#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C1orf168	199920	broad.mit.edu	37	1	57252852	57252852	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:57252852C>T	ENST00000343433.6	-	4	1029	c.949G>A	c.(949-951)Gag>Aag	p.E317K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	317								p.E317*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ACTTACCTCTCTGGAGACAGG	0.488																																						uc001cym.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)	5						c.(949-951)GAG>AAG		hypothetical protein LOC199920							122.0	109.0	113.0					1																	57252852		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57252852C>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.949G>A	1.37:g.57252852C>T	ENSP00000345972:p.Glu317Lys					C1orf168_uc009vzu.1_RNA	p.E317K	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			4	1355	-			317					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.949G>A	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	8.891	0.954057	0.18431	.	.	ENSG00000187889	ENST00000343433	T	0.40476	1.03	5.26	4.34	0.51931	.	0.889394	0.09505	N	0.793114	T	0.22085	0.0532	N	0.08118	0	0.28092	N	0.931755	B	0.09022	0.002	B	0.12156	0.007	T	0.18618	-1.0331	10	0.08599	T	0.76	.	9.4099	0.38485	0.0:0.9047:0.0:0.0953	.	317	Q5VWT5	CA168_HUMAN	K	317	ENSP00000345972:E317K	ENSP00000345972:E317K	E	-	1	0	C1orf168	57025440	0.991000	0.36638	0.943000	0.38184	0.019000	0.09904	2.221000	0.42917	1.440000	0.47531	0.557000	0.71058	GAG		0.488	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		35	42	0	0	0	0	35	42				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						uc001end.3		NA																	5	Substitution - Missense(5)		skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)		0						c.(10588-10590)GAA>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.E3530K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10623	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10588G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	49	0	0	0	0	3	49				
TCHH	7062	broad.mit.edu	37	1	152080007	152080007	+	Missense_Mutation	SNP	G	G	A	rs200484504		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:152080007G>A	ENST00000368804.1	-	2	5685	c.5686C>T	c.(5686-5688)Cgc>Tgc	p.R1896C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1896					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGACTTGGCGGTGCCTCTGT	0.582													g|||	1	0.000199681	0.0	0.0014	5008	,	,		18855	0.0		0.0	False		,,,				2504	0.0					uc001ezp.2		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(5686-5688)CGC>TGC		trichohyalin							156.0	157.0	156.0					1																	152080007		1998	4155	6153	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080007G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5686C>T	1.37:g.152080007G>A	ENSP00000357794:p.Arg1896Cys					TCHH_uc009wne.1_Missense_Mutation_p.R1896C	p.R1896C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5686	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1896					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5686C>T	CCDS41396.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	8.830	0.939591	0.18281	.	.	ENSG00000159450	ENST00000368804	T	0.06933	3.24	4.14	-6.59	0.01830	.	.	.	.	.	T	0.05044	0.0135	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	P	0.56474	0.799	T	0.08932	-1.0698	9	0.72032	D	0.01	-4.1255	1.8917	0.03249	0.1357:0.3432:0.1724:0.3487	.	1896	Q07283	TRHY_HUMAN	C	1896	ENSP00000357794:R1896C	ENSP00000357794:R1896C	R	-	1	0	TCHH	150346631	0.000000	0.05858	0.013000	0.15412	0.369000	0.29798	-0.556000	0.05992	-0.919000	0.03803	0.306000	0.20318	CGC		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		72	63	0	0	0	0	72	63				
RPTN	126638	broad.mit.edu	37	1	152128845	152128845	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:152128845C>G	ENST00000316073.3	-	3	794	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	244	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTATGTCTTTCAGACTGACCA	0.423																																						uc001ezs.1		NA																	0					0						c.(730-732)GAA>CAA		repetin							286.0	240.0	254.0					1																	152128845		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128845C>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.730G>C	1.37:g.152128845C>G	ENSP00000317895:p.Glu244Gln						p.E244Q	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	795	-			244			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.730G>C	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322137	0.41096	.	.	ENSG00000215853	ENST00000316073	T	0.12361	2.69	4.69	-4.02	0.04034	.	2.960320	0.02360	N	0.076818	T	0.03053	0.0090	L	0.39898	1.24	0.09310	N	1	P	0.38335	0.627	B	0.37650	0.255	T	0.26395	-1.0104	10	0.15952	T	0.53	0.0553	6.1269	0.20184	0.0:0.2473:0.3522:0.4005	.	244	Q6XPR3	RPTN_HUMAN	Q	244	ENSP00000317895:E244Q	ENSP00000317895:E244Q	E	-	1	0	RPTN	150395469	0.000000	0.05858	0.000000	0.03702	0.689000	0.40095	0.008000	0.13197	-0.923000	0.03785	0.442000	0.29010	GAA		0.423	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		100	115	0	0	0	0	100	115				
FLG	2312	broad.mit.edu	37	1	152285143	152285143	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:152285143C>T	ENST00000368799.1	-	3	2254	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	740	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R740L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTGTCCACT	0.577									Ichthyosis																													uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2218-2220)CGA>CAA		filaggrin							358.0	372.0	367.0					1																	152285143		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285143C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2219G>A	1.37:g.152285143C>T	ENSP00000357789:p.Arg740Gln					uc001ezv.2_5'Flank	p.R740Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2255	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		740			Filaggrin 4.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2219G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	7.288	0.610517	0.14066	.	.	ENSG00000143631	ENST00000368799	T	0.00902	5.56	4.17	-4.6	0.03390	.	.	.	.	.	T	0.00271	0.0008	L	0.35723	1.085	0.09310	N	1	B	0.21753	0.06	B	0.11329	0.006	T	0.34850	-0.9812	9	0.28530	T	0.3	-6.6813	5.5325	0.16993	0.0:0.2921:0.2422:0.4657	.	740	P20930	FILA_HUMAN	Q	740	ENSP00000357789:R740Q	ENSP00000357789:R740Q	R	-	2	0	FLG	150551767	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.438000	0.01017	-0.959000	0.03618	-3.944000	0.00015	CGA		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		250	325	0	0	0	0	250	325				
SUCO	51430	broad.mit.edu	37	1	172558719	172558719	+	Silent	SNP	A	A	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:172558719A>G	ENST00000263688.3	+	18	2697	c.2478A>G	c.(2476-2478)ccA>ccG	p.P826P	SUCO_ENST00000608151.1_Silent_p.P978P|SUCO_ENST00000610051.1_Intron|SUCO_ENST00000367723.4_Silent_p.P977P	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	826					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											CAATAGTGCCACCAATAAATA	0.348																																						uc001giq.3		NA																	0				ovary(2)	2						c.(2476-2478)CCA>CCG		chromosome 1 open reading frame 9 protein							42.0	43.0	43.0					1																	172558719		2203	4299	6502	SO:0001819	synonymous_variant	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172558719A>G	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2478A>G	1.37:g.172558719A>G						C1orf9_uc010pmm.1_Silent_p.P826P|C1orf9_uc009wwd.2_Silent_p.P782P|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	p.P826P	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	18	2794	+		Breast(1374;0.212)	826					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	c.2478A>G	CCDS1303.1																																																																																				0.348	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		4	20	0	0	0	0	4	20				
ASPM	259266	broad.mit.edu	37	1	197069707	197069707	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:197069707G>A	ENST00000367409.4	-	18	8930	c.8674C>T	c.(8674-8676)Cac>Tac	p.H2892Y	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2892					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTCTGTAGTGATTTTGTAAA	0.343																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(8674-8676)CAC>TAC		asp (abnormal spindle)-like, microcephaly							66.0	67.0	67.0					1																	197069707		2203	4297	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197069707G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8674C>T	1.37:g.197069707G>A	ENSP00000356379:p.His2892Tyr					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.H740Y	p.H2892Y	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	8931	-			2892					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.8674C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	0.517	-0.864100	0.02590	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.71222	-0.55	4.76	2.88	0.33553	.	0.530138	0.19090	N	0.122988	T	0.72835	0.3510	L	0.53780	1.695	0.09310	N	1	P;B	0.45531	0.86;0.23	P;B	0.61533	0.89;0.119	T	0.61362	-0.7078	10	0.02654	T	1	.	9.439	0.38657	0.2974:0.0:0.7026:0.0	.	878;2892	E7EQ84;Q8IZT6	.;ASPM_HUMAN	Y	2892;878	ENSP00000356379:H2892Y	ENSP00000356376:H878Y	H	-	1	0	ASPM	195336330	0.000000	0.05858	0.003000	0.11579	0.422000	0.31414	0.370000	0.20433	0.546000	0.28920	-0.251000	0.11542	CAC		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		24	26	0	0	0	0	24	26				
PCDH15	65217	broad.mit.edu	37	10	56138640	56138640	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:56138640C>T	ENST00000320301.6	-	4	614	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	PCDH15_ENST00000373957.3_Missense_Mutation_p.E52K|PCDH15_ENST00000395442.1_Missense_Mutation_p.E74K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E52K|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.E74K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E74K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E79K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E74K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E74K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E74K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E74K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E74K|PCDH15_ENST00000373965.2_Missense_Mutation_p.E74K|PCDH15_ENST00000395440.1_Missense_Mutation_p.E74K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E74K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAGAAAGTTCTATGGTGGGG	0.428										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(220-222)GAA>AAA		protocadherin 15 isoform CD1-4 precursor							155.0	163.0	160.0					10																	56138640		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56138640C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.220G>A	10.37:g.56138640C>T	ENSP00000322604:p.Glu74Lys	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.E79K|PCDH15_uc010qhr.1_Missense_Mutation_p.E74K|PCDH15_uc010qhs.1_Missense_Mutation_p.E79K|PCDH15_uc010qht.1_Missense_Mutation_p.E74K|PCDH15_uc010qhu.1_Missense_Mutation_p.E74K|PCDH15_uc001jjv.1_Missense_Mutation_p.E52K|PCDH15_uc010qhv.1_Missense_Mutation_p.E74K|PCDH15_uc010qhw.1_Missense_Mutation_p.E74K|PCDH15_uc010qhx.1_Missense_Mutation_p.E74K|PCDH15_uc010qhy.1_Missense_Mutation_p.E79K|PCDH15_uc010qhz.1_Missense_Mutation_p.E74K|PCDH15_uc010qia.1_Missense_Mutation_p.E52K|PCDH15_uc010qib.1_Missense_Mutation_p.E52K|PCDH15_uc001jjw.2_Missense_Mutation_p.E74K	p.E74K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			4	615	-		Melanoma(3;0.117)|Lung SC(717;0.238)	74			Cadherin 1.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.220G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679192	0.88542	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58506	0.43;0.49;0.4;0.4;0.46;0.73;0.64;0.34;0.33;0.38;0.33;0.34;0.33;0.38;0.5;0.78	5.3	5.3	0.74995	Cadherin (1);	.	.	.	.	T	0.61899	0.2384	L	0.29908	0.895	0.33648	D	0.608179	P;P;P;P;P;P;P;B;P;P;B;P;P;P;P	0.51791	0.945;0.948;0.779;0.779;0.874;0.948;0.945;0.397;0.61;0.895;0.397;0.552;0.837;0.749;0.895	P;P;B;B;P;P;P;B;B;B;B;B;P;B;P	0.55508	0.777;0.65;0.366;0.366;0.519;0.65;0.777;0.194;0.366;0.366;0.248;0.194;0.458;0.269;0.573	T	0.68930	-0.5279	9	0.41790	T	0.15	.	18.5421	0.91031	0.0:1.0:0.0:0.0	.	52;74;74;79;74;74;74;74;74;74;74;79;74;52;74	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	74;79;74;74;74;74;74;74;74;74;52;52;74;74;79;74;74;74	ENSP00000363076:E74K;ENSP00000410304:E79K;ENSP00000378826:E74K;ENSP00000378832:E74K;ENSP00000378833:E74K;ENSP00000378829:E74K;ENSP00000378827:E74K;ENSP00000378820:E74K;ENSP00000354950:E74K;ENSP00000378821:E52K;ENSP00000363068:E52K;ENSP00000322604:E74K;ENSP00000378818:E74K;ENSP00000412628:E74K;ENSP00000363066:E74K;ENSP00000394465:E74K	ENSP00000322604:E74K	E	-	1	0	PCDH15	55808646	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.876000	0.56115	2.504000	0.84457	0.643000	0.83706	GAA		0.428	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		53	108	0	0	0	0	53	108				
CFAP70	118491	broad.mit.edu	37	10	75035242	75035242	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:75035242C>G	ENST00000310715.3	-	23	2965	c.2845G>C	c.(2845-2847)Gag>Cag	p.E949Q	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.E949Q|TTC18_ENST00000355577.3_Missense_Mutation_p.E418Q|TTC18_ENST00000340329.3_Intron|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000401621.2_Missense_Mutation_p.E949Q	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		949						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGGTATTCCTCTGCCTTGGCA	0.473																																						uc009xrc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2845-2847)GAG>CAG		tetratricopeptide repeat domain 18							230.0	211.0	217.0					10																	75035242		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75035242C>G																												ENST00000310715.3:c.2845G>C	10.37:g.75035242C>G	ENSP00000310829:p.Glu949Gln					TTC18_uc001jty.2_Missense_Mutation_p.E949Q|TTC18_uc001jtv.3_Missense_Mutation_p.E53Q|TTC18_uc001jtw.3_Missense_Mutation_p.E53Q|TTC18_uc001jtx.2_Missense_Mutation_p.E330Q	p.E949Q	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			23	2966	-	Prostate(51;0.0119)		949			TPR 4.		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.2845G>C	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432254	0.62844	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	T;T;T;T	0.64991	-0.13;-0.13;0.16;0.16	5.87	4.97	0.65823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.192389	0.45606	D	0.000346	T	0.55924	0.1951	N	0.24115	0.695	0.41006	D	0.984967	D	0.57899	0.981	P	0.56343	0.796	T	0.52786	-0.8529	10	0.14252	T	0.57	-1.5234	8.711	0.34385	0.0:0.7695:0.1509:0.0796	.	949	Q5T0N1	TTC18_HUMAN	Q	949;949;949;356;949	ENSP00000310829:E949Q;ENSP00000384479:E949Q;ENSP00000409527:E356Q;ENSP00000378334:E949Q	ENSP00000310829:E949Q	E	-	1	0	TTC18	74705248	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.074000	0.50065	1.510000	0.48803	-0.119000	0.15052	GAG		0.473	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				76	76	0	0	0	0	76	76				
CWF19L1	55280	broad.mit.edu	37	10	101997927	101997927	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:101997927C>T	ENST00000354105.4	-	11	1192	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	CWF19L1_ENST00000370379.1_Missense_Mutation_p.G124E|SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000478047.1_5'UTR	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	369							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CTGGTAGTGTCCAATAGGCAG	0.498																																						uc001kqq.1		NA																	0					0						c.(1105-1107)GGA>GAA		CWF19-like 1, cell cycle control							214.0	195.0	201.0					10																	101997927		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:101997927C>T	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1106G>A	10.37:g.101997927C>T	ENSP00000326411:p.Gly369Glu					CWF19L1_uc001kqs.1_Missense_Mutation_p.G121E|CWF19L1_uc001kqr.1_Missense_Mutation_p.G369E|CWF19L1_uc001kqt.1_Missense_Mutation_p.G73E|CWF19L1_uc010qpn.1_Missense_Mutation_p.G232E|SNORA12_uc001kqu.1_5'Flank	p.G369E	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	11	1193	-		Colorectal(252;0.117)	369					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.1106G>A	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546359	0.86022	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.20463	2.5;2.07	5.57	4.66	0.58398	Histidine triad motif (1);Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.33624	1.015	0.80722	D	1	B;D;D	0.89917	0.067;1.0;0.988	B;D;P	0.97110	0.051;1.0;0.896	T	0.08806	-1.0704	10	0.02654	T	1	-14.0398	11.9698	0.53058	0.0:0.9163:0.0:0.0837	.	73;232;369	Q69YN2-2;Q69YN2-3;Q69YN2	.;.;C19L1_HUMAN	E	369;124	ENSP00000326411:G369E;ENSP00000359405:G124E	ENSP00000326411:G369E	G	-	2	0	CWF19L1	101987917	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	1.356000	0.45884	0.650000	0.86243	GGA		0.498	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		64	120	0	0	0	0	64	120				
CNNM2	54805	broad.mit.edu	37	10	104678631	104678631	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:104678631G>C	ENST00000369878.4	+	1	582	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	CNNM2_ENST00000433628.2_Missense_Mutation_p.E132Q|CNNM2_ENST00000369875.3_Missense_Mutation_p.E132Q	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	132					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAgcccgggggagcgcgggct	0.692																																						uc001kwm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(394-396)GAG>CAG		cyclin M2 isoform 1							14.0	17.0	16.0					10																	104678631		2094	4172	6266	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104678631G>C	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.394G>C	10.37:g.104678631G>C	ENSP00000358894:p.Glu132Gln					CNNM2_uc001kwn.2_Missense_Mutation_p.E132Q|CNNM2_uc001kwl.2_Missense_Mutation_p.E132Q	p.E132Q	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	518	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	132					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.394G>C	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	8.624	0.891988	0.17613	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.75821	-0.79;-0.97;-0.79	4.81	4.81	0.61882	.	0.509864	0.20063	N	0.100056	T	0.49864	0.1582	N	0.08118	0	0.09310	N	1	P;P;B	0.41265	0.744;0.627;0.358	B;B;B	0.35813	0.211;0.105;0.052	T	0.39860	-0.9593	10	0.16420	T	0.52	-7.9095	11.0989	0.48161	0.0862:0.0:0.9138:0.0	.	132;132;132	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	Q	132	ENSP00000392875:E132Q;ENSP00000358891:E132Q;ENSP00000358894:E132Q	ENSP00000286899:E132Q	E	+	1	0	CNNM2	104668621	0.982000	0.34865	0.999000	0.59377	0.323000	0.28346	1.355000	0.34068	2.216000	0.71823	0.561000	0.74099	GAG		0.692	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		20	19	0	0	0	0	20	19				
DMBT1	1755	broad.mit.edu	37	10	124380632	124380632	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:124380632G>T	ENST00000338354.3	+	41	5063	c.4957G>T	c.(4957-4959)Gtg>Ttg	p.V1653L	DMBT1_ENST00000330163.4_Missense_Mutation_p.V1025L|DMBT1_ENST00000344338.3_Missense_Mutation_p.V1643L|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1025L|DMBT1_ENST00000368955.3_Missense_Mutation_p.V1643L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.V1653L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1653	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCGAGGCCGAGTGGAGGTCCT	0.562																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(4957-4959)GTG>TTG		deleted in malignant brain tumors 1 isoform b							263.0	257.0	259.0					10																	124380632		2012	4189	6201	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124380632G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4957G>T	10.37:g.124380632G>T	ENSP00000342210:p.Val1653Leu					DMBT1_uc001lgl.1_Missense_Mutation_p.V1643L|DMBT1_uc001lgm.1_Missense_Mutation_p.V1025L|DMBT1_uc009xzz.1_Missense_Mutation_p.V1653L|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.V356L|DMBT1_uc009yac.1_5'UTR	p.V1653L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			41	5063	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1653			SRCR 13.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.4957G>T		.	.	.	.	.	.	.	.	.	.	-	13.72	2.321512	0.41096	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	3.79	3.79	0.43588	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.38605	U	0.001627	T	0.66915	0.2838	M	0.70275	2.135	0.80722	D	1	D;D;D;P;D	0.76494	0.996;0.999;0.988;0.465;0.998	D;D;D;B;D	0.91635	0.983;0.999;0.987;0.187;0.993	T	0.71213	-0.4659	10	0.54805	T	0.06	.	15.5889	0.76510	0.0:0.0:1.0:0.0	.	902;1782;1025;1643;1653	Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	L	1653;1782;1653;1653;1653;1653;1025;1643;1025;1025;1653;1643;1025	ENSP00000342210:V1653L;ENSP00000343175:V1643L;ENSP00000327747:V1025L;ENSP00000357905:V1653L;ENSP00000357951:V1643L;ENSP00000357952:V1025L	ENSP00000331522:V1025L	V	+	1	0	DMBT1	124370622	1.000000	0.71417	0.923000	0.36655	0.048000	0.14542	5.018000	0.64054	2.068000	0.61886	0.461000	0.40582	GTG		0.562	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		130	207	1	0	4.56e-48	5.05e-48	130	207				
OR52B2	255725	broad.mit.edu	37	11	6190885	6190885	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:6190885G>A	ENST00000530810.1	-	1	753	c.672C>T	c.(670-672)ctC>ctT	p.L224L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACTGCTCGGAGGATCAGTG	0.498																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1		NA																	0					0						c.(670-672)CTC>CTT		olfactory receptor, family 52, subfamily B,							66.0	65.0	65.0					11																	6190885		2082	4217	6299	SO:0001819	synonymous_variant	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6190885G>A	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.672C>T	11.37:g.6190885G>A							p.L224L	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	672	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	224			Cytoplasmic (Potential).		Q8NGM7	Silent	SNP	ENST00000530810.1	37	c.672C>T	CCDS53598.1																																																																																				0.498	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		15	21	0	0	0	0	15	21				
