP10	6701343	0.999000	0.42202	1.000000	0.80357	0.876000	0.50452	2.746000	0.47467	2.385000	0.81259	0.313000	0.20887	CGG		0.667	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2				13	47	1	0	0.00185496	0.105934	0.00192576	13	47		
APLP1	333	broad.mit.edu	37	19	36369487	36369487	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:36369487G>A	ENST00000221891.4	+	14	1773	c.1581G>A	c.(1579-1581)ggG>ggA	p.G527G	APLP1_ENST00000537454.2_Splice_Site_p.G487G|APLP1_ENST00000586861.1_Splice_Site_p.G520G	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	526					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGGGTAGGGTCCACAGAAC	0.488																																						uc002oce.2		NaN																	0				ovary(2)	2						c.(1576-1578)GGG>GGA		amyloid precursor-like protein 1 isoform 2							67.0	62.0	64.0					19																	36369487		2203	4300	6503	SO:0001630	splice_region_variant	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36369487G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1580-1G>A	19.37:g.36369487G>A						APLP1_uc010xsz.1_Silent_p.G487G|APLP1_uc002ocf.2_Silent_p.G527G|APLP1_uc002ocg.2_Silent_p.G430G|APLP1_uc010xta.1_Silent_p.G520G	p.G526G	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		14	1716	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		526			Extracellular (Potential).		O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	c.1578G>A	CCDS32997.1																																																																																				0.488	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1		NM_001024807	Silent	8	28	0	0	0	0.047766	0	8	28		
ACTN4	81	broad.mit.edu	37	19	39191751	39191751	+	Silent	SNP	C	C	T	rs550083317		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:39191751C>T	ENST00000252699.2	+	3	463	c.387C>T	c.(385-387)atC>atT	p.I129I	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	129	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGTCTCCATCGGGGCAGAAG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		19461	0.0		0.0	False		,,,				2504	0.001				Colon(168;199 1940 10254 46213 46384)	uc002oja.1		NaN																	0					0						c.(385-387)ATC>ATT		actinin, alpha 4							68.0	63.0	65.0					19																	39191751		2203	4300	6503	SO:0001819	synonymous_variant	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39191751C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.387C>T	19.37:g.39191751C>T						ACTN4_uc010egc.1_Silent_p.I129I	p.I129I	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	446	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		129			Actin-binding.|CH 1.		A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	c.387C>T	CCDS12518.1																																																																																				0.532	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1				16	30	0	0	0	0.160694	0	16	30		
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		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)			TCGTAAGGGGTGCAGGGGACG	0.627																																						uc002omp.3		NaN																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13117-13119)GCA>GCC		Fc fragment of IgG binding protein precursor							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	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.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13127	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1		NM_003890		7	29	0	0	0	0.146539	0	7	29		
NKPD1	284353	broad.mit.edu	37	19	45656276	45656276	+	Silent	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:45656276G>C	ENST00000438936.2	-	3	964	c.753C>G	c.(751-753)ctC>ctG	p.L251L	NKPD1_ENST00000317951.4_Silent_p.L473L|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_Silent_p.L251L|NKPD1_ENST00000429338.1_Silent_p.L251L			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	251	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TGATGGCGTTGAGCACGCCCA	0.672																																						uc010xxi.1		NaN																	0					0						c.(1417-1419)CTC>CTG		NTPase, KAP family P-loop domain containing 1							12.0	14.0	13.0					19																	45656276		2158	4231	6389	SO:0001819	synonymous_variant	284353							g.chr19:45656276G>C	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.753C>G	19.37:g.45656276G>C							p.L473L	NM_198478	NP_940880				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1419	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	ENST00000438936.2	37	c.1419C>G																																																																																					0.672	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2		NM_198478		3	7	0	0	0	0.115264	0	3	7		
NKPD1	284353	broad.mit.edu	37	19	45656867	45656867	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:45656867G>T	ENST00000438936.2	-	3	373	c.162C>A	c.(160-162)ttC>ttA	p.F54L	NKPD1_ENST00000317951.4_Missense_Mutation_p.F276L|NKPD1_ENST00000589776.1_Missense_Mutation_p.F54L|NKPD1_ENST00000429338.1_Missense_Mutation_p.F54L			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	54	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GGATGAAAAGGAACTGCACGT	0.662																																						uc010xxi.1		NaN																	0					0						c.(826-828)TTC>TTA		NTPase, KAP family P-loop domain containing 1							12.0	15.0	14.0					19																	45656867		2092	4194	6286	SO:0001583	missense	284353							g.chr19:45656867G>T	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.162C>A	19.37:g.45656867G>T	ENSP00000401739:p.Phe54Leu						p.F276L	NM_198478	NP_940880				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	828	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37	c.828C>A		.	.	.	.	.	.	.	.	.	.	G	16.19	3.052327	0.55218	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.33216	1.42;1.42;1.42	5.06	0.498	0.16908	KAP P-loop (1);	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	L	0.59436	1.845	0.32322	N	0.562247	D	0.71674	0.998	D	0.71870	0.975	T	0.51826	-0.8656	10	0.59425	D	0.04	-24.388	8.0966	0.30833	0.4239:0.0:0.5761:0.0	.	54	Q17RQ9	NKPD1_HUMAN	L	276;54;54	ENSP00000321976:F276L;ENSP00000401739:F54L;ENSP00000404706:F54L	ENSP00000321976:F276L	F	-	3	2	NKPD1	50348707	1.000000	0.71417	0.998000	0.56505	0.800000	0.45204	1.579000	0.36536	-0.067000	0.12976	-1.421000	0.01109	TTC		0.662	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2		NM_198478		3	7	1	0	0.00024832	0.150653	0.000261795	3	7		
SAE1	10055	broad.mit.edu	37	19	47646815	47646815	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:47646815C>T	ENST00000270225.7	+	2	231	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F	SAE1_ENST00000413379.3_Missense_Mutation_p.L55F|SAE1_ENST00000598840.1_Missense_Mutation_p.L55F|SAE1_ENST00000392776.3_Missense_Mutation_p.L55F|SAE1_ENST00000540850.1_5'UTR	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	55					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TGCCAAGAATCTCATCTTGGC	0.522																																						uc002pgc.2		NaN																	0				ovary(1)	1						c.(163-165)CTC>TTC		SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;							116.0	104.0	108.0					19																	47646815		2203	4300	6503	SO:0001583	missense	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47646815C>T	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.163C>T	19.37:g.47646815C>T	ENSP00000270225:p.Leu55Phe					SAE1_uc002pgd.2_Missense_Mutation_p.L55F|SAE1_uc010ekx.2_Missense_Mutation_p.L55F|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_5'UTR|SAE1_uc002pge.2_5'UTR	p.L55F	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	2	219	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	55					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	ENST00000270225.7	37	c.163C>T	CCDS12696.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399899	0.83120	.	.	ENSG00000142230	ENST00000413379;ENST00000270225;ENST00000392776;ENST00000414294	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.68	5.68	0.88126	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.91229	0.7236	M	0.89534	3.04	0.80722	D	1	D;D;D	0.67145	0.984;0.996;0.991	P;P;P	0.62813	0.723;0.907;0.902	D	0.92368	0.5903	10	0.87932	D	0	.	11.9707	0.53062	0.0:0.9197:0.0:0.0803	.	55;55;55	G3XAK6;F5GXX7;Q9UBE0	.;.;SAE1_HUMAN	F	55	ENSP00000416557:L55F;ENSP00000270225:L55F;ENSP00000440818:L55F;ENSP00000398818:L55F	ENSP00000270225:L55F	L	+	1	0	SAE1	52338655	0.992000	0.36948	0.997000	0.53966	0.996000	0.88848	2.921000	0.48852	2.691000	0.91804	0.650000	0.86243	CTC		0.522	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1		NM_005500		17	80	0	0	0	0.189662	0	17	80		
CLEC11A	6320	broad.mit.edu	37	19	51228559	51228559	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:51228559C>T	ENST00000250340.4	+	4	1004	c.807C>T	c.(805-807)cgC>cgT	p.R269R	CLEC11A_ENST00000599973.1_Missense_Mutation_p.P286S	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	269	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCTCACCCCGCCCCGAGCTCG	0.726																																						uc002psy.2		NaN																	0				ovary(1)	1						c.(805-807)CGC>CGT		stem cell growth factor precursor							10.0	14.0	13.0					19																	51228559		2179	4249	6428	SO:0001819	synonymous_variant	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51228559C>T	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.807C>T	19.37:g.51228559C>T							p.R269R	NM_002975	NP_002966	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	4	985	+		all_neural(266;0.057)	269			C-type lectin.		B2RAD4	Silent	SNP	ENST00000250340.4	37	c.807C>T	CCDS12800.1																																																																																				0.726	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1		NM_002975		9	7	0	0	0	0.069234	0	9	7		
ZNF615	284370	broad.mit.edu	37	19	52498046	52498046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:52498046G>A	ENST00000602063.1	-	6	632	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	ZNF615_ENST00000594083.1_Nonsense_Mutation_p.Q106*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.Q106*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.Q100*|ZNF615_ENST00000376716.5_Nonsense_Mutation_p.Q95*			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		20	20	0	0	0	0.249174	0	20	20		
VSTM1	284415	broad.mit.edu	37	19	54544246	54544246	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:54544246C>A	ENST00000338372.2	-	9	855	c.680G>T	c.(679-681)gGa>gTa	p.G227V	VSTM1_ENST00000366170.2_Missense_Mutation_p.G139V|VSTM1_ENST00000376626.1_Missense_Mutation_p.G196V|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	227					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TTCATGAGATCCTGGGGGCTC	0.557																																						uc002qcw.3		NaN																	0					0						c.(679-681)GGA>GTA		V-set and transmembrane domain containing 1							63.0	58.0	59.0					19																	54544246		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54544246C>A	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.680G>T	19.37:g.54544246C>A	ENSP00000343366:p.Gly227Val					VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.G196V	p.G227V	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	9	856	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		227					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.680G>T	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	8.976	0.974037	0.18736	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.47528	2.63;6.93;6.53;0.84	2.63	-0.815	0.10843	.	.	.	.	.	T	0.41305	0.1153	N	0.24115	0.695	0.09310	N	1	D;D	0.64830	0.994;0.994	P;P	0.56960	0.81;0.81	T	0.28202	-1.0051	9	0.38643	T	0.18	.	5.2351	0.15443	0.0:0.5372:0.0:0.4628	.	196;227	D2DJS4;Q6UX27	.;VSTM1_HUMAN	V	117;227;196;139	ENSP00000409412:G117V;ENSP00000343366:G227V;ENSP00000365813:G196V;ENSP00000444153:G139V	ENSP00000343366:G227V	G	-	2	0	VSTM1	59236058	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.953000	0.03877	-0.085000	0.12573	0.558000	0.71614	GGA		0.557	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3		NM_198481		15	14	1	0	1.5739e-10	0.146539	1.79874e-10	15	14		
FIZ1	84922	broad.mit.edu	37	19	56104596	56104596	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:56104596G>A	ENST00000221665.3	-	3	800	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	237					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGGGCGCGTTGAAGTCGCGCT	0.781																																						uc002qli.3		NaN																	0					0						c.(709-711)TTC>TTT		FLT3-interacting zinc finger 1							5.0	6.0	5.0					19																	56104596		1132	2263	3395	SO:0001819	synonymous_variant	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56104596G>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.711C>T	19.37:g.56104596G>A						FIZ1_uc002qlj.3_Silent_p.F237F	p.F237F	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	3	801	-			237			C2H2-type 6.		A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	c.711C>T	CCDS12928.1																																																																																				0.781	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1		NM_032836		3	4	0	0	0	0.150653	0	3	4		
