#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
KLHDC7A	127707	broad.mit.edu	37	1	18808991	18808991	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:18808991G>A	ENST00000400664.1	+	1	1568	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	506						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGACTCCGGCGGCCTCTG	0.697																																						uc001bax.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1516-1518)GGC>AGC		kelch domain containing 7A							37.0	45.0	42.0					1																	18808991		2200	4297	6497	SO:0001583	missense	127707					integral to membrane		g.chr1:18808991G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1516G>A	1.37:g.18808991G>A	ENSP00000383505:p.Gly506Ser					KLHDC7A_uc009vpg.2_Missense_Mutation_p.G288S	p.G506S	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1568	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	506			Kelch 2.		Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1516G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	8.187	0.795152	0.16327	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.65178	-0.14	5.41	4.5	0.54988	Kelch-type beta propeller (1);	0.299825	0.29021	N	0.013383	T	0.39226	0.1070	N	0.12746	0.255	0.26388	N	0.976626	B;B	0.17465	0.022;0.022	B;B	0.15870	0.014;0.014	T	0.17379	-1.0371	10	0.10636	T	0.68	.	10.5254	0.44945	0.1596:0.0:0.8404:0.0	.	443;506	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	S	506;443	ENSP00000383505:G506S	ENSP00000383505:G506S	G	+	1	0	KLHDC7A	18681578	0.043000	0.20138	0.303000	0.25071	0.147000	0.21601	0.797000	0.26999	1.271000	0.44313	0.561000	0.74099	GGC		0.697	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		14	53	0	0	0	0	14	53				
ZMYM4	9202	broad.mit.edu	37	1	35881288	35881288	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:35881288C>T	ENST00000314607.6	+	28	4362	c.4282C>T	c.(4282-4284)Cct>Tct	p.P1428S	ZMYM4_ENST00000373297.2_Missense_Mutation_p.P1339S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1428					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTCTTCCCACCTTTACAGAA	0.428																																						uc001byt.2		NA																	0				large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(4282-4284)CCT>TCT		zinc finger protein 262							96.0	84.0	88.0					1																	35881288		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35881288C>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.4282C>T	1.37:g.35881288C>T	ENSP00000322915:p.Pro1428Ser					ZMYM4_uc009vuu.2_Missense_Mutation_p.P1396S|ZMYM4_uc001byu.2_Missense_Mutation_p.P1104S|ZMYM4_uc009vuv.2_Missense_Mutation_p.P1167S	p.P1428S	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			28	4362	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1428					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.4282C>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.450334|4.450334	0.84101|0.84101	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.23552|.	1.9;1.93|.	5.63|5.63	4.72|4.72	0.59763|0.59763	.|.	0.604873|.	0.17360|.	N|.	0.177072|.	T|T	0.60301|0.60301	0.2258|0.2258	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.42010|.	0.768|.	P|.	0.49953|.	0.627|.	T|T	0.57636|0.57636	-0.7777|-0.7777	10|5	0.22706|.	T|.	0.39|.	-10.6694|-10.6694	14.9732|14.9732	0.71249|0.71249	0.0:0.9311:0.0:0.0689|0.0:0.9311:0.0:0.0689	.|.	1428|.	Q5VZL5|.	ZMYM4_HUMAN|.	S|I	1428;1339|1086	ENSP00000322915:P1428S;ENSP00000362394:P1339S|.	ENSP00000322915:P1428S|.	P|T	+|+	1|2	0|0	ZMYM4|ZMYM4	35653875|35653875	1.000000|1.000000	0.71417|0.71417	0.898000|0.898000	0.35279|0.35279	0.994000|0.994000	0.84299|0.84299	7.190000|7.190000	0.77755|0.77755	1.513000|1.513000	0.48852|0.48852	0.655000|0.655000	0.94253|0.94253	CCT|ACC		0.428	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		22	27	0	0	0	0	22	27				
ACADM	34	broad.mit.edu	37	1	76205698	76205698	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:76205698G>A	ENST00000370841.4	+	7	939	c.502G>A	c.(502-504)Gat>Aat	p.D168N	ACADM_ENST00000370834.5_Missense_Mutation_p.D201N|ACADM_ENST00000541113.1_Missense_Mutation_p.D132N|ACADM_ENST00000543667.1_De_novo_Start_OutOfFrame|ACADM_ENST00000420607.2_Missense_Mutation_p.D172N	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	168					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AGCAGGCTCTGATGTAGCTGG	0.338																																						uc001dgw.3		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(502-504)GAT>AAT		medium-chain acyl-CoA dehydrogenase isoform a							75.0	76.0	76.0					1																	76205698		2203	4300	6503	SO:0001583	missense	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76205698G>A	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.502G>A	1.37:g.76205698G>A	ENSP00000359878:p.Asp168Asn					ACADM_uc010orc.1_3'UTR|ACADM_uc010ord.1_Missense_Mutation_p.D82N|ACADM_uc009wbp.2_Missense_Mutation_p.D172N|ACADM_uc009wbr.2_Missense_Mutation_p.D201N|ACADM_uc010ore.1_Missense_Mutation_p.D132N|ACADM_uc010orf.1_5'UTR|ACADM_uc001dgx.3_Missense_Mutation_p.D82N|ACADM_uc010org.1_Missense_Mutation_p.D38N	p.D168N	NM_000016	NP_000007	P11310	ACADM_HUMAN			7	932	+			168					Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	c.502G>A	CCDS668.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495874	0.96355	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.99499	-6.02;-6.02;-6.02;-6.02	5.57	5.57	0.84162	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99453	1.0941	10	0.87932	D	0	.	19.157	0.93516	0.0:0.0:1.0:0.0	.	132;82;201;172;168	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	N	168;201;132;172	ENSP00000359878:D168N;ENSP00000359871:D201N;ENSP00000442324:D132N;ENSP00000409612:D172N	ENSP00000359871:D201N	D	+	1	0	ACADM	75978286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.641000	0.98458	2.604000	0.88044	0.650000	0.86243	GAT		0.338	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			12	16	0	0	0	0	12	16				
ELTD1	64123	broad.mit.edu	37	1	79357299	79357299	+	Silent	SNP	G	G	A	rs367751734		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:79357299G>A	ENST00000370742.3	-	14	1983	c.1920C>T	c.(1918-1920)caC>caT	p.H640H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	640					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CCACTGATGCGTGCACAACAT	0.448																																						uc001diq.3		NA																	0				ovary(1)|skin(1)	2						c.(1918-1920)CAC>CAT		EGF, latrophilin and seven transmembrane domain		G		0,3926		0,0,1963	70.0	70.0	70.0		1920	-1.5	1.0	1		70	1,8303		0,1,4151	no	coding-synonymous	ELTD1	NM_022159.3		0,1,6114	AA,AG,GG		0.012,0.0,0.0082		640/691	79357299	1,12229	1963	4152	6115	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79357299G>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1920C>T	1.37:g.79357299G>A							p.H640H	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	14	2076	-			640			Extracellular (Potential).		B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.1920C>T	CCDS41352.1																																																																																				0.448	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		11	19	0	0	0	0	11	19				
HIPK1	204851	broad.mit.edu	37	1	114499787	114499787	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:114499787G>A	ENST00000369558.1	+	7	1866	c.1634G>A	c.(1633-1635)aGg>aAg	p.R545K	HIPK1_ENST00000369561.4_Missense_Mutation_p.R545K|HIPK1_ENST00000369555.2_Missense_Mutation_p.R545K|HIPK1_ENST00000369554.2_Missense_Mutation_p.R545K|HIPK1_ENST00000426820.2_Missense_Mutation_p.R545K|HIPK1_ENST00000369559.4_Missense_Mutation_p.R545K|HIPK1_ENST00000406344.1_Missense_Mutation_p.R151K|HIPK1_ENST00000340480.4_Missense_Mutation_p.R171K|HIPK1_ENST00000369553.1_Missense_Mutation_p.R151K			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	545					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCAAGCGGAGGGTTCACATG	0.388																																						uc001eem.2		NA																	0				ovary(4)	4						c.(1633-1635)AGG>AAG		homeodomain-interacting protein kinase 1 isoform							146.0	127.0	133.0					1																	114499787		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114499787G>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1634G>A	1.37:g.114499787G>A	ENSP00000358571:p.Arg545Lys					HIPK1_uc001eel.2_Missense_Mutation_p.R545K|HIPK1_uc001een.2_Missense_Mutation_p.R545K|HIPK1_uc001eeo.2_Missense_Mutation_p.R171K|HIPK1_uc001eep.2_Missense_Mutation_p.R151K	p.R545K	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1795	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	545					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.1634G>A	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267299	0.95399	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.76;0.79;0.75;0.75;0.79;0.8;3.84;1.87;1.87	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.74881	2.28	0.58432	D	0.999999	P;P;P	0.47910	0.699;0.841;0.902	P;P;D	0.63033	0.472;0.745;0.91	T	0.51309	-0.8722	10	0.25106	T	0.35	.	19.2559	0.93945	0.0:0.0:1.0:0.0	.	151;545;545	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	K	616;545;545;545;545;545;545;171;151;151	ENSP00000407442:R616K;ENSP00000358572:R545K;ENSP00000409673:R545K;ENSP00000358567:R545K;ENSP00000358568:R545K;ENSP00000358571:R545K;ENSP00000358574:R545K;ENSP00000340956:R171K;ENSP00000358566:R151K;ENSP00000384960:R151K	ENSP00000340956:R171K	R	+	2	0	HIPK1	114301310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.202000	0.95026	2.861000	0.98227	0.650000	0.86243	AGG		0.388	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		15	28	0	0	0	0	15	28				
TDRKH	11022	broad.mit.edu	37	1	151751319	151751319	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:151751319G>C	ENST00000368822.1	-	6	1358	c.725C>G	c.(724-726)tCt>tGt	p.S242C	TDRKH_ENST00000368823.1_Missense_Mutation_p.S238C|TDRKH_ENST00000368827.6_Missense_Mutation_p.S242C|TDRKH_ENST00000368824.3_Missense_Mutation_p.S242C|TDRKH_ENST00000458431.2_Missense_Mutation_p.S242C|TDRKH_ENST00000440583.2_Missense_Mutation_p.S18C|TDRKH_ENST00000368825.3_Missense_Mutation_p.S197C|TDRKH_ENST00000484421.1_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	242					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCATGCTAGAACTGGTGTT	0.542																																						uc009wnb.1		NA																	0				ovary(1)|pancreas(1)	2						c.(724-726)TCT>TGT		tudor and KH domain containing isoform a							114.0	111.0	112.0					1																	151751319		2015	4169	6184	SO:0001583	missense	11022						RNA binding	g.chr1:151751319G>C	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.725C>G	1.37:g.151751319G>C	ENSP00000357812:p.Ser242Cys					TDRKH_uc001eyy.2_Missense_Mutation_p.S18C|TDRKH_uc001ezb.3_Missense_Mutation_p.S238C|TDRKH_uc001ezc.3_Missense_Mutation_p.S197C|TDRKH_uc001eza.3_Missense_Mutation_p.S242C|TDRKH_uc001ezd.3_Missense_Mutation_p.S242C|TDRKH_uc010pdn.1_Missense_Mutation_p.S18C	p.S242C	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		6	907	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		242					D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	c.725C>G	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	G	6.834	0.523014	0.13066	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000440583	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	4.79	3.87	0.44632	.	1.403790	0.03884	N	0.277494	T	0.18509	0.0444	N	0.14661	0.345	0.09310	N	1	P;P;P	0.40660	0.726;0.726;0.726	B;B;B	0.40101	0.319;0.219;0.156	T	0.23404	-1.0189	10	0.38643	T	0.18	-1.4499	10.934	0.47235	0.0:0.1891:0.8109:0.0	.	197;238;242	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	C	242;197;242;238;242;242;18	ENSP00000357819:S242C;ENSP00000357817:S197C;ENSP00000357815:S242C;ENSP00000357813:S238C;ENSP00000357812:S242C;ENSP00000395718:S242C;ENSP00000416645:S18C	ENSP00000357812:S242C	S	-	2	0	TDRKH	150017943	0.003000	0.15002	0.003000	0.11579	0.128000	0.20619	0.726000	0.25984	1.233000	0.43693	0.650000	0.86243	TCT		0.542	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		16	93	0	0	0	0	16	93				