PSMA1	5682	broad.mit.edu	37	11	14632514	14632514	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:14632514T>A	ENST00000418988.2	-	2	346	c.19A>T	c.(19-21)Aag>Tag	p.K7*		NM_148976.2	NP_683877.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ATTCTCACCTTCACCTTGCTG	0.418																																						uc001mll.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(19-21)AAG>TAG		proteasome alpha 1 subunit isoform 1							130.0	115.0	120.0					11																	14632514		2200	4294	6494	SO:0001587	stop_gained	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14632514T>A	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000418988.2:c.19A>T	11.37:g.14632514T>A	ENSP00000414359:p.Lys7*						p.K7*	NM_148976	NP_683877	P25786	PSA1_HUMAN			2	364	-			Error:Variant_position_missing_in_P25786_after_alignment					A8K400|Q53YE8|Q9BRV9	Nonsense_Mutation	SNP	ENST00000418988.2	37	c.19A>T	CCDS31431.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.875551	0.51695	.	.	ENSG00000129084	ENST00000418988	.	.	.	2.96	-1.08	0.09936	.	0.757963	0.11410	N	0.566912	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	3.0763	0.06247	0.0:0.2725:0.2274:0.5001	.	.	.	.	X	7	.	ENSP00000414359:K7X	K	-	1	0	PSMA1	14589090	0.000000	0.05858	0.002000	0.10522	0.205000	0.24178	0.197000	0.17197	-0.211000	0.10124	0.379000	0.24179	AAG		0.418	PSMA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386422.2	NM_002786		7	17	0	0	0	0	7	17				
KCNC1	3746	broad.mit.edu	37	11	17793798	17793798	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:17793798A>G	ENST00000379472.3	+	2	1187	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	KCNC1_ENST00000265969.6_Missense_Mutation_p.N386S	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	386					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)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CACTTTAAGAACATCCCCATC	0.617																																						uc001mnk.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(1156-1158)AAC>AGC		Shaw-related voltage-gated potassium channel							86.0	83.0	84.0					11																	17793798		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793798A>G	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1157A>G	11.37:g.17793798A>G	ENSP00000368785:p.Asn386Ser					KCNC1_uc009yhc.1_Missense_Mutation_p.N386S	p.N386S	NM_004976	NP_004967	P48547	KCNC1_HUMAN			2	1212	+			386					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.1157A>G	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	A	8.247	0.808135	0.16467	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.96885	-4.16;-4.16	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92221	0.7533	N	0.01284	-0.91	0.80722	D	1	B;D	0.76494	0.356;0.999	B;D	0.91635	0.22;0.999	D	0.88832	0.3306	10	0.02654	T	1	.	14.9882	0.71365	1.0:0.0:0.0:0.0	.	386;386	Q3KNS8;P48547	.;KCNC1_HUMAN	S	386	ENSP00000265969:N386S;ENSP00000368785:N386S	ENSP00000265969:N386S	N	+	2	0	KCNC1	17750374	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.943000	0.56356	0.459000	0.35465	AAC		0.617	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		29	50	0	0	0	0	29	50				
GTF2H1	2965	broad.mit.edu	37	11	18359808	18359808	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:18359808C>G	ENST00000265963.4	+	4	660	c.500C>G	c.(499-501)tCt>tGt	p.S167C	GTF2H1_ENST00000453096.2_Missense_Mutation_p.S167C|GTF2H1_ENST00000534641.1_Missense_Mutation_p.S51C|GTF2H1_ENST00000524753.4_5'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	167					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GTTGGCATTTCTGCTGCATTT	0.368								Nucleotide excision repair (NER)																														uc001moi.2		NA																	0					0						c.(499-501)TCT>TGT	NER	general transcription factor IIH, polypeptide 1,							146.0	134.0	138.0					11																	18359808		2199	4293	6492	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18359808C>G		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.500C>G	11.37:g.18359808C>G	ENSP00000265963:p.Ser167Cys					GTF2H1_uc001moh.2_Missense_Mutation_p.S167C|GTF2H1_uc009yhm.2_Missense_Mutation_p.S51C	p.S167C	NM_001142307	NP_001135779	P32780	TF2H1_HUMAN			5	1194	+			167					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.500C>G	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661982	0.88251	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963	T;T;T	0.27557	1.66;1.67;1.66	5.66	5.66	0.87406	.	0.092545	0.85682	D	0.000000	T	0.60919	0.2306	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.63625	-0.6595	10	0.66056	D	0.02	-4.9515	19.805	0.96527	0.0:1.0:0.0:0.0	.	167	P32780	TF2H1_HUMAN	C	167;51;167	ENSP00000393638:S167C;ENSP00000435375:S51C;ENSP00000265963:S167C	ENSP00000265963:S167C	S	+	2	0	GTF2H1	18316384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.404000	0.79996	2.692000	0.91855	0.650000	0.86243	TCT		0.368	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		52	64	0	0	0	0	52	64				
NPAS4	266743	broad.mit.edu	37	11	66191925	66191925	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:66191925C>T	ENST00000311034.2	+	7	1740	c.1564C>T	c.(1564-1566)Cct>Tct	p.P522S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	522					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTTCCCAGAGCCTCTGGGCAG	0.597																																						uc001ohx.1		NA																	0					0						c.(1564-1566)CCT>TCT		neuronal PAS domain protein 4							159.0	165.0	163.0					11																	66191925		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191925C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1564C>T	11.37:g.66191925C>T	ENSP00000311196:p.Pro522Ser					NPAS4_uc010rpc.1_Missense_Mutation_p.P312S	p.P522S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1740	+			522					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1564C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367483	0.24771	.	.	ENSG00000174576	ENST00000311034	T	0.43294	0.95	4.56	3.64	0.41730	.	0.277559	0.26915	N	0.021849	T	0.21550	0.0519	N	0.08118	0	0.36070	D	0.842065	B	0.02656	0.0	B	0.01281	0.0	T	0.13176	-1.0519	10	0.23891	T	0.37	-1.6479	10.5246	0.44941	0.0:0.804:0.196:0.0	.	522	Q8IUM7	NPAS4_HUMAN	S	522	ENSP00000311196:P522S	ENSP00000311196:P522S	P	+	1	0	NPAS4	65948501	0.493000	0.26035	1.000000	0.80357	0.995000	0.86356	0.682000	0.25335	1.130000	0.42092	0.563000	0.77884	CCT		0.597	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		6	216	0	0	0	0	6	216				
PGR	5241	broad.mit.edu	37	11	100999748	100999748	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:100999748C>T	ENST00000325455.5	-	1	1507	c.54G>A	c.(52-54)ccG>ccA	p.P18P	PGR_ENST00000263463.5_Silent_p.P18P|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	18	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CGGGGGAGGGCGGGCCGCCCG	0.682																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2		NA																	0				lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(52-54)CCG>CCA		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						5.0	6.0	5.0					11																	100999748		2057	4041	6098	SO:0001819	synonymous_variant	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100999748C>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.54G>A	11.37:g.100999748C>T						PGR_uc001pgi.2_Silent_p.P18P|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	p.P18P	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	797	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	18			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	c.54G>A	CCDS8310.1																																																																																				0.682	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			6	0	0	0	0	0	6	0				
KCNA6	3742	broad.mit.edu	37	12	4919430	4919430	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:4919430C>T	ENST00000280684.3	+	1	1089	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	KCNA6_ENST00000433855.1_Missense_Mutation_p.R75C|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	75					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)	CCGGCGAGTCCGCTTCTTCGA	0.632										HNSCC(72;0.22)																												uc001qng.2		NA																	0				skin(2)|ovary(1)	3						c.(223-225)CGC>TGC		potassium voltage-gated channel, shaker-related							48.0	50.0	49.0					12																	4919430		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919430C>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.223C>T	12.37:g.4919430C>T	ENSP00000280684:p.Arg75Cys	HNSCC(72;0.22)					p.R75C	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	1089	+			75						Missense_Mutation	SNP	ENST00000280684.3	37	c.223C>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017821	0.75161	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.77358	-1.09;-1.09	4.57	4.57	0.56435	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.111377	0.64402	D	0.000007	D	0.89291	0.6673	M	0.88031	2.925	0.58432	D	0.999999	D	0.89917	1.0	D	0.69654	0.965	D	0.91626	0.5315	10	0.87932	D	0	.	16.5124	0.84289	0.0:1.0:0.0:0.0	.	75	P17658	KCNA6_HUMAN	C	75	ENSP00000408321:R75C;ENSP00000280684:R75C	ENSP00000280684:R75C	R	+	1	0	KCNA6	4789691	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.804000	0.55568	2.363000	0.80096	0.462000	0.41574	CGC		0.632	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		30	29	0	0	0	0	30	29				
BICD1	636	broad.mit.edu	37	12	32458713	32458713	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:32458713T>A	ENST00000281474.5	+	4	765	c.662T>A	c.(661-663)aTc>aAc	p.I221N	BICD1_ENST00000548411.1_Missense_Mutation_p.I221N	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	221					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GAAGATGCCATCCGATTGAAA	0.463																																						uc001rku.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(661-663)ATC>AAC		bicaudal D homolog 1 isoform 1							64.0	59.0	61.0					12																	32458713		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32458713T>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.662T>A	12.37:g.32458713T>A	ENSP00000281474:p.Ile221Asn					BICD1_uc001rkv.2_Missense_Mutation_p.I221N|BICD1_uc010skd.1_RNA	p.I221N	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		4	743	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		221			Potential.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.662T>A	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420565	0.42918	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.31769	1.48;1.48	4.33	3.16	0.36331	.	0.585591	0.17185	N	0.183755	T	0.24275	0.0588	L	0.48877	1.53	0.80722	D	1	B;B	0.27316	0.145;0.175	B;B	0.27076	0.074;0.076	T	0.03043	-1.1079	10	0.17832	T	0.49	.	8.8506	0.35196	0.0:0.0956:0.0:0.9044	.	221;221	F8W113;Q96G01	.;BICD1_HUMAN	N	221	ENSP00000446793:I221N;ENSP00000281474:I221N	ENSP00000281474:I221N	I	+	2	0	BICD1	32349980	1.000000	0.71417	0.802000	0.32245	0.977000	0.68977	3.882000	0.56160	0.812000	0.34326	0.529000	0.55759	ATC		0.463	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		16	27	0	0	0	0	16	27				
PPHLN1	51535	broad.mit.edu	37	12	42745801	42745801	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:42745801G>A	ENST00000395568.2	+	3	271	c.187G>A	c.(187-189)Gag>Aag	p.E63K	PPHLN1_ENST00000395580.3_Missense_Mutation_p.E70K|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000358314.7_Missense_Mutation_p.E63K|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000449194.2_Missense_Mutation_p.E63K|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.E81K|PPHLN1_ENST00000317560.9_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	63					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AGACTATGACGAGGGCCGCAG	0.393																																						uc001rng.1		NA																	0				ovary(1)|breast(1)	2						c.(187-189)GAG>AAG		periphilin 1 isoform 1							96.0	90.0	92.0					12																	42745801		2203	4300	6503	SO:0001583	missense	51535				keratinization	cytoplasm|nucleus		g.chr12:42745801G>A	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.187G>A	12.37:g.42745801G>A	ENSP00000378935:p.Glu63Lys					PPHLN1_uc001rmy.2_Missense_Mutation_p.E81K|PPHLN1_uc001rna.2_Intron|PPHLN1_uc001rne.2_Missense_Mutation_p.E70K|PPHLN1_uc001rnb.2_Missense_Mutation_p.E70K|PPHLN1_uc001rnd.2_Intron|PPHLN1_uc001rnc.2_Missense_Mutation_p.E63K|PPHLN1_uc001rnf.2_Missense_Mutation_p.E63K|PPHLN1_uc010skq.1_Intron|PPHLN1_uc010skr.1_Intron|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Intron|PPHLN1_uc001rnh.1_Intron|PPHLN1_uc010sku.1_Intron	p.E63K	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	3	292	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	63					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	c.187G>A	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197782	0.79015	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000546750;ENST00000547847	.	.	.	6.17	5.29	0.74685	.	0.063660	0.64402	D	0.000008	T	0.48892	0.1525	M	0.64997	1.995	0.80722	D	1	P;B;B;B;B	0.40360	0.714;0.083;0.218;0.218;0.332	B;B;B;B;B	0.23852	0.033;0.007;0.049;0.049;0.049	T	0.56535	-0.7963	9	0.62326	D	0.03	-5.1306	12.8373	0.57780	0.0743:0.0:0.9257:0.0	.	63;63;63;70;81	Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-2;F8W0Q9	PPHLN_HUMAN;.;.;.;.	K	81;70;63;63;63;70;63	.	ENSP00000351066:E63K	E	+	1	0	PPHLN1	41032068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.153000	0.71819	1.627000	0.50400	0.655000	0.94253	GAG		0.393	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		23	18	0	0	0	0	23	18				
KMT2D	8085	broad.mit.edu	37	12	49436602	49436602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:49436602C>A	ENST00000301067.7	-	26	5703	c.5704G>T	c.(5704-5706)Gaa>Taa	p.E1902*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1902					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)										TGTTCTCGTTCAGAGCCCAGA	0.547																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(5704-5706)GAA>TAA		myeloid/lymphoid or mixed-lineage leukemia 2							98.0	96.0	97.0					12																	49436602		2029	4191	6220	SO:0001587	stop_gained	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.chr12:49436602C>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.5704G>T	12.37:g.49436602C>A	ENSP00000301067:p.Glu1902*	HNSCC(34;0.089)					p.E1902*	NM_003482	NP_003473	O14686	MLL2_HUMAN			26	5704	-			1902					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.5704G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	45	11.443795	0.99562	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.51	5.51	0.81932	.	0.000000	0.37906	N	0.001886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1887	0.89800	0.0:1.0:0.0:0.0	.	.	.	.	X	1902	.	ENSP00000301067:E1902X	E	-	1	0	MLL2	47722869	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	4.237000	0.58681	2.584000	0.87258	0.561000	0.74099	GAA		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			36	37	1	0	1.37e-20	1.5e-20	36	37				
KRT73	319101	broad.mit.edu	37	12	53005099	53005099	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:53005099C>G	ENST00000305748.3	-	6	1033	c.999G>C	c.(997-999)caG>caC	p.Q333H	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	333	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGCTGCTAGCTGCAGCTCCT	0.547																																						uc001sas.2		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(997-999)CAG>CAC		keratin 73							95.0	86.0	89.0					12																	53005099		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53005099C>G	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.999G>C	12.37:g.53005099C>G	ENSP00000307014:p.Gln333His						p.Q333H	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1034	-			333			Rod.|Coil 2.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.999G>C	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004387	0.74932	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;T	0.89552	-2.53;-1.21	5.61	5.61	0.85477	Filament (1);	0.129548	0.35013	N	0.003517	D	0.97021	0.9027	H	0.97940	4.11	0.43259	D	0.99519	D	0.89917	1.0	D	0.97110	1.0	D	0.97919	1.0313	10	0.87932	D	0	.	20.0114	0.97452	0.0:1.0:0.0:0.0	.	333	Q86Y46	K2C73_HUMAN	H	333;78	ENSP00000307014:Q333H;ENSP00000449081:Q78H	ENSP00000307014:Q333H	Q	-	3	2	KRT73	51291366	0.937000	0.31787	1.000000	0.80357	0.888000	0.51559	2.314000	0.43743	2.821000	0.97095	0.555000	0.69702	CAG		0.547	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		25	27	0	0	0	0	25	27				
ACADS	35	broad.mit.edu	37	12	121175211	121175211	+	Missense_Mutation	SNP	C	C	T	rs17848085	byFrequency	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:121175211C>T	ENST00000242592.4	+	4	564	c.413C>T	c.(412-414)gCg>gTg	p.A138V	ACADS_ENST00000411593.2_Missense_Mutation_p.A138V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	138					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CAGAAGCAGGCGTGGGTCACG	0.622													A|||	3	0.000599042	0.0	0.0029	5008	,	,		19562	0.001		0.0	False		,,,				2504	0.0					uc001tza.3		NA																	0				central_nervous_system(2)	2						c.(412-414)GCG>GTG		short-chain acyl-CoA dehydrogenase precursor	NADH(DB00157)						79.0	72.0	75.0					12																	121175211		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121175211C>T	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.413C>T	12.37:g.121175211C>T	ENSP00000242592:p.Ala138Val					ACADS_uc010szl.1_Missense_Mutation_p.A138V|ACADS_uc001tzb.3_Missense_Mutation_p.A65V	p.A138V	NM_000017	NP_000008	P16219	ACADS_HUMAN			4	531	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	138					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.413C>T	CCDS9207.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	27.2	4.811577	0.90707	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.99719	-6.52;-6.52	4.95	1.12	0.20585	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.398744	0.27797	N	0.017807	D	0.98118	0.9379	L	0.58510	1.815	0.09310	N	0.999996	P;B;B	0.34800	0.469;0.137;0.137	B;B;B	0.25405	0.06;0.037;0.037	D	0.96749	0.9552	10	0.87932	D	0	.	2.8142	0.05451	0.6266:0.1227:0.1332:0.1175	rs17848085	138;138;138	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	V	138	ENSP00000242592:A138V;ENSP00000401045:A138V	ENSP00000242592:A138V	A	+	2	0	ACADS	119659594	0.993000	0.37304	0.071000	0.20095	0.821000	0.46438	2.986000	0.49370	-0.255000	0.09486	-0.362000	0.07510	GCG		0.622	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		18	31	0	0	0	0	18	31				
PSPC1	55269	broad.mit.edu	37	13	20277482	20277482	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr13:20277482G>C	ENST00000338910.4	-	9	1564	c.1405C>G	c.(1405-1407)Caa>Gaa	p.Q469E		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	469	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGTGGTCCTTGAGGAAATCTG	0.438																																						uc001uml.2		NA																	0				breast(1)	1						c.(1405-1407)CAA>GAA		paraspeckle protein 1							16.0	18.0	18.0					13																	20277482		1800	4049	5849	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20277482G>C	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1405C>G	13.37:g.20277482G>C	ENSP00000343966:p.Gln469Glu					PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron	p.Q469E	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	9	1591	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	469			Gly-rich.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.1405C>G	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	G	6.502	0.460745	0.12342	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.14766	2.48	5.4	4.56	0.56223	.	0.115070	0.64402	D	0.000011	T	0.19046	0.0457	L	0.33485	1.01	0.40507	D	0.980708	P	0.40332	0.713	P	0.48654	0.585	T	0.02263	-1.1186	10	0.44086	T	0.13	-17.0404	15.694	0.77481	0.0:0.0:0.862:0.138	.	469	Q8WXF1	PSPC1_HUMAN	E	469;409	ENSP00000343966:Q469E	ENSP00000343966:Q469E	Q	-	1	0	PSPC1	19175482	1.000000	0.71417	0.858000	0.33744	0.354000	0.29330	4.437000	0.59955	1.287000	0.44583	-0.348000	0.07805	CAA		0.438	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			11	21	0	0	0	0	11	21				
N4BP2L1	90634	broad.mit.edu	37	13	32972674	32972674	+	IGR	SNP	G	G	A	rs28897761		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr13:32972674G>A	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.E3342K|BRCA2_ENST00000544455.1_Missense_Mutation_p.E3342K	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AATAGCTGACGAAGAACTTGC	0.358																																						uc001uub.1		NA								D|Mis|N|F|S						breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(10024-10026)GAA>AAA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							54.0	58.0	56.0					13																	32972674		2203	4300	6503	SO:0001628	intergenic_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972674G>A	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972674G>A		TCGA Ovarian(8;0.087)					p.E3342K	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10251	+		Lung SC(185;0.0262)	3342					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.10024G>A	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	G	33	5.258010	0.95368	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.02103	4.45;4.45	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.14184	0.0343	M	0.76328	2.33	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.00031	-1.2279	10	0.87932	D	0	.	19.8745	0.96864	0.0:0.0:1.0:0.0	rs28897761	3342	P51587	BRCA2_HUMAN	K	3342	ENSP00000369497:E3342K;ENSP00000439902:E3342K	ENSP00000369497:E3342K	E	+	1	0	BRCA2	31870674	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.778000	0.75043	2.704000	0.92352	0.467000	0.42956	GAA		0.358	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		10	27	0	0	0	0	10	27				
ZIC2	7546	broad.mit.edu	37	13	100635350	100635350	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr13:100635350C>T	ENST00000376335.3	+	1	1325	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	344					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAAGTCTTCGCGCGCTCCG	0.617																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2		NA																	0					0						c.(1030-1032)TTC>TTT		zinc finger protein of the cerebellum 2							60.0	67.0	65.0					13																	100635350		2203	4300	6503	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635350C>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1032C>T	13.37:g.100635350C>T							p.F344F	NM_007129	NP_009060	O95409	ZIC2_HUMAN			1	1032	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		344			C2H2-type 3.		Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.1032C>T	CCDS9495.1																																																																																				0.617	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		27	41	0	0	0	0	27	41				
EDDM3A	10876	broad.mit.edu	37	14	21216174	21216174	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:21216174C>T	ENST00000326842.2	+	2	562	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	145					sperm displacement (GO:0007321)	extracellular space (GO:0005615)				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TAGAACCTATCAGCAACTAGA	0.453																																						uc001vyb.2		NA																	0					0						c.(433-435)ATC>ATT		human epididymis-specific 3 alpha precursor							62.0	57.0	59.0					14																	21216174		2203	4300	6503	SO:0001819	synonymous_variant	10876				sperm displacement	extracellular space		g.chr14:21216174C>T	X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"""family with sequence similarity 12, member A"""	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.435C>T	14.37:g.21216174C>T						EDDM3A_uc001vyc.2_Silent_p.I145I	p.I145I	NM_006683	NP_006674	Q14507	EP3A_HUMAN			2	502	+			145					Q4KN33	Silent	SNP	ENST00000326842.2	37	c.435C>T	CCDS9556.1																																																																																				0.453	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3			22	24	0	0	0	0	22	24				