TRMT61B	55006	broad.mit.edu	37	2	29073986	29073986	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr2:29073986G>C	ENST00000306108.5	-	5	1287	c.1264C>G	c.(1264-1266)Caa>Gaa	p.Q422E	TRMT61B_ENST00000484060.1_5'Flank	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	422					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						ATTTTCTCTTGAGAATCTAGT	0.363																																						uc002rmm.2		NaN																	0					0						c.(1264-1266)CAA>GAA		tRNA methyltransferase 61 homolog B							118.0	108.0	111.0					2																	29073986		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29073986G>C	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.1264C>G	2.37:g.29073986G>C	ENSP00000302801:p.Gln422Glu					TRMT61B_uc002rmn.2_Missense_Mutation_p.Q422E|TRMT61B_uc010ezk.2_Intron	p.Q422E	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN			5	1296	-			422					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.1264C>G	CCDS1768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.137|1.137	-0.650626|-0.650626	0.03506|0.03506	.|.	.|.	ENSG00000171103|ENSG00000171103	ENST00000306108|ENST00000419999	T|.	0.21191|.	2.02|.	5.61|5.61	0.42|0.42	0.16444|0.16444	.|.	1.170570|.	0.06355|.	N|.	0.710620|.	T|.	0.12263|.	0.0298|.	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B|.	0.15141|.	0.012|.	B|.	0.14578|.	0.011|.	T|.	0.23154|.	-1.0196|.	10|.	0.12430|0.38643	T|T	0.62|0.18	.|.	3.4758|3.4758	0.07583|0.07583	0.1497:0.3664:0.3589:0.125|0.1497:0.3664:0.3589:0.125	.|.	422|.	Q9BVS5|.	TR61B_HUMAN|.	E|X	422|55	ENSP00000302801:Q422E|.	ENSP00000302801:Q422E|ENSP00000405467:S55X	Q|S	-|-	1|2	0|0	TRMT61B|TRMT61B	28927490|28927490	0.975000|0.975000	0.34042|0.34042	0.001000|0.001000	0.08648|0.08648	0.062000|0.062000	0.15995|0.15995	1.510000|1.510000	0.35790|0.35790	-0.203000|-0.203000	0.10251|0.10251	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.363	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1		NM_017910		26	6	0	0	0	0.108266	0	26	6		
PLEKHH2	130271	broad.mit.edu	37	2	43927132	43927132	+	Silent	SNP	A	A	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr2:43927132A>G	ENST00000282406.4	+	8	1145	c.1035A>G	c.(1033-1035)agA>agG	p.R345R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	345					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCATAAAGAGACCAGAACACA	0.428																																						uc010yny.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(1033-1035)AGA>AGG		pleckstrin homology domain containing, family H							64.0	66.0	65.0					2																	43927132		2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43927132A>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1035A>G	2.37:g.43927132A>G						PLEKHH2_uc002rte.3_Silent_p.R345R|PLEKHH2_uc002rtf.3_Silent_p.R344R	p.R345R	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			8	1118	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	345					Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.1035A>G	CCDS1812.1																																																																																				0.428	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069		13	47	0	0	0	0.105934	0	13	47		
ASXL1	171023	broad.mit.edu	37	20	31024350	31024350	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr20:31024350G>A	ENST00000375687.4	+	13	4259	c.3835G>A	c.(3835-3837)Gtg>Atg	p.V1279M	ASXL1_ENST00000306058.5_Missense_Mutation_p.V1274M	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1279					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATCTCCAAATGTGATCTCCTT	0.512			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NaN		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(3835-3837)GTG>ATG		additional sex combs like 1 isoform 1							95.0	87.0	90.0					20																	31024350		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024350G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3835G>A	20.37:g.31024350G>A	ENSP00000364839:p.Val1279Met					ASXL1_uc010geb.2_Missense_Mutation_p.V1170M	p.V1279M	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	4261	+			1279					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3835G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103490	0.37145	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.20332	2.09;2.08	4.56	2.62	0.31277	.	0.906154	0.09678	N	0.770163	T	0.14917	0.0360	L	0.29908	0.895	0.09310	N	1	B;B	0.31077	0.307;0.009	B;B	0.23716	0.048;0.01	T	0.18587	-1.0332	10	0.42905	T	0.14	-0.0155	9.4095	0.38482	0.2367:0.0:0.7633:0.0	.	1274;1279	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	M	1279;1279;1279;1200;1274	ENSP00000364839:V1279M;ENSP00000305119:V1274M	ENSP00000305119:V1274M	V	+	1	0	ASXL1	30488011	0.025000	0.19082	0.021000	0.16686	0.991000	0.79684	1.474000	0.35398	0.867000	0.35654	-0.224000	0.12420	GTG		0.512	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338		36	26	0	0	0	0.173368	0	36	26		
PHF20	51230	broad.mit.edu	37	20	34389477	34389477	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr20:34389477C>T	ENST00000374012.3	+	2	162	c.33C>T	c.(31-33)atC>atT	p.I11I	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Silent_p.I11I			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	11	Tudor 1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GACGAGGAATCAGCTTTGAAG	0.398																																						uc002xek.1		NaN																	0				ovary(1)	1						c.(31-33)ATC>ATT		PHD finger protein 20							71.0	69.0	69.0					20																	34389477		2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34389477C>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.33C>T	20.37:g.34389477C>T						PHF20_uc002xei.1_Silent_p.I11I|PHF20_uc010gfo.1_Silent_p.I11I|PHF20_uc002xej.1_5'UTR|PHF20_uc002xeh.2_RNA	p.I11I	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			2	144	+	Breast(12;0.00631)|all_lung(11;0.0145)		11					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.33C>T	CCDS13268.1																																																																																				0.398	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2		NM_016436		12	36	0	0	0	0.11911	0	12	36		
PCK1	5105	broad.mit.edu	37	20	56137883	56137883	+	Missense_Mutation	SNP	G	G	A	rs367998997		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr20:56137883G>A	ENST00000319441.4	+	4	702	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.V48I	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	180					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGGCACGCCCGTCCTGGAAGC	0.562																																						uc002xyn.3		NaN																	0				skin(1)	1						c.(538-540)GTC>ATC		cytosolic phosphoenolpyruvate carboxykinase 1		G	ILE/VAL	0,4406		0,0,2203	62.0	59.0	60.0		538	4.2	0.8	20		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCK1	NM_002591.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	180/623	56137883	1,13005	2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137883G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.538G>A	20.37:g.56137883G>A	ENSP00000319814:p.Val180Ile					PCK1_uc010zzm.1_Intron	p.V180I	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		4	701	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		180					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.538G>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434726	0.62955	0.0	1.16E-4	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.13089	2.62;2.62	5.13	4.18	0.49190	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.114764	0.64402	N	0.000017	T	0.36826	0.0981	M	0.90425	3.115	0.58432	D	0.999996	B	0.20164	0.042	B	0.43082	0.407	T	0.35871	-0.9771	10	0.56958	D	0.05	-53.4618	13.5639	0.61806	0.075:0.0:0.925:0.0	.	180	P35558	PCKGC_HUMAN	I	180;48	ENSP00000319814:V180I;ENSP00000444342:V48I	ENSP00000319814:V180I	V	+	1	0	PCK1	55571289	1.000000	0.71417	0.814000	0.32528	0.099000	0.18886	5.985000	0.70556	1.290000	0.44636	0.655000	0.94253	GTC		0.562	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2				5	37	0	0	0	0.248553	0	5	37		
MRAP	56246	broad.mit.edu	37	21	33671325	33671325	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr21:33671325G>A	ENST00000399784.2	+	3	230	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	MRAP_ENST00000303645.5_Missense_Mutation_p.E15K|MRAP_ENST00000399786.3_Missense_Mutation_p.E15K|MRAP_ENST00000497833.1_Intron|MRAP_ENST00000339944.4_Missense_Mutation_p.E15K	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	15					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						CTACAGCTATGAATACTACCT	0.597																																						uc002ypj.2		NaN																	0					0						c.(43-45)GAA>AAA		melanocortin 2 receptor accessory protein							125.0	87.0	100.0					21																	33671325		2203	4300	6503	SO:0001583	missense	56246				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr21:33671325G>A	AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.43G>A	21.37:g.33671325G>A	ENSP00000382684:p.Glu15Lys					MRAP_uc002ypk.2_Missense_Mutation_p.E15K|MRAP_uc011ado.1_Intron|MRAP_uc002ypl.2_Missense_Mutation_p.E15K	p.E15K	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN			3	230	+			15			Cytoplasmic (Potential).		Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Missense_Mutation	SNP	ENST00000399784.2	37	c.43G>A	CCDS13613.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000160	0.93227	.	.	ENSG00000170262	ENST00000399784;ENST00000399786;ENST00000303645;ENST00000339944	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000019	D	0.93585	0.7952	L	0.52905	1.665	0.39328	D	0.965368	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.94206	0.7454	10	0.59425	D	0.04	-4.653	14.0803	0.64917	0.0:0.0:1.0:0.0	.	15;15	Q8TCY5-2;Q8TCY5	.;MRAP_HUMAN	K	15	ENSP00000382684:E15K;ENSP00000382686:E15K;ENSP00000306697:E15K;ENSP00000343661:E15K	ENSP00000306697:E15K	E	+	1	0	MRAP	32593196	1.000000	0.71417	0.974000	0.42286	0.973000	0.67179	5.166000	0.64965	2.366000	0.80165	0.655000	0.94253	GAA		0.597	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000193092.1		NM_178817		7	28	0	0	0	0.038147	0	7	28		
DSCAM	1826	broad.mit.edu	37	21	41452089	41452089	+	Silent	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr21:41452089G>T	ENST00000400454.1	-	25	4887	c.4410C>A	c.(4408-4410)acC>acA	p.T1470T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1470	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTTTCCTAAGGTCTTTGCTT	0.428																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(4408-4410)ACC>ACA		Down syndrome cell adhesion molecule isoform							181.0	169.0	173.0					21																	41452089		1873	4114	5987	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41452089G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4410C>A	21.37:g.41452089G>T						DSCAM_uc002yyr.1_RNA	p.T1470T	NM_001389	NP_001380	O60469	DSCAM_HUMAN			25	4862	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1470			Fibronectin type-III 5.|Extracellular (Potential).		O60468	Silent	SNP	ENST00000400454.1	37	c.4410C>A	CCDS42929.1																																																																																				0.428	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		8	92	1	0	0.00307968	0.038147	0.00314915	8	92		
COL18A1	80781	broad.mit.edu	37	21	46875522	46875522	+	Silent	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr21:46875522G>C	ENST00000359759.4	+	1	99	c.78G>C	c.(76-78)ctG>ctC	p.L26L	COL18A1_ENST00000355480.5_Silent_p.L26L|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	26					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCAACCTGCTGAACCTGAACT	0.642																																						uc011afs.1		NaN																	0				central_nervous_system(1)	1						c.(76-78)CTG>CTC		alpha 1 type XVIII collagen isoform 3 precursor							45.0	58.0	53.0					21																	46875522		2093	4208	6301	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46875522G>C		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.78G>C	21.37:g.46875522G>C						COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.L26L	p.L26L	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	1	99	+			26					A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.78G>C																																																																																					0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1				20	92	0	0	0	0.219247	0	20	92		