SPTA1	6708	broad.mit.edu	37	1	158612629	158612629	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:158612629G>T	ENST00000368147.4	-	32	4760	c.4580C>A	c.(4579-4581)tCc>tAc	p.S1527Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1527					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.S1527Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCTTTGTAGGATTCATCACA	0.443																																						uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4579-4581)TCC>TAC		spectrin, alpha, erythrocytic 1							191.0	182.0	185.0					1																	158612629		1990	4164	6154	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158612629G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4580C>A	1.37:g.158612629G>T	ENSP00000357129:p.Ser1527Tyr						p.S1527Y	NM_003126	NP_003117	P02549	SPTA1_HUMAN			32	4779	-	all_hematologic(112;0.0378)		1527			Spectrin 15.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4580C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355986	0.82243	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37411	1.2;1.2	5.2	4.25	0.50352	.	0.000000	0.31936	N	0.006828	T	0.60196	0.2250	M	0.90082	3.085	0.46927	D	0.999254	D	0.89917	1.0	D	0.87578	0.998	T	0.67217	-0.5726	10	0.72032	D	0.01	.	14.0854	0.64951	0.0:0.0:0.8496:0.1504	.	1527	P02549	SPTA1_HUMAN	Y	1527	ENSP00000357130:S1527Y;ENSP00000357129:S1527Y	ENSP00000357129:S1527Y	S	-	2	0	SPTA1	156879253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.201000	0.77847	2.711000	0.92665	0.655000	0.94253	TCC		0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		35	90	1	0	1.05e-18	1.22e-18	35	90				
DNM3	26052	broad.mit.edu	37	1	172356476	172356476	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:172356476C>T	ENST00000355305.5	+	19	2437	c.2280C>T	c.(2278-2280)gaC>gaT	p.D760D	DNM3_ENST00000367731.1_Silent_p.D750D|DNM3_ENST00000358155.4_Silent_p.D754D			Q9UQ16	DYN3_HUMAN	dynamin 3	760					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGTGGATGACTCCTGGATAC	0.592																																						uc001gie.2		NA																	0				breast(1)	1						c.(2260-2262)GAC>GAT		dynamin 3 isoform a							26.0	29.0	28.0					1																	172356476		2047	4184	6231	SO:0001819	synonymous_variant	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172356476C>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2280C>T	1.37:g.172356476C>T						DNM3_uc001gif.2_Silent_p.D750D|DNM3_uc001gih.1_Silent_p.D110D	p.D754D	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			19	2438	+			760					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Silent	SNP	ENST00000355305.5	37	c.2262C>T																																																																																					0.592	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		6	14	0	0	0	0	6	14				
RGL1	23179	broad.mit.edu	37	1	183891440	183891440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:183891440G>A	ENST00000360851.3	+	17	2267	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	RGL1_ENST00000536277.1_Missense_Mutation_p.E695K|RGL1_ENST00000539189.1_Missense_Mutation_p.E668K|RGL1_ENST00000304685.4_Missense_Mutation_p.E732K			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	697	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CGAGGAGTACGAGCTGGTGCA	0.572											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gqo.2		NA																	0				breast(5)|ovary(4)|lung(2)	11						c.(2089-2091)GAG>AAG		ral guanine nucleotide dissociation							89.0	64.0	72.0					1																	183891440		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183891440G>A	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2089G>A	1.37:g.183891440G>A	ENSP00000354097:p.Glu697Lys		OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1987	RGL1_uc001gqm.2_Missense_Mutation_p.E732K|RGL1_uc010pog.1_Missense_Mutation_p.E695K|RGL1_uc010poh.1_Missense_Mutation_p.E695K|RGL1_uc010poi.1_Missense_Mutation_p.E668K	p.E697K	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			17	2246	+			697			Ras-associating.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.2089G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.448885	0.96205	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	5.29	5.29	0.74685	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	M	0.77103	2.36	0.58432	D	0.999998	D;D;P;D	0.61697	0.99;0.99;0.95;0.99	P;P;B;P	0.61397	0.888;0.719;0.438;0.593	T	0.24154	-1.0168	10	0.46703	T	0.11	.	18.8749	0.92331	0.0:0.0:1.0:0.0	.	668;695;697;732	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	K	732;732;695;697;668	ENSP00000303192:E732K;ENSP00000356501:E732K;ENSP00000438662:E695K;ENSP00000354097:E697K;ENSP00000437355:E668K	ENSP00000303192:E732K	E	+	1	0	RGL1	182158063	1.000000	0.71417	0.983000	0.44433	0.962000	0.63368	6.093000	0.71422	2.614000	0.88457	0.655000	0.94253	GAG		0.572	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		3	15	0	0	0	0	3	15				
TPR	7175	broad.mit.edu	37	1	186310164	186310164	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:186310164T>C	ENST00000367478.4	-	29	4312	c.4016A>G	c.(4015-4017)aAc>aGc	p.N1339S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1339					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTTACCTGGTTACGTGCTTT	0.393			T	NTRK1	papillary thyroid																																	uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(4015-4017)AAC>AGC		nuclear pore complex-associated protein TPR							194.0	174.0	180.0					1																	186310164		1904	4131	6035	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186310164T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4016A>G	1.37:g.186310164T>C	ENSP00000356448:p.Asn1339Ser						p.N1339S	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	29	4313	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1339			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.4016A>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496058	0.26774	.	.	ENSG00000047410	ENST00000367478	T	0.22336	1.96	4.93	3.73	0.42828	.	0.050489	0.85682	D	0.000000	T	0.13500	0.0327	N	0.22421	0.69	0.30451	N	0.775247	B	0.20780	0.048	B	0.19148	0.024	T	0.06734	-1.0810	10	0.34782	T	0.22	.	10.2407	0.43310	0.0:0.0:0.39:0.61	.	1339	P12270	TPR_HUMAN	S	1339	ENSP00000356448:N1339S	ENSP00000356448:N1339S	N	-	2	0	TPR	184576787	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.510000	0.67018	1.847000	0.53656	0.482000	0.46254	AAC		0.393	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		19	82	0	0	0	0	19	82				
RGS21	431704	broad.mit.edu	37	1	192321331	192321331	+	Silent	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:192321331T>C	ENST00000417209.2	+	4	417	c.243T>C	c.(241-243)gaT>gaC	p.D81D		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	81	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTGAAGCTGATGCACCTAAAG	0.378																																						uc001gsh.2		NA																	0				ovary(1)|skin(1)	2						c.(241-243)GAT>GAC		regulator of G-protein signaling 21							53.0	51.0	51.0					1																	192321331		1862	4111	5973	SO:0001819	synonymous_variant	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192321331T>C	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.243T>C	1.37:g.192321331T>C							p.D81D	NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN			4	417	+			81			RGS.			Silent	SNP	ENST00000417209.2	37	c.243T>C	CCDS41448.1																																																																																				0.378	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			8	29	0	0	0	0	8	29				
PLEKHA6	22874	broad.mit.edu	37	1	204228389	204228389	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:204228389C>T	ENST00000272203.3	-	8	1320	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R355Q	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	335	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCCTCACCTCCGAAGGTCTTC	0.617																																						uc001hau.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1003-1005)CGG>CAG		phosphoinositol 3-phosphate-binding protein-3							30.0	34.0	33.0					1																	204228389		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204228389C>T	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1004G>A	1.37:g.204228389C>T	ENSP00000272203:p.Arg335Gln					PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	p.R335Q	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	1321	-	all_cancers(21;0.0222)|Breast(84;0.179)		335			Pro-rich.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.1004G>A	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583653	0.46006	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.11169	2.8;3.23	5.45	5.45	0.79879	.	0.472357	0.24443	N	0.038499	T	0.08891	0.0220	L	0.52364	1.645	0.39426	D	0.966994	P	0.45768	0.866	B	0.31442	0.13	T	0.07195	-1.0785	10	0.54805	T	0.06	.	9.6187	0.39708	0.0:0.8434:0.0:0.1566	.	335	Q9Y2H5	PKHA6_HUMAN	Q	335;355	ENSP00000272203:R335Q;ENSP00000402046:R355Q	ENSP00000272203:R335Q	R	-	2	0	PLEKHA6	202495012	0.980000	0.34600	0.996000	0.52242	0.637000	0.38172	1.993000	0.40747	2.560000	0.86352	0.561000	0.74099	CGG		0.617	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		5	23	0	0	0	0	5	23				
RYR2	6262	broad.mit.edu	37	1	237664039	237664039	+	Silent	SNP	A	A	G	rs371928388		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:237664039A>G	ENST00000366574.2	+	21	2549	c.2232A>G	c.(2230-2232)ccA>ccG	p.P744P	RYR2_ENST00000360064.6_Silent_p.P742P|RYR2_ENST00000542537.1_Silent_p.P728P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	744	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAAGCTCACCAAACCAACATC	0.413																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2230-2232)CCA>CCG		cardiac muscle ryanodine receptor							309.0	291.0	297.0					1																	237664039		1905	4135	6040	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237664039A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2232A>G	1.37:g.237664039A>G							p.P744P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		21	2352	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	744			Cytoplasmic (By similarity).|B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.2232A>G	CCDS55691.1																																																																																				0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		56	184	0	0	0	0	56	184				
SDCCAG8	10806	broad.mit.edu	37	1	243437866	243437867	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:243437866_243437867AC>TT	ENST00000366541.3	+	4	446_447	c.328_329AC>TT	c.(328-330)ACc>TTc	p.T110F	SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.T110F|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.T110F	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	110					establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ACATGAGGAAACCAATATGCCT	0.297																																						uc001hzw.2		NA																	0					0						c.(328-330)ACC>TTC		serologically defined colon cancer antigen 8																																				SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243437866_243437867AC>TT	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	Exception_encountered	1.37:g.243437866_243437867delinsTT	ENSP00000355499:p.Thr110Phe					SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron	p.T110F	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	4	484_485	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	110					O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	DNP	ENST00000366541.3	37	c.328_329AC>TT	CCDS31075.1																																																																																				0.297	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		6	35	0	0	0	0	6	35				
NLRP3	114548	broad.mit.edu	37	1	247588430	247588430	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:247588430T>G	ENST00000336119.3	+	3	2431	c.1685T>G	c.(1684-1686)cTg>cGg	p.L562R	NLRP3_ENST00000391827.2_Missense_Mutation_p.L562R|NLRP3_ENST00000366497.2_Missense_Mutation_p.L562R|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.L562R|NLRP3_ENST00000348069.2_Missense_Mutation_p.L562R|NLRP3_ENST00000366496.2_Missense_Mutation_p.L562R	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	562					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAGTCCTTCTGGAAAACTAT	0.478																																						uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1684-1686)CTG>CGG		NLR family, pyrin domain containing 3 isoform a							50.0	47.0	48.0					1																	247588430		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588430T>G	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1685T>G	1.37:g.247588430T>G	ENSP00000337383:p.Leu562Arg					NLRP3_uc001ics.2_Missense_Mutation_p.L562R|NLRP3_uc001icu.2_Missense_Mutation_p.L562R|NLRP3_uc001icw.2_Missense_Mutation_p.L562R|NLRP3_uc001icv.2_Missense_Mutation_p.L562R|NLRP3_uc010pyw.1_Missense_Mutation_p.L560R|NLRP3_uc001ict.1_Missense_Mutation_p.L560R	p.L562R	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1823	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	562					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1685T>G	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.185151	0.38609	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	4.17	4.17	0.49024	.	0.000000	0.45126	D	0.000386	D	0.93135	0.7814	M	0.93328	3.405	0.19575	N	0.999966	D;D;D;D;D	0.89917	0.992;1.0;1.0;1.0;0.978	D;D;D;D;D	0.91635	0.961;0.998;0.996;0.999;0.918	D	0.85882	0.1423	10	0.51188	T	0.08	.	9.8946	0.41311	0.0:0.0:0.0:1.0	.	562;562;562;562;562	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	R	562	ENSP00000375704:L562R;ENSP00000355453:L562R;ENSP00000337383:L562R;ENSP00000294752:L562R;ENSP00000355452:L562R;ENSP00000375703:L562R	ENSP00000337383:L562R	L	+	2	0	NLRP3	245655053	0.780000	0.28664	0.152000	0.22495	0.713000	0.41058	6.311000	0.72835	2.111000	0.64477	0.533000	0.62120	CTG		0.478	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		6	25	0	0	0	0	6	25				