FSCB	84075	broad.mit.edu	37	14	44975037	44975037	+	Missense_Mutation	SNP	C	C	T	rs138964489	byFrequency	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:44975037C>T	ENST00000340446.4	-	1	1445	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	385	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAGGGAGACCGAATTTCACC	0.527																																						uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1153-1155)CGG>CAG		fibrous sheath CABYR binding protein		C	GLN/ARG	0,4406		0,0,2203	82.0	94.0	90.0		1154	-6.9	0.0	14	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FSCB	NM_032135.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	385/826	44975037	1,13005	2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975037C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1154G>A	14.37:g.44975037C>T	ENSP00000344579:p.Arg385Gln						p.R385Q	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1463	-			385			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1154G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	c	2.193	-0.384832	0.04966	0.0	1.16E-4	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15487	2.42	4.22	-6.91	0.01649	.	.	.	.	.	T	0.03178	0.0093	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38243	-0.9670	9	0.12430	T	0.62	1.6803	0.4678	0.00527	0.2636:0.2562:0.1268:0.3534	.	385	Q5H9T9	FSCB_HUMAN	Q	385	ENSP00000344579:R385Q	ENSP00000344579:R385Q	R	-	2	0	FSCB	44044787	0.007000	0.16637	0.000000	0.03702	0.004000	0.04260	0.419000	0.21247	-0.922000	0.03789	-1.033000	0.02402	CGG		0.527	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		44	77	0	0	0	0	44	77				
MAP3K9	4293	broad.mit.edu	37	14	71267584	71267584	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:71267584C>T	ENST00000554752.2	-	2	619	c.620G>A	c.(619-621)aGa>aAa	p.R207K	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R207K|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R207K	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACATACCCCTCTTAGGGCAAT	0.532																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.2		NA																	0				stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(619-621)AGA>AAA		mitogen-activated protein kinase kinase kinase							124.0	110.0	115.0					14																	71267584		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71267584C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.620G>A	14.37:g.71267584C>T	ENSP00000451612:p.Arg207Lys					MAP3K9_uc001xml.2_Missense_Mutation_p.R207K	p.R207K	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	2	620	-			207			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.620G>A		.	.	.	.	.	.	.	.	.	.	C	11.07	1.531741	0.27387	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	D;D	0.88896	-2.44;-2.44	6.17	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.055232	0.64402	D	0.000001	T	0.73048	0.3537	N	0.04260	-0.245	0.23162	N	0.998194	B;B	0.09022	0.002;0.001	B;B	0.17979	0.02;0.011	T	0.54682	-0.8257	10	0.02654	T	1	.	11.8852	0.52598	0.0:0.811:0.1238:0.0652	.	207;207	P80192;P80192-4	M3K9_HUMAN;.	K	207	ENSP00000451612:R207K;ENSP00000370649:R207K	ENSP00000005198:R207K	R	-	2	0	MAP3K9	70337337	0.012000	0.17670	0.400000	0.26346	0.930000	0.56654	1.390000	0.34464	1.616000	0.50265	0.655000	0.94253	AGA		0.532	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			41	49	0	0	0	0	41	49				
DNAL1	83544	broad.mit.edu	37	14	74125657	74125657	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:74125657C>T	ENST00000553645.2	+	3	191	c.150C>T	c.(148-150)tgC>tgT	p.C50C	DNAL1_ENST00000540526.1_Silent_p.C11C|RNU6-240P_ENST00000516098.1_RNA|DNAL1_ENST00000554871.1_Silent_p.C11C|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000311089.3_Intron	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	50										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		TTGCTAATTGCGAGTAAGTTC	0.403																																						uc001xoq.3		NA																	0					0						c.(148-150)TGC>TGT		axonemal dynein light chain 1							275.0	277.0	276.0					14																	74125657		1881	4109	5990	SO:0001819	synonymous_variant	83544							g.chr14:74125657C>T	BC005343	CCDS45134.1, CCDS55928.1	14q24.3	2012-05-03	2006-09-04	2006-09-04	ENSG00000119661	ENSG00000119661			23247	protein-coding gene	gene with protein product		610062	"""chromosome 14 open reading frame 168"""	C14orf168		15845866	Standard	NM_031427		Approved	MGC12435, 1700010H15RiK, CILD16	uc001xoq.4	Q4LDG9		ENST00000553645.2:c.150C>T	14.37:g.74125657C>T						DNAL1_uc010aru.2_Silent_p.C11C|DNAL1_uc010arv.2_Intron	p.C50C	NM_031427	NP_113615	Q4LDG9	DNAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)	3	315	+			50			LRR 1.		B2RD38|Q5JPB7|Q9BS43	Silent	SNP	ENST00000553645.2	37	c.150C>T	CCDS45134.1																																																																																				0.403	DNAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414565.2	NM_031427		122	183	0	0	0	0	122	183				
DYNC1H1	1778	broad.mit.edu	37	14	102509067	102509067	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:102509067C>T	ENST00000360184.4	+	69	12659	c.12495C>T	c.(12493-12495)ccC>ccT	p.P4165P	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4165	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAGCATTCCCGTCTCACGGA	0.557																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(12493-12495)CCC>CCT		cytoplasmic dynein 1 heavy chain 1							106.0	80.0	89.0					14																	102509067		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102509067C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12495C>T	14.37:g.102509067C>T							p.P4165P	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			69	12659	+			4165			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.12495C>T	CCDS9966.1																																																																																				0.557	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		13	14	0	0	0	0	13	14				
EIF2AK4	440275	broad.mit.edu	37	15	40259747	40259747	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr15:40259747C>T	ENST00000263791.5	+	9	1263	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.A407V|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.A407V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	407	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGGTACACAGCTCAGCTCCTG	0.532																																						uc001zkm.1		NA																	0				lung(2)|stomach(1)|skin(1)	4						c.(1219-1221)GCT>GTT		eukaryotic translation initiation factor 2 alpha							86.0	86.0	86.0					15																	40259747		2055	4204	6259	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40259747C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1220C>T	15.37:g.40259747C>T	ENSP00000263791:p.Ala407Val					EIF2AK4_uc001zkl.2_Missense_Mutation_p.A407V|EIF2AK4_uc010bbj.1_Missense_Mutation_p.A136V	p.A407V	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	9	1270	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	407			Protein kinase 1.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.1220C>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523709	0.44866	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.73897	-0.79;-0.79	5.36	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.506259	0.21363	N	0.075761	T	0.53610	0.1807	N	0.20357	0.565	0.27257	N	0.958728	B;P	0.43826	0.437;0.818	B;B	0.33690	0.168;0.153	T	0.47315	-0.9127	10	0.30078	T	0.28	-1.4822	10.3433	0.43891	0.0:0.6735:0.2557:0.0707	.	407;407	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	V	407	ENSP00000263791:A407V;ENSP00000372174:A407V	ENSP00000263791:A407V	A	+	2	0	EIF2AK4	38047039	0.100000	0.21855	0.276000	0.24689	0.933000	0.57130	3.227000	0.51262	1.316000	0.45131	0.655000	0.94253	GCT		0.532	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			26	36	0	0	0	0	26	36				
C15orf59	388135	broad.mit.edu	37	15	74043429	74043429	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr15:74043429C>T	ENST00000569673.1	-	2	1247	c.43G>A	c.(43-45)Gac>Aac	p.D15N	C15orf59_ENST00000379822.4_Missense_Mutation_p.D15N			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	15										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTGCTGGGGTCGTCACTGGGC	0.652																																						uc002avy.2		NA																	0				pancreas(1)	1						c.(43-45)GAC>AAC		hypothetical protein LOC388135							67.0	59.0	62.0					15																	74043429		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74043429C>T		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.43G>A	15.37:g.74043429C>T	ENSP00000457205:p.Asp15Asn						p.D15N	NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN			1	388	-			15						Missense_Mutation	SNP	ENST00000569673.1	37	c.43G>A	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	C	9.365	1.068891	0.20147	.	.	ENSG00000205363	ENST00000379822	.	.	.	4.82	2.65	0.31530	.	0.343317	0.28659	N	0.014580	T	0.14270	0.0345	N	0.03608	-0.345	0.32590	N	0.527268	B	0.10296	0.003	B	0.04013	0.001	T	0.12578	-1.0542	9	0.11485	T	0.65	.	3.0516	0.06171	0.0:0.4765:0.2316:0.2919	.	15	Q2T9L4	CO059_HUMAN	N	15	.	ENSP00000369150:D15N	D	-	1	0	C15orf59	71830482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.664000	0.25068	1.027000	0.39758	0.561000	0.74099	GAC		0.652	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		34	49	0	0	0	0	34	49				
SOX8	30812	broad.mit.edu	37	16	1035131	1035131	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:1035131C>T	ENST00000293894.3	+	3	1201	c.1086C>T	c.(1084-1086)agC>agT	p.S362S		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	362					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GTTCCTGCAGCGGCCAGTCCA	0.736																																						uc002ckn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1084-1086)AGC>AGT		SRY (sex determining region Y)-box 8							4.0	6.0	5.0					16																	1035131		1819	3648	5467	SO:0001819	synonymous_variant	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1035131C>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.1086C>T	16.37:g.1035131C>T							p.S362S	NM_014587	NP_055402	P57073	SOX8_HUMAN			3	1201	+		Hepatocellular(780;0.00308)	362					Q9NZW2	Silent	SNP	ENST00000293894.3	37	c.1086C>T	CCDS10428.1																																																																																				0.736	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			4	1	0	0	0	0	4	1				
NLRC5	84166	broad.mit.edu	37	16	57063689	57063689	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:57063689C>T	ENST00000262510.6	+	9	2473	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	NLRC5_ENST00000436936.1_Missense_Mutation_p.R750W|NLRC5_ENST00000539144.1_Missense_Mutation_p.R750W|NLRC5_ENST00000308149.7_Missense_Mutation_p.R750W	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	750					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCGCAGTTTTCGGGACAACCA	0.582																																						uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(2248-2250)CGG>TGG		nucleotide-binding oligomerization domains 27							86.0	63.0	71.0					16																	57063689		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57063689C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2248C>T	16.37:g.57063689C>T	ENSP00000262510:p.Arg750Trp					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Missense_Mutation_p.R555W|NLRC5_uc002ekm.2_Missense_Mutation_p.R555W|NLRC5_uc010ccr.1_RNA	p.R750W	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			9	2473	+		all_neural(199;0.225)	750			LRR 3.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.2248C>T	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.06|19.06	3.753328|3.753328	0.69648|0.69648	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110|ENST00000538805	T;T;T;T;T|.	0.54279|.	0.58;0.58;0.58;0.58;0.58|.	5.12|5.12	4.15|4.15	0.48705|0.48705	.|.	0.811378|.	0.10087|.	N|.	0.717684|.	T|T	0.33818|0.33818	0.0876|0.0876	N|N	0.25485|0.25485	0.75|0.75	0.21445|0.21445	N|N	0.999688|0.999688	D;D;B|.	0.61697|.	0.99;0.976;0.21|.	P;B;B|.	0.54924|.	0.764;0.279;0.099|.	T|T	0.19095|0.19095	-1.0316|-1.0316	10|5	0.72032|.	D|.	0.01|.	.|.	10.859|10.859	0.46815|0.46815	0.1883:0.8116:0.0:0.0|0.1883:0.8116:0.0:0.0	.|.	750;750;750|.	Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;NLRC5_HUMAN|.	W|L	750;750;750;224;750;257|502	ENSP00000262510:R750W;ENSP00000308886:R750W;ENSP00000389739:R750W;ENSP00000441727:R750W;ENSP00000441597:R257W|.	ENSP00000262510:R750W|.	R|S	+|+	1|2	2|0	NLRC5|NLRC5	55621190|55621190	0.995000|0.995000	0.38212|0.38212	0.029000|0.029000	0.17559|0.17559	0.858000|0.858000	0.48976|0.48976	2.316000|2.316000	0.43761|0.43761	1.110000|1.110000	0.41699|0.41699	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.582	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		8	8	0	0	0	0	8	8				
GFOD2	81577	broad.mit.edu	37	16	67709163	67709163	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:67709163G>C	ENST00000268797.7	-	3	1398	c.1053C>G	c.(1051-1053)atC>atG	p.I351M	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	351					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCGACCTCTTGATGGCATCCA	0.657																																						uc002eub.2		NA																	0				ovary(2)|skin(1)	3						c.(1051-1053)ATC>ATG		glucose-fructose oxidoreductase domain							116.0	102.0	107.0					16																	67709163		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709163G>C	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.1053C>G	16.37:g.67709163G>C	ENSP00000268797:p.Ile351Met					GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.I246M	p.I351M	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	1348	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	351					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.1053C>G	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168434	0.57584	.	.	ENSG00000141098	ENST00000268797	T	0.53423	0.62	5.28	-0.225	0.13111	.	0.053821	0.85682	D	0.000000	T	0.50633	0.1627	L	0.52759	1.655	0.53688	D	0.999971	D	0.56746	0.977	P	0.62491	0.903	T	0.46569	-0.9182	10	0.59425	D	0.04	-36.6385	4.372	0.11253	0.3521:0.0:0.4138:0.2341	.	351	Q3B7J2	GFOD2_HUMAN	M	351	ENSP00000268797:I351M	ENSP00000268797:I351M	I	-	3	3	GFOD2	66266664	0.998000	0.40836	0.994000	0.49952	0.806000	0.45545	0.379000	0.20585	-0.174000	0.10743	0.557000	0.71058	ATC		0.657	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		35	15	0	0	0	0	35	15				
MBTPS1	8720	broad.mit.edu	37	16	84132744	84132744	+	Missense_Mutation	SNP	G	G	A	rs377692604		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:84132744G>A	ENST00000343411.3	-	3	830	c.335C>T	c.(334-336)gCg>gTg	p.A112V		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	112					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.A112V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAGCAGCCCCGCTTTCTGTTT	0.423																																						uc002fhi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(334-336)GCG>GTG		membrane-bound transcription factor site-1		G	VAL/ALA	0,4400		0,0,2200	191.0	178.0	182.0		335	0.1	0.2	16		182	1,8599	1.2+/-3.3	0,1,4299	no	missense	MBTPS1	NM_003791.2	64	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	112/1053	84132744	1,12999	2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84132744G>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.335C>T	16.37:g.84132744G>A	ENSP00000344223:p.Ala112Val						p.A112V	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			3	837	-			112					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.335C>T	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	9.397	1.077113	0.20227	0.0	1.16E-4	ENSG00000140943	ENST00000343411	T	0.31510	1.49	5.61	0.142	0.14816	.	0.490245	0.24820	N	0.035330	T	0.18045	0.0433	L	0.36672	1.1	0.09310	N	1	B	0.20887	0.049	B	0.15870	0.014	T	0.14062	-1.0486	10	0.30078	T	0.28	-8.6982	4.727	0.12946	0.4016:0.0:0.384:0.2143	.	112	Q14703	MBTP1_HUMAN	V	112	ENSP00000344223:A112V	ENSP00000344223:A112V	A	-	2	0	MBTPS1	82690245	0.131000	0.22433	0.173000	0.22940	0.633000	0.38033	1.953000	0.40352	-0.178000	0.10672	-0.133000	0.14855	GCG		0.423	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		9	53	0	0	0	0	9	53				
MYH2	4620	broad.mit.edu	37	17	10424679	10424679	+	Missense_Mutation	SNP	C	C	T	rs201882457		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:10424679C>T	ENST00000245503.5	-	40	6128	c.5744G>A	c.(5743-5745)cGg>cAg	p.R1915Q	MYH2_ENST00000397183.2_Missense_Mutation_p.R1915Q|CTC-297N7.11_ENST00000587182.2_RNA|MYH1_ENST00000226207.5_5'Flank|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.R682Q|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1915					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AATGTCAGCCCGTTCCTCGGC	0.488																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5743-5745)CGG>CAG		myosin heavy chain IIa							163.0	158.0	159.0					17																	10424679		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10424679C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5744G>A	17.37:g.10424679C>T	ENSP00000245503:p.Arg1915Gln					uc002gml.1_Intron|MYH1_uc002gmo.2_5'Flank|MYH2_uc002gmp.3_Missense_Mutation_p.R1915Q|MYH2_uc010coj.2_Missense_Mutation_p.R682Q	p.R1915Q	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			40	5872	-			1915			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5744G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	36	5.933600	0.97122	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;D;D	0.83250	1.87;-1.7;-1.7	5.55	5.55	0.83447	Myosin tail (1);	0.000000	0.35555	U	0.003128	D	0.94450	0.8214	H	0.96460	3.825	0.51233	D	0.99991	D;D	0.89917	0.997;1.0	D;D	0.91635	0.968;0.999	D	0.95446	0.8530	10	0.87932	D	0	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	682;1915	Q567P6;Q9UKX2	.;MYH2_HUMAN	Q	682;1915;1915	ENSP00000433944:R682Q;ENSP00000245503:R1915Q;ENSP00000380367:R1915Q	ENSP00000245503:R1915Q	R	-	2	0	MYH2	10365404	0.997000	0.39634	0.924000	0.36721	0.988000	0.76386	7.651000	0.83577	2.894000	0.99253	0.591000	0.81541	CGG		0.488	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		56	115	0	0	0	0	56	115				
PIPOX	51268	broad.mit.edu	37	17	27382170	27382170	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:27382170C>A	ENST00000323372.4	+	6	1223	c.897C>A	c.(895-897)agC>agA	p.S299R	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	299					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	AGATCCTGAGCAGCTTTGTCA	0.602																																						uc002hdr.1		NA																	0					0						c.(895-897)AGC>AGA		pipecolic acid oxidase	Glycine(DB00145)						173.0	146.0	155.0					17																	27382170		2203	4300	6503	SO:0001583	missense	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27382170C>A	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.897C>A	17.37:g.27382170C>A	ENSP00000317721:p.Ser299Arg						p.S299R	NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		6	1223	+	Lung NSC(42;0.015)		299					B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	c.897C>A	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	C	1.527	-0.545262	0.04024	.	.	ENSG00000179761	ENST00000323372	T	0.80123	-1.34	5.94	-2.1	0.07210	FAD dependent oxidoreductase (1);	0.680368	0.16706	N	0.202903	T	0.52917	0.1764	N	0.12502	0.225	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.34030	-0.9845	10	0.14656	T	0.56	-4.2207	1.8658	0.03198	0.108:0.3605:0.2108:0.3206	.	299	Q9P0Z9	SOX_HUMAN	R	299	ENSP00000317721:S299R	ENSP00000317721:S299R	S	+	3	2	PIPOX	24406296	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.294000	0.19047	-0.307000	0.08804	-0.261000	0.10672	AGC		0.602	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		17	138	1	0	2.38e-13	2.58e-13	17	138				
KRTAP4-11	653240	broad.mit.edu	37	17	39274150	39274150	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:39274150T>A	ENST00000391413.2	-	1	456	c.418A>T	c.(418-420)Agc>Tgc	p.S140C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	140	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.S140C(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgctgcagctgggg	0.672																																						uc002hvz.2		NA																	2	Substitution - Missense(2)		prostate(1)|kidney(1)		0						c.(418-420)AGC>TGC		keratin associated protein 4-11							8.0	13.0	12.0					17																	39274150		686	1587	2273	SO:0001583	missense	653240					keratin filament		g.chr17:39274150T>A	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.418A>T	17.37:g.39274150T>A	ENSP00000375232:p.Ser140Cys						p.S140C	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	457	-		Breast(137;0.000496)	140			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.418A>T	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	6.114	0.389323	0.11581	.	.	ENSG00000212721	ENST00000391413	T	0.00832	5.64	3.95	-4.72	0.03269	.	.	.	.	.	T	0.00178	0.0005	N	0.00010	-3.035	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48139	-0.9061	9	0.02654	T	1	.	4.7994	0.13289	0.3484:0.2238:0.0:0.4278	.	140	Q9BYQ6	KR411_HUMAN	C	140	ENSP00000375232:S140C	ENSP00000375232:S140C	S	-	1	0	KRTAP4-11	36527676	0.000000	0.05858	0.000000	0.03702	0.829000	0.46940	0.038000	0.13862	-0.681000	0.05204	-0.924000	0.02725	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	37	0	0	0	0	4	37				
ABCA10	10349	broad.mit.edu	37	17	67153022	67153022	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:67153022G>C	ENST00000269081.4	-	29	4315	c.3406C>G	c.(3406-3408)Ctg>Gtg	p.L1136V	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1136					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCATTTCCAGACACCTTATG	0.303																																						uc010dfa.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3406-3408)CTG>GTG		ATP-binding cassette, sub-family A, member 10							27.0	27.0	27.0					17																	67153022		2200	4284	6484	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67153022G>C	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3406C>G	17.37:g.67153022G>C	ENSP00000269081:p.Leu1136Val					ABCA10_uc010wqs.1_Missense_Mutation_p.L128V|ABCA10_uc010wqt.1_RNA	p.L1136V	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			29	4285	-	Breast(10;6.95e-12)		1136					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.3406C>G	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392216	0.25118	.	.	ENSG00000154263	ENST00000269081	D	0.89196	-2.48	3.28	1.07	0.20283	.	0.000000	0.27735	U	0.018062	D	0.92041	0.7478	M	0.82193	2.58	0.53005	D	0.99996	P;D	0.76494	0.899;0.999	P;D	0.65987	0.656;0.94	D	0.88778	0.3269	10	0.72032	D	0.01	.	4.2966	0.10904	0.1769:0.0:0.5063:0.3168	.	128;1136	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	V	1136	ENSP00000269081:L1136V	ENSP00000269081:L1136V	L	-	1	2	ABCA10	64664617	0.878000	0.30173	0.337000	0.25536	0.416000	0.31233	1.299000	0.33424	0.163000	0.19507	0.563000	0.77884	CTG		0.303	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		16	12	0	0	0	0	16	12				