PCNT	5116	broad.mit.edu	37	21	47847643	47847643	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr21:47847643C>T	ENST00000359568.5	+	34	7535	c.7428C>T	c.(7426-7428)ctC>ctT	p.L2476L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2476					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCCCCGACTCAGTGGCTCAG	0.602																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(7426-7428)CTC>CTT		pericentrin							70.0	74.0	73.0					21																	47847643		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47847643C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7428C>T	21.37:g.47847643C>T						PCNT_uc002zjj.2_Silent_p.L2358L	p.L2476L	NM_006031	NP_006022	O95613	PCNT_HUMAN			34	7535	+	Breast(49;0.112)		2476					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.7428C>T	CCDS33592.1																																																																																				0.602	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		14	71	0	0	0	0.11911	0	14	71		
RBFOX2	23543	broad.mit.edu	37	22	36141976	36141976	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr22:36141976G>A	ENST00000405409.2	-	11	1411	c.1043C>T	c.(1042-1044)gCg>gTg	p.A348V	RBFOX2_ENST00000262829.7_Silent_p.G342G|RBFOX2_ENST00000359369.4_Missense_Mutation_p.A351V|RBFOX2_ENST00000438146.2_Silent_p.G435G|RBFOX2_ENST00000416721.2_Silent_p.G360G|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A351V|RBFOX2_ENST00000397303.2_Silent_p.G341G|RBFOX2_ENST00000449924.2_Silent_p.G364G	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	0	Ala-rich.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						TTACCACAGCGCCAACTCCAT	0.443																																						uc003aon.3		NaN																	0					0						c.(1303-1305)GGC>GGT		RNA binding motif protein 9 isoform 5							190.0	212.0	205.0					22																	36141976		2203	4300	6503	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36141976G>A	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000405409.2:c.1043C>T	22.37:g.36141976G>A	ENSP00000384944:p.Ala348Val					RBM9_uc003aog.3_Silent_p.G341G|RBM9_uc003aol.3_Silent_p.G360G|RBM9_uc003aoj.3_Silent_p.G364G|RBM9_uc003aok.3_Missense_Mutation_p.A348V|RBM9_uc003aoh.3_Missense_Mutation_p.A351V|RBM9_uc003aom.3_Silent_p.G342G|RBM9_uc010gwu.2_Missense_Mutation_p.A351V|RBM9_uc003aoo.3_Silent_p.G434G	p.G435G	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN			13	1417	-			374			Ala-rich.		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Silent	SNP	ENST00000405409.2	37	c.1305C>T	CCDS13921.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367980	0.82463	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000359369	T;T;T	0.41758	1.2;0.99;1.13	5.73	5.73	0.89815	.	.	.	.	.	T	0.36303	0.0962	.	.	.	0.80722	D	1	P;B;P	0.38642	0.509;0.257;0.641	B;B;B	0.34038	0.084;0.045;0.174	T	0.32375	-0.9909	8	0.87932	D	0	.	13.3658	0.60682	0.0:0.0:0.7246:0.2754	.	351;348;351	B0QYY4;O43251-9;O43251-4	.;.;.	V	348;381;351;351	ENSP00000384944:A348V;ENSP00000407855:A351V;ENSP00000352328:A351V	ENSP00000342831:A381V	A	-	2	0	RBFOX2	34471922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.369000	0.44231	2.708000	0.92522	0.555000	0.69702	GCG		0.443	RBFOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318976.3				17	269	0	0	0	0.219247	0	17	269		
CELSR1	9620	broad.mit.edu	37	22	46765614	46765614	+	Missense_Mutation	SNP	G	G	A	rs62226999		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr22:46765614G>A	ENST00000262738.3	-	26	7846	c.7847C>T	c.(7846-7848)gCg>gTg	p.A2616V		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2616					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GATGGGCCCCGCAAAGCTCCA	0.622																																						uc003bhw.1		NaN																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(7846-7848)GCG>GTG		cadherin EGF LAG seven-pass G-type receptor 1							60.0	59.0	59.0					22																	46765614		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46765614G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7847C>T	22.37:g.46765614G>A	ENSP00000262738:p.Ala2616Val					CELSR1_uc011arc.1_Silent_p.C1081C	p.A2616V	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	26	7847	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2616			Helical; Name=5; (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.7847C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890376	0.52014	.	.	ENSG00000075275	ENST00000262738	T	0.33865	1.39	4.3	0.997	0.19851	GPCR, family 2-like (1);	0.079511	0.49305	N	0.000150	T	0.26919	0.0659	L	0.38531	1.155	0.80722	D	1	P	0.45672	0.864	P	0.47102	0.537	T	0.22103	-1.0226	10	0.05525	T	0.97	.	9.4501	0.38721	0.2405:0.0:0.7595:0.0	.	2616	Q9NYQ6	CELR1_HUMAN	V	2616	ENSP00000262738:A2616V	ENSP00000262738:A2616V	A	-	2	0	CELSR1	45144278	1.000000	0.71417	0.892000	0.35008	0.637000	0.38172	4.689000	0.61723	0.063000	0.16370	-0.224000	0.12420	GCG		0.622	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		6	27	0	0	0	0.217242	0	6	27		
ATP2B2	491	broad.mit.edu	37	3	10417249	10417249	+	Silent	SNP	C	C	T	rs113465029		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr3:10417249C>T	ENST00000352432.4	-	10	1350	c.1281G>A	c.(1279-1281)ccG>ccA	p.P427P	ATP2B2_ENST00000397077.1_Silent_p.P382P|ATP2B2_ENST00000383800.4_Silent_p.P382P|ATP2B2_ENST00000360273.2_Silent_p.P427P|ATP2B2_ENST00000343816.4_Silent_p.P413P			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	427					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGGCAGCCACGGCTTCTTGT	0.577																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1279-1281)CCG>CCA		plasma membrane calcium ATPase 2 isoform 1							85.0	72.0	77.0					3																	10417249		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10417249C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1281G>A	3.37:g.10417249C>T						ATP2B2_uc003bvv.2_Silent_p.P382P|ATP2B2_uc003bvw.2_Silent_p.P382P|ATP2B2_uc010hdo.2_Silent_p.P132P	p.P427P	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			11	1720	-			427			Extracellular (Potential).		O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1281G>A	CCDS33701.1																																																																																				0.577	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2		NM_001683		16	43	0	0	0	0.132662	0	16	43		
CNTN3	5067	broad.mit.edu	37	3	74350837	74350837	+	Missense_Mutation	SNP	G	G	C	rs144093273	byFrequency	TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr3:74350837G>C	ENST00000263665.6	-	14	1933	c.1906C>G	c.(1906-1908)Cgg>Ggg	p.R636G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	636	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAAGGTGTCCGAGCCTGGATA	0.433																																						uc003dpm.1		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.(1906-1908)CGG>GGG		contactin 3 precursor							198.0	182.0	187.0					3																	74350837		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350837G>C	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1906C>G	3.37:g.74350837G>C	ENSP00000263665:p.Arg636Gly						p.R636G	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	14	1986	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	636			Fibronectin type-III 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1906C>G	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917352	0.52546	.	.	ENSG00000113805	ENST00000263665	T	0.59224	0.28	5.83	-0.0187	0.13963	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.103397	0.64402	D	0.000005	T	0.79707	0.4492	M	0.93550	3.43	0.36551	D	0.871844	P	0.42296	0.775	P	0.58266	0.836	D	0.88227	0.2901	10	0.87932	D	0	.	17.7342	0.88388	0.0:0.0:0.5966:0.4033	.	636	Q9P232	CNTN3_HUMAN	G	636	ENSP00000263665:R636G	ENSP00000263665:R636G	R	-	1	2	CNTN3	74433527	0.084000	0.21492	0.447000	0.26932	0.988000	0.76386	0.267000	0.18552	0.077000	0.16863	-0.467000	0.05162	CGG		0.433	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1		NM_020872		11	32	0	0	0	0.080935	0	11	32		
GPR156	165829	broad.mit.edu	37	3	119886517	119886517	+	Missense_Mutation	SNP	G	G	A	rs143524747	byFrequency	TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr3:119886517G>A	ENST00000464295.1	-	10	2252	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	GPR156_ENST00000461057.1_Missense_Mutation_p.R599W|GPR156_ENST00000315843.3_Missense_Mutation_p.R603W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	603	Poly-Arg.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.R603W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGAGCTGCCCGCCTTCTCCTC	0.592													G|||	5	0.000998403	0.0	0.0	5008	,	,		18256	0.0		0.005	False		,,,				2504	0.0					uc011bjf.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(1807-1809)CGG>TGG		G protein-coupled receptor 156		G	TRP/ARG,TRP/ARG	6,4400	11.4+/-27.6	0,6,2197	34.0	36.0	35.0		1795,1807	2.2	0.4	3	dbSNP_134	35	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	GPR156	NM_001168271.1,NM_153002.2	101,101	0,16,6487	AA,AG,GG		0.1163,0.1362,0.123	probably-damaging,probably-damaging	599/811,603/815	119886517	16,12990	2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886517G>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1807C>T	3.37:g.119886517G>A	ENSP00000417261:p.Arg603Trp					GPR156_uc011bjg.1_Missense_Mutation_p.R599W	p.R603W	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	9	1807	-			603			Poly-Arg.|Cytoplasmic (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.1807C>T	CCDS2997.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	13.65	2.299061	0.40694	0.001362	0.001163	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.58210	0.35;0.35;0.38	5.07	2.19	0.27852	.	0.100557	0.43416	D	0.000577	T	0.43986	0.1272	L	0.36672	1.1	0.36916	D	0.891145	D;D	0.89917	1.0;1.0	P;P	0.61003	0.882;0.882	T	0.50575	-0.8812	9	.	.	.	-6.335	5.9095	0.19020	0.0732:0.1276:0.6392:0.1599	.	599;603	E9PFZ4;Q8NFN8	.;GP156_HUMAN	W	603;603;599	ENSP00000417261:R603W;ENSP00000324553:R603W;ENSP00000418758:R599W	.	R	-	1	2	GPR156	121369207	0.238000	0.23825	0.390000	0.26220	0.037000	0.13140	1.415000	0.34748	0.271000	0.22005	0.557000	0.71058	CGG		0.592	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1		NM_153002		16	43	0	0	0	0.132662	0	16	43		
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						uc003ejg.2		NaN																	4	Substitution - coding silent(4)		lung(2)|kidney(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(37-39)GGT>GGG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G							p.G13G	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	43	+			36			Sema.|Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.39T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		8	17	0	0	0	0.09319	0	8	17		
UGT2A3	79799	broad.mit.edu	37	4	69811101	69811101	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr4:69811101C>G	ENST00000251566.4	-	2	817	c.787G>C	c.(787-789)Gaa>Caa	p.E263Q	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	263					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGAGGAAATTCAAAATCCCAA	0.373																																						uc003hef.2		NaN																	0				ovary(1)|skin(1)	2						c.(787-789)GAA>CAA		UDP glucuronosyltransferase 2 family,							110.0	100.0	104.0					4																	69811101		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69811101C>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.787G>C	4.37:g.69811101C>G	ENSP00000251566:p.Glu263Gln					UGT2A3_uc010ihp.1_RNA	p.E263Q	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			2	818	-			263			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.787G>C	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066524	0.36470	.	.	ENSG00000135220	ENST00000251566	T	0.63417	-0.04	3.23	-1.41	0.08941	.	0.165187	0.52532	N	0.000065	T	0.54919	0.1888	M	0.70903	2.155	0.80722	D	1	P	0.39424	0.673	B	0.42522	0.39	T	0.43925	-0.9361	10	0.42905	T	0.14	.	3.0351	0.06119	0.1642:0.4096:0.3216:0.1046	.	263	Q6UWM9	UD2A3_HUMAN	Q	263	ENSP00000251566:E263Q	ENSP00000251566:E263Q	E	-	1	0	UGT2A3	69845690	1.000000	0.71417	0.653000	0.29593	0.661000	0.39034	2.612000	0.46343	-0.522000	0.06417	0.484000	0.47621	GAA		0.373	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1		NM_024743		11	37	0	0	0	0.069234	0	11	37		
ANK2	287	broad.mit.edu	37	4	114280167	114280167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr4:114280167G>T	ENST00000357077.4	+	38	10446	c.10393G>T	c.(10393-10395)Gag>Tag	p.E3465*	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E3432*|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3465					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)			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)		AGAAAGTAAGGAGCATTTCTT	0.458																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(10393-10395)GAG>TAG		ankyrin 2 isoform 1							49.0	54.0	52.0					4																	114280167		2201	4300	6501	SO:0001587	stop_gained	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114280167G>T	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.10393G>T	4.37:g.114280167G>T	ENSP00000349588:p.Glu3465*					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Nonsense_Mutation_p.E767*|ANK2_uc011cgb.1_Nonsense_Mutation_p.E3480*	p.E3465*	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10493	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3432					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	c.10393G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	51	17.881865	0.99895	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	.	.	.	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.7237	0.96153	0.0:0.0:1.0:0.0	.	.	.	.	X	3465;3432;475	.	ENSP00000264366:E3432X	E	+	1	0	ANK2	114499616	1.000000	0.71417	0.986000	0.45419	0.828000	0.46876	7.103000	0.77014	2.729000	0.93468	0.650000	0.86243	GAG		0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		14	37	1	0	9.31168e-06	0.105934	9.97156e-06	14	37		