OR2T4	127074	broad.mit.edu	37	1	248525602	248525602	+	Silent	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:248525602C>A	ENST00000366475.1	+	1	720	c.720C>A	c.(718-720)ctC>ctA	p.L240L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATGCTCCTCATCCCTGTGG	0.478																																						uc001ieh.1		NA																	0				central_nervous_system(1)	1						c.(718-720)CTC>CTA		olfactory receptor, family 2, subfamily T,							159.0	151.0	153.0					1																	248525602		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525602C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.720C>A	1.37:g.248525602C>A							p.L240L	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	720	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		240			Helical; Name=5; (Potential).		Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.720C>A	CCDS31113.1																																																																																				0.478	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		27	83	1	0	8.58e-18	9.95e-18	27	83				
GAD2	2572	broad.mit.edu	37	10	26581498	26581498	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:26581498G>A	ENST00000376261.3	+	14	1994	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	GAD2_ENST00000259271.3_Silent_p.G497G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	497					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGTTTGATGGGAAGGTATGTA	0.388																																						uc001isp.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1489-1491)GGG>GGA		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						104.0	98.0	100.0					10																	26581498		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26581498G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1491G>A	10.37:g.26581498G>A						GAD2_uc001isq.2_Silent_p.G497G	p.G497G	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			14	1994	+			497					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1491G>A	CCDS7149.1																																																																																				0.388	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		8	35	0	0	0	0	8	35				
ZNF438	220929	broad.mit.edu	37	10	31138093	31138093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:31138093C>G	ENST00000361310.3	-	6	1570	c.1241G>C	c.(1240-1242)aGa>aCa	p.R414T	ZNF438_ENST00000452305.1_Missense_Mutation_p.R404T|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000413025.1_Missense_Mutation_p.R414T|ZNF438_ENST00000538351.2_Missense_Mutation_p.R365T|ZNF438_ENST00000331737.6_Missense_Mutation_p.R404T|ZNF438_ENST00000442986.1_Missense_Mutation_p.R414T|ZNF438_ENST00000436087.2_Missense_Mutation_p.R414T|ZNF438_ENST00000444692.2_Missense_Mutation_p.R404T			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	414					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ATTTTTTACTCTTTCTTTACC	0.378																																						uc010qdz.1		NA																	0				ovary(1)|breast(1)	2						c.(1240-1242)AGA>ACA		zinc finger protein 438 isoform a							66.0	73.0	70.0					10																	31138093		2203	4299	6502	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138093C>G	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1241G>C	10.37:g.31138093C>G	ENSP00000354663:p.Arg414Thr					ZNF438_uc001ivn.2_Missense_Mutation_p.R365T|ZNF438_uc010qdy.1_Missense_Mutation_p.R404T|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Missense_Mutation_p.R414T|ZNF438_uc001ivp.3_Missense_Mutation_p.R404T|ZNF438_uc010qea.1_Missense_Mutation_p.R414T|ZNF438_uc010qeb.1_Missense_Mutation_p.R414T|ZNF438_uc010qec.1_5'UTR	p.R414T	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			7	1676	-		Prostate(175;0.0587)	414					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.1241G>C	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375532	0.61735	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896	T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	5.73	3.89	0.44902	.	0.091610	0.85682	D	0.000000	T	0.18299	0.0439	M	0.73598	2.24	0.34272	D	0.681184	B;P	0.35872	0.39;0.525	B;B	0.37451	0.127;0.25	T	0.20974	-1.0259	10	0.87932	D	0	-22.0236	8.4443	0.32833	0.0:0.7674:0.0:0.2326	.	414;404	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	T	404;414;414;414;414;404;404;365;133	ENSP00000333571:R404T;ENSP00000354663:R414T;ENSP00000406934:R414T;ENSP00000412363:R414T;ENSP00000387546:R414T;ENSP00000413060:R404T;ENSP00000410898:R404T;ENSP00000445461:R365T	ENSP00000333571:R404T	R	-	2	0	ZNF438	31178099	0.012000	0.17670	0.008000	0.14137	0.940000	0.58332	0.142000	0.16096	0.782000	0.33613	0.650000	0.86243	AGA		0.378	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		9	43	0	0	0	0	9	43				
ANKRD30A	91074	broad.mit.edu	37	10	37431034	37431034	+	Silent	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:37431034T>G	ENST00000602533.1	+	7	1140	c.1041T>G	c.(1039-1041)tcT>tcG	p.S347S	ANKRD30A_ENST00000374660.1_Silent_p.S347S|ANKRD30A_ENST00000361713.1_Silent_p.S347S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	403					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGAAACATCTGAGAAATTTA	0.433																																						uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(1039-1041)TCT>TCG		ankyrin repeat domain 30A							105.0	104.0	104.0					10																	37431034		1843	4083	5926	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431034T>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1041T>G	10.37:g.37431034T>G							p.S347S	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	1140	+			403					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1041T>G																																																																																					0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		9	58	0	0	0	0	9	58				
BMS1	9790	broad.mit.edu	37	10	43285840	43285840	+	Missense_Mutation	SNP	G	G	A	rs574980010		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:43285840G>A	ENST00000374518.5	+	5	580	c.517G>A	c.(517-519)Gta>Ata	p.V173I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	173	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATCTGTCAAGTACATGGCTT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		19054	0.001		0.0	False		,,,				2504	0.0					uc001jaj.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(517-519)GTA>ATA		BMS1-like, ribosome assembly protein							118.0	116.0	117.0					10																	43285840		2203	4298	6501	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43285840G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.517G>A	10.37:g.43285840G>A	ENSP00000363642:p.Val173Ile						p.V173I	NM_014753	NP_055568	Q14692	BMS1_HUMAN			5	875	+			173					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.517G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	34	5.388237	0.95988	.	.	ENSG00000165733	ENST00000374518	T	0.09817	2.94	5.28	5.28	0.74379	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.67953	2.075	0.58432	D	0.999998	D	0.71674	0.998	D	0.85130	0.997	T	0.01914	-1.1248	10	0.52906	T	0.07	.	19.0877	0.93212	0.0:0.0:1.0:0.0	.	173	Q14692	BMS1_HUMAN	I	173	ENSP00000363642:V173I	ENSP00000363642:V173I	V	+	1	0	BMS1	42605846	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.641000	0.98458	2.510000	0.84645	0.491000	0.48974	GTA		0.378	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		24	71	0	0	0	0	24	71				
OR13A1	79290	broad.mit.edu	37	10	45799763	45799763	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:45799763C>T	ENST00000553795.1	-	4	416	c.108G>A	c.(106-108)tcG>tcA	p.S36S	OR13A1_ENST00000536058.1_Silent_p.S36S|OR13A1_ENST00000374401.2_Silent_p.S36S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S36S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CTGGGTGCTCCGAAAAGCCCT	0.527																																						uc001jcc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(106-108)TCG>TCA		olfactory receptor, family 13, subfamily A,							68.0	79.0	75.0					10																	45799763		2203	4300	6503	SO:0001819	synonymous_variant	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799763C>T	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.108G>A	10.37:g.45799763C>T						OR13A1_uc001jcd.1_Silent_p.S32S	p.S36S	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	417	-			36			Extracellular (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	c.108G>A	CCDS31188.1																																																																																				0.527	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		5	24	0	0	0	0	5	24				
VSTM4	196740	broad.mit.edu	37	10	50285363	50285363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:50285363C>T	ENST00000332853.4	-	4	558	c.535G>A	c.(535-537)Gtg>Atg	p.V179M		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ACAGCATACACATAGAGATCT	0.512																																						uc001jhf.2		NA																	0					0						c.(535-537)GTG>ATG		hypothetical protein LOC196740 isoform 1							108.0	86.0	93.0					10																	50285363		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50285363C>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.535G>A	10.37:g.50285363C>T	ENSP00000331062:p.Val179Met						p.V179M	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			4	564	-			179			Extracellular (Potential).		B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.535G>A	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401195	0.25291	.	.	ENSG00000165633	ENST00000332853	T	0.07908	3.15	5.14	-0.398	0.12418	.	0.584929	0.18155	N	0.149947	T	0.05456	0.0144	N	0.22421	0.69	0.80722	D	1	B	0.12630	0.006	B	0.12837	0.008	T	0.33111	-0.9881	10	0.45353	T	0.12	-8.4579	8.7321	0.34505	0.0:0.4973:0.0:0.5027	.	179	Q8IW00	VSTM4_HUMAN	M	179	ENSP00000331062:V179M	ENSP00000331062:V179M	V	-	1	0	VSTM4	49955369	0.015000	0.18098	0.794000	0.32065	0.749000	0.42624	-0.769000	0.04710	0.039000	0.15632	0.655000	0.94253	GTG		0.512	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		6	25	0	0	0	0	6	25				
OGDHL	55753	broad.mit.edu	37	10	50946288	50946288	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:50946288C>T	ENST00000374103.4	-	18	2425	c.2340G>A	c.(2338-2340)gcG>gcA	p.A780A	OGDHL_ENST00000419399.1_Silent_p.A723A|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Silent_p.A571A	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	780					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.A780A(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTTCGGGCCTCGCTGACGAGT	0.617																																						uc001jie.2		NA																	1	Substitution - coding silent(1)		prostate(1)	pancreas(1)	1						c.(2338-2340)GCG>GCA		oxoglutarate dehydrogenase-like isoform a							104.0	83.0	90.0					10																	50946288		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50946288C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2340G>A	10.37:g.50946288C>T						OGDHL_uc009xog.2_Silent_p.A807A|OGDHL_uc010qgt.1_Silent_p.A723A|OGDHL_uc010qgu.1_Silent_p.A571A	p.A780A	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			18	2482	-			780					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.2340G>A	CCDS7234.1																																																																																				0.617	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		4	27	0	0	0	0	4	27				