ABCA10	10349	broad.mit.edu	37	17	67171572	67171572	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:67171572C>T	ENST00000269081.4	-	24	3761	c.2852G>A	c.(2851-2853)gGc>gAc	p.G951D	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	951					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GCTGCTCATGCCGATAAAAGG	0.343																																						uc010dfa.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2851-2853)GGC>GAC		ATP-binding cassette, sub-family A, member 10							100.0	91.0	94.0					17																	67171572		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67171572C>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2852G>A	17.37:g.67171572C>T	ENSP00000269081:p.Gly951Asp					ABCA10_uc010wqs.1_5'UTR|ABCA10_uc010wqt.1_RNA	p.G951D	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			24	3731	-	Breast(10;6.95e-12)		951					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.2852G>A	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736256	0.30774	.	.	ENSG00000154263	ENST00000269081	D	0.87729	-2.29	3.72	-1.0	0.10196	.	0.256618	0.19431	U	0.114454	D	0.84665	0.5522	L	0.40543	1.245	0.28920	N	0.892191	P	0.41188	0.741	P	0.48141	0.568	T	0.81046	-0.1110	10	0.87932	D	0	.	12.451	0.55677	0.0:0.27:0.73:0.0	.	951	Q8WWZ4	ABCAA_HUMAN	D	951	ENSP00000269081:G951D	ENSP00000269081:G951D	G	-	2	0	ABCA10	64683167	0.002000	0.14202	0.304000	0.25085	0.178000	0.23041	-0.260000	0.08708	0.040000	0.15660	0.400000	0.26472	GGC		0.343	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		4	84	0	0	0	0	4	84				
RECQL5	9400	broad.mit.edu	37	17	73661241	73661241	+	Missense_Mutation	SNP	C	C	T	rs548064379		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:73661241C>T	ENST00000317905.5	-	3	301	c.142G>A	c.(142-144)Gtc>Atc	p.V48I	RECQL5_ENST00000340830.5_Missense_Mutation_p.V48I|SAP30BP_ENST00000584667.1_5'Flank|SAP30BP_ENST00000355423.3_5'Flank|RECQL5_ENST00000420326.2_Missense_Mutation_p.V48I|RECQL5_ENST00000423245.2_Intron|RECQL5_ENST00000584999.1_Missense_Mutation_p.V48I	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	48	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CACACAAAGACGTCCTTGTTA	0.438								Other identified genes with known or suspected DNA repair function																														uc010dgl.2		NA																	0				kidney(3)	3						c.(142-144)GTC>ATC	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							154.0	136.0	142.0					17																	73661241		2203	4300	6503	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73661241C>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.142G>A	17.37:g.73661241C>T	ENSP00000317636:p.Val48Ile					RECQL5_uc010dgk.2_Intron|RECQL5_uc002jpb.1_Missense_Mutation_p.V48I|RECQL5_uc002joz.3_Missense_Mutation_p.V48I|RECQL5_uc002jpa.3_Missense_Mutation_p.V48I	p.V48I	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		3	298	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		48			Helicase ATP-binding.		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.142G>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224948	0.39300	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T;T	0.19938	3.49;2.11;2.11;2.11	6.17	5.21	0.72293	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.058727	0.64402	N	0.000002	T	0.44477	0.1295	M	0.64630	1.985	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.78314	0.968;0.991	T	0.38090	-0.9677	10	0.54805	T	0.06	-24.9711	15.763	0.78101	0.0:0.935:0.0:0.065	.	48;48	O94762;O94762-3	RECQ5_HUMAN;.	I	48	ENSP00000394820:V48I;ENSP00000317636:V48I;ENSP00000414933:V48I;ENSP00000341983:V48I	ENSP00000317636:V48I	V	-	1	0	RECQL5	71172836	1.000000	0.71417	0.999000	0.59377	0.337000	0.28794	7.818000	0.86416	1.628000	0.50416	-0.150000	0.13652	GTC		0.438	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		45	145	0	0	0	0	45	145				
MC5R	4161	broad.mit.edu	37	18	13826656	13826656	+	Missense_Mutation	SNP	C	C	T	rs201991586		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr18:13826656C>T	ENST00000324750.3	+	1	1114	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	298					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.R298C(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATATGCCTTCCGCAGCCAAGA	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22191	0.0		0.0	False		,,,				2504	0.0					uc010xaf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|breast(1)	6						c.(892-894)CGC>TGC		melanocortin 5 receptor							123.0	122.0	122.0					18																	13826656		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826656C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.892C>T	18.37:g.13826656C>T	ENSP00000318077:p.Arg298Cys						p.R298C	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	892	+			298			Cytoplasmic (Potential).		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.892C>T	CCDS11868.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.114	1.007196	0.19199	.	.	ENSG00000176136	ENST00000324750	T	0.40476	1.03	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	M	0.80332	2.49	0.80722	D	1	B	0.31174	0.311	B	0.20955	0.032	T	0.57551	-0.7792	10	0.87932	D	0	.	17.7216	0.88353	0.0:1.0:0.0:0.0	.	298	P33032	MC5R_HUMAN	C	298	ENSP00000318077:R298C	ENSP00000318077:R298C	R	+	1	0	MC5R	13816656	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	2.271000	0.43364	2.246000	0.74042	0.305000	0.20034	CGC		0.483	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		60	73	0	0	0	0	60	73				
FEM1A	55527	broad.mit.edu	37	19	4793183	4793183	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:4793183G>A	ENST00000269856.3	+	1	1456	c.1317G>A	c.(1315-1317)gcG>gcA	p.A439A	AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA|AC005523.3_ENST00000598782.1_lincRNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	439					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCTCCTTCGCGGAACTCTTCT	0.622																																						uc002mbf.2		NA																	0					0						c.(1315-1317)GCG>GCA		fem-1 homolog a							78.0	86.0	83.0					19																	4793183		2203	4298	6501	SO:0001819	synonymous_variant	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793183G>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1317G>A	19.37:g.4793183G>A						uc002mbg.1_RNA	p.A439A	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1456	+		Hepatocellular(1079;0.137)	439					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Silent	SNP	ENST00000269856.3	37	c.1317G>A	CCDS12135.1																																																																																				0.622	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			49	83	0	0	0	0	49	83				
MUC16	94025	broad.mit.edu	37	19	9083519	9083519	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9083519C>T	ENST00000397910.4	-	1	8499	c.8296G>A	c.(8296-8298)Gaa>Aaa	p.E2766K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2766	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGAGTTTTCAGAACTCTGA	0.502																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(8296-8298)GAA>AAA		mucin 16							74.0	70.0	72.0					19																	9083519		1894	4125	6019	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083519C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8296G>A	19.37:g.9083519C>T	ENSP00000381008:p.Glu2766Lys						p.E2766K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	8500	-			2766			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.8296G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.456	-0.110952	0.06924	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	0.235	0.235	0.15431	.	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	.	.	.	B	0.20988	0.05	B	0.12837	0.008	T	0.35201	-0.9798	7	0.87932	D	0	.	.	.	.	.	2766	B5ME49	.	K	2766	ENSP00000381008:E2766K	ENSP00000381008:E2766K	E	-	1	0	MUC16	8944519	0.038000	0.19896	0.018000	0.16275	0.018000	0.09664	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	GAA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		27	39	0	0	0	0	27	39				
MUC16	94025	broad.mit.edu	37	19	9084696	9084696	+	Silent	SNP	C	C	T	rs151239264	byFrequency	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9084696C>T	ENST00000397910.4	-	1	7322	c.7119G>A	c.(7117-7119)ctG>ctA	p.L2373L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2373	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGTTGATCAGATCAGAAG	0.443																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(7117-7119)CTG>CTA		mucin 16							138.0	135.0	136.0					19																	9084696		1948	4147	6095	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084696C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7119G>A	19.37:g.9084696C>T							p.L2373L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	7323	-			2373			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.7119G>A	CCDS54212.1																																																																																				0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	27	0	0	0	0	23	27				
MUC16	94025	broad.mit.edu	37	19	9085596	9085596	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9085596C>T	ENST00000397910.4	-	1	6422	c.6219G>A	c.(6217-6219)ctG>ctA	p.L2073L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2073	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCTGAGGACAGTGCCTCAG	0.473																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6217-6219)CTG>CTA		mucin 16							161.0	153.0	155.0					19																	9085596		1923	4134	6057	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085596C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6219G>A	19.37:g.9085596C>T							p.L2073L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6423	-			2073			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.6219G>A	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		63	101	0	0	0	0	63	101				
MUC16	94025	broad.mit.edu	37	19	9085982	9085982	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9085982C>T	ENST00000397910.4	-	1	6036	c.5833G>A	c.(5833-5835)Gaa>Aaa	p.E1945K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1945	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAATGACTTCTTCCACTGGA	0.488																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(5833-5835)GAA>AAA		mucin 16							189.0	185.0	186.0					19																	9085982		2065	4196	6261	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085982C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5833G>A	19.37:g.9085982C>T	ENSP00000381008:p.Glu1945Lys						p.E1945K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6037	-			1945			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5833G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	10.28	1.307787	0.23821	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	0.235	0.235	0.15431	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	.	.	.	P	0.49696	0.927	P	0.56563	0.801	T	0.45862	-0.9232	7	0.87932	D	0	.	.	.	.	.	1945	B5ME49	.	K	1945	ENSP00000381008:E1945K	ENSP00000381008:E1945K	E	-	1	0	MUC16	8946982	0.000000	0.05858	0.664000	0.29753	0.666000	0.39218	-0.258000	0.08733	0.308000	0.22923	0.313000	0.20887	GAA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	39	0	0	0	0	30	39				
MUC16	94025	broad.mit.edu	37	19	9086220	9086220	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9086220C>G	ENST00000397910.4	-	1	5798	c.5595G>C	c.(5593-5595)ttG>ttC	p.L1865F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1865	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAGTATTCAATGACCTGT	0.502																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(5593-5595)TTG>TTC		mucin 16							61.0	59.0	60.0					19																	9086220		1930	4130	6060	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086220C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5595G>C	19.37:g.9086220C>G	ENSP00000381008:p.Leu1865Phe						p.L1865F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	5799	-			1865			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5595G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.825	-0.471197	0.04445	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	0.513	0.513	0.17000	.	.	.	.	.	T	0.05273	0.0140	N	0.08118	0	.	.	.	D	0.62365	0.991	D	0.65323	0.934	T	0.42189	-0.9466	7	0.87932	D	0	.	.	.	.	.	1865	B5ME49	.	F	1865	ENSP00000381008:L1865F	ENSP00000381008:L1865F	L	-	3	2	MUC16	8947220	0.000000	0.05858	0.007000	0.13788	0.135000	0.20990	-0.119000	0.10676	0.502000	0.28037	0.305000	0.20034	TTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	28	0	0	0	0	20	28				
MUC16	94025	broad.mit.edu	37	19	9086743	9086743	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9086743C>T	ENST00000397910.4	-	1	5275	c.5072G>A	c.(5071-5073)aGa>aAa	p.R1691K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1691	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGATGCTTCTTCCTGGAGC	0.483																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(5071-5073)AGA>AAA		mucin 16							133.0	125.0	128.0					19																	9086743		1965	4171	6136	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086743C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5072G>A	19.37:g.9086743C>T	ENSP00000381008:p.Arg1691Lys						p.R1691K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	5276	-			1691			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5072G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.617	0.114745	0.08831	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.18	0.0759	0.14401	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	.	.	.	P	0.45594	0.862	B	0.31751	0.135	T	0.48186	-0.9057	8	0.87932	D	0	.	3.4492	0.07491	0.0:0.7147:0.0:0.2853	.	1691	B5ME49	.	K	1691	ENSP00000381008:R1691K	ENSP00000381008:R1691K	R	-	2	0	MUC16	8947743	0.010000	0.17322	0.000000	0.03702	0.086000	0.17979	0.215000	0.17562	0.054000	0.16065	0.313000	0.20887	AGA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		53	56	0	0	0	0	53	56				
MUC16	94025	broad.mit.edu	37	19	9086890	9086890	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9086890C>A	ENST00000397910.4	-	1	5128	c.4925G>T	c.(4924-4926)gGa>gTa	p.G1642V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1642	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGTGACTCCACTACTACT	0.512																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4924-4926)GGA>GTA		mucin 16							198.0	190.0	193.0					19																	9086890		2034	4193	6227	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086890C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4925G>T	19.37:g.9086890C>A	ENSP00000381008:p.Gly1642Val						p.G1642V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	5129	-			1642			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4925G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.849	-0.465631	0.04476	.	.	ENSG00000181143	ENST00000397910	T	0.03580	3.88	1.33	0.239	0.15484	.	.	.	.	.	T	0.04182	0.0116	N	0.08118	0	.	.	.	D	0.71674	0.998	P	0.60682	0.878	T	0.41680	-0.9495	8	0.87932	D	0	.	3.6599	0.08234	0.0:0.7389:0.0:0.2611	.	1642	B5ME49	.	V	1642	ENSP00000381008:G1642V	ENSP00000381008:G1642V	G	-	2	0	MUC16	8947890	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-1.097000	0.03349	0.110000	0.17919	0.313000	0.20887	GGA		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		59	99	1	0	1.01e-23	1.11e-23	59	99				
MUC16	94025	broad.mit.edu	37	19	9087590	9087590	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9087590C>G	ENST00000397910.4	-	1	4428	c.4225G>C	c.(4225-4227)Gag>Cag	p.E1409Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1409	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGTGTCTCAAATCCAGAT	0.473																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4225-4227)GAG>CAG		mucin 16							143.0	139.0	141.0					19																	9087590		2074	4213	6287	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087590C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4225G>C	19.37:g.9087590C>G	ENSP00000381008:p.Glu1409Gln						p.E1409Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4429	-			1409			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4225G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.203	-0.382451	0.04966	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.19	-1.85	0.07784	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.40506	0.331	T	0.47749	-0.9093	8	0.87932	D	0	.	5.2397	0.15465	0.5918:0.4082:0.0:0.0	.	1409	B5ME49	.	Q	1409	ENSP00000381008:E1409Q	ENSP00000381008:E1409Q	E	-	1	0	MUC16	8948590	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.037000	0.12164	-0.437000	0.07243	0.305000	0.20034	GAG		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		54	78	0	0	0	0	54	78				
TYK2	7297	broad.mit.edu	37	19	10473005	10473005	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:10473005C>T	ENST00000525621.1	-	11	2085	c.1604G>A	c.(1603-1605)gGc>gAc	p.G535D	TYK2_ENST00000529370.1_Missense_Mutation_p.G535D|TYK2_ENST00000524462.1_Missense_Mutation_p.G350D|TYK2_ENST00000264818.6_Missense_Mutation_p.G535D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	535					cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGCAAGCAGCCCTGCAAGGC	0.652																																						uc002moc.3		NA																	0				lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(1603-1605)GGC>GAC		tyrosine kinase 2							40.0	42.0	41.0					19																	10473005		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10473005C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1604G>A	19.37:g.10473005C>T	ENSP00000431885:p.Gly535Asp					TYK2_uc010dxe.2_Missense_Mutation_p.G350D|TYK2_uc002mod.2_Missense_Mutation_p.G535D	p.G535D	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		11	1982	-			535					Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.1604G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521160	0.27211	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	4.3	2.1	0.27182	SH2 motif (1);	0.116572	0.35903	N	0.002909	T	0.08537	0.0212	L	0.50333	1.59	0.40882	D	0.984008	P;B	0.34934	0.476;0.092	B;B	0.31547	0.132;0.078	T	0.31081	-0.9956	10	0.19590	T	0.45	-22.7197	7.8066	0.29206	0.0:0.7813:0.0:0.2187	.	535;535	E9PPF2;P29597	.;TYK2_HUMAN	D	350;535;535;282;535	ENSP00000433203:G350D;ENSP00000431885:G535D;ENSP00000264818:G535D;ENSP00000432728:G535D	ENSP00000264818:G535D	G	-	2	0	TYK2	10334005	0.997000	0.39634	0.937000	0.37676	0.018000	0.09664	1.506000	0.35747	0.433000	0.26313	0.561000	0.74099	GGC		0.652	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			3	40	0	0	0	0	3	40				
CNN1	1264	broad.mit.edu	37	19	11657661	11657661	+	Silent	SNP	C	C	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:11657661C>A	ENST00000252456.2	+	4	478	c.267C>A	c.(265-267)ggC>ggA	p.G89G	CNN1_ENST00000592923.1_Silent_p.G39G|CNN1_ENST00000544952.1_Silent_p.G69G|CNN1_ENST00000535659.2_Silent_p.G39G	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	89	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						AGAACATCGGCAACTTCATCA	0.572																																						uc002msc.1		NA																	0					0						c.(265-267)GGC>GGA		calponin 1, basic, smooth muscle							122.0	101.0	108.0					19																	11657661		2203	4300	6503	SO:0001819	synonymous_variant	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11657661C>A	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.267C>A	19.37:g.11657661C>A						CNN1_uc010xmb.1_Silent_p.G39G|CNN1_uc010xmc.1_Silent_p.G39G	p.G89G	NM_001299	NP_001290	P51911	CNN1_HUMAN			4	431	+			89			CH.		B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Silent	SNP	ENST00000252456.2	37	c.267C>A	CCDS12263.1																																																																																				0.572	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299		8	75	1	0	5.18e-06	5.48e-06	8	75				
GRAMD1A	57655	broad.mit.edu	37	19	35512474	35512474	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:35512474C>T	ENST00000317991.5	+	14	1736	c.1544C>T	c.(1543-1545)tCg>tTg	p.S515L	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.S602L|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.S508L|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.S281L	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	515						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAAGAACTCGTGGAGCGGC	0.582																																						uc010xse.1		NA																	0					0						c.(1543-1545)TCG>TTG		GRAM domain containing 1A isoform 1							70.0	73.0	72.0					19																	35512474		1948	4122	6070	SO:0001583	missense	57655					integral to membrane		g.chr19:35512474C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1544C>T	19.37:g.35512474C>T	ENSP00000441032:p.Ser515Leu					GRAMD1A_uc002nxk.2_Missense_Mutation_p.S508L|GRAMD1A_uc002nxl.2_Missense_Mutation_p.S281L|GRAMD1A_uc010xsf.1_Missense_Mutation_p.S520L|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.S130L	p.S515L	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		14	1681	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		515					A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.1544C>T	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182600	0.57800	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.22336	1.96;1.96;1.96	4.33	4.33	0.51752	.	0.086126	0.48767	D	0.000164	T	0.29458	0.0734	L	0.60455	1.87	0.42985	D	0.994471	D;P;D;D	0.62365	0.971;0.83;0.991;0.968	B;B;P;P	0.48873	0.439;0.086;0.539;0.593	T	0.07635	-1.0762	10	0.51188	T	0.08	.	14.3583	0.66752	0.0:1.0:0.0:0.0	.	515;515;281;508	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	L	601;281;515;508	ENSP00000423728:S281L;ENSP00000441032:S515L;ENSP00000439267:S508L	ENSP00000441032:S515L	S	+	2	0	GRAMD1A	40204314	0.806000	0.28996	0.955000	0.39395	0.977000	0.68977	2.268000	0.43338	2.255000	0.74692	0.491000	0.48974	TCG		0.582	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		31	46	0	0	0	0	31	46				
HSPB6	126393	broad.mit.edu	37	19	36245020	36245020	+	IGR	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:36245020C>T	ENST00000592984.1	-	0	1634				AC002398.12_ENST00000587767.1_RNA|AC002398.9_ENST00000591613.2_3'UTR|AC002398.11_ENST00000591091.1_RNA|LIN37_ENST00000301159.9_Missense_Mutation_p.P183S			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CATCCCATCTCCACTGCAGCC	0.627																																						uc002obm.2		NA																	0					0						c.(547-549)CCA>TCA		lin-37 homolog							50.0	57.0	55.0					19																	36245020		2055	4195	6250	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36245020C>T	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36245020C>T						uc002obl.2_5'Flank	p.P183S	NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	661	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		183			Pro-rich.		O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.547C>T	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502111	0.44455	.	.	ENSG00000188223	ENST00000301159	T	0.47528	0.84	5.08	5.08	0.68730	.	0.331135	0.36066	N	0.002820	T	0.47097	0.1427	M	0.72118	2.19	0.46521	D	0.999089	P	0.42584	0.784	B	0.36885	0.235	T	0.52801	-0.8527	10	0.42905	T	0.14	-9.4007	15.4907	0.75602	0.0:1.0:0.0:0.0	.	183	Q96GY3	LIN37_HUMAN	S	183	ENSP00000301159:P183S	ENSP00000301159:P183S	P	+	1	0	LIN37	40936860	1.000000	0.71417	0.989000	0.46669	0.462000	0.32619	2.996000	0.49449	2.640000	0.89533	0.655000	0.94253	CCA		0.627	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		24	28	0	0	0	0	24	28				