FBXW7	55294	broad.mit.edu	37	4	153244232	153244232	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr4:153244232T>C	ENST00000281708.4	-	12	3154	c.1925A>G	c.(1924-1926)gAt>gGt	p.D642G	FBXW7_ENST00000296555.5_Missense_Mutation_p.D524G|FBXW7_ENST00000263981.5_Missense_Mutation_p.D562G|FBXW7_ENST00000603841.1_Missense_Mutation_p.D642G|FBXW7_ENST00000603548.1_Missense_Mutation_p.D642G|FBXW7_ENST00000393956.3_Missense_Mutation_p.D466G|RP11-461L13.3_ENST00000603766.1_lincRNA	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	642					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)				AGTTCCATCATCTGAGCTGGT	0.428			"""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.(1924-1926)GAT>GGT		F-box and WD repeat domain containing 7 isoform							118.0	114.0	115.0					4																	153244232		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.chr4:153244232T>C	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.1925A>G	4.37:g.153244232T>C	ENSP00000281708:p.Asp642Gly					FBXW7_uc011cii.1_Missense_Mutation_p.D642G|FBXW7_uc003imt.2_Missense_Mutation_p.D642G|FBXW7_uc011cih.1_Missense_Mutation_p.D466G|FBXW7_uc003imq.2_Missense_Mutation_p.D562G|FBXW7_uc003imr.2_Missense_Mutation_p.D524G	p.D642G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			12	2074	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	642			WD 7.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1925A>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127831	0.56721	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	L	0.29908	0.895	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;1.0	T	0.57757	-0.7756	10	0.72032	D	0.01	-20.0521	15.9087	0.79450	0.0:0.0:0.0:1.0	.	466;642;524;562	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	642;524;562;466	ENSP00000281708:D642G;ENSP00000296555:D524G;ENSP00000263981:D562G;ENSP00000377528:D466G	ENSP00000263981:D562G	D	-	2	0	FBXW7	153463682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.008000	0.88588	2.165000	0.68154	0.533000	0.62120	GAT		0.428	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				16	59	0	0	0	0.146539	0	16	59		
DDX4	54514	broad.mit.edu	37	5	55063741	55063741	+	Missense_Mutation	SNP	C	C	T	rs374972771		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:55063741C>T	ENST00000505374.1	+	7	459	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	DDX4_ENST00000354991.5_Missense_Mutation_p.R123W|DDX4_ENST00000514278.2_Intron|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000511853.1_Missense_Mutation_p.R24W|DDX4_ENST00000353507.5_Missense_Mutation_p.R123W|DDX4_ENST00000508580.1_3'UTR	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	123	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TAATCCAACACGGAACAGAGG	0.333																																						uc003jqg.3		NaN																	0				ovary(1)|skin(1)	2						c.(367-369)CGG>TGG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform		C	TRP/ARG,,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	82.0	82.0		367,,70,367	1.3	1.0	5		82	0,8600		0,0,4300	no	missense,intron,missense,missense	DDX4	NM_001142549.1,NM_001166533.1,NM_001166534.1,NM_024415.2	101,,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,,probably-damaging,probably-damaging	123/691,,24/576,123/725	55063741	1,13005	2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55063741C>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.367C>T	5.37:g.55063741C>T	ENSP00000424838:p.Arg123Trp					DDX4_uc010ivz.2_Intron|DDX4_uc003jqh.3_Missense_Mutation_p.R123W|DDX4_uc003jqj.2_Missense_Mutation_p.R24W	p.R123W	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN			7	441	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	123			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.367C>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.408841	0.25378	2.27E-4	0.0	ENSG00000152670	ENST00000353507;ENST00000505374;ENST00000515709;ENST00000514679;ENST00000354991;ENST00000511491;ENST00000511853	T;T;T;T;T;T;T	0.55760	1.89;1.9;0.78;0.78;1.89;0.5;1.85	5.36	1.29	0.21616	.	0.081859	0.46758	D	0.000264	T	0.50154	0.1599	L	0.42245	1.32	0.80722	D	1	B;D;B	0.67145	0.074;0.996;0.014	B;P;B	0.56088	0.009;0.791;0.003	T	0.47381	-0.9122	10	0.56958	D	0.05	-18.9651	3.9287	0.09275	0.3536:0.4659:0.0:0.1805	.	24;123;123	E9PCD8;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	W	123;123;97;123;123;123;24	ENSP00000334167:R123W;ENSP00000424838:R123W;ENSP00000424779:R97W;ENSP00000424112:R123W;ENSP00000347087:R123W;ENSP00000427522:R123W;ENSP00000423123:R24W	ENSP00000334167:R123W	R	+	1	2	DDX4	55099498	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.152000	0.31663	0.395000	0.25257	-0.894000	0.02916	CGG		0.333	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2		NM_024415		11	31	0	0	0	0.11911	0	11	31		
GPR98	84059	broad.mit.edu	37	5	89923175	89923175	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:89923175G>T	ENST00000405460.2	+	7	916	c.820G>T	c.(820-822)Gag>Tag	p.E274*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	274	Calx-beta 3. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTGGTTCCTGAGGAAGACCA	0.383																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(820-822)GAG>TAG		G protein-coupled receptor 98 precursor							130.0	124.0	126.0					5																	89923175		1871	4098	5969	SO:0001587	stop_gained	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89923175G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.820G>T	5.37:g.89923175G>T	ENSP00000384582:p.Glu274*					GPR98_uc003kjt.2_5'UTR	p.E274*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	7	916	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	274			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	c.820G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	38	7.201484	0.98132	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	.	.	.	X	274	.	ENSP00000296619:E274X	E	+	1	0	GPR98	89958931	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	6.977000	0.76141	2.744000	0.94065	0.650000	0.86243	GAG		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		13	67	1	0	1.3612e-06	0.132662	1.50507e-06	13	67		
GPR98	84059	broad.mit.edu	37	5	89923397	89923397	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:89923397G>A	ENST00000405460.2	+	7	1138	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	348	Calx-beta 3. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAAATAGTTGATGACACCAT	0.378																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(1042-1044)GAT>AAT		G protein-coupled receptor 98 precursor							172.0	166.0	168.0					5																	89923397		1890	4104	5994	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89923397G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1042G>A	5.37:g.89923397G>A	ENSP00000384582:p.Asp348Asn					GPR98_uc003kjt.2_5'UTR	p.D348N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	7	1138	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	348			Calx-beta 3.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.1042G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018571	0.93404	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.34275	1.37	5.85	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65146	-0.6239	10	0.62326	D	0.03	.	15.0734	0.72056	0.068:0.0:0.932:0.0	.	348	Q8WXG9	GPR98_HUMAN	N	348	ENSP00000384582:D348N	ENSP00000296619:D348N	D	+	1	0	GPR98	89959153	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	6.514000	0.73746	1.485000	0.48380	0.585000	0.79938	GAT		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		32	97	0	0	0	0.163468	0	32	97		
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:94030836C>A	ENST00000265140.5	+	21	3415	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	999						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348																																						uc003kkr.3		NaN																	0				ovary(2)	2						c.(2995-2997)ACC>AAC		ankyrin repeat domain 32							66.0	67.0	67.0					5																	94030836		2203	4299	6502	SO:0001583	missense	84250							g.chr5:94030836C>A	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2996C>A	5.37:g.94030836C>A	ENSP00000265140:p.Thr999Asn					ANKRD32_uc003kks.2_Missense_Mutation_p.T363N	p.T999N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	21	3076	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	999					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2996C>A	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356986	0.24598	.	.	ENSG00000133302	ENST00000265140	T	0.40476	1.03	5.46	4.54	0.55810	.	0.441905	0.22207	N	0.063146	T	0.27489	0.0675	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.07770	-1.0755	10	0.31617	T	0.26	.	10.5297	0.44969	0.1322:0.6385:0.2293:0.0	.	999	Q9BQI6	ANR32_HUMAN	N	999	ENSP00000265140:T999N	ENSP00000265140:T999N	T	+	2	0	ANKRD32	94056592	0.001000	0.12720	0.978000	0.43139	0.992000	0.81027	1.019000	0.30014	2.579000	0.87056	0.591000	0.81541	ACC		0.348	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1		NM_032290		5	57	1	0	0.00307968	0.038147	0.00314915	5	57		
PCDHA5	56143	broad.mit.edu	37	5	140202795	140202795	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:140202795C>T	ENST00000529859.1	+	1	1435	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R479W|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R479W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCTGCACGGGACGCGGA	0.662																																						uc003lhl.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1435-1437)CGG>TGG		protocadherin alpha 5 isoform 1 precursor							74.0	79.0	77.0					5																	140202795		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202795C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1435C>T	5.37:g.140202795C>T	ENSP00000436557:p.Arg479Trp					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_Missense_Mutation_p.R479W|PCDHA5_uc003lhj.1_Missense_Mutation_p.R479W	p.R479W	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1435	+			479			Extracellular (Potential).|Cadherin 5.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1435C>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	1.786	-0.480692	0.04383	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52983	0.64;0.64;0.64	3.86	-1.6	0.08426	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.30792	0.0776	L	0.39326	1.205	0.09310	N	1	B;B;B	0.22746	0.024;0.074;0.017	B;B;B	0.23275	0.045;0.009;0.008	T	0.24119	-1.0169	9	0.34782	T	0.22	.	1.5823	0.02637	0.1359:0.3272:0.1347:0.4021	.	479;479;479	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	W	479	ENSP00000433416:R479W;ENSP00000436557:R479W;ENSP00000367366:R479W	ENSP00000367366:R479W	R	+	1	2	PCDHA5	140182979	0.000000	0.05858	0.008000	0.14137	0.233000	0.25261	-3.722000	0.00383	-0.377000	0.07930	-0.677000	0.03784	CGG		0.662	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2		NM_018908		28	37	0	0	0	0.125774	0	28	37		
PCDHA9	9752	broad.mit.edu	37	5	140230125	140230125	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:140230125C>T	ENST00000532602.1	+	1	3078	c.2045C>T	c.(2044-2046)gCg>gTg	p.A682V	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A682V|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|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	682					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)			TCGTCGCGGGCGTCAGTGGGT	0.657																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NaN																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(2044-2046)GCG>GTG		protocadherin alpha 9 isoform 1 precursor							47.0	48.0	48.0					5																	140230125		2196	4270	6466	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140230125C>T	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.2045C>T	5.37:g.140230125C>T	ENSP00000436042:p.Ala682Val					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.A682V	p.A682V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2769	+			682			Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.2045C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	0.220	-1.029436	0.02045	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.52526	0.72;0.66	4.3	0.247	0.15521	.	1.366640	0.06128	U	0.670002	T	0.31071	0.0785	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.0;0.007	B;B	0.08055	0.001;0.003	T	0.22730	-1.0208	10	0.39692	T	0.17	.	1.1929	0.01868	0.3103:0.3042:0.2247:0.1608	.	682;682	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	V	682	ENSP00000436042:A682V;ENSP00000367362:A682V	ENSP00000367362:A682V	A	+	2	0	PCDHA9	140210309	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.092000	0.03366	0.032000	0.15435	-0.440000	0.05779	GCG		0.657	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857		19	27	0	0	0	0.175082	0	19	27		