HK1	3098	broad.mit.edu	37	10	71103643	71103643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:71103643C>T	ENST00000359426.6	+	2	228	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	HK1_ENST00000448642.2_Missense_Mutation_p.R77C|HK1_ENST00000360289.2_Missense_Mutation_p.R30C|HK1_ENST00000404387.2_Missense_Mutation_p.R46C|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.R41C	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	42	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TATCATGACTCGCTTCAGGAA	0.498																																						uc001jpl.3		NA																	0				ovary(1)	1						c.(124-126)CGC>TGC		hexokinase 1 isoform HKI							140.0	133.0	135.0					10																	71103643		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71103643C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.124C>T	10.37:g.71103643C>T	ENSP00000352398:p.Arg42Cys					HK1_uc009xqc.1_3'UTR|HK1_uc001jpg.3_Missense_Mutation_p.R30C|HK1_uc001jph.3_Missense_Mutation_p.R46C|HK1_uc001jpi.3_Missense_Mutation_p.R46C|HK1_uc001jpj.3_Missense_Mutation_p.R77C|HK1_uc001jpk.3_Missense_Mutation_p.R41C|HK1_uc009xqd.2_5'UTR	p.R42C	NM_000188	NP_000179	P19367	HXK1_HUMAN			2	225	+			42			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.124C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285332	0.80803	.	.	ENSG00000156515	ENST00000450646;ENST00000360289;ENST00000448642;ENST00000421088;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93	5.31	5.31	0.75309	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.93062	3.375	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;P	0.74023	0.982;0.975;0.963;0.938;0.814	D	0.99323	1.0907	10	0.87932	D	0	.	13.8905	0.63736	0.1524:0.8476:0.0:0.0	.	42;41;77;46;30	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	C	46;30;77;30;46;41;41;42;42	ENSP00000409761:R46C;ENSP00000353433:R30C;ENSP00000402103:R77C;ENSP00000398316:R30C;ENSP00000384774:R46C;ENSP00000415949:R41C;ENSP00000298649:R41C;ENSP00000352398:R42C	ENSP00000298649:R41C	R	+	1	0	HK1	70773649	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	4.494000	0.60347	2.485000	0.83878	0.655000	0.94253	CGC		0.498	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		8	112	0	0	0	0	8	112				
PNLIPRP2	5408	broad.mit.edu	37	10	118396336	118396336	+	RNA	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:118396336T>C	ENST00000298771.7	+	0	1002				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGCCCCAAAATGGGGCACTAT	0.403																																						uc001lcq.2		NA																	0				large_intestine(1)	1						c.(979-981)ATG>ACG		pancreatic lipase-related protein 2							89.0	80.0	83.0					10																	118396336		1828	4085	5913			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396336T>C	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396336T>C						PNLIPRP2_uc009xyv.1_RNA	p.M327T	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	12	1003	+			326					A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37	c.980T>C		.	.	.	.	.	.	.	.	.	.	T	10.15	1.271395	0.23221	.	.	ENSG00000165862	ENST00000537242	D	0.93133	-3.17	5.08	5.08	0.68730	Lipase, N-terminal (1);	0.000000	0.64402	U	0.000002	D	0.96399	0.8825	.	.	.	0.29585	N	0.848863	D	0.89917	1.0	D	0.97110	1.0	D	0.93627	0.6953	9	0.87932	D	0	.	14.8054	0.69952	0.0:0.0:0.0:1.0	.	326	P54317	LIPR2_HUMAN	T	326	ENSP00000446346:M326T	ENSP00000446346:M326T	M	+	2	0	PNLIPRP2	118386326	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.045000	0.57368	2.043000	0.60533	0.379000	0.24179	ATG		0.403	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		5	9	0	0	0	0	5	9				
C10orf82	143379	broad.mit.edu	37	10	118425293	118425293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:118425293C>G	ENST00000369210.3	-	3	154	c.100G>C	c.(100-102)Gac>Cac	p.D34H	C10orf82_ENST00000588184.1_Missense_Mutation_p.D34H	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	34										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TGGTTCATGTCATCCTCCTTG	0.517																																						uc001lcr.2		NA																	0					0						c.(100-102)GAC>CAC		hypothetical protein LOC143379							97.0	94.0	95.0					10																	118425293		2203	4300	6503	SO:0001583	missense	143379							g.chr10:118425293C>G	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.100G>C	10.37:g.118425293C>G	ENSP00000358212:p.Asp34His					C10orf82_uc001lcs.1_Missense_Mutation_p.D34H	p.D34H	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	3	155	-			34					B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000369210.3	37	c.100G>C	CCDS7596.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503805	0.26949	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.45668	0.89	5.16	-5.51	0.02568	.	0.692060	0.13572	N	0.377977	T	0.24392	0.0591	L	0.43152	1.355	0.09310	N	1	B;B	0.21071	0.002;0.051	B;B	0.16289	0.007;0.015	T	0.20472	-1.0274	10	0.66056	D	0.02	.	1.6699	0.02809	0.1217:0.1952:0.3423:0.3408	.	34;34	Q8WW14-3;Q8WW14	.;CJ082_HUMAN	H	34	ENSP00000358212:D34H	ENSP00000358212:D34H	D	-	1	0	C10orf82	118415283	0.000000	0.05858	0.008000	0.14137	0.043000	0.13939	-1.435000	0.02423	-0.770000	0.04614	0.561000	0.74099	GAC		0.517	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		8	39	0	0	0	0	8	39				
OR51B2	79345	broad.mit.edu	37	11	5345347	5345347	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:5345347G>A	ENST00000328813.2	-	1	235	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATGGTGAGGAAGTAGTAC	0.512																																						uc001mao.1		NA																	0				ovary(2)|skin(1)	3						c.(181-183)CTC>TTC		olfactory receptor, family 51, subfamily B,							149.0	125.0	133.0					11																	5345347		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345347G>A	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.181C>T	11.37:g.5345347G>A	ENSP00000327540:p.Leu61Phe					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.L61F	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	236	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	61			Helical; Name=2; (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.181C>T	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501261	0.64298	.	.	ENSG00000184881	ENST00000328813	T	0.14391	2.51	4.39	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29424	U	0.012200	T	0.40196	0.1107	M	0.92367	3.3	0.31552	N	0.658657	D	0.89917	1.0	D	0.91635	0.999	T	0.49688	-0.8913	10	0.87932	D	0	.	5.6348	0.17530	0.1799:0.1617:0.6584:0.0	.	61	Q9Y5P1	O51B2_HUMAN	F	61	ENSP00000327540:L61F	ENSP00000327540:L61F	L	-	1	0	OR51B2	5301923	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	1.899000	0.39818	0.517000	0.28361	0.644000	0.83932	CTC		0.512	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		9	66	0	0	0	0	9	66				
LRRC4C	57689	broad.mit.edu	37	11	40136643	40136643	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:40136643T>A	ENST00000278198.2	-	2	3163	c.1200A>T	c.(1198-1200)aaA>aaT	p.K400N	LRRC4C_ENST00000527150.1_Missense_Mutation_p.K400N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K400N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K400N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	400	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTATCCGCACTTTGTACGCCC	0.463																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1198-1200)AAA>AAT		netrin-G1 ligand precursor							200.0	173.0	182.0					11																	40136643		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136643T>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1200A>T	11.37:g.40136643T>A	ENSP00000278198:p.Lys400Asn					LRRC4C_uc001mxc.1_Missense_Mutation_p.K396N|LRRC4C_uc001mxd.1_Missense_Mutation_p.K396N|LRRC4C_uc001mxb.1_Missense_Mutation_p.K396N	p.K400N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3164	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	400			Ig-like C2-type.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1200A>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.514942	0.27123	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.87	2.3	0.28687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047876	0.85682	D	0.000000	T	0.19805	0.0476	N	0.16790	0.44	0.47905	D	0.999549	B	0.29270	0.24	B	0.39590	0.304	T	0.04708	-1.0932	10	0.11794	T	0.64	.	8.8163	0.34998	0.0:0.2805:0.0:0.7195	.	400	Q9HCJ2	LRC4C_HUMAN	N	400	ENSP00000278198:K400N;ENSP00000436976:K400N;ENSP00000437132:K400N;ENSP00000434761:K400N	ENSP00000278198:K400N	K	-	3	2	LRRC4C	40093219	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.151000	0.31651	0.510000	0.28216	0.529000	0.55759	AAA		0.463	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		25	132	0	0	0	0	25	132				
LRP4	4038	broad.mit.edu	37	11	46900560	46900560	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:46900560C>T	ENST00000378623.1	-	22	3276	c.3034G>A	c.(3034-3036)Ggc>Agc	p.G1012S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1012					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.G1012C(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGGCTACAGCCGCCATTCTCC	0.567																																						uc001ndn.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3034-3036)GGC>AGC		low density lipoprotein receptor-related protein							132.0	135.0	134.0					11																	46900560		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46900560C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3034G>A	11.37:g.46900560C>T	ENSP00000367888:p.Gly1012Ser						p.G1012S	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	22	3180	-			1012			Extracellular (Potential).		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3034G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	36	5.606917	0.96626	.	.	ENSG00000134569	ENST00000378623	D	0.98164	-4.76	5.51	5.51	0.81932	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.99052	0.9675	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.99741	1.1015	10	0.87932	D	0	.	19.782	0.96420	0.0:1.0:0.0:0.0	.	1012	O75096	LRP4_HUMAN	S	1012	ENSP00000367888:G1012S	ENSP00000367888:G1012S	G	-	1	0	LRP4	46857136	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	5.815000	0.69215	2.757000	0.94681	0.462000	0.41574	GGC		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		9	148	0	0	0	0	9	148				
OR4C46	119749	broad.mit.edu	37	11	51515672	51515672	+	Missense_Mutation	SNP	A	A	C	rs140334906	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:51515672A>C	ENST00000328188.1	+	1	391	c.391A>C	c.(391-393)Atg>Ctg	p.M131L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M131V(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTTGCACTATATGACTATCAT	0.478																																						uc010ric.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(391-393)ATG>CTG		olfactory receptor, family 4, subfamily C,							177.0	171.0	173.0					11																	51515672		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515672A>C		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.391A>C	11.37:g.51515672A>C	ENSP00000329056:p.Met131Leu						p.M131L	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	391	+			131			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.391A>C	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.308056	0.00240	.	.	ENSG00000185926	ENST00000328188	T	0.18960	2.18	2.63	-1.56	0.08532	GPCR, rhodopsin-like superfamily (1);	0.561957	0.15234	N	0.273249	T	0.06917	0.0176	N	0.05574	-0.02	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38499	-0.9658	10	0.08837	T	0.75	.	4.4702	0.11708	0.4875:0.385:0.1275:0.0	.	131	A6NHA9	O4C46_HUMAN	L	131	ENSP00000329056:M131L	ENSP00000329056:M131L	M	+	1	0	OR4C46	51372248	0.000000	0.05858	0.016000	0.15963	0.005000	0.04900	-0.555000	0.05999	-0.142000	0.11354	0.113000	0.15668	ATG		0.478	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		31	69	0	0	0	0	31	69				
OR5L1	219437	broad.mit.edu	37	11	55579363	55579363	+	Missense_Mutation	SNP	C	C	T	rs372180673		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:55579363C>T	ENST00000333973.2	+	1	510	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTGGAAGGTGCGTGTGGAGCT	0.498																																						uc001nhw.1		NA																	0				skin(3)|ovary(2)	5						c.(421-423)CGT>TGT		olfactory receptor, family 5, subfamily L,							217.0	174.0	189.0					11																	55579363		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579363C>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.421C>T	11.37:g.55579363C>T	ENSP00000335529:p.Arg141Cys						p.R141C	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	421	+		all_epithelial(135;0.208)	141			Helical; Name=4; (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.421C>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	0.012	-1.658582	0.00779	.	.	ENSG00000186117	ENST00000333973	T	0.34275	1.37	3.98	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.359275	0.24386	N	0.038975	T	0.05868	0.0153	N	0.00065	-2.305	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.42916	-0.9423	10	0.02654	T	1	-1.0929	9.8759	0.41202	0.0:0.0985:0.0:0.9015	.	141	Q8NGL2	OR5L1_HUMAN	C	141	ENSP00000335529:R141C	ENSP00000335529:R141C	R	+	1	0	OR5L1	55335939	0.084000	0.21492	0.001000	0.08648	0.005000	0.04900	0.517000	0.22832	0.026000	0.15269	-1.420000	0.01111	CGT		0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		15	64	0	0	0	0	15	64				