HNRNPL	3191	broad.mit.edu	37	19	39330892	39330892	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:39330892G>A	ENST00000221419.5	-	8	1443	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y	HNRNPL_ENST00000600873.1_Silent_p.Y226Y|AC104534.3_ENST00000594769.1_5'Flank	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	359	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACTGGGGGCCGTAGCGACTTG	0.652																																						uc010xul.1		NA																	0					0						c.(1075-1077)TAC>TAT		heterogeneous nuclear ribonucleoprotein L							5.0	7.0	6.0					19																	39330892		1738	3441	5179	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330892G>A	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1077C>T	19.37:g.39330892G>A						HNRNPL_uc010ege.1_Silent_p.Y15Y|HNRNPL_uc002ojj.1_Silent_p.Y15Y|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.Y15Y|HNRNPL_uc002ojl.2_Silent_p.Y15Y|HNRNPL_uc010xum.1_Silent_p.Y226Y|HNRNPL_uc002ojp.1_Silent_p.Y15Y|HNRNPL_uc010xun.1_Missense_Mutation_p.T67M	p.Y359Y	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1088	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		359			Pro-rich.		A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.1077C>T	CCDS33015.1																																																																																				0.652	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			5	6	0	0	0	0	5	6				
PSG9	5678	broad.mit.edu	37	19	43763286	43763286	+	Splice_Site	SNP	C	C	T	rs4028446		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:43763286C>T	ENST00000270077.3	-	4	807	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Splice_Site_p.S144S|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000418820.2_Splice_Site_p.S144S	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	237					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.493																																						uc002owd.3		NA																	0				ovary(1)|skin(1)	2						c.(709-711)CCG>CCA		pregnancy specific beta-1-glycoprotein 9																																				SO:0001630	splice_region_variant	5678				female pregnancy	extracellular region		g.chr19:43763286C>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.710-1G>A	19.37:g.43763286C>T						PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Silent_p.S144S|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron	p.P237P	NM_002784	NP_002775	Q00887	PSG9_HUMAN			4	810	-		Prostate(69;0.00682)	237					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.711G>A	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	0.170	-1.072691	0.01918	.	.	ENSG00000183668	ENST00000418820	.	.	.	1.39	-2.77	0.05877	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.20196	N	0.999921	.	.	.	.	.	.	T	0.25398	-1.0133	4	.	.	.	.	2.0306	0.03528	0.2555:0.3247:0.0:0.4198	rs4028446	.	.	.	Q	131	.	.	R	-	2	0	PSG9	48455126	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.242000	0.02908	-0.656000	0.05380	-1.031000	0.02408	CGA		0.493	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	Silent	74	146	0	0	0	0	74	146				
ZNF667	63934	broad.mit.edu	37	19	56969527	56969527	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:56969527G>T	ENST00000504904.3	-	6	969	c.250C>A	c.(250-252)Cct>Act	p.P84T	ZNF667_ENST00000591790.1_Missense_Mutation_p.P84T|ZNF667_ENST00000292069.6_Missense_Mutation_p.P84T|ZNF667_ENST00000342634.3_Missense_Mutation_p.P177T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CACTCACCAGGAGCCCGGCGT	0.478																																						uc002qnd.2		NA																	0				pancreas(1)	1						c.(250-252)CCT>ACT		zinc finger protein 667							103.0	86.0	92.0					19																	56969527		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56969527G>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.250C>A	19.37:g.56969527G>T	ENSP00000439402:p.Pro84Thr					ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.P84T|ZNF667_uc010etm.2_5'UTR	p.P84T	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	4	412	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	84			KRAB.		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.250C>A	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	3.187	-0.166698	0.06461	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	T;T;T	0.06608	3.28;3.39;3.39	3.9	0.274	0.15654	Krueppel-associated box (1);	1.300180	0.05926	N	0.634303	T	0.06050	0.0157	L	0.36672	1.1	0.09310	N	1	B	0.24186	0.099	B	0.21360	0.034	T	0.45775	-0.9238	10	0.22109	T	0.4	-0.0114	8.0336	0.30480	0.1827:0.0:0.8173:0.0	.	84	Q5HYK9	ZN667_HUMAN	T	177;84;84	ENSP00000344699:P177T;ENSP00000439402:P84T;ENSP00000292069:P84T	ENSP00000292069:P84T	P	-	1	0	ZNF667	61661339	0.000000	0.05858	0.016000	0.15963	0.861000	0.49209	-0.236000	0.09003	0.120000	0.18254	0.313000	0.20887	CCT		0.478	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		6	73	1	0	3.6e-05	3.79e-05	6	73				
TPO	7173	broad.mit.edu	37	2	1459985	1459985	+	Silent	SNP	A	A	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:1459985A>G	ENST00000345913.4	+	7	841	c.750A>G	c.(748-750)aaA>aaG	p.K250K	TPO_ENST00000382198.1_Silent_p.K250K|TPO_ENST00000349624.3_Silent_p.K250K|TPO_ENST00000346956.3_Silent_p.K250K|TPO_ENST00000329066.4_Silent_p.K250K|TPO_ENST00000382201.3_Silent_p.K250K|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Silent_p.K250K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	250					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCACCAGCAAAGCTGCCTTCG	0.483																																						uc002qww.2		NA																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(748-750)AAA>AAG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						89.0	75.0	80.0					2																	1459985		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1459985A>G		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.750A>G	2.37:g.1459985A>G						TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.K250K|TPO_uc002qwr.2_Silent_p.K250K|TPO_uc002qwx.2_Silent_p.K250K|TPO_uc010yio.1_Silent_p.K250K|TPO_uc010yip.1_Silent_p.K250K	p.K250K	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	841	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	250			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.750A>G	CCDS1643.1																																																																																				0.483	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		11	20	0	0	0	0	11	20				
PLEKHH2	130271	broad.mit.edu	37	2	43871918	43871918	+	Missense_Mutation	SNP	G	G	A	rs374226792		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:43871918G>A	ENST00000282406.4	+	2	216	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	36					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)				CAAGATACGAGAGCTTTTAGC	0.398																																						uc010yny.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(106-108)GAG>AAG		pleckstrin homology domain containing, family H							87.0	82.0	84.0					2																	43871918		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43871918G>A	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.106G>A	2.37:g.43871918G>A	ENSP00000282406:p.Glu36Lys					PLEKHH2_uc002rte.3_Missense_Mutation_p.E36K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E36K	p.E36K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			2	189	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	36			Potential.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.106G>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054673	0.75960	.	.	ENSG00000152527	ENST00000282406	T	0.03717	3.83	5.4	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.47016	1.485	0.40581	D	0.981393	P;P	0.52842	0.956;0.859	P;P	0.56514	0.719;0.8	T	0.03403	-1.1040	10	0.54805	T	0.06	-9.9051	14.6561	0.68833	0.0:0.147:0.853:0.0	.	36;36	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	K	36	ENSP00000282406:E36K	ENSP00000282406:E36K	E	+	1	0	PLEKHH2	43725422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.819000	0.69243	1.210000	0.43336	0.655000	0.94253	GAG		0.398	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		20	27	0	0	0	0	20	27				
KANSL3	55683	broad.mit.edu	37	2	97274403	97274403	+	Splice_Site	SNP	T	T	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:97274403T>C	ENST00000431828.1	-	14	1661		c.e14-2		KANSL3_ENST00000440133.1_Splice_Site|KANSL3_ENST00000441706.2_Splice_Site|KANSL3_ENST00000487070.1_Splice_Site|KANSL3_ENST00000599854.1_Splice_Site			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGAGAGATCCTGAGTAAGGTG	0.522																																						uc002swn.3		NA																	0					0						c.e14-1		hypothetical protein LOC55683 isoform a							90.0	88.0	89.0					2																	97274403		2047	4196	6243	SO:0001630	splice_region_variant	55683							g.chr2:97274403T>C	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1585-2A>G	2.37:g.97274403T>C						KIAA1310_uc002swh.3_Splice_Site_p.D417_splice|KIAA1310_uc002swi.3_Splice_Site_p.D430_splice|KIAA1310_uc002swj.3_Splice_Site|KIAA1310_uc002swk.3_Splice_Site_p.D442_splice|KIAA1310_uc010fhz.2_Splice_Site_p.D323_splice|KIAA1310_uc002swl.3_Splice_Site_p.D430_splice|KIAA1310_uc002swm.3_Splice_Site|KIAA1310_uc010yur.1_Splice_Site_p.D323_splice|KIAA1310_uc002swp.1_Splice_Site_p.D430_splice	p.D529_splice	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN			14	1731	-								A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Splice_Site	SNP	ENST00000431828.1	37	c.1585_splice	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.603066	0.66445	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8376	0.57782	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1310	96638130	1.000000	0.71417	0.941000	0.38009	0.764000	0.43329	5.614000	0.67695	2.130000	0.65690	0.496000	0.49642	.		0.522	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	Intron	25	35	0	0	0	0	25	35				
TSGA10	80705	broad.mit.edu	37	2	99721848	99721848	+	Missense_Mutation	SNP	C	C	G	rs201326323		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:99721848C>G	ENST00000393483.3	-	9	1277	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	TSGA10_ENST00000410001.1_Missense_Mutation_p.E145Q|TSGA10_ENST00000542655.1_Missense_Mutation_p.E145Q|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.E145Q|TSGA10_ENST00000355053.4_Missense_Mutation_p.E145Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	145					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCCAGCTCCTCTATCCTTTGT	0.338																																						uc002szg.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(433-435)GAG>CAG		testis specific, 10							60.0	63.0	62.0					2																	99721848		2202	4300	6502	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99721848C>G	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.433G>C	2.37:g.99721848C>G	ENSP00000377123:p.Glu145Gln					TSGA10_uc002szh.3_Missense_Mutation_p.E145Q|TSGA10_uc002szi.3_Missense_Mutation_p.E145Q|TSGA10_uc010fin.1_Missense_Mutation_p.E145Q|TSGA10_uc010yvn.1_Missense_Mutation_p.E145Q	p.E145Q	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			7	1061	-			145					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.433G>C	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243666	0.79912	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000016	T	0.68183	0.2973	M	0.75615	2.305	0.49483	D	0.999791	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.67082	-0.5760	10	0.37606	T	0.19	-14.4133	17.0511	0.86519	0.0:1.0:0.0:0.0	.	145;145	B7Z925;Q9BZW7	.;TSG10_HUMAN	Q	145	ENSP00000377123:E145Q;ENSP00000386956:E145Q;ENSP00000347161:E145Q;ENSP00000444419:E145Q;ENSP00000386508:E145Q;ENSP00000377122:E145Q;ENSP00000445623:E145Q	ENSP00000347161:E145Q	E	-	1	0	TSGA10	99088280	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.883000	0.69721	2.593000	0.87608	0.650000	0.86243	GAG		0.338	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		25	42	0	0	0	0	25	42				
R3HDM1	23518	broad.mit.edu	37	2	136399147	136399147	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:136399147C>G	ENST00000264160.4	+	15	1631	c.1261C>G	c.(1261-1263)Ctt>Gtt	p.L421V	R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409606.1_Missense_Mutation_p.L421V|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000410054.1_Missense_Mutation_p.L365V|R3HDM1_ENST00000409478.1_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	421							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TACAGGCTCTCTTTCTCACAT	0.438																																						uc002tuo.2		NA																	0				skin(1)	1						c.(1261-1263)CTT>GTT		R3H domain containing 1							130.0	126.0	127.0					2																	136399147		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136399147C>G	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1261C>G	2.37:g.136399147C>G	ENSP00000264160:p.Leu421Val					R3HDM1_uc010fni.2_Missense_Mutation_p.L419V|R3HDM1_uc002tup.2_Missense_Mutation_p.L365V|R3HDM1_uc010zbh.1_Intron	p.L421V	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	15	1631	+			421					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.1261C>G	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.530067|4.530067	0.85706|0.85706	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000264160;ENST00000410054;ENST00000409606|ENST00000441871;ENST00000429703	T;T;T|T;T	0.47177|0.52295	0.85;0.85;0.85|0.67;0.67	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66954|0.66954	0.2842|0.2842	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.997;0.997|.	D;D;D|.	0.78314|.	0.955;0.978;0.991|.	T|T	0.65932|0.65932	-0.6048|-0.6048	10|7	0.28530|0.51188	T|T	0.3|0.08	-11.5089|-11.5089	19.9857|19.9857	0.97347|0.97347	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	421;365;421|.	E9PBB4;E9PG42;Q15032|.	.;.;R3HD1_HUMAN|.	V|C	421;365;421|112;109	ENSP00000264160:L421V;ENSP00000386877:L365V;ENSP00000387010:L421V|ENSP00000402940:S112C;ENSP00000403406:S109C	ENSP00000264160:L421V|ENSP00000403406:S109C	L|S	+|+	1|2	0|0	R3HDM1|R3HDM1	136115617|136115617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.536000|7.536000	0.82023|0.82023	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.438	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		46	65	0	0	0	0	46	65				
SCN9A	6335	broad.mit.edu	37	2	167143021	167143021	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:167143021C>T	ENST00000409435.1	-	10	1426	c.1427G>A	c.(1426-1428)aGa>aAa	p.R476K	SCN9A_ENST00000303354.6_Missense_Mutation_p.R477K|SCN9A_ENST00000409672.1_Missense_Mutation_p.R476K|SCN9A_ENST00000375387.4_Missense_Mutation_p.R477K|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	476					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTGTTTCTTCTTTCTTTAGC	0.408																																						uc010fpl.2		NA																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(1426-1428)AGA>AAA		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						54.0	50.0	51.0					2																	167143021		1814	4081	5895	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167143021C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1427G>A	2.37:g.167143021C>T	ENSP00000386330:p.Arg476Lys					uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R347K|SCN9A_uc002uds.1_Missense_Mutation_p.R347K|SCN9A_uc002udt.1_Missense_Mutation_p.R347K	p.R476K	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			11	1768	-			476					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1427G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246371	0.95305	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	5.86	5.86	0.93980	Domain of unknown function DUF3451 (1);	0.174494	0.41097	D	0.000957	D	0.94338	0.8180	M	0.91663	3.23	0.58432	D	0.999996	B;B;B	0.31879	0.095;0.344;0.195	B;B;B	0.40134	0.32;0.256;0.055	D	0.92860	0.6305	10	0.40728	T	0.16	.	20.1739	0.98173	0.0:1.0:0.0:0.0	.	476;476;477	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	K	476;477;477;476;341;341	ENSP00000386306:R476K;ENSP00000364536:R477K;ENSP00000304748:R477K;ENSP00000386330:R476K;ENSP00000413212:R341K;ENSP00000393141:R341K	ENSP00000304748:R477K	R	-	2	0	SCN9A	166851267	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.748000	0.85085	2.774000	0.95407	0.585000	0.79938	AGA		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		25	29	0	0	0	0	25	29				
DNAH7	56171	broad.mit.edu	37	2	196602680	196602680	+	Nonsense_Mutation	SNP	G	G	A	rs554368145		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:196602680G>A	ENST00000312428.6	-	65	12140	c.12040C>T	c.(12040-12042)Cga>Tga	p.R4014*	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Nonsense_Mutation_p.R497*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	4014					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTACACCTCGTCCAATCCAG	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		19788	0.001		0.0	False		,,,				2504	0.0					uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(12040-12042)CGA>TGA		dynein, axonemal, heavy chain 7							73.0	72.0	72.0					2																	196602680		1927	4131	6058	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196602680G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.12040C>T	2.37:g.196602680G>A	ENSP00000311273:p.Arg4014*					DNAH7_uc002uti.3_Nonsense_Mutation_p.R497*	p.R4014*	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			65	12141	-			4014					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.12040C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374911	0.61735	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	.	.	.	4.51	2.49	0.30216	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4686	0.61270	0.0:0.0:0.7188:0.2812	.	.	.	.	X	4014;497	.	ENSP00000311273:R4014X	R	-	1	2	DNAH7	196310925	0.999000	0.42202	1.000000	0.80357	0.289000	0.27227	2.519000	0.45546	1.191000	0.43056	0.585000	0.79938	CGA		0.433	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		21	24	0	0	0	0	21	24				
ALS2CR11	151254	broad.mit.edu	37	2	202430560	202430560	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:202430560G>A	ENST00000286195.3	-	9	913	c.869C>T	c.(868-870)gCa>gTa	p.A290V	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.A290V|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.A290V|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.A290V	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	290										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GGATAAGAATGCTGGATATTC	0.393																																						uc002uye.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(868-870)GCA>GTA		amyotrophic lateral sclerosis 2 (juvenile)							87.0	86.0	86.0					2																	202430560		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202430560G>A	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.869C>T	2.37:g.202430560G>A	ENSP00000286195:p.Ala290Val					ALS2CR11_uc002uyf.2_Missense_Mutation_p.A290V|ALS2CR11_uc010fti.2_Missense_Mutation_p.A290V	p.A290V	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN			9	917	-			290					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.869C>T	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579842	0.86645	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.55	5.55	0.83447	.	0.363657	0.23547	N	0.047008	T	0.63094	0.2482	M	0.63843	1.955	0.38919	D	0.957696	D;D;D	0.89917	1.0;0.991;0.999	D;D;D	0.91635	0.999;0.974;0.973	T	0.66590	-0.5885	10	0.72032	D	0.01	.	16.4188	0.83752	0.0:0.0:1.0:0.0	.	290;290;290	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	V	290	ENSP00000286195:A290V;ENSP00000400672:A290V;ENSP00000409937:A290V;ENSP00000399016:A290V	ENSP00000286195:A290V	A	-	2	0	ALS2CR11	202138805	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.968000	0.63728	2.602000	0.87976	0.655000	0.94253	GCA		0.393	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		7	17	0	0	0	0	7	17				
BCS1L	617	broad.mit.edu	37	2	219527690	219527690	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:219527690G>A	ENST00000431802.1	+	7	1673	c.974G>A	c.(973-975)cGc>cAc	p.R325H	BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392111.2_Missense_Mutation_p.R325H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R325H|BCS1L_ENST00000392110.2_Missense_Mutation_p.R325H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R325H|BCS1L_ENST00000439945.1_Missense_Mutation_p.R325H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R325H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	325					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCGAGGCCCGCATCGTGTTC	0.582																																						uc002vio.2		NA																	0					0						c.(973-975)CGC>CAC		BCS1-like							113.0	99.0	104.0					2																	219527690		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219527690G>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.974G>A	2.37:g.219527690G>A	ENSP00000413908:p.Arg325His					BCS1L_uc002vip.2_Missense_Mutation_p.R325H|BCS1L_uc002viq.2_Missense_Mutation_p.R325H|BCS1L_uc010fvu.2_Missense_Mutation_p.R325H|BCS1L_uc010fvv.2_Missense_Mutation_p.R325H|BCS1L_uc002vir.2_Missense_Mutation_p.R325H|BCS1L_uc002vis.2_Missense_Mutation_p.R325H	p.R325H	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1392	+		Renal(207;0.0474)	325			Mitochondrial matrix (Potential).		B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.974G>A	CCDS2419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.235719|4.235719	0.79800|0.79800	.|.	.|.	ENSG00000074582|ENSG00000074582	ENST00000436603|ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	.|D;D;D;D;D;D;D	.|0.92858	.|-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	4.94|4.94	4.94|4.94	0.65067|0.65067	.|ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96962|0.96962	0.9008|0.9008	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.97766|0.97766	1.0223|1.0223	5|10	.|0.87932	.|D	.|0	-5.3098|-5.3098	18.357|18.357	0.90361|0.90361	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|325	.|Q9Y276	.|BCS1_HUMAN	T|H	107|325	.|ENSP00000352219:R325H;ENSP00000375957:R325H;ENSP00000375958:R325H;ENSP00000375959:R325H;ENSP00000406494:R325H;ENSP00000404999:R325H;ENSP00000413908:R325H	.|ENSP00000352219:R325H	A|R	+|+	1|2	0|0	BCS1L|BCS1L	219235934|219235934	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.188000|0.188000	0.23474|0.23474	9.612000|9.612000	0.98347|0.98347	2.560000|2.560000	0.86352|0.86352	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.582	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		4	96	0	0	0	0	4	96				