SQSTM1	8878	broad.mit.edu	37	5	179263552	179263552	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:179263552C>T	ENST00000389805.4	+	8	1460	c.1282C>T	c.(1282-1284)Ctg>Ttg	p.L428L	SQSTM1_ENST00000402874.3_Silent_p.L344L|SQSTM1_ENST00000360718.5_Silent_p.L344L|SQSTM1_ENST00000376929.3_Silent_p.L344L|C5orf45_ENST00000403396.2_3'UTR|C5orf45_ENST00000523267.1_5'Flank|SQSTM1_ENST00000510187.1_Silent_p.L344L	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	428	Interaction with NTRK1. {ECO:0000250}.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				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)			CGGAGCGGCTCTGGACACCAT	0.552																																						uc003mkw.3		NaN																SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(1282-1284)CTG>TTG		sequestosome 1 isoform 1							156.0	142.0	147.0					5																	179263552		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:179263552C>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.1282C>T	5.37:g.179263552C>T						SQSTM1_uc011dgr.1_Silent_p.L344L|SQSTM1_uc011dgs.1_Silent_p.L344L|SQSTM1_uc003mkv.3_Silent_p.L344L|SQSTM1_uc003mkx.2_Silent_p.L344L	p.L428L	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1377	+	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)	428			Interaction with NTRK1 (By similarity).|UBA.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Silent	SNP	ENST00000389805.4	37	c.1282C>T	CCDS34317.1																																																																																				0.552	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1				24	60	0	0	0	0.108266	0	24	60		
SLC17A3	10786	broad.mit.edu	37	6	25861865	25861865	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr6:25861865G>T	ENST00000360657.3	-	4	663	c.378C>A	c.(376-378)agC>agA	p.S126R	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S126R|SLC17A3_ENST00000397060.4_Missense_Mutation_p.S204R			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	126					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATAAAGCAATGCTGCAGAGTC	0.418																																						uc003nfi.3		NaN																	0					0						c.(376-378)AGC>AGA		solute carrier family 17 (sodium phosphate),							142.0	126.0	131.0					6																	25861865		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25861865G>T	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.378C>A	6.37:g.25861865G>T	ENSP00000353873:p.Ser126Arg					SLC17A3_uc003nfk.3_Missense_Mutation_p.S204R|SLC17A3_uc011djz.1_Missense_Mutation_p.S204R|SLC17A3_uc011dka.1_Missense_Mutation_p.S126R	p.S126R	NM_006632	NP_006623	O00476	NPT4_HUMAN			4	488	-			126			Helical; (Potential).		B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.378C>A	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	G	6.000	0.368409	0.11352	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.61627	0.09;0.09;0.09	3.6	2.73	0.32206	Major facilitator superfamily domain, general substrate transporter (1);	1.777730	0.03437	N	0.208749	T	0.61060	0.2317	M	0.88979	2.995	0.09310	N	1	P;P;P;P	0.43701	0.815;0.526;0.531;0.571	B;B;P;B	0.50490	0.411;0.285;0.642;0.285	T	0.45848	-0.9233	10	0.87932	D	0	.	7.0247	0.24934	0.1249:0.0:0.8751:0.0	.	126;185;204;126	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	R	204;126;126	ENSP00000380250:S204R;ENSP00000353873:S126R;ENSP00000355307:S126R	ENSP00000353873:S126R	S	-	3	2	SLC17A3	25969844	0.030000	0.19436	0.002000	0.10522	0.126000	0.20510	1.057000	0.30492	1.075000	0.40932	0.563000	0.77884	AGC		0.418	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2				24	56	1	0	1.66031e-10	0.0918	1.88168e-10	24	56		
KHDRBS2	202559	broad.mit.edu	37	6	62757854	62757854	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr6:62757854T>A	ENST00000281156.4	-	3	543	c.265A>T	c.(265-267)Aag>Tag	p.K89*		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	89	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGTAGCCTCTTCAAGGAGTTT	0.353																																						uc003peg.2		NaN																	0				skin(7)|ovary(3)|liver(1)	11						c.(265-267)AAG>TAG		KH domain-containing, RNA-binding, signal							150.0	141.0	144.0					6																	62757854		2203	4300	6503	SO:0001587	stop_gained	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62757854T>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.265A>T	6.37:g.62757854T>A	ENSP00000281156:p.Lys89*						p.K89*	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	3	512	-			89			KH.		A8K7M8|Q8N4I4|Q8TCZ4	Nonsense_Mutation	SNP	ENST00000281156.4	37	c.265A>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	T	39	7.760020	0.98474	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	.	.	.	5.05	5.05	0.67936	.	0.148826	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2222	15.0834	0.72133	0.0:0.0:0.0:1.0	.	.	.	.	X	89	.	ENSP00000281156:K89X	K	-	1	0	KHDRBS2	62815813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.993000	0.88291	2.015000	0.59207	0.377000	0.23210	AAG		0.353	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2		NM_152688		21	39	0	0	0	0.204396	0	21	39		
B3GAT2	135152	broad.mit.edu	37	6	71665845	71665845	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr6:71665845C>T	ENST00000230053.6	-	1	896	c.288G>A	c.(286-288)gcG>gcA	p.A96A		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	96					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GGGTCAGCTCCGCTTTCTGCA	0.697																																						uc003pfv.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(286-288)GCG>GCA		beta-1,3-glucuronyltransferase 2							28.0	32.0	31.0					6																	71665845		2199	4296	6495	SO:0001819	synonymous_variant	135152				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr6:71665845C>T	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.288G>A	6.37:g.71665845C>T						B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Silent_p.A96A	p.A96A	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN			1	944	-			96			Lumenal (Potential).		Q5JS09|Q8TF38|Q96NK4	Silent	SNP	ENST00000230053.6	37	c.288G>A	CCDS4974.1																																																																																				0.697	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2		NM_080742		7	16	0	0	0	0.058154	0	7	16		
TMEM200A	114801	broad.mit.edu	37	6	130762085	130762085	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr6:130762085T>C	ENST00000296978.3	+	3	1389	c.518T>C	c.(517-519)cTa>cCa	p.L173P	TMEM200A_ENST00000545622.1_Missense_Mutation_p.L173P|TMEM200A_ENST00000392429.1_Missense_Mutation_p.L173P	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	173						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATTCACACGCTAAGAATCAAG	0.423																																						uc003qca.2		NaN																	0				ovary(1)	1						c.(517-519)CTA>CCA		transmembrane protein 200A							101.0	92.0	95.0					6																	130762085		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762085T>C	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.518T>C	6.37:g.130762085T>C	ENSP00000296978:p.Leu173Pro					TMEM200A_uc010kfh.2_Missense_Mutation_p.L173P|TMEM200A_uc010kfi.2_Missense_Mutation_p.L173P|TMEM200A_uc003qcb.2_Missense_Mutation_p.L173P	p.L173P	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1389	+			173			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.518T>C	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.984699	0.53934	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.6	5.6	0.85130	.	0.146099	0.45361	D	0.000380	T	0.56790	0.2009	M	0.61703	1.905	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	T	0.65253	-0.6213	9	0.87932	D	0	.	10.1811	0.42968	0.0:0.0742:0.0:0.9258	.	173	Q86VY9	T200A_HUMAN	P	173	.	ENSP00000296978:L173P	L	+	2	0	TMEM200A	130803778	1.000000	0.71417	0.108000	0.21378	0.824000	0.46624	4.943000	0.63554	2.129000	0.65627	0.533000	0.62120	CTA		0.423	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1		NM_052913		10	29	0	0	0	0.09319	0	10	29		
C7orf26	79034	broad.mit.edu	37	7	6634164	6634164	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:6634164C>T	ENST00000344417.5	+	3	780	c.513C>T	c.(511-513)ttC>ttT	p.F171F	C7orf26_ENST00000359073.5_Silent_p.F152F|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	171										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		AGCAGATATTCAGTGCCAGCC	0.502																																						uc003sqo.1		NaN																	0				ovary(1)	1						c.(511-513)TTC>TTT		hypothetical protein LOC79034							191.0	166.0	175.0					7																	6634164		2203	4300	6503	SO:0001819	synonymous_variant	79034							g.chr7:6634164C>T	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.513C>T	7.37:g.6634164C>T						C7orf26_uc003sqp.1_Silent_p.F152F|C7orf26_uc003sqq.1_Intron	p.F171F	NM_024067	NP_076972	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	3	513	+		Ovarian(82;0.232)	171					Q9BQ43	Silent	SNP	ENST00000344417.5	37	c.513C>T	CCDS5353.1																																																																																				0.502	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2		NM_024067		9	121	0	0	0	0.058154	0	9	121		
SP4	6671	broad.mit.edu	37	7	21469484	21469484	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:21469484G>C	ENST00000222584.3	+	3	919	c.701G>C	c.(700-702)aGa>aCa	p.R234T		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	234					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GTCCAAATTAGACCTGGTGTT	0.443																																						uc003sva.2		NaN																	0				ovary(3)|skin(2)	5						c.(700-702)AGA>ACA		Sp4 transcription factor							76.0	76.0	76.0					7																	21469484		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469484G>C		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.701G>C	7.37:g.21469484G>C	ENSP00000222584:p.Arg234Thr					SP4_uc003svb.2_5'UTR	p.R234T	NM_003112	NP_003103	Q02446	SP4_HUMAN			3	882	+			234					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.701G>C	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624680	0.66901	.	.	ENSG00000105866	ENST00000222584	T	0.09163	3.01	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	L	0.51422	1.61	0.58432	D	0.999991	D	0.57899	0.981	D	0.67231	0.95	T	0.00512	-1.1696	10	0.41790	T	0.15	.	18.0115	0.89225	0.0:0.0:1.0:0.0	.	234	Q02446	SP4_HUMAN	T	234	ENSP00000222584:R234T	ENSP00000222584:R234T	R	+	2	0	SP4	21436009	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.482000	0.83794	0.655000	0.94253	AGA		0.443	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2		NM_003112		16	116	0	0	0	0.132662	0	16	116		
ZNF92	168374	broad.mit.edu	37	7	64864186	64864186	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:64864186C>T	ENST00000328747.7	+	4	1358	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	ZNF92_ENST00000357512.2_Missense_Mutation_p.H355Y|ZNF92_ENST00000450302.2_Missense_Mutation_p.H318Y|ZNF92_ENST00000431504.1_Missense_Mutation_p.H311Y	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	387					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(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				CCTTACTAAACATAAAAGAAT	0.358																																						uc003ttz.2		NaN																	0					0						c.(1159-1161)CAT>TAT		zinc finger protein 92 isoform 2							37.0	41.0	40.0					7																	64864186		2196	4293	6489	SO:0001583	missense	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64864186C>T	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1159C>T	7.37:g.64864186C>T	ENSP00000332595:p.His387Tyr					ZNF92_uc003tua.2_Missense_Mutation_p.H318Y|ZNF92_uc010kzu.2_Missense_Mutation_p.H355Y|ZNF92_uc003tub.2_Missense_Mutation_p.H311Y	p.H387Y	NM_152626	NP_689839	Q03936	ZNF92_HUMAN			4	1302	+		Lung NSC(55;0.159)	387			C2H2-type 9.		A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	ENST00000328747.7	37	c.1159C>T	CCDS34646.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724800	0.48833	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	0.418	0.418	0.16429	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94172	0.8130	H	0.95884	3.735	0.34721	D	0.728738	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	D	0.92903	0.6341	9	0.87932	D	0	.	6.6212	0.22804	0.0:0.9999:0.0:1.0E-4	.	355;387	Q03936-3;Q03936	.;ZNF92_HUMAN	Y	387;311;355;318	ENSP00000332595:H387Y;ENSP00000400495:H311Y;ENSP00000350113:H355Y;ENSP00000396126:H318Y	ENSP00000332595:H387Y	H	+	1	0	ZNF92	64501621	0.997000	0.39634	0.196000	0.23383	0.188000	0.23474	5.366000	0.66122	0.452000	0.26830	0.460000	0.39030	CAT		0.358	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2		NM_152626		19	22	0	0	0	0.175082	0	19	22		