OR5R1	219479	broad.mit.edu	37	11	56185142	56185142	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:56185142G>A	ENST00000312253.1	-	1	566	c.567C>T	c.(565-567)tgC>tgT	p.C189C		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTGTGTCTGAGCAGGACAGAG	0.428																																						uc010rji.1		NA																	0				ovary(2)	2						c.(565-567)TGC>TGT		olfactory receptor, family 5, subfamily R,							96.0	84.0	88.0					11																	56185142		2201	4295	6496	SO:0001819	synonymous_variant	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185142G>A	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.567C>T	11.37:g.56185142G>A							p.C189C	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	567	-	Esophageal squamous(21;0.00448)		189			Extracellular (Potential).			Silent	SNP	ENST00000312253.1	37	c.567C>T	CCDS31530.1																																																																																				0.428	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		5	43	0	0	0	0	5	43				
OR10W1	81341	broad.mit.edu	37	11	58034658	58034658	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:58034658G>T	ENST00000395079.2	-	1	1074	c.673C>A	c.(673-675)Cgc>Agc	p.R225S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCCCGGTGGCGGCCAGCAGCC	0.587																																						uc001nmq.1		NA																	0				ovary(1)	1						c.(673-675)CGC>AGC		olfactory receptor, family 10, subfamily W,							76.0	76.0	76.0					11																	58034658		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034658G>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.673C>A	11.37:g.58034658G>T	ENSP00000378516:p.Arg225Ser						p.R225S	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	1075	-		Breast(21;0.0589)	225			Cytoplasmic (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.673C>A	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404982	0.62288	.	.	ENSG00000172772	ENST00000395079	T	0.00311	8.15	6.01	6.01	0.97437	GPCR, rhodopsin-like superfamily (1);	0.128295	0.36167	N	0.002749	T	0.00754	0.0025	M	0.88570	2.965	0.09310	N	1	D	0.63880	0.993	P	0.62014	0.897	T	0.42999	-0.9418	10	0.72032	D	0.01	.	14.8995	0.70666	0.0:0.0:0.8566:0.1434	.	225	Q8NGF6	O10W1_HUMAN	S	225	ENSP00000378516:R225S	ENSP00000378516:R225S	R	-	1	0	OR10W1	57791234	0.000000	0.05858	0.960000	0.40013	0.820000	0.46376	0.117000	0.15583	2.850000	0.98022	0.655000	0.94253	CGC		0.587	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		6	43	1	0	2.18e-05	2.37e-05	6	43				
RTN3	10313	broad.mit.edu	37	11	63517599	63517599	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:63517599C>T	ENST00000377819.5	+	4	2821	c.2667C>T	c.(2665-2667)gtC>gtT	p.V889V	RTN3_ENST00000537981.1_Silent_p.V93V|RTN3_ENST00000356000.3_Silent_p.V112V|RTN3_ENST00000339997.4_Silent_p.V870V|RTN3_ENST00000540798.1_Silent_p.V777V|RTN3_ENST00000341307.2_Silent_p.V93V|RTN3_ENST00000354497.4_Silent_p.V93V	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	889	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTCTCTCTGTCACCATCAGCT	0.473																																						uc001nxq.2		NA																	0				ovary(1)	1						c.(2665-2667)GTC>GTT		reticulon 3 isoform b							94.0	72.0	79.0					11																	63517599		2201	4294	6495	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63517599C>T	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2667C>T	11.37:g.63517599C>T						RTN3_uc001nxo.2_Silent_p.V93V|RTN3_uc001nxm.2_Silent_p.V112V|RTN3_uc001nxn.2_Silent_p.V870V|RTN3_uc001nxp.2_Silent_p.V93V|RTN3_uc009yov.2_Silent_p.V777V|RTN3_uc010rmt.1_RNA|RTN3_uc010rmu.1_Silent_p.V93V	p.V889V	NM_201428	NP_958831	O95197	RTN3_HUMAN			4	2854	+			889			Reticulon.		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.2667C>T	CCDS58141.1																																																																																				0.473	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		5	9	0	0	0	0	5	9				
C2CD3	26005	broad.mit.edu	37	11	73789513	73789513	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:73789513G>A	ENST00000334126.7	-	23	4476	c.4250C>T	c.(4249-4251)cCc>cTc	p.P1417L	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1417L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1417				P -> S (in Ref. 1; BAE17137). {ECO:0000305}.	brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACAATGGATGGGCAGCCACAG	0.493																																						uc001ouu.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(4249-4251)CCC>CTC		C2 calcium-dependent domain containing 3							63.0	59.0	60.0					11																	73789513		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73789513G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4250C>T	11.37:g.73789513G>A	ENSP00000334379:p.Pro1417Leu					C2CD3_uc001out.2_RNA	p.P1417L	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			23	4477	-	Breast(11;4.16e-06)		1417	P -> S (in Ref. 1; BAE17137).				C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.4250C>T		.	.	.	.	.	.	.	.	.	.	G	26.2	4.711922	0.89112	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.28454	1.72;1.87;1.61	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.60777	-0.7196	10	0.87932	D	0	-11.5321	18.5433	0.91037	0.0:0.0:1.0:0.0	.	1417	Q4AC94-1	.	L	1417;1417;1398;225	ENSP00000334379:P1417L;ENSP00000323339:P1417L;ENSP00000388750:P225L	ENSP00000323339:P1417L	P	-	2	0	C2CD3	73467161	1.000000	0.71417	0.966000	0.40874	0.925000	0.55904	7.640000	0.83355	2.472000	0.83506	0.655000	0.94253	CCC		0.493	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		18	41	0	0	0	0	18	41				
MOGAT2	80168	broad.mit.edu	37	11	75439149	75439149	+	Missense_Mutation	SNP	C	C	T	rs144185928	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:75439149C>T	ENST00000198801.5	+	4	680	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	MOGAT2_ENST00000526712.1_Missense_Mutation_p.R122W	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	204					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GCTGTTACTGCGGAACCGAAA	0.562													C|||	7	0.00139776	0.0	0.0	5008	,	,		18805	0.0		0.0	False		,,,				2504	0.0072					uc010rru.1		NA																	0				ovary(2)	2						c.(610-612)CGG>TGG		monoacylglycerol O-acyltransferase 2		C	TRP/ARG	0,4400		0,0,2200	51.0	44.0	46.0		610	0.7	0.0	11	dbSNP_134	46	4,8582	3.7+/-12.6	0,4,4289	no	missense	MOGAT2	NM_025098.2	101	0,4,6489	TT,TC,CC		0.0466,0.0,0.0308	possibly-damaging	204/335	75439149	4,12982	2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75439149C>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.610C>T	11.37:g.75439149C>T	ENSP00000198801:p.Arg204Trp					MOGAT2_uc001oww.1_Missense_Mutation_p.R204W|MOGAT2_uc010rrv.1_Missense_Mutation_p.R122W	p.R204W	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			4	610	+	Ovarian(111;0.103)		204					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.610C>T	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297114	0.60086	0.0	4.66E-4	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.14391	2.51;2.51	5.93	0.727	0.18254	.	0.627824	0.16940	N	0.193304	T	0.41236	0.1150	M	0.90082	3.085	0.09310	N	1	D;D	0.76494	0.977;0.999	P;P	0.62184	0.832;0.899	T	0.49341	-0.8950	10	0.72032	D	0.01	-9.9562	16.374	0.83379	0.8123:0.1877:0.0:0.0	.	204;204	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	W	204;122	ENSP00000198801:R204W;ENSP00000436283:R122W	ENSP00000198801:R204W	R	+	1	2	MOGAT2	75116797	0.000000	0.05858	0.004000	0.12327	0.644000	0.38419	0.158000	0.16422	0.174000	0.19809	-0.226000	0.12346	CGG		0.562	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		5	28	0	0	0	0	5	28				
SYTL2	54843	broad.mit.edu	37	11	85456724	85456724	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:85456724G>A	ENST00000528231.1	-	3	622	c.345C>T	c.(343-345)ggC>ggT	p.G115G	SYTL2_ENST00000389960.4_Silent_p.G115G|SYTL2_ENST00000527523.1_Silent_p.G67G|SYTL2_ENST00000524452.1_Silent_p.G115G|SYTL2_ENST00000316356.4_Silent_p.G115G	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	115					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTCTACAACGCCAGCCAGCT	0.517																																						uc010rth.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(343-345)GGC>GGT		synaptotagmin-like 2 isoform g							166.0	147.0	154.0					11																	85456724		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85456724G>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.345C>T	11.37:g.85456724G>A						SYTL2_uc010rtg.1_Silent_p.G115G|SYTL2_uc010rti.1_Silent_p.G115G|SYTL2_uc010rtj.1_Silent_p.G67G|SYTL2_uc001pbf.3_Silent_p.G115G	p.G115G	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	3	621	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	115					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.345C>T	CCDS53688.1																																																																																				0.517	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		7	78	0	0	0	0	7	78				
DYNC2H1	79659	broad.mit.edu	37	11	103029735	103029735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:103029735C>T	ENST00000375735.2	+	28	4501	c.4357C>T	c.(4357-4359)Cac>Tac	p.H1453Y	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H1453Y|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1453	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATTCAGTCTCACCTGAAGAA	0.363																																						uc001pho.2		NA																	0					0						c.(4357-4359)CAC>TAC		dynein, cytoplasmic 2, heavy chain 1							52.0	49.0	50.0					11																	103029735		1816	4076	5892	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103029735C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4357C>T	11.37:g.103029735C>T	ENSP00000364887:p.His1453Tyr					DYNC2H1_uc001phn.1_Missense_Mutation_p.H1453Y|DYNC2H1_uc009yxe.1_Intron	p.H1453Y	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	28	4501	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1453			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.4357C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712787	0.89112	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.67865	-0.29;-0.29	5.36	5.36	0.76844	Dynein heavy chain, domain-2 (1);	0.000000	0.53938	U	0.000046	D	0.86314	0.5903	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88960	0.3393	10	0.87932	D	0	.	19.4599	0.94912	0.0:1.0:0.0:0.0	.	1453;1453	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	Y	1453	ENSP00000364887:H1453Y;ENSP00000381167:H1453Y	ENSP00000364887:H1453Y	H	+	1	0	DYNC2H1	102534945	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.501000	0.81600	2.671000	0.90904	0.563000	0.77884	CAC		0.363	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		3	21	0	0	0	0	3	21				
FGF23	8074	broad.mit.edu	37	12	4479716	4479716	+	Silent	SNP	G	G	A	rs369808475		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:4479716G>A	ENST00000237837.1	-	3	694	c.549C>T	c.(547-549)gaC>gaT	p.D183D		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	183					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GCTCCGAGTCGTCCTCGGCGC	0.682																																						uc001qmq.1		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(547-549)GAC>GAT		fibroblast growth factor 23 precursor		G		0,4404		0,0,2202	25.0	30.0	28.0		549	-1.7	0.0	12		28	1,8599		0,1,4299	no	coding-synonymous	FGF23	NM_020638.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		183/252	4479716	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479716G>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.549C>T	12.37:g.4479716G>A							p.D183D	NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	695	-			183					Q4V758	Silent	SNP	ENST00000237837.1	37	c.549C>T	CCDS8526.1																																																																																				0.682	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			9	36	0	0	0	0	9	36				