ASIC4	55515	broad.mit.edu	37	2	220396543	220396543	+	Missense_Mutation	SNP	C	C	T	rs199912510		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:220396543C>T	ENST00000347842.3	+	2	1041	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	ASIC4_ENST00000358078.4_Missense_Mutation_p.R343W|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	343					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GCTGCCCAGCCGGGCAGGGGG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18545	0.0		0.001	False		,,,				2504	0.0					uc002vma.2		NA																	0				ovary(2)	2						c.(1027-1029)CGG>TGG		amiloride-sensitive cation channel 4 isoform 2							58.0	65.0	63.0					2																	220396543		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220396543C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1027C>T	2.37:g.220396543C>T	ENSP00000326627:p.Arg343Trp					ACCN4_uc010fwi.1_Missense_Mutation_p.R343W|ACCN4_uc010fwj.1_Missense_Mutation_p.R343W|ACCN4_uc002vly.1_Missense_Mutation_p.R343W|ACCN4_uc002vlz.2_Missense_Mutation_p.R343W|ACCN4_uc002vmb.2_5'UTR	p.R343W	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)	2	1041	+		Renal(207;0.0183)	343			Extracellular (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1027C>T	CCDS2442.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.80	3.222588	0.58668	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.63417	-0.04;-0.04	3.16	2.23	0.28157	.	0.062833	0.64402	D	0.000014	T	0.70159	0.3192	L	0.58810	1.83	0.38436	D	0.946587	D;D;D	0.89917	1.0;0.991;1.0	D;P;D	0.67103	0.949;0.894;0.924	T	0.70149	-0.4951	10	0.39692	T	0.17	-13.1084	9.9771	0.41791	0.3798:0.6202:0.0:0.0	.	343;343;343	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	W	343	ENSP00000326627:R343W;ENSP00000350786:R343W	ENSP00000326627:R343W	R	+	1	2	ACCN4	220104787	0.959000	0.32827	1.000000	0.80357	0.958000	0.62258	1.436000	0.34980	0.842000	0.35045	0.561000	0.74099	CGG		0.627	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		33	55	0	0	0	0	33	55				
DNMT3B	1789	broad.mit.edu	37	20	31379433	31379433	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr20:31379433G>A	ENST00000328111.2	+	8	1161	c.840G>A	c.(838-840)ctG>ctA	p.L280L	DNMT3B_ENST00000456297.2_Silent_p.L204L|DNMT3B_ENST00000348286.2_Silent_p.L280L|DNMT3B_ENST00000375623.4_Silent_p.L238L|DNMT3B_ENST00000443239.3_Silent_p.L238L|DNMT3B_ENST00000344505.4_Silent_p.L280L|DNMT3B_ENST00000353855.2_Silent_p.L280L|DNMT3B_ENST00000201963.3_Silent_p.L292L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	280	Interaction with DNMT1 and DNMT3A.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTGGCACTGGGGCTGTTCA	0.483																																						uc002wyc.2		NA																	0				lung(3)|ovary(2)	5						c.(838-840)CTG>CTA		DNA cytosine-5 methyltransferase 3 beta isoform							173.0	124.0	141.0					20																	31379433		2203	4300	6503	SO:0001819	synonymous_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31379433G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.840G>A	20.37:g.31379433G>A						DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.L280L|DNMT3B_uc002wye.2_Silent_p.L280L|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.L238L|DNMT3B_uc010zua.1_Silent_p.L204L|DNMT3B_uc002wyf.2_Silent_p.L292L|DNMT3B_uc002wyg.2_5'UTR	p.L280L	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			8	1161	+			280			PWWP.|Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	c.840G>A	CCDS13205.1																																																																																				0.483	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		18	154	0	0	0	0	18	154				
BPIFB3	359710	broad.mit.edu	37	20	31651460	31651460	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr20:31651460G>A	ENST00000375494.3	+	6	631	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	211	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGTGGTGAATGAGCTCCTGGG	0.587																																						uc002wym.1		NA																	0				ovary(4)	4						c.(631-633)GAG>AAG		antimicrobial peptide RYA3 precursor							180.0	138.0	152.0					20																	31651460		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31651460G>A	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.631G>A	20.37:g.31651460G>A	ENSP00000364643:p.Glu211Lys						p.E211K	NM_182658	NP_872599	P59826	LPLC3_HUMAN			6	631	+			211			Leu-rich.		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.631G>A	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249709	0.39797	.	.	ENSG00000186190	ENST00000375494	T	0.04406	3.63	4.6	4.6	0.57074	.	0.247869	0.28641	N	0.014625	T	0.08088	0.0202	M	0.63428	1.95	0.30259	N	0.793351	P	0.36412	0.552	B	0.42462	0.388	T	0.03394	-1.1041	10	0.07813	T	0.8	-29.5435	12.7649	0.57386	0.0:0.0:1.0:0.0	.	211	P59826	BPIB3_HUMAN	K	211	ENSP00000364643:E211K	ENSP00000364643:E211K	E	+	1	0	BPIFB3	31115121	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	4.136000	0.58004	2.378000	0.81104	0.561000	0.74099	GAG		0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		33	190	0	0	0	0	33	190				
HIRA	7290	broad.mit.edu	37	22	19346902	19346902	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:19346902C>T	ENST00000263208.5	-	18	2447	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Missense_Mutation_p.E687K|HIRA_ENST00000546308.1_Missense_Mutation_p.E687K	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	731	Interaction with PAX3. {ECO:0000250}.|Interaction with histone H2B.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGTACCGTCTCCCACTCCTTC	0.602																																						uc002zpf.1		NA																	0				ovary(1)	1						c.(2191-2193)GAG>AAG		HIR histone cell cycle regulation defective							152.0	128.0	136.0					22																	19346902		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19346902C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2191G>A	22.37:g.19346902C>T	ENSP00000263208:p.Glu731Lys					HIRA_uc011agx.1_Missense_Mutation_p.E597K|HIRA_uc010grn.1_Intron|HIRA_uc010gro.1_Missense_Mutation_p.E687K|HIRA_uc010grp.2_RNA	p.E731K	NM_003325	NP_003316	P54198	HIRA_HUMAN			18	2411	-	Colorectal(54;0.0993)		731			Interaction with PAX3 (By similarity).|Interaction with histone H2B.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.2191G>A	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170212	0.78452	.	.	ENSG00000100084	ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T	0.71698	-0.59;-0.43;-0.32	5.33	5.33	0.75918	.	0.175116	0.51477	D	0.000087	T	0.59595	0.2205	L	0.27053	0.805	0.80722	D	1	P;P	0.47910	0.902;0.501	B;B	0.43301	0.415;0.054	T	0.57522	-0.7797	10	0.07030	T	0.85	-27.4084	19.212	0.93760	0.0:1.0:0.0:0.0	.	687;731	F5H4M2;P54198	.;HIRA_HUMAN	K	731;687;240;687	ENSP00000263208:E731K;ENSP00000446073:E687K;ENSP00000441870:E687K	ENSP00000263208:E731K	E	-	1	0	HIRA	17726902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.352000	0.66028	2.778000	0.95560	0.655000	0.94253	GAG		0.602	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		38	35	0	0	0	0	38	35				
TRMT2A	27037	broad.mit.edu	37	22	20103246	20103246	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:20103246C>T	ENST00000252136.7	-	3	1045	c.657G>A	c.(655-657)aaG>aaA	p.K219K	TRMT2A_ENST00000403707.3_Silent_p.K219K|TRMT2A_ENST00000439169.2_Silent_p.K219K|TRMT2A_ENST00000404751.3_Silent_p.K219K|TRMT2A_ENST00000492988.1_5'Flank|RANBP1_ENST00000402752.1_5'Flank|RANBP1_ENST00000430524.1_5'Flank|RANBP1_ENST00000331821.3_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	219					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CCTTGTTGTGCTTGTGCCTCT	0.602																																						uc002zrk.1		NA																	0				breast(1)	1						c.(655-657)AAG>AAA		HpaII tiny fragments locus 9C							47.0	44.0	45.0					22																	20103246		2202	4300	6502	SO:0001819	synonymous_variant	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20103246C>T	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.657G>A	22.37:g.20103246C>T						TRMT2A_uc002zrl.1_Silent_p.K219K|TRMT2A_uc002zrm.1_Silent_p.K41K|TRMT2A_uc002zrn.1_Silent_p.K219K|TRMT2A_uc011ahk.1_Silent_p.K219K|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	p.K219K	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			4	872	-			219					D3DX25|Q32P57|Q96ME6|Q9H732	Silent	SNP	ENST00000252136.7	37	c.657G>A	CCDS13774.1																																																																																				0.602	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		10	19	0	0	0	0	10	19				
ASPHD2	57168	broad.mit.edu	37	22	26829615	26829615	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:26829615G>C	ENST00000215906.5	+	2	472	c.34G>C	c.(34-36)Gat>Cat	p.D12H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	12					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CCCGAGGACTGATTGTCTGAC	0.652																																						uc003acg.2		NA																	0				ovary(1)	1						c.(34-36)GAT>CAT		aspartate beta-hydroxylase domain containing 2							57.0	51.0	53.0					22																	26829615		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26829615G>C	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.34G>C	22.37:g.26829615G>C	ENSP00000215906:p.Asp12His						p.D12H	NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN			2	431	+			12			Cytoplasmic (Potential).		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.34G>C	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	5.959	0.360903	0.11296	.	.	ENSG00000128203	ENST00000215906	T	0.47528	0.84	5.14	3.91	0.45181	.	1.922540	0.02862	N	0.130436	T	0.32466	0.0830	N	0.08118	0	0.09310	N	1	B	0.29085	0.232	B	0.27796	0.083	T	0.21415	-1.0246	10	0.66056	D	0.02	.	8.6417	0.33981	0.0901:0.0:0.7557:0.1542	.	12	Q6ICH7	ASPH2_HUMAN	H	12	ENSP00000215906:D12H	ENSP00000215906:D12H	D	+	1	0	ASPHD2	25159615	0.999000	0.42202	0.960000	0.40013	0.355000	0.29361	1.782000	0.38654	2.392000	0.81423	0.563000	0.77884	GAT		0.652	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		11	20	0	0	0	0	11	20				
ARFGAP3	26286	broad.mit.edu	37	22	43206867	43206867	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:43206867G>T	ENST00000263245.5	-	12	1367	c.1148C>A	c.(1147-1149)aCc>aAc	p.T383N	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.T339N|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.T311N	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	383					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						ATCTTTGCTGGTCTCTTTTTT	0.428																																					GBM(58;544 1030 21460 27159 48838)	uc003bdd.2		NA																	0				breast(1)	1						c.(1147-1149)ACC>AAC		ADP-ribosylation factor GTPase activating							155.0	149.0	151.0					22																	43206867		2203	4300	6503	SO:0001583	missense	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43206867G>T	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1148C>A	22.37:g.43206867G>T	ENSP00000263245:p.Thr383Asn					ARFGAP3_uc010gzf.2_Missense_Mutation_p.T339N	p.T383N	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN			12	1368	-			383					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	c.1148C>A	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	G	8.632	0.894017	0.17613	.	.	ENSG00000242247	ENST00000263245;ENST00000429508;ENST00000437119	T;T;T	0.05786	3.53;3.39;3.51	5.13	1.49	0.22878	.	0.337220	0.27991	N	0.017037	T	0.05090	0.0136	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40701	-0.9549	10	0.22109	T	0.4	-26.3766	9.1523	0.36971	0.0951:0.6099:0.295:0.0	.	339;383	E9PB03;Q9NP61	.;ARFG3_HUMAN	N	383;311;339	ENSP00000263245:T383N;ENSP00000393959:T311N;ENSP00000388791:T339N	ENSP00000263245:T383N	T	-	2	0	ARFGAP3	41536811	0.005000	0.15991	0.002000	0.10522	0.742000	0.42306	0.354000	0.20146	0.465000	0.27167	0.655000	0.94253	ACC		0.428	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		50	67	1	0	2.29e-23	2.52e-23	50	67				
TBC1D22A	25771	broad.mit.edu	37	22	47393590	47393590	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:47393590G>A	ENST00000337137.4	+	10	1352	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.V337M|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.V318M|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.V349M	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	396	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGAAGAACTCGTGAGCCGGAT	0.507																																						uc003bib.2		NA																	0				ovary(1)	1						c.(1186-1188)GTG>ATG		TBC1 domain family, member 22A							70.0	68.0	68.0					22																	47393590		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47393590G>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1186G>A	22.37:g.47393590G>A	ENSP00000336724:p.Val396Met					TBC1D22A_uc010haf.2_Missense_Mutation_p.V366M|TBC1D22A_uc003bic.2_Missense_Mutation_p.V337M|TBC1D22A_uc003bie.2_Missense_Mutation_p.V318M|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.V349M	p.V396M	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	10	1321	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	396			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.1186G>A	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096019	0.76870	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.66	5.66	0.87406	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.46741	1.465	0.80722	D	1	D;D;D;D	0.67145	0.996;0.978;0.992;0.996	P;P;P;P	0.58520	0.84;0.554;0.682;0.84	T	0.05666	-1.0871	10	0.45353	T	0.12	.	18.3283	0.90260	0.0:0.0:1.0:0.0	.	396;318;337;396	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	M	396;337;318;349	ENSP00000336724:V396M;ENSP00000384036:V337M;ENSP00000347932:V318M;ENSP00000385634:V349M	ENSP00000336724:V396M	V	+	1	0	TBC1D22A	45772254	1.000000	0.71417	0.959000	0.39883	0.968000	0.65278	6.335000	0.72949	2.654000	0.90174	0.650000	0.86243	GTG		0.507	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		43	52	0	0	0	0	43	52				
TTLL3	26140	broad.mit.edu	37	3	9877030	9877030	+	Nonsense_Mutation	SNP	C	C	T	rs373552783		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:9877030C>T	ENST00000547186.1	+	13	2392	c.2176C>T	c.(2176-2178)Cga>Tga	p.R726*	ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000426895.4_Nonsense_Mutation_p.R869*|TTLL3_ENST00000430793.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	726					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GCCCCTGCTTCGATTCCCCAC	0.547																																						uc003btg.2		NA																	0				large_intestine(2)	2						c.(2176-2178)CGA>TGA		tubulin tyrosine ligase-like family, member 3		C	stop/ARG,	1,3743		0,1,1871	83.0	88.0	86.0		2605,	-2.5	0.0	3		86	1,8189		0,1,4094	no	stop-gained,utr-3	TTLL3,ARPC4-TTLL3	NM_001025930.3,NM_001198793.1	,	0,2,5965	TT,TC,CC		0.0122,0.0267,0.0168	,	869/916,	9877030	2,11932	1872	4095	5967	SO:0001587	stop_gained	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9877030C>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.2176C>T	3.37:g.9877030C>T	ENSP00000446659:p.Arg726*					ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_3'UTR|TTLL3_uc003btf.3_3'UTR|TTLL3_uc003bth.3_3'UTR|TTLL3_uc011atj.1_3'UTR|TTLL3_uc003btj.3_3'UTR|TTLL3_uc003bti.3_3'UTR	p.R726*	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN			13	2392	+	Medulloblastoma(99;0.227)		726					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Nonsense_Mutation	SNP	ENST00000547186.1	37	c.2176C>T		.	.	.	.	.	.	.	.	.	.	C	18.49	3.635118	0.67130	2.67E-4	1.22E-4	ENSG00000214021	ENST00000426895;ENST00000547186	.	.	.	3.83	-2.55	0.06288	.	111.962000	0.00610	U	0.000405	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6009	0.33745	0.0:0.3816:0.0:0.6184	.	.	.	.	X	869;726	.	ENSP00000392549:R869X	R	+	1	2	TTLL3	9852030	0.001000	0.12720	0.004000	0.12327	0.010000	0.07245	0.140000	0.16056	-0.539000	0.06273	-1.069000	0.02264	CGA		0.547	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		45	12	0	0	0	0	45	12				
SATB1	6304	broad.mit.edu	37	3	18391090	18391090	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:18391090G>T	ENST00000338745.6	-	11	3598	c.1864C>A	c.(1864-1866)Cct>Act	p.P622T	SATB1_ENST00000454909.2_Missense_Mutation_p.P622T|SATB1_ENST00000417717.2_Missense_Mutation_p.P654T|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	622					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGGAGCCGAGGGCCTGTCTGT	0.607																																						uc003cbh.2		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(1864-1866)CCT>ACT		special AT-rich sequence binding protein 1							20.0	24.0	23.0					3																	18391090		2196	4295	6491	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18391090G>T		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1864C>A	3.37:g.18391090G>T	ENSP00000341024:p.Pro622Thr					SATB1_uc003cbi.2_Missense_Mutation_p.P654T|SATB1_uc003cbj.2_Missense_Mutation_p.P622T	p.P622T	NM_002971	NP_002962	Q01826	SATB1_HUMAN			11	3599	-			622					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.1864C>A	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632151	0.29068	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.24723	1.84;1.84;1.92	5.08	5.08	0.68730	.	0.117135	0.64402	D	0.000015	T	0.29223	0.0727	L	0.29908	0.895	0.80722	D	1	D;D	0.55172	0.969;0.97	P;P	0.50314	0.637;0.589	T	0.01657	-1.1302	10	0.25751	T	0.34	-15.4982	18.4734	0.90782	0.0:0.0:1.0:0.0	.	654;622	Q01826-2;Q01826	.;SATB1_HUMAN	T	622;622;654	ENSP00000341024:P622T;ENSP00000399708:P622T;ENSP00000399518:P654T	ENSP00000341024:P622T	P	-	1	0	SATB1	18366094	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	7.266000	0.78452	2.350000	0.79820	0.462000	0.41574	CCT		0.607	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		22	4	1	0	2.71e-06	2.87e-06	22	4				
ENTPD3	956	broad.mit.edu	37	3	40457535	40457535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:40457535G>T	ENST00000301825.3	+	7	920	c.802G>T	c.(802-804)Gag>Tag	p.E268*	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Nonsense_Mutation_p.E268*|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Nonsense_Mutation_p.E268*	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	268					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GAATGAGGCTGAGAAGAAGTT	0.552																																						uc003ckd.3		NA																	0				ovary(1)	1						c.(802-804)GAG>TAG		ectonucleoside triphosphate diphosphohydrolase							85.0	71.0	76.0					3																	40457535		2203	4300	6503	SO:0001587	stop_gained	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40457535G>T	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.802G>T	3.37:g.40457535G>T	ENSP00000301825:p.Glu268*					ENTPD3_uc010hhy.2_Nonsense_Mutation_p.E268*|uc003cke.3_Intron	p.E268*	NM_001248	NP_001239	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	7	894	+			268			Extracellular (Potential).		B2R8D0|G5E9N0|O60495|Q8N6K2	Nonsense_Mutation	SNP	ENST00000301825.3	37	c.802G>T	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	G	37	5.999997	0.97189	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	.	.	.	5.38	5.38	0.77491	.	0.092595	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-24.2202	17.0019	0.86383	0.0:0.0:1.0:0.0	.	.	.	.	X	268	.	ENSP00000301825:E268X	E	+	1	0	ENTPD3	40432539	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.454000	0.66651	2.680000	0.91292	0.655000	0.94253	GAG		0.552	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		15	5	1	0	4.15e-12	4.5e-12	15	5				
USP19	10869	broad.mit.edu	37	3	49149394	49149394	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:49149394G>A	ENST00000398888.2	-	19	2862	c.2544C>T	c.(2542-2544)gcC>gcT	p.A848A	USP19_ENST00000453664.1_Silent_p.A939A|USP19_ENST00000434032.2_Silent_p.A949A|USP19_ENST00000398896.1_Silent_p.A656A|USP19_ENST00000398898.2_Silent_p.A888A|USP19_ENST00000417901.1_Silent_p.A951A|USP19_ENST00000398892.3_Silent_p.A888A	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	848	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAGGCGTGAGGCAGGTACAC	0.607																																						uc003cwd.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(2542-2544)GCC>GCT		ubiquitin thioesterase 19							85.0	90.0	89.0					3																	49149394		2112	4220	6332	SO:0001819	synonymous_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49149394G>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2544C>T	3.37:g.49149394G>A						USP19_uc003cwa.2_Silent_p.A656A|USP19_uc003cvz.3_Silent_p.A951A|USP19_uc011bcg.1_Silent_p.A939A|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.A606A|USP19_uc011bch.1_Silent_p.A949A	p.A848A	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	19	2705	-			848			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	c.2544C>T	CCDS43090.1																																																																																				0.607	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		14	7	0	0	0	0	14	7				
GNL3	26354	broad.mit.edu	37	3	52720819	52720819	+	Silent	SNP	T	T	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:52720819T>C	ENST00000418458.1	+	2	221	c.48T>C	c.(46-48)caT>caC	p.H16H	SNORD19_ENST00000391191.1_RNA|GNL3_ENST00000394799.2_Silent_p.H4H|GNL3_ENST00000460073.1_Intron|SNORD19B_ENST00000516978.1_RNA|PBRM1_ENST00000394830.3_5'Flank	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	16	Basic. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TGACCTGCCATAAGCGGTATA	0.398																																						uc003dfd.2		NA																	0					0						c.(46-48)CAT>CAC		guanine nucleotide binding protein-like 3							93.0	88.0	89.0					3																	52720819		2203	4300	6503	SO:0001819	synonymous_variant	26354				regulation of cell proliferation	nucleolus	GTP binding|protein binding	g.chr3:52720819T>C	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.48T>C	3.37:g.52720819T>C						PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Silent_p.H4H|GNL3_uc003dff.2_Silent_p.H4H|SNORD19_uc003dfg.1_5'Flank	p.H16H	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)	2	221	+			16			Basic (By similarity).		B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Silent	SNP	ENST00000418458.1	37	c.48T>C	CCDS2861.1																																																																																				0.398	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	NM_014366		18	7	0	0	0	0	18	7				