SEMA3A	10371	broad.mit.edu	37	7	83591109	83591109	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:83591109G>C	ENST00000265362.4	-	17	2208	c.1894C>G	c.(1894-1896)Caa>Gaa	p.Q632E	SEMA3A_ENST00000436949.1_Missense_Mutation_p.Q632E	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	632	Ig-like C2-type.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGAAGGCCTTGATCTGTCCTG	0.398																																						uc003uhz.2		NaN																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1894-1896)CAA>GAA		semaphorin 3A precursor							62.0	56.0	58.0					7																	83591109		2203	4299	6502	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83591109G>C	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1894C>G	7.37:g.83591109G>C	ENSP00000265362:p.Gln632Glu						p.Q632E	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			17	2209	-			632			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000265362.4	37	c.1894C>G	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612262	0.46631	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.01495	4.83;4.83	6.17	5.29	0.74685	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048468	0.85682	D	0.000000	T	0.05273	0.0140	M	0.79693	2.465	0.80722	D	1	B	0.30179	0.271	B	0.32677	0.15	T	0.14615	-1.0466	10	0.46703	T	0.11	.	17.7532	0.88441	0.0:0.1222:0.8778:0.0	.	632	Q14563	SEM3A_HUMAN	E	632	ENSP00000265362:Q632E;ENSP00000415260:Q632E	ENSP00000265362:Q632E	Q	-	1	0	SEMA3A	83429045	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	7.843000	0.86859	1.616000	0.50265	0.655000	0.94253	CAA		0.398	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2		NM_006080		17	21	0	0	0	0.146539	0	17	21		
COL1A2	1278	broad.mit.edu	37	7	94043017	94043017	+	Missense_Mutation	SNP	G	G	A	rs147074348		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:94043017G>A	ENST00000297268.6	+	27	2044	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	525					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCAGGTCCTGATGGAAACAA	0.453										HNSCC(75;0.22)																												uc003ung.1		NaN																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(1573-1575)GAT>AAT		alpha 2 type I collagen precursor	Collagenase(DB00048)						108.0	102.0	104.0					7																	94043017		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94043017G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1573G>A	7.37:g.94043017G>A	ENSP00000297268:p.Asp525Asn	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.D525N	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		27	2044	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		525					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1573G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211236	0.79240	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93307	-3.2	5.4	5.4	0.78164	.	0.054395	0.64402	D	0.000001	D	0.94601	0.8260	L	0.41356	1.27	0.80722	D	1	D	0.54601	0.967	P	0.60117	0.869	D	0.94608	0.7802	10	0.56958	D	0.05	.	19.5643	0.95386	0.0:0.0:1.0:0.0	.	525	P08123	CO1A2_HUMAN	N	525;526	ENSP00000297268:D525N	ENSP00000297268:D525N	D	+	1	0	COL1A2	93880953	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	9.818000	0.99354	2.700000	0.92200	0.655000	0.94253	GAT		0.453	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2		NM_000089		16	25	0	0	0	0.175082	0	16	25		
PSMC2	5701	broad.mit.edu	37	7	103007921	103007921	+	Silent	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103007921G>C	ENST00000435765.1	+	11	1317	c.906G>C	c.(904-906)ctG>ctC	p.L302L	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Silent_p.L165L|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.L302L	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	302					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TGTTGGAACTGATCAATCAGC	0.453																																						uc003vbs.2		NaN																	0					0						c.(904-906)CTG>CTC		proteasome 26S ATPase subunit 2							141.0	127.0	132.0					7																	103007921		2203	4300	6503	SO:0001819	synonymous_variant	5701				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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103007921G>C	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.906G>C	7.37:g.103007921G>C						SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Silent_p.L165L	p.L302L	NM_002803	NP_002794	P35998	PRS7_HUMAN			10	976	+			302					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	c.906G>C	CCDS5731.1																																																																																				0.453	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803		14	55	0	0	0	0.132662	0	14	55		
PSMC2	5701	broad.mit.edu	37	7	103007988	103007988	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103007988G>A	ENST00000435765.1	+	11	1384	c.973G>A	c.(973-975)Gat>Aat	p.D325N	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.D188N|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.D325N	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	325					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TAACAGACCTGATACTTTGGA	0.403																																						uc003vbs.2		NaN																	0					0						c.(973-975)GAT>AAT		proteasome 26S ATPase subunit 2							89.0	82.0	84.0					7																	103007988		2203	4300	6503	SO:0001583	missense	5701				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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103007988G>A	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.973G>A	7.37:g.103007988G>A	ENSP00000391211:p.Asp325Asn					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.D188N	p.D325N	NM_002803	NP_002794	P35998	PRS7_HUMAN			10	1043	+			325					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.973G>A	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951293	0.92660	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.95307	-3.67;-3.67;-3.67	5.24	5.24	0.73138	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96169	0.8751	L	0.46670	1.46	0.80722	D	1	D	0.64830	0.994	D	0.79784	0.993	D	0.96140	0.9099	10	0.51188	T	0.08	-25.0756	18.8843	0.92370	0.0:0.0:1.0:0.0	.	325	P35998	PRS7_HUMAN	N	325;325;188	ENSP00000391211:D325N;ENSP00000292644:D325N;ENSP00000445546:D188N	ENSP00000292644:D325N	D	+	1	0	PSMC2	102795224	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.771000	0.98977	2.462000	0.83206	0.650000	0.86243	GAT		0.403	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803		11	48	0	0	0	0.080935	0	11	48		
PSMC2	5701	broad.mit.edu	37	7	103008039	103008039	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103008039G>A	ENST00000435765.1	+	11	1435	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.E205K|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.E342K	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	342					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TAGAAAAATTGAATTTAGCTT	0.358																																						uc003vbs.2		NaN																	0					0						c.(1024-1026)GAA>AAA		proteasome 26S ATPase subunit 2							66.0	64.0	65.0					7																	103008039		2203	4300	6503	SO:0001583	missense	5701				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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103008039G>A	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1024G>A	7.37:g.103008039G>A	ENSP00000391211:p.Glu342Lys					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.E205K	p.E342K	NM_002803	NP_002794	P35998	PRS7_HUMAN			10	1094	+			342					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.1024G>A	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225090	0.95173	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.95171	-3.63;-3.63;-3.63	5.14	5.14	0.70334	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96762	0.8943	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97358	0.9968	10	0.87932	D	0	-23.9476	18.6642	0.91483	0.0:0.0:1.0:0.0	.	342	P35998	PRS7_HUMAN	K	342;342;205	ENSP00000391211:E342K;ENSP00000292644:E342K;ENSP00000445546:E205K	ENSP00000292644:E342K	E	+	1	0	PSMC2	102795275	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.771000	0.98977	2.405000	0.81733	0.650000	0.86243	GAA		0.358	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803		13	44	0	0	0	0.09319	0	13	44		
PSMC2	5701	broad.mit.edu	37	7	103008218	103008218	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103008218G>A	ENST00000435765.1	+	12	1517	c.1106G>A	c.(1105-1107)aGa>aAa	p.R369K	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.R232K|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.R369K	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	369					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGAGATATCAGATTTGAACTG	0.363																																						uc003vbs.2		NaN																	0					0						c.(1105-1107)AGA>AAA		proteasome 26S ATPase subunit 2							104.0	106.0	105.0					7																	103008218		2203	4300	6503	SO:0001583	missense	5701				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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103008218G>A	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1106G>A	7.37:g.103008218G>A	ENSP00000391211:p.Arg369Lys					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.R232K	p.R369K	NM_002803	NP_002794	P35998	PRS7_HUMAN			11	1176	+			369					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.1106G>A	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266155	0.95399	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.94758	-3.51;-3.51;-3.51	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.95481	0.8532	L	0.35593	1.075	0.80722	D	1	D	0.59767	0.986	D	0.70227	0.968	D	0.96304	0.9223	10	0.72032	D	0.01	-13.7382	18.5674	0.91121	0.0:0.0:1.0:0.0	.	369	P35998	PRS7_HUMAN	K	369;369;232	ENSP00000391211:R369K;ENSP00000292644:R369K;ENSP00000445546:R232K	ENSP00000292644:R369K	R	+	2	0	PSMC2	102795454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.483000	0.97937	2.367000	0.80283	0.644000	0.83932	AGA		0.363	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803		19	57	0	0	0	0.189662	0	19	57		
PSMC2	5701	broad.mit.edu	37	7	103008346	103008346	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103008346G>A	ENST00000435765.1	+	13	1558	c.1147G>A	c.(1147-1149)Gct>Act	p.A383T	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.A246T|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.A383T	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	383					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TTTGAAAGGTGCTGAGATTAG	0.413																																						uc003vbs.2		NaN																	0					0						c.(1147-1149)GCT>ACT		proteasome 26S ATPase subunit 2							96.0	94.0	95.0					7																	103008346		2203	4300	6503	SO:0001583	missense	5701				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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103008346G>A	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1147G>A	7.37:g.103008346G>A	ENSP00000391211:p.Ala383Thr					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.A246T	p.A383T	NM_002803	NP_002794	P35998	PRS7_HUMAN			12	1217	+			383					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.1147G>A	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478061	0.96291	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.95377	-3.69;-3.69;-3.69	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.98695	0.9562	H	0.97465	4.01	0.80722	D	1	D	0.69078	0.997	D	0.74023	0.982	D	0.99556	1.0967	10	0.87932	D	0	-20.8808	19.3665	0.94464	0.0:0.0:1.0:0.0	.	383	P35998	PRS7_HUMAN	T	383;383;246	ENSP00000391211:A383T;ENSP00000292644:A383T;ENSP00000445546:A246T	ENSP00000292644:A383T	A	+	1	0	PSMC2	102795582	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.483000	0.97937	2.573000	0.86826	0.644000	0.83932	GCT		0.413	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803		17	65	0	0	0	0.146539	0	17	65		
PSMC2	5701	broad.mit.edu	37	7	103008392	103008392	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103008392G>A	ENST00000435765.1	+	13	1604	c.1193G>A	c.(1192-1194)aGa>aAa	p.R398K	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.R261K|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.R398K	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	398					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TTTGCCATCAGAGCACGGCGA	0.423																																						uc003vbs.2		NaN																	0					0						c.(1192-1194)AGA>AAA		proteasome 26S ATPase subunit 2							94.0	92.0	92.0					7																	103008392		2203	4300	6503	SO:0001583	missense	5701				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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103008392G>A	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1193G>A	7.37:g.103008392G>A	ENSP00000391211:p.Arg398Lys					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.R261K	p.R398K	NM_002803	NP_002794	P35998	PRS7_HUMAN			12	1263	+			398					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.1193G>A	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519555	0.96416	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.95069	-3.6;-3.6;-3.6	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.97018	0.9026	M	0.74258	2.255	0.80722	D	1	D	0.56035	0.974	D	0.66084	0.941	D	0.97386	0.9986	10	0.87932	D	0	-12.2835	19.3665	0.94464	0.0:0.0:1.0:0.0	.	398	P35998	PRS7_HUMAN	K	398;398;261	ENSP00000391211:R398K;ENSP00000292644:R398K;ENSP00000445546:R261K	ENSP00000292644:R398K	R	+	2	0	PSMC2	102795628	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.729000	0.98795	2.573000	0.86826	0.644000	0.83932	AGA		0.423	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803		16	77	0	0	0	0.146539	0	16	77		