C12orf36	283422	broad.mit.edu	37	12	13529255	13529255	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:13529255C>T	ENST00000318426.2	-	2	302	c.85G>A	c.(85-87)Gac>Aac	p.D29N	C12orf36_ENST00000527705.2_Missense_Mutation_p.D29N|C12orf36_ENST00000539026.1_Missense_Mutation_p.D29N|C12orf36_ENST00000532841.1_Missense_Mutation_p.D29N|C12orf36_ENST00000531049.1_5'UTR					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		catgaagtgtcttcatcagga	0.478																																						uc001rbs.1		NA																	0					0						c.(85-87)GAC>AAC		hypothetical protein LOC283422							96.0	94.0	95.0					12																	13529255		2203	4300	6503	SO:0001583	missense	283422							g.chr12:13529255C>T	AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.85G>A	12.37:g.13529255C>T	ENSP00000443007:p.Asp29Asn						p.D29N	NM_182558	NP_872364				BRCA - Breast invasive adenocarcinoma(232;0.198)	2	303	-									Missense_Mutation	SNP	ENST00000318426.2	37	c.85G>A		.	.	.	.	.	.	.	.	.	.	C	6.629	0.484528	0.12641	.	.	ENSG00000180861	ENST00000318426;ENST00000527705;ENST00000539026;ENST00000532841	T;T;T;T	0.59502	1.49;1.49;0.38;0.26	2.58	1.67	0.24075	.	.	.	.	.	T	0.50086	0.1595	.	.	.	0.09310	N	1	D	0.54047	0.964	P	0.45712	0.491	T	0.43015	-0.9417	8	0.87932	D	0	.	5.2493	0.15514	0.0:0.834:0.0:0.166	.	29	Q495D7	CL036_HUMAN	N	29	ENSP00000443007:D29N;ENSP00000443346:D29N;ENSP00000445251:D29N;ENSP00000440159:D29N	ENSP00000443007:D29N	D	-	1	0	C12orf36	13420522	0.002000	0.14202	0.008000	0.14137	0.014000	0.08584	0.005000	0.13129	0.642000	0.30620	0.462000	0.41574	GAC		0.478	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395025.2	NM_182558		5	16	0	0	0	0	5	16				
SLCO1C1	53919	broad.mit.edu	37	12	20905254	20905254	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:20905254G>A	ENST00000266509.2	+	15	2299	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	SLCO1C1_ENST00000381552.1_Silent_p.G678G|SLCO1C1_ENST00000545102.1_Silent_p.G560G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G595E|SLCO1C1_ENST00000545604.1_Silent_p.G678G	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	644					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	ATATATCTGGGACTAACTGTG	0.303																																						uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1930-1932)GGA>GAA		solute carrier organic anion transporter family,							43.0	43.0	43.0					12																	20905254		2202	4299	6501	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20905254G>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1931G>A	12.37:g.20905254G>A	ENSP00000266509:p.Gly644Glu					SLCO1C1_uc010sii.1_Silent_p.G678G|SLCO1C1_uc010sij.1_Missense_Mutation_p.G595E|SLCO1C1_uc009zip.2_Silent_p.G512G|SLCO1C1_uc001rei.2_Missense_Mutation_p.G644E|SLCO1C1_uc010sik.1_Silent_p.G560G	p.G644E	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			16	2286	+	Esophageal squamous(101;0.149)		644			Extracellular (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1931G>A	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227574	0.79576	.	.	ENSG00000139155	ENST00000540354;ENST00000266509	T;T	0.59906	0.23;0.23	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.834980	0.00744	N	0.001023	T	0.79088	0.4387	.	.	.	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.72338	0.913;0.977	T	0.60606	-0.7230	9	0.48119	T	0.1	.	16.1483	0.81586	0.0:0.0:1.0:0.0	.	595;644	B7Z3Q3;Q9NYB5	.;SO1C1_HUMAN	E	595;644	ENSP00000438665:G595E;ENSP00000266509:G644E	ENSP00000266509:G644E	G	+	2	0	SLCO1C1	20796521	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.529000	0.73812	2.797000	0.96272	0.655000	0.94253	GGA		0.303	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		4	23	0	0	0	0	4	23				
ASIC1	41	broad.mit.edu	37	12	50471784	50471784	+	Splice_Site	SNP	C	C	T	rs199702396	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:50471784C>T	ENST00000447966.2	+	5	940	c.711C>T	c.(709-711)gaC>gaT	p.D237D	ASIC1_ENST00000552438.1_Splice_Site_p.D271D|ASIC1_ENST00000228468.4_Splice_Site_p.D237D	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	237					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TTCCCCTAGACGAGACGTCCT	0.567													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18915	0.0		0.0	False		,,,				2504	0.0					uc001rvw.2		NA																	0				ovary(1)	1						c.(709-711)GAC>GAT		amiloride-sensitive cation channel 2, neuronal	Amiloride(DB00594)	C	,	0,4406		0,0,2203	149.0	120.0	130.0		711,711	-3.0	1.0	12		130	3,8597	2.2+/-6.3	0,3,4297	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ACCN2	NM_001095.2,NM_020039.2	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	237/529,237/575	50471784	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50471784C>T	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.710-1C>T	12.37:g.50471784C>T						ACCN2_uc001rvv.2_Silent_p.D237D|ACCN2_uc009zln.2_Silent_p.D28D|ACCN2_uc009zlo.2_Silent_p.D237D	p.D237D	NM_001095	NP_001086	P78348	ACCN2_HUMAN			5	940	+			237			Extracellular (By similarity).		A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	ENST00000447966.2	37	c.711C>T	CCDS44876.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.06	1.247255	0.22880	0.0	3.49E-4	ENSG00000110881	ENST00000453327	.	.	.	4.18	-3.01	0.05463	.	.	.	.	.	T	0.54127	0.1839	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50939	-0.8768	4	.	.	.	.	9.9479	0.41621	0.0:0.3771:0.0:0.6229	.	.	.	.	M	105	.	.	T	+	2	0	ACCN2	48758051	0.021000	0.18746	0.978000	0.43139	0.964000	0.63967	-0.982000	0.03762	-0.687000	0.05162	0.563000	0.77884	ACG		0.567	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039	Silent	12	69	0	0	0	0	12	69				
R3HDM2	22864	broad.mit.edu	37	12	57660592	57660592	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:57660592G>A	ENST00000347140.3	-	19	2401	c.2011C>T	c.(2011-2013)Ccc>Tcc	p.P671S	R3HDM2_ENST00000402412.1_Missense_Mutation_p.P685S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P398S|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P366S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P705S|R3HDM2_ENST00000546843.1_5'UTR|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P671S			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	671	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGCCAGGGGGTTGCAGAAAC	0.552																																						uc009zpm.1		NA																	0				ovary(2)	2						c.(2011-2013)CCC>TCC		R3H domain containing 2							78.0	60.0	66.0					12																	57660592		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57660592G>A	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2011C>T	12.37:g.57660592G>A	ENSP00000317903:p.Pro671Ser					R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.P366S|R3HDM2_uc001snr.2_Missense_Mutation_p.P398S|R3HDM2_uc001sns.2_Missense_Mutation_p.P671S|R3HDM2_uc001snt.2_Missense_Mutation_p.P685S|R3HDM2_uc009zpn.1_Intron	p.P671S	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			17	2046	-			671			Gln-rich.		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.2011C>T	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937941	0.52972	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000548161	T;T;T;T;T;T;T;T	0.47177	0.89;0.85;1.85;1.86;1.85;0.85;1.46;1.83	4.83	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	L	0.48642	1.525	0.46521	D	0.999085	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.994;0.998	T	0.61525	-0.7045	10	0.45353	T	0.12	-5.4841	14.4238	0.67202	0.0:0.149:0.8509:0.0	.	705;685;671;398	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	S	398;398;671;685;671;366;436;705;60	ENSP00000409146:P398S;ENSP00000377400:P398S;ENSP00000317903:P671S;ENSP00000385839:P685S;ENSP00000351784:P671S;ENSP00000408536:P366S;ENSP00000394676:P436S;ENSP00000385169:P705S	ENSP00000317903:P671S	P	-	1	0	R3HDM2	55946859	1.000000	0.71417	0.896000	0.35187	0.994000	0.84299	7.183000	0.77697	1.399000	0.46721	0.650000	0.86243	CCC		0.552	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		5	16	0	0	0	0	5	16				
NAV3	89795	broad.mit.edu	37	12	78516145	78516145	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:78516145G>A	ENST00000397909.2	+	16	4348	c.4175G>A	c.(4174-4176)gGc>gAc	p.G1392D	NAV3_ENST00000228327.6_Missense_Mutation_p.G1392D|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.G1392D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1392	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGACCACAGGCACTCACGAG	0.547										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4174-4176)GGC>GAC		neuron navigator 3							115.0	105.0	108.0					12																	78516145		2022	4198	6220	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78516145G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4175G>A	12.37:g.78516145G>A	ENSP00000381007:p.Gly1392Asp	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.G1392D|NAV3_uc010sub.1_Missense_Mutation_p.G892D|NAV3_uc009zsf.2_Intron	p.G1392D	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			16	4348	+			1392			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4175G>A		.	.	.	.	.	.	.	.	.	.	G	16.42	3.119031	0.56505	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000378640;ENST00000550788	T;T;T;T	0.26518	1.73;1.74;1.73;2.55	5.97	5.97	0.96955	.	0.169041	0.27787	U	0.017845	T	0.20047	0.0482	N	0.08118	0	0.80722	D	1	B;P;P	0.50272	0.286;0.546;0.933	B;B;P	0.44811	0.097;0.122;0.461	T	0.04128	-1.0975	10	0.36615	T	0.2	-18.4809	20.4238	0.99064	0.0:0.0:1.0:0.0	.	1392;1392;1392	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	D	1392;1392;1392;27;35	ENSP00000446132:G1392D;ENSP00000381007:G1392D;ENSP00000228327:G1392D;ENSP00000448303:G35D	ENSP00000228327:G1392D	G	+	2	0	NAV3	77040276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.652000	0.61454	2.828000	0.97474	0.655000	0.94253	GGC		0.547	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		14	79	0	0	0	0	14	79				
ACACB	32	broad.mit.edu	37	12	109660402	109660402	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:109660402A>G	ENST00000338432.7	+	25	3774	c.3655A>G	c.(3655-3657)Aaa>Gaa	p.K1219E	ACACB_ENST00000377854.5_Missense_Mutation_p.K1149E|ACACB_ENST00000377848.3_Missense_Mutation_p.K1219E			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1219					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGAGCACTGCAAAGTGGCCCT	0.622																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(3655-3657)AAA>GAA		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						82.0	74.0	77.0					12																	109660402		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109660402A>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3655A>G	12.37:g.109660402A>G	ENSP00000341044:p.Lys1219Glu					ACACB_uc001toc.2_Missense_Mutation_p.K1219E	p.K1219E	NM_001093	NP_001084	O00763	ACACB_HUMAN			25	3774	+			1219					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3655A>G	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055809	0.76074	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.45668	0.89;0.89;0.89	5.17	5.17	0.71159	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.69052	0.3068	M	0.91196	3.185	0.80722	D	1	D	0.55800	0.973	P	0.61874	0.895	T	0.76049	-0.3101	10	0.51188	T	0.08	.	15.2981	0.73925	1.0:0.0:0.0:0.0	.	1219	O00763	ACACB_HUMAN	E	1219;1219;1149;450	ENSP00000341044:K1219E;ENSP00000367079:K1219E;ENSP00000367085:K1149E	ENSP00000341044:K1219E	K	+	1	0	ACACB	108144785	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.172000	0.94808	2.074000	0.62210	0.528000	0.53228	AAA		0.622	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		7	26	0	0	0	0	7	26				
TUBA3C	7278	broad.mit.edu	37	13	19751321	19751321	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr13:19751321G>C	ENST00000400113.3	-	4	906	c.802C>G	c.(802-804)Ccc>Gcc	p.P268A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	268					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTGGCCAGGGGGAAGTGGATG	0.617																																						uc009zzj.2		NA																	0				ovary(3)|skin(2)	5						c.(802-804)CCC>GCC		tubulin, alpha 3c							126.0	116.0	119.0					13																	19751321		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751321G>C	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.802C>G	13.37:g.19751321G>C	ENSP00000382982:p.Pro268Ala						p.P268A	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	851	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	268					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.802C>G	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	10.60	1.396628	0.25205	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.80994	-1.44	1.19	1.19	0.21007	.	0.000000	0.47852	U	0.000219	D	0.82398	0.5028	.	.	.	0.43476	D	0.995698	.	.	.	.	.	.	T	0.82220	-0.0565	7	0.87932	D	0	.	8.3297	0.32178	0.0:0.0:1.0:0.0	.	.	.	.	A	268	ENSP00000382982:P268A	ENSP00000354037:P268A	P	-	1	0	TUBA3C	18649321	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	6.128000	0.71650	0.972000	0.38314	0.175000	0.17021	CCC		0.617	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		32	80	0	0	0	0	32	80				