ITIH1	3697	broad.mit.edu	37	3	52825552	52825552	+	Silent	SNP	C	C	T	rs143276781	byFrequency	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:52825552C>T	ENST00000273283.2	+	21	2538	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	ITIH1_ENST00000405128.3_Silent_p.I204I|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.I696I|ITIH1_ENST00000537050.1_Silent_p.I550I	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	838	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I838I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCCACCCCATCGGTTTTGAAG	0.597																																						uc003dfs.2		NA																	1	Substitution - coding silent(1)		NS(1)	ovary(3)	3						c.(2512-2514)ATC>ATT		inter-alpha (globulin) inhibitor H1		C	,,,	1,4405	2.1+/-5.4	0,1,2202	87.0	83.0	84.0		2088,1650,1650,2514	-3.4	0.1	3	dbSNP_134	84	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ITIH1	NM_001166434.1,NM_001166435.1,NM_001166436.1,NM_002215.2	,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,	696/770,550/624,550/624,838/912	52825552	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52825552C>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2514C>T	3.37:g.52825552C>T						ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.I439I|ITIH1_uc010hmo.1_Silent_p.I392I|ITIH1_uc003dfu.2_Silent_p.I204I	p.I838I	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	21	2538	+			838			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.2514C>T	CCDS2864.1																																																																																				0.597	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		21	4	0	0	0	0	21	4				
DCP1A	55802	broad.mit.edu	37	3	53376252	53376252	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:53376252T>C	ENST00000607628.1	-	3	332	c.223A>G	c.(223-225)Atg>Gtg	p.M75V	DCP1A_ENST00000606822.1_Missense_Mutation_p.M75V|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.M75V	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	75					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		AGATTGTGCATATTTAGTCGA	0.318																																						uc003dgs.3		NA																	0					0						c.(223-225)ATG>GTG		DCP1 decapping enzyme homolog A							56.0	55.0	55.0					3																	53376252		1822	4078	5900	SO:0001583	missense	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53376252T>C	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.223A>G	3.37:g.53376252T>C	ENSP00000475920:p.Met75Val					DCP1A_uc003dgt.3_RNA	p.M75V	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	3	316	-			75					B4DHN9|U3KQM8	Missense_Mutation	SNP	ENST00000607628.1	37	c.223A>G																																																																																					0.318	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		7	1	0	0	0	0	7	1				
PHLDB2	90102	broad.mit.edu	37	3	111637948	111637948	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:111637948A>T	ENST00000431670.2	+	4	2160	c.1749A>T	c.(1747-1749)agA>agT	p.R583S	PHLDB2_ENST00000481953.1_Missense_Mutation_p.R583S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R583S|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R583S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R610S|PHLDB2_ENST00000495180.1_Missense_Mutation_p.R169S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	583						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGAACAGAGATCTCAGGAGT	0.403																																						uc010hqa.2		NA																	0				ovary(4)|skin(2)	6						c.(1747-1749)AGA>AGT		pleckstrin homology-like domain, family B,							141.0	145.0	144.0					3																	111637948		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111637948A>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1749A>T	3.37:g.111637948A>T	ENSP00000405405:p.Arg583Ser					PHLDB2_uc003dyc.2_Missense_Mutation_p.R610S|PHLDB2_uc003dyd.2_Missense_Mutation_p.R583S|PHLDB2_uc003dyg.2_Missense_Mutation_p.R583S|PHLDB2_uc003dyh.2_Missense_Mutation_p.R583S|PHLDB2_uc003dyi.2_Missense_Mutation_p.R169S	p.R583S	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			4	2160	+			583					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1749A>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.092071	0.36952	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.36699	1.28;1.28;1.29;1.24;1.28;1.29;1.61	5.55	2.51	0.30379	.	0.416890	0.27185	N	0.020537	T	0.30386	0.0763	L	0.54323	1.7	0.25134	N	0.990549	B;B;B;B	0.31837	0.192;0.023;0.042;0.342	B;B;B;B	0.37943	0.042;0.013;0.031;0.261	T	0.24941	-1.0146	10	0.09338	T	0.73	.	7.4026	0.26973	0.3949:0.0:0.6051:0.0	.	169;583;583;610	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	S	610;610;583;583;583;583;583;169	ENSP00000377500:R610S;ENSP00000405405:R583S;ENSP00000405292:R583S;ENSP00000418296:R583S;ENSP00000377502:R583S;ENSP00000418319:R583S;ENSP00000420303:R169S	ENSP00000352764:R610S	R	+	3	2	PHLDB2	113120638	0.810000	0.29049	0.599000	0.28851	0.808000	0.45660	0.967000	0.29344	0.263000	0.21812	-0.408000	0.06270	AGA		0.403	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		53	157	0	0	0	0	53	157				
KALRN	8997	broad.mit.edu	37	3	124053163	124053163	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:124053163C>T	ENST00000240874.3	+	9	1619	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	KALRN_ENST00000360013.3_Missense_Mutation_p.P488S|KALRN_ENST00000460856.1_Missense_Mutation_p.P488S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	488					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCCCCTGAGCCCTGGGAACTC	0.567																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(1462-1464)CCT>TCT		kalirin, RhoGEF kinase isoform 1							97.0	99.0	98.0					3																	124053163		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124053163C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1462C>T	3.37:g.124053163C>T	ENSP00000240874:p.Pro488Ser					KALRN_uc010hrv.1_Missense_Mutation_p.P488S|KALRN_uc003ehf.1_Missense_Mutation_p.P488S|KALRN_uc011bjy.1_Missense_Mutation_p.P488S	p.P488S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			9	1589	+			488					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1462C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311736	0.40895	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.39592	1.07;1.07;1.07	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	M	0.74258	2.255	0.80722	D	1	B;D;D	0.89917	0.361;1.0;1.0	B;D;D	0.80764	0.132;0.994;0.99	T	0.57487	-0.7803	10	0.17369	T	0.5	.	18.7978	0.92003	0.0:1.0:0.0:0.0	.	488;488;488	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	S	488	ENSP00000418611:P488S;ENSP00000240874:P488S;ENSP00000353109:P488S	ENSP00000240874:P488S	P	+	1	0	KALRN	125535853	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	7.609000	0.82925	2.735000	0.93741	0.655000	0.94253	CCT		0.567	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		35	100	0	0	0	0	35	100				
CLDN1	9076	broad.mit.edu	37	3	190026161	190026161	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:190026161G>A	ENST00000295522.3	-	4	809	c.541C>T	c.(541-543)Cta>Tta	p.L181L		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	181					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CAGCAAAGTAGGGCACCTCCC	0.512																																						uc003fsh.2		NA																	0				lung(1)	1						c.(541-543)CTA>TTA		claudin 1							159.0	149.0	152.0					3																	190026161		2203	4300	6503	SO:0001819	synonymous_variant	9076				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:190026161G>A	AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"""Claudins"""	2032	protein-coding gene	gene with protein product	"""senescence-associated epithelial membrane protein 1"""	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.541C>T	3.37:g.190026161G>A							p.L181L	NM_021101	NP_066924	O95832	CLD1_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)	4	761	-	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		181			Helical; (Potential).			Silent	SNP	ENST00000295522.3	37	c.541C>T	CCDS3295.1																																																																																				0.512	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343516.2	NM_021101		22	119	0	0	0	0	22	119				
ATP13A5	344905	broad.mit.edu	37	3	193068904	193068904	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:193068904G>A	ENST00000342358.4	-	7	810	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	231						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGTCAAAATGATGATGGCCA	0.393																																						uc011bsq.1		NA																	0				ovary(5)|skin(4)|large_intestine(2)	11						c.(691-693)ATC>ATT		ATPase type 13A5							120.0	110.0	113.0					3																	193068904		2203	4300	6503	SO:0001819	synonymous_variant	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193068904G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.693C>T	3.37:g.193068904G>A							p.I231I	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	7	693	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		231			Helical; (Potential).		Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	c.693C>T	CCDS33914.1																																																																																				0.393	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		30	58	0	0	0	0	30	58				
SENP5	205564	broad.mit.edu	37	3	196657755	196657755	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:196657755G>C	ENST00000323460.5	+	10	2478	c.2229G>C	c.(2227-2229)agG>agC	p.R743S	SENP5_ENST00000419026.1_Missense_Mutation_p.R233S|SENP5_ENST00000445299.2_Missense_Mutation_p.R697S	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	743					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TGCGGAAGAGGATTTACAAGG	0.488																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3		NA																	0				breast(2)|lung(1)	3						c.(2227-2229)AGG>AGC		SUMO1/sentrin specific peptidase 5							87.0	86.0	86.0					3																	196657755		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196657755G>C	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.2229G>C	3.37:g.196657755G>C	ENSP00000327197:p.Arg743Ser					SENP5_uc011bty.1_Missense_Mutation_p.R697S	p.R743S	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	10	2478	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		743					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.2229G>C	CCDS3322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.87|19.87	3.907904|3.907904	0.72868|0.72868	.|.	.|.	ENSG00000119231|ENSG00000119231	ENST00000448068;ENST00000434433|ENST00000323460;ENST00000445299;ENST00000419026	.|T;T;T	.|0.32023	.|1.47;1.47;1.47	5.85|5.85	3.08|3.08	0.35506|0.35506	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51584|0.51584	0.1683|0.1683	M|M	0.78344|0.78344	2.41|2.41	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.49194|0.49194	-0.8965|-0.8965	5|10	.|0.66056	.|D	.|0.02	-12.6589|-12.6589	7.7861|7.7861	0.29093|0.29093	0.149:0.1348:0.7163:0.0|0.149:0.1348:0.7163:0.0	.|.	.|697;743	.|B4DY82;Q96HI0	.|.;SENP5_HUMAN	A|S	86;64|743;697;233	.|ENSP00000327197:R743S;ENSP00000390231:R697S;ENSP00000396927:R233S	.|ENSP00000327197:R743S	G|R	+|+	2|3	0|2	SENP5|SENP5	198142152|198142152	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.774000|2.774000	0.47694|0.47694	0.476000|0.476000	0.27440|0.27440	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.488	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		22	61	0	0	0	0	22	61				
CEP135	9662	broad.mit.edu	37	4	56841014	56841014	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr4:56841014A>G	ENST00000257287.4	+	11	1476	c.1352A>G	c.(1351-1353)gAa>gGa	p.E451G		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	451					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AAAGGTATAGAAGAAGAACGA	0.388																																						uc003hbi.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1351-1353)GAA>GGA		centrosome protein 4							81.0	83.0	82.0					4																	56841014		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56841014A>G	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1352A>G	4.37:g.56841014A>G	ENSP00000257287:p.Glu451Gly					CEP135_uc003hbj.2_Missense_Mutation_p.E157G	p.E451G	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			11	1586	+	Glioma(25;0.08)|all_neural(26;0.101)		451			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.1352A>G	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694923	0.88830	.	.	ENSG00000174799	ENST00000257287	T	0.59906	0.23	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.74881	2.28	0.52501	D	0.999954	D	0.89917	1.0	D	0.87578	0.998	T	0.79085	-0.1948	10	0.72032	D	0.01	.	16.3034	0.82836	1.0:0.0:0.0:0.0	.	451	Q66GS9	CP135_HUMAN	G	451	ENSP00000257287:E451G	ENSP00000257287:E451G	E	+	2	0	CEP135	56535771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.129000	0.77225	2.245000	0.73994	0.454000	0.30748	GAA		0.388	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		30	44	0	0	0	0	30	44				
GRIA2	2891	broad.mit.edu	37	4	158254056	158254056	+	Missense_Mutation	SNP	G	G	A	rs142538282	byFrequency	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr4:158254056G>A	ENST00000264426.9	+	7	1247	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	GRIA2_ENST00000449365.1_Missense_Mutation_p.R276Q|GRIA2_ENST00000393815.2_Missense_Mutation_p.R276Q|GRIA2_ENST00000296526.7_Missense_Mutation_p.R323Q|GRIA2_ENST00000507898.1_Missense_Mutation_p.R276Q	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	323					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	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)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	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(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAAATCTCCCGAAGGGGGAAT	0.478																																						uc003ipm.3		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(967-969)CGA>CAA		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)	G	GLN/ARG,GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	67.0	75.0	73.0		968,968,827	5.1	1.0	4	dbSNP_134	73	0,8598		0,0,4299	yes	missense,missense,missense	GRIA2	NM_000826.3,NM_001083619.1,NM_001083620.1	43,43,43	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign	323/884,323/884,276/837	158254056	3,13001	2203	4299	6502	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158254056G>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.968G>A	4.37:g.158254056G>A	ENSP00000264426:p.Arg323Gln					GRIA2_uc011cit.1_Missense_Mutation_p.R276Q|GRIA2_uc003ipl.3_Missense_Mutation_p.R323Q|GRIA2_uc003ipk.3_Missense_Mutation_p.R276Q|GRIA2_uc010iqh.1_RNA	p.R323Q	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	7	1427	+	all_hematologic(180;0.24)	Renal(120;0.0458)	323			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.968G>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479759	0.84747	6.81E-4	0.0	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.09	5.09	0.68999	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86569	0.5964	M	0.78049	2.395	0.80722	D	1	B;P;P	0.46706	0.242;0.883;0.632	B;P;B	0.46110	0.148;0.504;0.039	D	0.88511	0.3089	10	0.59425	D	0.04	.	18.4737	0.90783	0.0:0.0:1.0:0.0	.	323;323;276	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	Q	276;276;323;323;276	ENSP00000426845:R276Q;ENSP00000377403:R276Q;ENSP00000296526:R323Q;ENSP00000264426:R323Q;ENSP00000389837:R276Q	ENSP00000264426:R323Q	R	+	2	0	GRIA2	158473506	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.869000	0.99810	2.341000	0.79615	0.557000	0.71058	CGA		0.478	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			39	57	0	0	0	0	39	57				
PTCD2	79810	broad.mit.edu	37	5	71654182	71654182	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr5:71654182G>A	ENST00000380639.5	+	10	1111	c.1095G>A	c.(1093-1095)acG>acA	p.T365T	PTCD2_ENST00000503868.1_Silent_p.T256T|PTCD2_ENST00000536805.1_Silent_p.T193T|CTC-365E16.1_ENST00000606310.1_lincRNA|PTCD2_ENST00000460837.2_3'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	365					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		AATCTCACACGTTGCTATTAA	0.532																																						uc003kcb.2		NA																	0					0						c.(1093-1095)ACG>ACA		pentatricopeptide repeat domain 2							86.0	73.0	78.0					5																	71654182		2203	4300	6503	SO:0001819	synonymous_variant	79810							g.chr5:71654182G>A	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.1095G>A	5.37:g.71654182G>A						PTCD2_uc011csf.1_Silent_p.T175T|PTCD2_uc003kcc.2_Silent_p.T213T|PTCD2_uc011csg.1_Silent_p.T193T|PTCD2_uc011csh.1_Silent_p.T256T|PTCD2_uc003kcd.2_RNA	p.T365T	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	10	1105	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	365					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Silent	SNP	ENST00000380639.5	37	c.1095G>A	CCDS4014.2																																																																																				0.532	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		31	23	0	0	0	0	31	23				
MARCH3	115123	broad.mit.edu	37	5	126206381	126206381	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr5:126206381G>C	ENST00000308660.5	-	5	1220	c.706C>G	c.(706-708)Ccg>Gcg	p.P236A		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	236					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AGCAAGGACGGCTGGTTAGAA	0.463																																						uc003kuf.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(706-708)CCG>GCG		membrane-associated ring finger (C3HC4) 3							126.0	112.0	117.0					5																	126206381		2203	4300	6503	SO:0001583	missense	115123				endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	g.chr5:126206381G>C	AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28728	protein-coding gene	gene with protein product		613333	"""membrane-associated ring finger (C3HC4) 3"""			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.706C>G	5.37:g.126206381G>C	ENSP00000309141:p.Pro236Ala						p.P236A	NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)	5	1161	-		Prostate(80;0.0928)	236					A8K264|B9EJE7	Missense_Mutation	SNP	ENST00000308660.5	37	c.706C>G	CCDS4141.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414991	0.42817	.	.	ENSG00000173926	ENST00000308660	T	0.16073	2.37	4.67	3.8	0.43715	.	0.086607	0.49916	D	0.000135	T	0.15003	0.0362	L	0.36672	1.1	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.05209	-1.0899	10	0.25751	T	0.34	-4.6627	15.384	0.74681	0.0:0.0:0.8594:0.1406	.	236	Q86UD3	MARH3_HUMAN	A	236	ENSP00000309141:P236A	ENSP00000309141:P236A	P	-	1	0	MARCH3	126234280	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.044000	0.76578	1.572000	0.49736	0.655000	0.94253	CCG		0.463	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250955.2	NM_178450		35	79	0	0	0	0	35	79				
KLHL3	26249	broad.mit.edu	37	5	136974777	136974777	+	Missense_Mutation	SNP	G	G	A	rs200892557		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr5:136974777G>A	ENST00000309755.4	-	10	1527	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	KLHL3_ENST00000506491.1_Missense_Mutation_p.R280W|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000508657.1_Missense_Mutation_p.R330W|KLHL3_ENST00000541417.1_Intron	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	362			R -> W (in PHA2D; dbSNP:rs200892557). {ECO:0000269|PubMed:22406640}.		distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TCCACTGTCCGCACCCGCAGT	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17674	0.0		0.0	False		,,,				2504	0.0					uc010jek.2		NA																	0					0						c.(1084-1086)CGG>TGG		kelch-like 3							87.0	65.0	72.0					5																	136974777		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136974777G>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1084C>T	5.37:g.136974777G>A	ENSP00000312397:p.Arg362Trp					KLHL3_uc011cyc.1_Missense_Mutation_p.R131W|KLHL3_uc003lbr.3_Missense_Mutation_p.R280W|KLHL3_uc011cyd.1_Intron|KLHL3_uc010jel.1_Missense_Mutation_p.R131W|KLHL3_uc010jem.1_Missense_Mutation_p.R322W	p.R362W	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	10	1528	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	362			Kelch 2.		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.1084C>T	CCDS4192.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	27.6	4.843558	0.91197	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000505853	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	4.69	3.79	0.43588	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.91334	0.7267	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.994;1.0;1.0	D	0.93865	0.7157	10	0.87932	D	0	.	14.3552	0.66733	0.0:0.0:0.8506:0.1494	.	131;322;330;362	B7Z6E2;D6RH21;Q9UH77-2;Q9UH77	.;.;.;KLHL3_HUMAN	W	280;330;362;322	ENSP00000424828:R280W;ENSP00000422099:R330W;ENSP00000312397:R362W;ENSP00000426173:R322W	ENSP00000312397:R362W	R	-	1	2	KLHL3	137002676	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.246000	0.65411	1.276000	0.44395	0.561000	0.74099	CGG		0.592	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			3	31	0	0	0	0	3	31				
MFAP3	4238	broad.mit.edu	37	5	153429537	153429537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr5:153429537G>A	ENST00000436816.1	+	2	474	c.255G>A	c.(253-255)tgG>tgA	p.W85*	MFAP3_ENST00000439768.2_Intron|MFAP3_ENST00000322602.5_Nonsense_Mutation_p.W85*	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	85	Ig-like C2-type.				extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGTCCATTGGCACAATTCAA	0.418																																						uc003lvf.2		NA																	0					0						c.(253-255)TGG>TGA		microfibrillar-associated protein 3 isoform 2							67.0	64.0	65.0					5																	153429537		2203	4300	6503	SO:0001587	stop_gained	4238					integral to membrane|plasma membrane		g.chr5:153429537G>A		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.255G>A	5.37:g.153429537G>A	ENSP00000409933:p.Trp85*					MFAP3_uc010jib.2_Nonsense_Mutation_p.W85*|MFAP3_uc011ddb.1_Intron	p.W85*	NM_001135037	NP_001128509	P55082	MFAP3_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)	2	771	+	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	85			Ig-like C2-type.|Extracellular (Potential).		B2RDK0|B4DKA1|Q9NXA7	Nonsense_Mutation	SNP	ENST00000436816.1	37	c.255G>A	CCDS4324.1	.	.	.	.	.	.	.	.	.	.	G	37	6.382613	0.97520	.	.	ENSG00000037749	ENST00000522782;ENST00000436816;ENST00000322602;ENST00000522177	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8037	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	X	85	.	ENSP00000322956:W85X	W	+	3	0	MFAP3	153409730	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.605000	0.90883	2.865000	0.98341	0.655000	0.94253	TGG		0.418	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927		18	32	0	0	0	0	18	32				
BTN3A3	10384	broad.mit.edu	37	6	26448955	26448955	+	Splice_Site	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:26448955G>A	ENST00000244519.2	+	8	1180		c.e8-1		BTN3A3_ENST00000361232.3_Splice_Site|BTN3A3_ENST00000339789.4_Splice_Site	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3						T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TTCCATTGCAGAGTGGAGGAA	0.448																																						uc003nhz.2		NA																	0					0						c.e8-1		butyrophilin, subfamily 3, member A3 isoform a							219.0	216.0	217.0					6																	26448955		2203	4300	6503	SO:0001630	splice_region_variant	10384					integral to membrane		g.chr6:26448955G>A	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.938-1G>A	6.37:g.26448955G>A						BTN3A3_uc003nia.2_Splice_Site_p.K271_splice|BTN3A3_uc011dkn.1_Splice_Site_p.E264_splice	p.K313_splice	NM_006994	NP_008925	O00478	BT3A3_HUMAN			8	1118	+								B4DWI7|E9PCP5	Splice_Site	SNP	ENST00000244519.2	37	c.938_splice	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	G	8.345	0.829636	0.16749	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000490254	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4021	0.44235	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTN3A3	26556934	0.982000	0.34865	0.046000	0.18839	0.060000	0.15804	2.194000	0.42668	1.699000	0.51192	0.455000	0.32223	.		0.448	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994	Intron	47	72	0	0	0	0	47	72				