PSMC2	5701	broad.mit.edu	37	7	103008417	103008417	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103008417G>A	ENST00000435765.1	+	13	1629	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Silent_p.E269E|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.E406E	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	406					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TTGCTACCGAGAAGGATTTCT	0.423																																						uc003vbs.2		NaN																	0					0						c.(1216-1218)GAG>GAA		proteasome 26S ATPase subunit 2							88.0	86.0	87.0					7																	103008417		2203	4300	6503	SO:0001819	synonymous_variant	5701				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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103008417G>A	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1218G>A	7.37:g.103008417G>A						SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Silent_p.E269E	p.E406E	NM_002803	NP_002794	P35998	PRS7_HUMAN			12	1288	+			406					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	c.1218G>A	CCDS5731.1																																																																																				0.423	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803		17	66	0	0	0	0.146539	0	17	66		
CTHRC1	115908	broad.mit.edu	37	8	104388121	104388121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr8:104388121G>A	ENST00000330295.5	+	2	448	c.306G>A	c.(304-306)tgG>tgA	p.W102*	CTHRC1_ENST00000520337.1_Nonsense_Mutation_p.W88*|CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000415886.2_Nonsense_Mutation_p.W102*	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	102					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			AGGAGTCCTGGACACCCAACT	0.453																																						uc003ylk.2		NaN																	0				ovary(1)	1						c.(304-306)TGG>TGA		collagen triple helix repeat containing 1							69.0	67.0	67.0					8																	104388121		2203	4300	6503	SO:0001587	stop_gained	115908					collagen		g.chr8:104388121G>A	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.306G>A	8.37:g.104388121G>A	ENSP00000330523:p.Trp102*					CTHRC1_uc011lhq.1_Nonsense_Mutation_p.W102*	p.W102*	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	405	+			102					G3V141|Q6UW91|Q8IX63	Nonsense_Mutation	SNP	ENST00000330295.5	37	c.306G>A	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	G	36	5.796344	0.96952	.	.	ENSG00000164932	ENST00000330295;ENST00000415886;ENST00000520337;ENST00000297577	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-4.0992	19.8131	0.96556	0.0:0.0:1.0:0.0	.	.	.	.	X	102;102;88;88	.	ENSP00000297577:W88X	W	+	3	0	CTHRC1	104457297	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.682000	0.91365	0.585000	0.79938	TGG		0.453	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1		NM_138455		10	64	0	0	0	0.058154	0	10	64		
ZFP37	7539	broad.mit.edu	37	9	115806366	115806366	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr9:115806366C>G	ENST00000374227.3	-	4	559	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	ZFP37_ENST00000555206.1_Missense_Mutation_p.E179Q|ZFP37_ENST00000553380.1_Missense_Mutation_p.E193Q	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCACATGACTCAAATTTAAGA	0.333																																						uc004bgm.1		NaN																	0				ovary(1)|skin(1)	2						c.(532-534)GAG>CAG		zinc finger protein 37 homolog							80.0	83.0	82.0					9																	115806366		2202	4298	6500	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806366C>G	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.532G>C	9.37:g.115806366C>G	ENSP00000363344:p.Glu178Gln					ZFP37_uc011lwz.1_Missense_Mutation_p.E193Q|ZFP37_uc011lxa.1_Missense_Mutation_p.E179Q	p.E178Q	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	560	-			178					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.532G>C	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	5.782	0.328712	0.10956	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05855	3.38;3.38;3.41	4.43	2.42	0.29668	.	0.658399	0.13351	N	0.394420	T	0.06645	0.0170	L	0.45352	1.415	0.09310	N	1	B;B;B	0.22851	0.076;0.076;0.002	B;B;B	0.23716	0.048;0.048;0.009	T	0.30937	-0.9961	10	0.45353	T	0.12	-6.5586	7.6301	0.28234	0.0:0.7632:0.0:0.2368	.	179;193;178	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	Q	178;179;193	ENSP00000363344:E178Q;ENSP00000451310:E179Q;ENSP00000452552:E193Q	ENSP00000363344:E178Q	E	-	1	0	ZFP37	114846187	0.005000	0.15991	0.095000	0.20976	0.112000	0.19704	0.015000	0.13355	0.685000	0.31468	0.655000	0.94253	GAG		0.333	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1		NM_003408		9	38	0	0	0	0.047766	0	9	38		
PAPPA	5069	broad.mit.edu	37	9	118982346	118982346	+	Silent	SNP	C	C	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr9:118982346C>A	ENST00000328252.3	+	5	2418	c.2049C>A	c.(2047-2049)ggC>ggA	p.G683G	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	683					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAGTTCTGGGCCACACAACGG	0.562																																						uc004bjn.2		NaN																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(2047-2049)GGC>GGA		pregnancy-associated plasma protein A							155.0	148.0	151.0					9																	118982346		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118982346C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2049C>A	9.37:g.118982346C>A						PAPPA_uc011lxp.1_Silent_p.G378G|PAPPA_uc011lxq.1_Intron	p.G683G	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			5	2430	+			683					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.2049C>A	CCDS6813.1																																																																																				0.562	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1		NM_002581		37	57	1	0	2.6416e-12	0.235728	3.07058e-12	37	57		
GPR21	2844	broad.mit.edu	37	9	125797575	125797575	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr9:125797575G>A	ENST00000373642.1	+	1	770	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	244					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGAAGTGCAGGCCTGTCCTGA	0.488																																						uc011lzk.1		NaN																	0				ovary(1)	1						c.(730-732)GCC>ACC		G protein-coupled receptor 21							155.0	140.0	145.0					9																	125797575		2203	4300	6503	SO:0001583	missense	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797575G>A	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.730G>A	9.37:g.125797575G>A	ENSP00000362746:p.Ala244Thr					RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	p.A244T	NM_005294	NP_005285	Q99679	GPR21_HUMAN			1	730	+			244			Cytoplasmic (Potential).		B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	c.730G>A	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	G	4.408	0.075481	0.08485	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.46819	0.86	5.93	0.0248	0.14143	GPCR, rhodopsin-like superfamily (1);	0.721920	0.11824	N	0.525894	T	0.25754	0.0627	L	0.28344	0.845	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17379	-1.0371	10	0.20519	T	0.43	-3.4463	1.102	0.01686	0.2449:0.1845:0.373:0.1976	.	244	Q99679	GPR21_HUMAN	T	244	ENSP00000362746:A244T	ENSP00000362746:A244T	A	+	1	0	GPR21	124837396	0.924000	0.31332	0.869000	0.34112	0.932000	0.56968	0.036000	0.13819	0.081000	0.16988	0.591000	0.81541	GCC		0.488	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1		NM_005294		20	61	0	0	0	0.219247	0	20	61		
ARSD	414	broad.mit.edu	37	X	2825476	2825476	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chrX:2825476C>T	ENST00000381154.1	-	10	1693	c.1618G>A	c.(1618-1620)Gtg>Atg	p.V540M	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	540					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		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)				CTTGCTATCACGGCGTGGTAC	0.647																																						uc004cqy.2		NaN																	0					0						c.(1618-1620)GTG>ATG		arylsulfatase D isoform a precursor							27.0	25.0	26.0					X																	2825476		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2825476C>T	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1618G>A	X.37:g.2825476C>T	ENSP00000370546:p.Val540Met					ARSD_uc004cqz.1_RNA	p.V540M	NM_001669	NP_001660	P51689	ARSD_HUMAN			10	1694	-		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)	540					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.1618G>A	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	c	14.47	2.544845	0.45280	.	.	ENSG00000006756	ENST00000381154;ENST00000458014	D;D	0.91464	-2.85;-2.85	3.03	2.13	0.27403	Alkaline-phosphatase-like, core domain (1);	0.085942	0.45361	U	0.000380	D	0.90868	0.7131	M	0.82517	2.595	0.09310	N	1	D	0.61080	0.989	P	0.48334	0.574	D	0.84297	0.0503	10	0.62326	D	0.03	.	8.0127	0.30363	0.0:0.7774:0.0:0.2226	.	540	P51689	ARSD_HUMAN	M	540;142	ENSP00000370546:V540M;ENSP00000409180:V142M	ENSP00000370546:V540M	V	-	1	0	ARSD	2835476	0.003000	0.15002	0.003000	0.11579	0.003000	0.03518	1.037000	0.30241	1.164000	0.42652	0.521000	0.50471	GTG		0.647	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1				4	10	0	0	0	0.150653	0	4	10		
DMD	1756	broad.mit.edu	37	X	32235148	32235148	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chrX:32235148C>T	ENST00000357033.4	-	44	6529	c.6323G>A	c.(6322-6324)cGt>cAt	p.R2108H	DMD_ENST00000378677.2_Missense_Mutation_p.R2104H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2108			R -> C (in dbSNP:rs16990169).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATAATGAAAACGCCGCCATTT	0.348																																						uc004dda.1		NaN																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6322-6324)CGT>CAT		dystrophin Dp427m isoform							52.0	47.0	48.0					X																	32235148		2202	4295	6497	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32235148C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6323G>A	X.37:g.32235148C>T	ENSP00000354923:p.Arg2108His					DMD_uc004dcw.2_Missense_Mutation_p.R764H|DMD_uc004dcx.2_Missense_Mutation_p.R767H|DMD_uc004dcz.2_Missense_Mutation_p.R1985H|DMD_uc004dcy.1_Missense_Mutation_p.R2104H|DMD_uc004ddb.1_Missense_Mutation_p.R2100H|DMD_uc010ngo.1_Missense_Mutation_p.R17H|DMD_uc010ngn.1_Intron	p.R2108H	NM_004006	NP_003997	P11532	DMD_HUMAN			44	6567	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2108			Spectrin 15.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6323G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	9.434	1.086240	0.20390	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.53423	0.62;0.62	5.75	1.82	0.25136	.	0.494627	0.14876	N	0.293226	T	0.20618	0.0496	N	0.03608	-0.345	0.27481	N	0.952563	B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.001;0.0	B;B;B;B;B;B	0.06405	0.0;0.0;0.002;0.001;0.001;0.0	T	0.13098	-1.0522	10	0.44086	T	0.13	.	4.1294	0.10143	0.1676:0.3362:0.0:0.4962	.	767;2100;2108;2104;767;764	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	H	2100;767;764;2104;2108;2108;1985	ENSP00000367948:R2104H;ENSP00000354923:R2108H	ENSP00000354923:R2108H	R	-	2	0	DMD	32145069	0.133000	0.22466	0.594000	0.28785	0.865000	0.49528	0.125000	0.15749	0.146000	0.19002	-0.305000	0.09177	CGT		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006		13	11	0	0	0	0.11911	0	13	11		
KIAA1210	57481	broad.mit.edu	37	X	118223492	118223492	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chrX:118223492G>A	ENST00000402510.2	-	11	1700	c.1701C>T	c.(1699-1701)ggC>ggT	p.G567G		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	567										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CAGCTCTATCGCCCAGGCCAT	0.473																																						uc004era.3		NaN																	0				ovary(4)|skin(1)	5						c.(1699-1701)GGC>GGT		hypothetical protein LOC57481							172.0	167.0	168.0					X																	118223492		2022	4156	6178	SO:0001819	synonymous_variant	57481							g.chrX:118223492G>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1701C>T	X.37:g.118223492G>A							p.G567G	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	1701	-			567					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.1701C>T	CCDS48156.1																																																																																				0.473	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2		NM_020721		28	47	0	0	0	0.108266	0	28	47		