SPATA13	221178	broad.mit.edu	37	13	24868931	24868931	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr13:24868931G>A	ENST00000382095.4	+	9	1667	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	SPATA13_ENST00000424834.2_Silent_p.L1045L|SPATA13_ENST00000399949.2_Silent_p.L342L|RP11-307N16.6_ENST00000382141.4_Silent_p.L923L|SPATA13_ENST00000382108.3_Silent_p.L1045L|SPATA13_ENST00000343003.6_Silent_p.L364L|SPATA13_ENST00000409126.1_Silent_p.L280L	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	420	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGCCTGTCTGATCAACGAGC	0.488																																						uc001upg.1		NA																	0				skin(2)|ovary(1)	3						c.(1258-1260)CTG>CTA		spermatogenesis associated 13							142.0	117.0	125.0					13																	24868931		2203	4300	6503	SO:0001819	synonymous_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24868931G>A	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1260G>A	13.37:g.24868931G>A						SPATA13_uc001upd.1_Silent_p.L1045L|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Silent_p.L366L|SPATA13_uc010tcz.1_Silent_p.L304L|SPATA13_uc010tda.1_Silent_p.L364L|SPATA13_uc001uph.2_Silent_p.L342L|SPATA13_uc010tdb.1_Silent_p.L280L|SPATA13_uc009zzz.1_Intron|SPATA13_uc001upi.1_5'Flank	p.L420L	NM_153023	NP_694568	Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	9	1667	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	420			DH.		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	c.1260G>A	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	G	7.582	0.668966	0.14776	.	.	ENSG00000182957	ENST00000424834	.	.	.	5.42	4.38	0.52667	.	.	.	.	.	T	0.60495	0.2273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57388	-0.7820	4	.	.	.	.	9.6997	0.40178	0.2139:0.0:0.7861:0.0	.	.	.	.	N	1083	.	.	D	+	1	0	SPATA13	23766931	0.992000	0.36948	0.998000	0.56505	0.686000	0.39977	0.192000	0.17096	2.558000	0.86282	0.561000	0.74099	GAT		0.488	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		11	47	0	0	0	0	11	47				
FLT1	2321	broad.mit.edu	37	13	28959121	28959121	+	Missense_Mutation	SNP	C	C	T	rs137937570		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr13:28959121C>T	ENST00000282397.4	-	14	2268	c.2017G>A	c.(2017-2019)Gcc>Acc	p.A673T	FLT1_ENST00000541932.1_Missense_Mutation_p.A673T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	673	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGCTGATGGCCACTGTGTGA	0.448																																						uc001usb.3		NA																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2017-2019)GCC>ACC		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)	C	THR/ALA,THR/ALA	0,4406		0,0,2203	224.0	199.0	207.0		2017,2017	0.4	0.0	13	dbSNP_134	207	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FLT1	NM_001160030.1,NM_002019.4	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	673/734,673/1339	28959121	1,13005	2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28959121C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2017G>A	13.37:g.28959121C>T	ENSP00000282397:p.Ala673Thr					FLT1_uc010aar.1_Missense_Mutation_p.A673T	p.A673T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	14	2302	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	673			Ig-like C2-type 7.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2017G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938168	0.34189	0.0	1.16E-4	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.66995	-0.24;-0.24	5.72	0.376	0.16193	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.509402	0.20545	N	0.090235	T	0.35008	0.0917	N	0.10809	0.05	0.21553	N	0.999644	B;B	0.16166	0.016;0.003	B;B	0.16289	0.015;0.006	T	0.07616	-1.0763	10	0.17369	T	0.5	.	0.5008	0.00579	0.3806:0.2482:0.1388:0.2324	.	673;673	P17948-3;P17948	.;VGFR1_HUMAN	T	673	ENSP00000282397:A673T;ENSP00000437631:A673T	ENSP00000282397:A673T	A	-	1	0	FLT1	27857121	0.994000	0.37717	0.005000	0.12908	0.846000	0.48090	1.299000	0.33424	-0.049000	0.13379	0.655000	0.94253	GCC		0.448	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			25	70	0	0	0	0	25	70				
PDS5B	23047	broad.mit.edu	37	13	33247377	33247377	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr13:33247377G>C	ENST00000315596.10	+	8	916	c.730G>C	c.(730-732)Ggg>Cgg	p.G244R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	244					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCTGATGCTTGGGAAAACATC	0.353																																						uc010abf.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(730-732)GGG>CGG		PDS5, regulator of cohesion maintenance, homolog							142.0	125.0	130.0					13																	33247377		1802	4077	5879	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33247377G>C	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.730G>C	13.37:g.33247377G>C	ENSP00000313851:p.Gly244Arg					PDS5B_uc001uuo.2_Missense_Mutation_p.G244R|PDS5B_uc010abg.2_RNA|PDS5B_uc010teb.1_5'Flank	p.G244R	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	8	888	+		Lung SC(185;0.0367)	244					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.730G>C	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070603	0.93950	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72487	-0.4278	9	0.20046	T	0.44	-10.3976	19.7654	0.96337	0.0:0.0:1.0:0.0	.	244;244	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	R	244	.	ENSP00000313851:G244R	G	+	1	0	PDS5B	32145377	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.700000	0.98707	2.659000	0.90383	0.655000	0.94253	GGG		0.353	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		18	49	0	0	0	0	18	49				
OR4N2	390429	broad.mit.edu	37	14	20295797	20295797	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:20295797G>C	ENST00000315947.1	+	1	190	c.190G>C	c.(190-192)Ggc>Cgc	p.G64R	OR4N2_ENST00000568211.1_Missense_Mutation_p.G64R	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTTTCTGGGCAACTTGGC	0.468																																						uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(190-192)GGC>CGC		olfactory receptor, family 4, subfamily N,							171.0	203.0	192.0					14																	20295797		2203	4297	6500	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295797G>C		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.190G>C	14.37:g.20295797G>C	ENSP00000319601:p.Gly64Arg						p.G64R	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	190	+	all_cancers(95;0.00108)		64			Helical; Name=2; (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.190G>C	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	16.61	3.169975	0.57584	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.04406	3.63;3.63	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000154	T	0.04907	0.0132	N	0.03115	-0.41	0.32061	N	0.595743	P	0.52692	0.955	P	0.55345	0.774	T	0.46331	-0.9199	10	0.17832	T	0.49	-10.3037	14.6285	0.68640	0.0:0.0:1.0:0.0	.	64	Q8NGD1	OR4N2_HUMAN	R	64	ENSP00000452022:G64R;ENSP00000319601:G64R	ENSP00000319601:G64R	G	+	1	0	OR4N2	19365637	0.000000	0.05858	1.000000	0.80357	0.966000	0.64601	0.090000	0.15025	2.374000	0.81015	0.591000	0.81541	GGC		0.468	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			92	538	0	0	0	0	92	538				
OR4E2	26686	broad.mit.edu	37	14	22134074	22134074	+	Missense_Mutation	SNP	C	C	T	rs370388172		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:22134074C>T	ENST00000408935.1	+	1	778	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CATCTATACTCGGCCAGACAC	0.512																																						uc010tmd.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(778-780)CGG>TGG		olfactory receptor, family 4, subfamily E,		C	TRP/ARG	0,3872		0,0,1936	74.0	72.0	73.0		778	3.8	1.0	14		73	1,8271		0,1,4135	no	missense	OR4E2	NM_001001912.1	101	0,1,6071	TT,TC,CC		0.0121,0.0,0.0082	benign	260/314	22134074	1,12143	1936	4136	6072	SO:0001583	missense	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22134074C>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.778C>T	14.37:g.22134074C>T	ENSP00000386195:p.Arg260Trp						p.R260W	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	778	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	260			Extracellular (Potential).		Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.778C>T	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597508	0.46318	0.0	1.21E-4	ENSG00000221977	ENST00000408935	T	0.37915	1.17	5.68	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.579760	0.13087	N	0.414827	T	0.39572	0.1083	M	0.79475	2.455	0.37001	D	0.895271	P	0.43885	0.82	B	0.41088	0.347	T	0.42396	-0.9454	10	0.44086	T	0.13	.	7.2781	0.26296	0.2973:0.6237:0.0:0.079	.	260	Q8NGC2	OR4E2_HUMAN	W	260	ENSP00000386195:R260W	ENSP00000386195:R260W	R	+	1	2	OR4E2	21203914	0.000000	0.05858	0.999000	0.59377	0.982000	0.71751	0.477000	0.22196	0.799000	0.34018	0.655000	0.94253	CGG		0.512	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			20	13	0	0	0	0	20	13				
PCK2	5106	broad.mit.edu	37	14	24566219	24566219	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:24566219C>T	ENST00000216780.4	+	2	416	c.148C>T	c.(148-150)Cac>Tac	p.H50Y	PCK2_ENST00000396973.4_Missense_Mutation_p.H50Y|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.H62Y|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000560657.1_3'UTR|NRL_ENST00000396997.1_5'Flank|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000561286.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	50					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TTTTGTAGAGCACAGTGCCCG	0.587																																						uc001wlt.2		NA																	0				ovary(1)	1						c.(148-150)CAC>TAC		mitochondrial phosphoenolpyruvate carboxykinase							90.0	81.0	84.0					14																	24566219		2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24566219C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.148C>T	14.37:g.24566219C>T	ENSP00000216780:p.His50Tyr					NRL_uc001wlp.2_5'Flank|NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.H62Y|PCK2_uc001wls.2_Missense_Mutation_p.H50Y|PCK2_uc010tnw.1_Intron|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.1_5'UTR|PCK2_uc001wlu.3_5'UTR	p.H50Y	NM_004563	NP_004554	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	2	280	+			50					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.148C>T	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	8.794	0.931184	0.18131	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	T;T	0.11385	2.78;2.78	5.52	3.68	0.42216	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.565308	0.20635	N	0.088510	T	0.06050	0.0157	N	0.11560	0.145	0.19300	N	0.999977	B;B;B	0.31485	0.083;0.325;0.024	B;B;B	0.32677	0.028;0.15;0.015	T	0.29458	-1.0011	10	0.87932	D	0	-10.1901	6.9766	0.24679	0.3068:0.6123:0.0:0.0808	.	50;50;50	Q16822;Q16822-2;Q6IB91	PCKGM_HUMAN;.;.	Y	50	ENSP00000216780:H50Y;ENSP00000380171:H50Y	ENSP00000216780:H50Y	H	+	1	0	PCK2	23636059	0.000000	0.05858	0.689000	0.30133	0.130000	0.20726	1.171000	0.31896	0.787000	0.33731	0.650000	0.86243	CAC		0.587	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		4	61	0	0	0	0	4	61				