OR12D2	26529	broad.mit.edu	37	6	29365090	29365090	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:29365090C>G	ENST00000383555.2	+	1	675	c.614C>G	c.(613-615)gCc>gGc	p.A205G	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A205V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGGACAATTGCCATGGGCCCC	0.448																																						uc003nmf.3		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(1)	1						c.(613-615)GCC>GGC		olfactory receptor, family 12, subfamily D,							158.0	162.0	160.0					6																	29365090		1511	2709	4220	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365090C>G		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.614C>G	6.37:g.29365090C>G	ENSP00000373047:p.Ala205Gly						p.A205G	NM_013936	NP_039224	P58182	O12D2_HUMAN			1	675	+			205			Helical; Name=5; (Potential).		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.614C>G	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	0.356	-0.942198	0.02322	.	.	ENSG00000168787	ENST00000383555	T	0.36699	1.24	3.94	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.445622	0.20934	N	0.083047	T	0.07007	0.0178	N	0.20574	0.59	0.09310	N	1	B	0.15473	0.013	B	0.26310	0.068	T	0.35025	-0.9805	10	0.18710	T	0.47	.	4.2229	0.10567	0.0:0.3753:0.4185:0.2062	.	205	P58182	O12D2_HUMAN	G	205	ENSP00000373047:A205G	ENSP00000373047:A205G	A	+	2	0	OR12D2	29473069	0.000000	0.05858	0.005000	0.12908	0.462000	0.32619	-0.662000	0.05305	0.821000	0.34540	0.205000	0.17691	GCC		0.448	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			59	87	0	0	0	0	59	87				
LRRC73	221424	broad.mit.edu	37	6	43476039	43476039	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:43476039G>C	ENST00000372441.1	-	3	1453	c.553C>G	c.(553-555)Ctg>Gtg	p.L185V		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	185																	GCCTCACCCAGGGGGTTGTAA	0.602																																						uc003ovk.1		NA																	0					0						c.(553-555)CTG>GTG		hypothetical protein LOC221424							43.0	44.0	44.0					6																	43476039		2203	4300	6503	SO:0001583	missense	221424							g.chr6:43476039G>C		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.553C>G	6.37:g.43476039G>C	ENSP00000361518:p.Leu185Val					C6orf154_uc003ovj.1_Intron	p.L185V	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		3	1454	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		185			LRR 5.			Missense_Mutation	SNP	ENST00000372441.1	37	c.553C>G	CCDS34456.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906108	0.33628	.	.	ENSG00000204052	ENST00000372441	T	0.59224	0.28	5.32	3.56	0.40772	.	0.000000	0.64402	D	0.000001	T	0.41328	0.1154	L	0.55481	1.735	0.80722	D	1	B	0.30326	0.276	B	0.38921	0.285	T	0.41431	-0.9509	10	0.52906	T	0.07	.	10.0699	0.42325	0.1552:0.0:0.8448:0.0	.	185	Q5JTD7	CF154_HUMAN	V	185	ENSP00000361518:L185V	ENSP00000361518:L185V	L	-	1	2	C6orf154	43584017	1.000000	0.71417	0.980000	0.43619	0.937000	0.57800	2.758000	0.47565	0.632000	0.30432	-0.142000	0.14014	CTG		0.602	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		11	25	0	0	0	0	11	25				
GSTA2	2939	broad.mit.edu	37	6	52615381	52615381	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:52615381C>A	ENST00000493422.1	-	7	818	c.663G>T	c.(661-663)agG>agT	p.R221S		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	221					epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.R221S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	TTTATTAAAACCTGAAAATCT	0.413																																						uc003pay.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(661-663)AGG>AGT		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						109.0	109.0	109.0					6																	52615381		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52615381C>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.663G>T	6.37:g.52615381C>A	ENSP00000420168:p.Arg221Ser						p.R221S	NM_000846	NP_000837	P09210	GSTA2_HUMAN			7	813	-	Lung NSC(77;0.118)		221					Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.663G>T	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	c	6.972	0.549257	0.13374	.	.	ENSG00000244067	ENST00000493422	T	0.01572	4.76	2.32	-2.91	0.05631	Glutathione S-transferase, C-terminal-like (1);	1.985470	0.02320	N	0.072896	T	0.00496	0.0016	N	0.25144	0.715	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.48681	-0.9014	10	0.66056	D	0.02	.	3.5923	0.07993	0.0:0.3956:0.1976:0.4068	.	221	P09210	GSTA2_HUMAN	S	221	ENSP00000420168:R221S	ENSP00000420168:R221S	R	-	3	2	GSTA2	52723340	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.552000	0.06020	-1.019000	0.03358	-0.706000	0.03657	AGG		0.413	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		6	91	1	0	4.1e-09	4.39e-09	6	91				
IGF2R	3482	broad.mit.edu	37	6	160469544	160469544	+	Missense_Mutation	SNP	C	C	T	rs577548757		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:160469544C>T	ENST00000356956.1	+	18	2631	c.2483C>T	c.(2482-2484)tCg>tTg	p.S828L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	828					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)	CGATATGCATCGGCTTGCCAG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		21338	0.0		0.0	False		,,,				2504	0.001					uc003qta.2		NA																	0				ovary(3)	3						c.(2482-2484)TCG>TTG		insulin-like growth factor 2 receptor precursor							97.0	81.0	87.0					6																	160469544		2203	4300	6503	SO:0001583	missense	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.chr6:160469544C>T	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.2483C>T	6.37:g.160469544C>T	ENSP00000349437:p.Ser828Leu						p.S828L	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	18	2631	+		Breast(66;0.000777)|Ovarian(120;0.0305)	828			6.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2483C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410097	0.62399	.	.	ENSG00000197081	ENST00000356956	T	0.02236	4.38	5.16	5.16	0.70880	Mannose-6-phosphate receptor, binding (1);	0.062517	0.64402	D	0.000003	T	0.04679	0.0127	M	0.67569	2.06	0.47819	D	0.999529	D	0.71674	0.998	P	0.52627	0.704	T	0.35798	-0.9774	10	0.72032	D	0.01	-10.4176	18.6415	0.91397	0.0:1.0:0.0:0.0	.	828	P11717	MPRI_HUMAN	L	828	ENSP00000349437:S828L	ENSP00000349437:S828L	S	+	2	0	IGF2R	160389534	0.993000	0.37304	0.000000	0.03702	0.009000	0.06853	7.487000	0.81328	2.402000	0.81655	0.655000	0.94253	TCG		0.483	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		18	6	0	0	0	0	18	6				
PDE1C	5137	broad.mit.edu	37	7	31890345	31890345	+	Missense_Mutation	SNP	G	G	A	rs377062465		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr7:31890345G>A	ENST00000396191.1	-	8	1216	c.761C>T	c.(760-762)aCg>aTg	p.T254M	PDE1C_ENST00000396193.1_Missense_Mutation_p.T314M|PDE1C_ENST00000396184.3_Missense_Mutation_p.T254M|PDE1C_ENST00000321453.7_Missense_Mutation_p.T254M|PDE1C_ENST00000396182.2_Missense_Mutation_p.T254M	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	254	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CTCCAGCTCCGTCAGCCAGTT	0.463																																						uc003tcm.1		NA																	0				skin(3)|central_nervous_system(1)	4						c.(760-762)ACG>ATG		phosphodiesterase 1C		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	134.0	121.0	125.0		761,761,941,761,761	5.9	1.0	7		125	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	PDE1C	NM_001191056.1,NM_001191057.1,NM_001191058.1,NM_001191059.1,NM_005020.2	81,81,81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	254/635,254/710,314/770,254/710,254/635	31890345	1,13005	2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31890345G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.761C>T	7.37:g.31890345G>A	ENSP00000379494:p.Thr254Met					PDE1C_uc003tcn.1_Missense_Mutation_p.T254M|PDE1C_uc003tco.1_Missense_Mutation_p.T314M|PDE1C_uc003tcr.2_Missense_Mutation_p.T254M|PDE1C_uc003tcs.2_Missense_Mutation_p.T254M	p.T254M	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		8	1230	-			254			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.761C>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405567	0.83230	2.27E-4	0.0	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.91	5.91	0.95273	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92815	0.7715	M	0.93328	3.405	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.977;0.99;0.982	D	0.93800	0.7100	10	0.87932	D	0	.	19.9008	0.96985	0.0:0.0:1.0:0.0	.	254;314;254	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	M	314;254;254;254;254	ENSP00000379496:T314M;ENSP00000379494:T254M;ENSP00000318105:T254M;ENSP00000379487:T254M;ENSP00000379485:T254M	ENSP00000318105:T254M	T	-	2	0	PDE1C	31856870	1.000000	0.71417	0.975000	0.42487	0.976000	0.68499	7.863000	0.87023	2.805000	0.96524	0.651000	0.88453	ACG		0.463	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			35	11	0	0	0	0	35	11				
MUC17	140453	broad.mit.edu	37	7	100685655	100685655	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr7:100685655G>A	ENST00000306151.4	+	3	11022	c.10958G>A	c.(10957-10959)gGc>gAc	p.G3653D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3653	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGAGGCTGGCACAGCTTCA	0.493																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(10957-10959)GGC>GAC		mucin 17 precursor							186.0	166.0	173.0					7																	100685655		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685655G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10958G>A	7.37:g.100685655G>A	ENSP00000302716:p.Gly3653Asp					MUC17_uc010lho.1_RNA	p.G3653D	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	11011	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3653			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|58.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10958G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	6.361	0.434763	0.12045	.	.	ENSG00000169876	ENST00000306151	T	0.04654	3.58	1.07	-2.14	0.07123	.	.	.	.	.	T	0.04407	0.0121	N	0.14661	0.345	0.09310	N	1	P	0.46220	0.874	P	0.52066	0.689	T	0.38045	-0.9679	9	0.13853	T	0.58	.	7.2723	0.26264	0.0:0.4256:0.5743:0.0	.	3653	Q685J3	MUC17_HUMAN	D	3653	ENSP00000302716:G3653D	ENSP00000302716:G3653D	G	+	2	0	MUC17	100472375	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.539000	0.02202	-0.631000	0.05560	0.186000	0.17326	GGC		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	177	0	0	0	0	4	177				
ZNF467	168544	broad.mit.edu	37	7	149473162	149473162	+	5'Flank	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr7:149473162C>T	ENST00000302017.3	-	0	0				ZNF467_ENST00000484747.1_5'Flank|SSPO_ENST00000378016.2_RNA	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTTGGGATGGCGTGGGCCCTG	0.652																																						uc010lpk.2		NA																	0					0						c.(31-33)GCG>GTG		SCO-spondin precursor							29.0	33.0	32.0					7																	149473162		1989	4153	6142	SO:0001631	upstream_gene_variant	23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149473162C>T	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883		7.37:g.149473162C>T	Exception_encountered					ZNF467_uc003wgc.2_5'Flank|ZNF467_uc003wgd.2_5'Flank|SSPO_uc010lpl.1_5'Flank	p.A11V	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		1	32	+	Melanoma(164;0.165)|Ovarian(565;0.177)		11						Missense_Mutation	SNP	ENST00000302017.3	37	c.32C>T	CCDS5899.1																																																																																				0.652	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		9	8	0	0	0	0	9	8				
PPP1R42	286187	broad.mit.edu	37	8	67925256	67925256	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr8:67925256C>T	ENST00000324682.5	-	4	516	c.372G>A	c.(370-372)gaG>gaA	p.E124E	PPP1R42_ENST00000522909.1_Silent_p.E124E|PPP1R42_ENST00000517834.1_5'UTR	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	124					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										GCCTCTGATTCTCAACATGAA	0.383																																						uc003xxc.2		NA																	0					0						c.(370-372)GAG>GAA		leucine rich repeat containing 67							110.0	113.0	111.0					8																	67925256		2203	4300	6503	SO:0001819	synonymous_variant	286187							g.chr8:67925256C>T	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.372G>A	8.37:g.67925256C>T							p.E124E	NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN			4	517	-			124			LRR 5.			Silent	SNP	ENST00000324682.5	37	c.372G>A	CCDS34902.1																																																																																				0.383	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		32	75	0	0	0	0	32	75				
PRRC2B	84726	broad.mit.edu	37	9	134340154	134340154	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr9:134340154C>T	ENST00000357304.4	+	11	1464	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S470L|PRRC2B_ENST00000405995.1_Missense_Mutation_p.S470L	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	470							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGGCAGAAGTCATCAATGGGC	0.557																																						uc004can.3		NA																	0					0						c.(1408-1410)TCA>TTA		HLA-B associated transcript 2-like							28.0	30.0	29.0					9																	134340154		2019	4174	6193	SO:0001583	missense	84726						protein binding	g.chr9:134340154C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1409C>T	9.37:g.134340154C>T	ENSP00000349856:p.Ser470Leu					BAT2L1_uc010mzj.1_Missense_Mutation_p.S53L	p.S470L	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			11	1464	+			470					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.1409C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086448	0.20390	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000422467	T;T;T;T	0.25414	4.2;4.52;4.2;1.8	5.61	5.61	0.85477	.	0.462232	0.16504	U	0.211523	T	0.24586	0.0596	L	0.36672	1.1	0.80722	D	1	B	0.24823	0.112	B	0.22386	0.039	T	0.03807	-1.1002	10	0.25751	T	0.34	0.1621	18.6204	0.91319	0.0:1.0:0.0:0.0	.	470	Q5JSZ5	PRC2B_HUMAN	L	470;470;470;10	ENSP00000384606:S470L;ENSP00000349856:S470L;ENSP00000398853:S470L;ENSP00000391063:S10L	ENSP00000349856:S470L	S	+	2	0	PRRC2B	133329975	0.066000	0.20996	0.076000	0.20297	0.031000	0.12232	3.761000	0.55242	2.652000	0.90054	0.655000	0.94253	TCA		0.557	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	16	0	0	0	0	3	16				
TMEM164	84187	broad.mit.edu	37	X	109310602	109310602	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chrX:109310602C>T	ENST00000372073.1	+	3	754	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	TMEM164_ENST00000288381.4_Intron|TMEM164_ENST00000372072.3_5'UTR|TMEM164_ENST00000372068.2_Missense_Mutation_p.R140W			Q5U3C3	TM164_HUMAN	transmembrane protein 164	140						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CCCTCCATGTCGGGGAGCTAT	0.403																																						uc004eom.2		NA																	0				large_intestine(1)|lung(1)|skin(1)	3						c.(418-420)CGG>TGG		transmembrane protein 164 isoform b							186.0	161.0	169.0					X																	109310602		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109310602C>T	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.418C>T	X.37:g.109310602C>T	ENSP00000361143:p.Arg140Trp					TMEM164_uc004eol.2_5'UTR|TMEM164_uc010npq.2_Intron	p.R140W	NM_032227	NP_115603	Q5U3C3	TM164_HUMAN			3	737	+			140					B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.418C>T	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877879	0.51801	.	.	ENSG00000157600	ENST00000372073;ENST00000372068	T;T	0.46451	0.87;0.87	4.94	4.94	0.65067	.	0.515632	0.20642	N	0.088388	T	0.32436	0.0829	L	0.29908	0.895	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.13124	-1.0521	10	0.66056	D	0.02	-0.0381	12.3873	0.55338	0.0:1.0:0.0:0.0	.	140	Q5U3C3	TM164_HUMAN	W	140	ENSP00000361143:R140W;ENSP00000361138:R140W	ENSP00000361138:R140W	R	+	1	2	TMEM164	109197258	0.954000	0.32549	0.877000	0.34402	0.932000	0.56968	3.582000	0.53921	2.416000	0.81992	0.600000	0.82982	CGG		0.403	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		41	63	0	0	0	0	41	63				
GRIA3	2892	broad.mit.edu	37	X	122532519	122532519	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chrX:122532519G>A	ENST00000371251.1	+	7	997	c.945G>A	c.(943-945)ctG>ctA	p.L315L	GRIA3_ENST00000264357.5_Silent_p.L315L|GRIA3_ENST00000371256.5_Silent_p.L315L|GRIA3_ENST00000541091.1_Silent_p.L299L|GRIA3_ENST00000542149.1_Silent_p.L315L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	315					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ACGCAATACTGGTCATAGCAG	0.453																																						uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(943-945)CTG>CTA		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						104.0	82.0	90.0					X																	122532519		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122532519G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.945G>A	X.37:g.122532519G>A						GRIA3_uc004etr.3_Silent_p.L315L|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.L299L	p.L315L	NM_007325	NP_015564	P42263	GRIA3_HUMAN			8	1238	+			315			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.945G>A	CCDS14604.1																																																																																				0.453	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		25	24	0	0	0	0	25	24				
UPF2	26019	broad.mit.edu	37	10	11997456	11997456	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:11997456delT	ENST00000356352.2	-	13	3098	c.2625delA	c.(2623-2625)ttafs	p.L875fs	UPF2_ENST00000397053.2_Frame_Shift_Del_p.L875fs|UPF2_ENST00000357604.5_Frame_Shift_Del_p.L875fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	875	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AAAGTTCTCCTAAGAACTTGG	0.368																																						uc001ila.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2623-2625)TTAfs		UPF2 regulator of nonsense transcripts homolog							68.0	67.0	67.0					10																	11997456		2203	4300	6503	SO:0001589	frameshift_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11997456delT	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2625delA	10.37:g.11997456delT	ENSP00000348708:p.Leu875fs					UPF2_uc001ilb.2_Frame_Shift_Del_p.L875fs|UPF2_uc001ilc.2_Frame_Shift_Del_p.L875fs|UPF2_uc009xiz.1_Frame_Shift_Del_p.L875fs	p.L875fs	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			13	3099	-		Renal(717;0.228)	875			Sufficient for interaction with UPF3A and UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Frame_Shift_Del	DEL	ENST00000356352.2	37	c.2625delA	CCDS7086.1																																																																																				0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			31	53	NA	NA	NA	NA	31	53	---	---	---	---
FLYWCH1	84256	broad.mit.edu	37	16	2980808	2980810	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:2980808_2980810delGGA	ENST00000253928.9	+	4	1128_1130	c.723_725delGGA	c.(721-726)ctggag>ctg	p.E245del	FLYWCH1_ENST00000416288.2_In_Frame_Del_p.E244del|FLYWCH1_ENST00000399667.2_In_Frame_Del_p.E245del			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	245	Poly-Glu.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						AGCCGGCCCTGGAGGAGGAGGAG	0.704																																						uc002csd.2		NA																	0					0						c.(721-726)CTGGAG>CTG		FLYWCH-type zinc finger 1 isoform a			,	56,3658		10,36,1811					,	-4.0	0.0			8	164,7576		30,104,3736	no	coding,coding	FLYWCH1	NM_032296.2,NM_020912.1	,	40,140,5547	A1A1,A1R,RR		2.1189,1.5078,1.9207	,	,		220,11234				SO:0001651	inframe_deletion	84256					nucleus	DNA binding|metal ion binding	g.chr16:2980808_2980810delGGA	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.723_725delGGA	16.37:g.2980817_2980819delGGA	ENSP00000253928:p.Glu245del					FLYWCH1_uc002csb.2_In_Frame_Del_p.E244del|FLYWCH1_uc002csc.2_In_Frame_Del_p.E244del|FLYWCH1_uc010bsv.2_5'Flank	p.E245del	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN			4	1086_1088	+			245			Poly-Glu.		D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	In_Frame_Del	DEL	ENST00000253928.9	37	c.723_725delGGA																																																																																					0.704	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		3	6	NA	NA	NA	NA	3	6	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185801739	185801740	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:185801739_185801740insA	ENST00000302277.6	+	4	2210_2211	c.1616_1617insA	c.(1615-1620)ggaaaafs	p.GK539fs		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	539							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTGATTCTGGAAAAAATGAGA	0.347																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1615-1617)GGAfs		zinc finger protein 804A																																				SO:0001589	frameshift_variant	91752					intracellular	zinc ion binding	g.chr2:185801739_185801740insA	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1622dupA	2.37:g.185801745_185801745dupA	ENSP00000303252:p.Gly539fs						p.G539fs	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2210_2211	+			539					A7E253|Q6ZN26	Frame_Shift_Ins	INS	ENST00000302277.6	37	c.1616_1617insA	CCDS2291.1																																																																																				0.347	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		12	31	NA	NA	NA	NA	12	31	---	---	---	---
TPX2	22974	broad.mit.edu	37	20	30381707	30381707	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr20:30381707delT	ENST00000300403.6	+	14	2094	c.1566delT	c.(1564-1566)cctfs	p.P522fs	TPX2_ENST00000340513.4_Frame_Shift_Del_p.P558fs	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	522					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATGGGGTGCCTTTTAAGCCCC	0.428																																						uc002wwp.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1564-1566)CCTfs		TPX2, microtubule-associated protein homolog							167.0	172.0	170.0					20																	30381707		2203	4300	6503	SO:0001589	frameshift_variant	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30381707delT	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1566delT	20.37:g.30381707delT	ENSP00000300403:p.Pro522fs					TPX2_uc010gdv.1_Frame_Shift_Del_p.P558fs	p.P522fs	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		14	2264	+			522					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Frame_Shift_Del	DEL	ENST00000300403.6	37	c.1566delT	CCDS13190.1																																																																																				0.428	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			7	890	NA	NA	NA	NA	7	890	---	---	---	---