ILDR2	387597	broad.mit.edu	37	1	166889977	166889979	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:166889977_166889979delCTC	ENST00000271417.3	-	9	1904_1906	c.1849_1851delGAG	c.(1849-1851)gagdel	p.E617del	ILDR2_ENST00000529071.1_In_Frame_Del_p.E598del|ILDR2_ENST00000526687.1_In_Frame_Del_p.E509del|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_In_Frame_Del_p.E558del|ILDR2_ENST00000525740.1_In_Frame_Del_p.E490del	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	617					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TCCTCTTCTTCTCCGAGTTGCTG	0.685																																						uc001gdx.1		NaN																	0				ovary(1)	1						c.(1849-1851)GAGdel		immunoglobulin-like domain containing receptor																																				SO:0001651	inframe_deletion	387597					integral to membrane		g.chr1:166889977_166889979delCTC	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1849_1851delGAG	1.37:g.166889977_166889979delCTC	ENSP00000271417:p.Glu617del						p.E617del	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			9	1905_1907	-			617			Cytoplasmic (Potential).			In_Frame_Del	DEL	ENST00000271417.3	37	c.1849_1851delGAG	CCDS1256.1																																																																																				0.685	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2		NM_199351		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
OR2M3	127062	broad.mit.edu	37	1	248366372	248366372	+	Start_Codon_Del	DEL	G	G	-			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:248366372delG	ENST00000456743.1	+	0	41					NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACACATCATGGCAAGGGAGA	0.438																																						uc010pzg.1		NaN																	0				ovary(1)|skin(1)	2						c.(1-3)ATGfs		olfactory receptor, family 2, subfamily M,							165.0	165.0	165.0					1																	248366372		2203	4300	6503	SO:0001582	initiator_codon_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366372delG		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459		1.37:g.248366372delG							p.M1fs	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	3	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		1			Extracellular (Potential).		B9EH06|Q6IEY0	Frame_Shift_Del	DEL	ENST00000456743.1	37	c.3delG	CCDS31107.1																																																																																				0.438	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1		NM_001004689		41	149	NaN	NaN	NaN	NaN	NaN	41	149	---	---
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-	rs371570689		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aaafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428																																						uc001upy.2		NaN																	1	Deletion - Frameshift(1)		ovary(1)	ovary(3)|skin(1)	4						c.(997-999)AAAfs		poly(A) binding protein, cytoplasmic 3							162.0	159.0	160.0					13																	25671333		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671333delA	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.997delA	13.37:g.25671333delA	ENSP00000281589:p.Lys333fs						p.K333fs	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1058	+		Lung SC(185;0.0225)|Breast(139;0.0602)	333			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.997delA	CCDS9311.1																																																																																				0.428	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2		NM_030979		12	153	NaN	NaN	NaN	NaN	NaN	12	153	---	---
CREBBP	1387	broad.mit.edu	37	16	3828084	3828085	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr16:3828084_3828085insC	ENST00000262367.5	-	10	2849_2850	c.2040_2041insG	c.(2038-2043)gggaacfs	p.N681fs	CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.N643fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	681					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|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 transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGGCTGGTTCCCCAAGATGC	0.46			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(2038-2043)GGGAACfs		CREB binding protein isoform a																																				SO:0001589	frameshift_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3828084_3828085insC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2041dupG	16.37:g.3828088_3828088dupC	ENSP00000262367:p.Asn681fs					CREBBP_uc002cvw.2_Frame_Shift_Ins_p.G642fs	p.G680fs	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	10	2244_2245	-		Ovarian(90;0.0266)	680_681					D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Ins	INS	ENST00000262367.5	37	c.2040_2041insG	CCDS10509.1																																																																																				0.460	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		39	108	NaN	NaN	NaN	NaN	NaN	39	108	---	---
EFCAB5	374786	broad.mit.edu	37	17	28296048	28296049	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr17:28296048_28296049insA	ENST00000394835.3	+	4	622_623	c.430_431insA	c.(430-432)gaafs	p.E144fs	EFCAB5_ENST00000378738.3_Frame_Shift_Ins_p.E144fs|EFCAB5_ENST00000394832.2_Frame_Shift_Ins_p.E144fs|EFCAB5_ENST00000536908.2_Frame_Shift_Ins_p.E88fs|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000320856.5_Frame_Shift_Ins_p.E144fs|EFCAB5_ENST00000541045.1_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	144							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAAGGAACTAGAAAAAAAGGCT	0.366																																						uc002het.2		NaN																	0				ovary(1)|skin(1)	2						c.(430-432)GAAfs		EF-hand calcium binding domain 5 isoform a																																				SO:0001589	frameshift_variant	374786						calcium ion binding	g.chr17:28296048_28296049insA	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.437dupA	17.37:g.28296055_28296055dupA	ENSP00000378312:p.Glu144fs					EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Frame_Shift_Ins_p.E88fs|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Frame_Shift_Ins_p.E23fs|EFCAB5_uc010csf.2_Frame_Shift_Ins_p.E23fs	p.E144fs	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			4	622_623	+			144					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Frame_Shift_Ins	INS	ENST00000394835.3	37	c.430_431insA	CCDS11254.2																																																																																				0.366	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529		6	8	NaN	NaN	NaN	NaN	NaN	6	8	---	---
SCARF2	91179	broad.mit.edu	37	22	20785803	20785803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr22:20785803delC	ENST00000266214.5	-	4	460	c.356delG	c.(355-357)ggcfs	p.G119fs	SCARF2_ENST00000405555.3_Frame_Shift_Del_p.G119fs	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	119					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGTCGGGGCCCCAGAACTG	0.716																																						uc002zsj.1		NaN																	0				breast(1)	1						c.(355-357)GGCfs		scavenger receptor class F, member 2 isoform 1							6.0	7.0	7.0					22																	20785803		2024	3940	5964	SO:0001589	frameshift_variant	91179				cell adhesion	integral to membrane	protein binding|receptor activity	g.chr22:20785803delC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.356delG	22.37:g.20785803delC	ENSP00000266214:p.Gly119fs					SCARF2_uc002zsk.1_Frame_Shift_Del_p.G119fs	p.G119fs	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	461	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	119			Extracellular (Potential).		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Frame_Shift_Del	DEL	ENST00000266214.5	37	c.356delG	CCDS13779.1																																																																																				0.716	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1				2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
HIST1H2BO	8348	broad.mit.edu	37	6	27861467	27861477	+	Frame_Shift_Del	DEL	GCGAGGCTTCC	GCGAGGCTTCC	-	rs145888457|rs142034002	byFrequency	TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr6:27861467_27861477delGCGAGGCTTCC	ENST00000303806.4	+	1	265_275	c.227_237delGCGAGGCTTCC	c.(226-237)ggcgaggcttccfs	p.GEAS76fs	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	76					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77K(2)									CGCATCGCTGGCGAGGCTTCCCGCCTGGCGC	0.616																																						uc003nkc.1		NaN																	2	Substitution - Missense(2)		lung(1)|skin(1)		0						c.(226-237)GGCGAGGCTTCCfs		histone cluster 1, H2bo																																				SO:0001589	frameshift_variant	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861467_27861477delGCGAGGCTTCC	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.227_237delGCGAGGCTTCC	6.37:g.27861467_27861477delGCGAGGCTTCC	ENSP00000303408:p.Gly76fs					HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	p.G76fs	NM_003527	NP_003518	P23527	H2B1O_HUMAN			1	265_275	+			76_79					Q3KPI7|Q8TCV6	Frame_Shift_Del	DEL	ENST00000303806.4	37	c.227_237delGCGAGGCTTCC	CCDS4640.1																																																																																				0.616	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1		NM_003527		28	67	NaN	NaN	NaN	NaN	NaN	28	67	---	---
IGF2R	3482	broad.mit.edu	37	6	160500714	160500721	+	Frame_Shift_Del	DEL	ACCAAGGG	ACCAAGGG	-	rs531909784		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr6:160500714_160500721delACCAAGGG	ENST00000356956.1	+	38	5729_5736	c.5581_5588delACCAAGGG	c.(5581-5589)accaaggggfs	p.TKG1861fs		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1861					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)	GCTCTCAGGCACCAAGGGGGCATCCTTT	0.562																																						uc003qta.2		NaN																	0				ovary(3)	3						c.(5581-5589)ACCAAGGGGfs		insulin-like growth factor 2 receptor precursor																																				SO:0001589	frameshift_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.chr6:160500714_160500721delACCAAGGG	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.5581_5588delACCAAGGG	6.37:g.160500714_160500721delACCAAGGG	ENSP00000349437:p.Thr1861fs						p.T1861fs	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	38	5729_5736	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1861_1863			13.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Frame_Shift_Del	DEL	ENST00000356956.1	37	c.5581_5588delACCAAGGG	CCDS5273.1																																																																																				0.562	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1		NM_000876		8	21	NaN	NaN	NaN	NaN	NaN	8	21	---	---
ACTL6B	51412	broad.mit.edu	37	7	100252715	100252716	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:100252715_100252716insT	ENST00000160382.5	-	4	401_402	c.295_296insA	c.(295-297)atcfs	p.I99fs		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	99					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGATCCAGGATGGCTCGGAAG	0.599																																						uc003uvy.2		NaN																	0				ovary(1)	1						c.(295-297)ATCfs		actin-like 6B																																				SO:0001589	frameshift_variant	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100252715_100252716insT	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.296dupA	7.37:g.100252716_100252716dupT	ENSP00000160382:p.Ile99fs					ACTL6B_uc003uvz.2_RNA|uc003uwa.1_5'Flank	p.I99fs	NM_016188	NP_057272	O94805	ACL6B_HUMAN			4	402_403	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		99					A4D2D0|O75421	Frame_Shift_Ins	INS	ENST00000160382.5	37	c.295_296insA	CCDS5702.1																																																																																				0.599	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1		NM_016188		9	30	NaN	NaN	NaN	NaN	NaN	9	30	---	---
CUL4B	8450	broad.mit.edu	37	X	119679350	119679350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chrX:119679350delA	ENST00000404115.3	-	7	1324	c.923delT	c.(922-924)ttgfs	p.L308fs	CUL4B_ENST00000371322.5_Frame_Shift_Del_p.L290fs|CUL4B_ENST00000336592.6_Frame_Shift_Del_p.L295fs|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	308					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCCAGAAACAAAAAAATGCT	0.308																																						uc004esw.2		NaN																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(922-924)TTGfs		cullin 4B isoform 1							37.0	35.0	36.0					X																	119679350		2191	4265	6456	SO:0001589	frameshift_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119679350delA	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.923delT	X.37:g.119679350delA	ENSP00000384109:p.Leu308fs					CUL4B_uc010nqq.2_Frame_Shift_Del_p.L7fs|CUL4B_uc004esv.2_Frame_Shift_Del_p.L290fs	p.L308fs	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			7	1360	-			308					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Frame_Shift_Del	DEL	ENST00000404115.3	37	c.923delT	CCDS35379.1																																																																																				0.308	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1		NM_003588		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