LTB4R	1241	broad.mit.edu	37	14	24785327	24785327	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:24785327C>G	ENST00000396789.4	+	2	2195	c.470C>G	c.(469-471)aCa>aGa	p.T157R	LTB4R_ENST00000345363.3_Missense_Mutation_p.T157R|LTB4R_ENST00000396782.2_Missense_Mutation_p.T157R	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	157					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GCGTACCGCACAGTAGTGCCC	0.632																																						uc001wos.2		NA																	0					0						c.(469-471)ACA>AGA		leukotriene B4 receptor							68.0	69.0	69.0					14																	24785327		2203	4300	6503	SO:0001583	missense	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785327C>G	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.470C>G	14.37:g.24785327C>G	ENSP00000380008:p.Thr157Arg					LTB4R_uc010alp.2_Missense_Mutation_p.T157R|LTB4R_uc001wou.2_Missense_Mutation_p.T157R	p.T157R	NM_001143919	NP_001137391	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	791	+			157			Helical; Name=4; (Potential).		Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	c.470C>G	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	C	3.060	-0.193473	0.06259	.	.	ENSG00000213903	ENST00000345363;ENST00000396789;ENST00000556141;ENST00000396782	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.89	-9.63	0.00544	GPCR, rhodopsin-like superfamily (1);	0.433714	0.23648	U	0.045941	T	0.46054	0.1373	N	0.26162	0.8	0.19775	N	0.999956	B	0.17667	0.023	B	0.15052	0.012	T	0.37641	-0.9697	10	0.15952	T	0.53	.	13.5807	0.61901	0.7682:0.1059:0.0:0.1259	.	157	Q15722	LT4R1_HUMAN	R	157;157;57;157	ENSP00000307445:T157R;ENSP00000380008:T157R;ENSP00000451929:T57R;ENSP00000380002:T157R	ENSP00000307445:T157R	T	+	2	0	LTB4R	23855167	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	-2.625000	0.00875	-1.002000	0.03429	-0.169000	0.13324	ACA		0.632	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			43	37	0	0	0	0	43	37				
TSHR	7253	broad.mit.edu	37	14	81609450	81609450	+	Missense_Mutation	SNP	G	G	A	rs374530434		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:81609450G>A	ENST00000541158.2	+	11	1370	c.1048G>A	c.(1048-1050)Gct>Act	p.A350T	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.A350T			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	350					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCATAACAACGCTCATTATTA	0.448			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1		NA	yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		0				thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(1048-1050)GCT>ACT		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)	G	THR/ALA	0,4406		0,0,2203	240.0	216.0	225.0		1048	4.4	1.0	14		225	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSHR	NM_000369.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	350/765	81609450	1,13005	2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609450G>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1048G>A	14.37:g.81609450G>A	ENSP00000441235:p.Ala350Thr						p.A350T	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	1204	+			350			Extracellular (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1048G>A	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.253597	0.01457	0.0	1.16E-4	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.74842	-0.88;-0.88	5.58	4.44	0.53790	.	0.296506	0.39020	N	0.001494	T	0.46852	0.1414	N	0.08118	0	0.22081	N	0.999372	B	0.13145	0.007	B	0.06405	0.002	T	0.24083	-1.0170	10	0.12766	T	0.61	.	4.0193	0.09658	0.1231:0.0702:0.138:0.6687	.	350	F5GYU5	.	T	350	ENSP00000441235:A350T;ENSP00000298171:A350T	ENSP00000298171:A350T	A	+	1	0	TSHR	80679203	0.999000	0.42202	0.998000	0.56505	0.035000	0.12851	2.024000	0.41049	1.062000	0.40625	-0.262000	0.10625	GCT		0.448	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		8	61	0	0	0	0	8	61				
TRIP11	9321	broad.mit.edu	37	14	92491671	92491671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:92491671G>A	ENST00000267622.4	-	3	668	c.295C>T	c.(295-297)Caa>Taa	p.Q99*		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	99					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGTTGAAGTTGATTTCGGTAA	0.308			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(295-297)CAA>TAA		thyroid hormone receptor interactor 11							189.0	161.0	170.0					14																	92491671		2203	4299	6502	SO:0001587	stop_gained	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92491671G>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.295C>T	14.37:g.92491671G>A	ENSP00000267622:p.Gln99*						p.Q99*	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	3	1083	-			99			Potential.		B2RUT2|O14689|O15154|O95949	Nonsense_Mutation	SNP	ENST00000267622.4	37	c.295C>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	g	37	6.199392	0.97371	.	.	ENSG00000100815	ENST00000267622	.	.	.	5.5	4.6	0.57074	.	0.159691	0.45606	D	0.000356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3096	0.82864	0.0:0.1325:0.8675:0.0	.	.	.	.	X	99	.	ENSP00000267622:Q99X	Q	-	1	0	TRIP11	91561424	1.000000	0.71417	0.026000	0.17262	0.472000	0.32918	3.533000	0.53561	1.303000	0.44873	0.563000	0.77884	CAA		0.308	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			6	30	0	0	0	0	6	30				
AHNAK2	113146	broad.mit.edu	37	14	105416847	105416847	+	Silent	SNP	G	G	A	rs370540872		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:105416847G>A	ENST00000333244.5	-	7	5060	c.4941C>T	c.(4939-4941)gcC>gcT	p.A1647A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1647						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGCCTTGTCGGCCAGGGACA	0.607																																						uc010axc.1		NA																	0				ovary(1)	1						c.(4939-4941)GCC>GCT		AHNAK nucleoprotein 2		G		0,3876		0,0,1938	177.0	198.0	191.0		4941	-7.6	0.0	14		191	1,8195		0,1,4097	no	coding-synonymous	AHNAK2	NM_138420.2		0,1,6035	AA,AG,GG		0.0122,0.0,0.0083		1647/5796	105416847	1,12071	1938	4098	6036	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105416847G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4941C>T	14.37:g.105416847G>A						AHNAK2_uc001ypx.2_Silent_p.A1547A	p.A1647A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5061	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1647					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.4941C>T	CCDS45177.1																																																																																				0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		99	115	0	0	0	0	99	115				
FAM98B	283742	broad.mit.edu	37	15	38773502	38773502	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr15:38773502G>T	ENST00000491535.1	+	7	747	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	FAM98B_ENST00000397609.2_Missense_Mutation_p.D247Y	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	247						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GGTAAAAACAGATGATATAGC	0.328																																						uc001zkb.1		NA																	0				ovary(1)	1						c.(739-741)GAT>TAT		family with sequence similarity 98, member B							47.0	45.0	46.0					15																	38773502		2200	4297	6497	SO:0001583	missense	283742					tRNA-splicing ligase complex	protein binding	g.chr15:38773502G>T		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.739G>T	15.37:g.38773502G>T	ENSP00000453166:p.Asp247Tyr					FAM98B_uc001zkc.2_Missense_Mutation_p.D247Y	p.D247Y	NM_001042429	NP_001035894	Q52LJ0	FA98B_HUMAN		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)	7	774	+		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)	247					A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	c.739G>T	CCDS42015.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382667	0.82792	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	T	0.51325	0.71	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.68952	0.3057	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72988	-0.4124	10	0.87932	D	0	-30.7234	18.202	0.89842	0.0:0.0:1.0:0.0	.	247;247	A8MUW5;Q52LJ0	.;FA98B_HUMAN	Y	247	ENSP00000380734:D247Y	ENSP00000303412:D247Y	D	+	1	0	FAM98B	36560794	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.389000	0.79806	2.584000	0.87258	0.467000	0.42956	GAT		0.328	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		7	25	1	0	8.13e-05	8.76e-05	7	25				
NR2F2	7026	broad.mit.edu	37	15	96880846	96880846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr15:96880846C>T	ENST00000394166.3	+	3	2629	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*	NR2F2_ENST00000394171.2_Nonsense_Mutation_p.Q261*|NR2F2_ENST00000453270.2_Nonsense_Mutation_p.Q261*|NR2F2_ENST00000421109.2_Nonsense_Mutation_p.Q281*	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	414	Important for dimerization.|Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TATGGCAATTCAATAAATAAA	0.378																																						uc010uri.1		NA																	0				ovary(2)|breast(1)	3						c.(1240-1242)CAA>TAA		nuclear receptor subfamily 2, group F, member 2							59.0	66.0	63.0					15																	96880846		2197	4298	6495	SO:0001587	stop_gained	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96880846C>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.1240C>T	15.37:g.96880846C>T	ENSP00000377721:p.Gln414*					NR2F2_uc002btp.2_Nonsense_Mutation_p.Q281*|NR2F2_uc010urj.1_Nonsense_Mutation_p.Q261*|NR2F2_uc010urk.1_Nonsense_Mutation_p.Q261*	p.Q414*	NM_021005	NP_066285	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		3	2464	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		414			Interaction with ZFPM2 (By similarity).|Important for dimerization.|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Nonsense_Mutation	SNP	ENST00000394166.3	37	c.1240C>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	41	8.976000	0.99023	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9156	0.97061	0.0:1.0:0.0:0.0	.	.	.	.	X	281;414;261;261	.	ENSP00000377721:Q414X	Q	+	1	0	NR2F2	94681850	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.698000	0.92095	0.650000	0.86243	CAA		0.378	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			12	83	0	0	0	0	12	83				
ABCC1	4363	broad.mit.edu	37	16	16170205	16170205	+	Silent	SNP	C	C	T	rs150333922	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:16170205C>T	ENST00000399410.3	+	15	2110	c.1935C>T	c.(1933-1935)acC>acT	p.T645T	ABCC1_ENST00000349029.5_Silent_p.T645T|ABCC1_ENST00000399408.2_Silent_p.T645T|ABCC1_ENST00000345148.5_Silent_p.T645T|ABCC1_ENST00000351154.5_Silent_p.T645T|ABCC1_ENST00000346370.5_Silent_p.T645T	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	645	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	ACAGCATCACCGTGAGGAATG	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		19869	0.001		0.001	False		,,,				2504	0.0					uc010bvi.2		NA																	0				ovary(4)	4						c.(1933-1935)ACC>ACT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	C	,,,,	0,4308		0,0,2154	66.0	75.0	72.0		1935,1935,1935,1935,1935	-7.8	0.9	16	dbSNP_134	72	1,8493		0,1,4246	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	,,,,	0,1,6400	TT,TC,CC		0.0118,0.0,0.0078	,,,,	645/1532,645/1473,645/1476,645/1417,645/1467	16170205	1,12801	2154	4247	6401	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16170205C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1935C>T	16.37:g.16170205C>T						ABCC1_uc010bvj.2_Silent_p.T645T|ABCC1_uc010bvk.2_Silent_p.T645T|ABCC1_uc010bvl.2_Silent_p.T645T|ABCC1_uc010bvm.2_Silent_p.T645T|ABCC1_uc002del.3_Silent_p.T529T	p.T645T	NM_004996	NP_004987	P33527	MRP1_HUMAN			15	2110	+			645			ABC transporter 1.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.1935C>T	CCDS42122.1																																																																																				0.582	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		5	11	0	0	0	0	5	11				
ABCC6	368	broad.mit.edu	37	16	16256934	16256934	+	Missense_Mutation	SNP	C	C	T	rs572351621		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:16256934C>T	ENST00000205557.7	-	24	3451	c.3422G>A	c.(3421-3423)cGa>cAa	p.R1141Q		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1141	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GGCCTGGGTTCGGAATGCCCG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18706	0.0		0.0	False		,,,				2504	0.001					uc002den.3		NA																	0				skin(2)|ovary(1)	3						c.(3421-3423)CGA>CAA		ATP-binding cassette, sub-family C, member 6							78.0	81.0	80.0					16																	16256934		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16256934C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3422G>A	16.37:g.16256934C>T	ENSP00000205557:p.Arg1141Gln					ABCC6_uc010bvo.2_Intron	p.R1141Q	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	24	3459	-			1141			ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.3422G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750039	0.30955	.	.	ENSG00000091262	ENST00000205557	D	0.89617	-2.54	5.42	-3.93	0.04143	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.054990	0.07511	N	0.908884	T	0.79317	0.4425	N	0.21545	0.675	0.33524	D	0.592821	B	0.20671	0.047	B	0.10450	0.005	T	0.63033	-0.6727	10	0.15499	T	0.54	.	13.3527	0.60611	0.0:0.3756:0.0:0.6244	.	1141	O95255	MRP6_HUMAN	Q	1141	ENSP00000205557:R1141Q	ENSP00000205557:R1141Q	R	-	2	0	ABCC6	16164435	0.000000	0.05858	0.720000	0.30636	0.652000	0.38707	-0.279000	0.08479	-0.581000	0.05937	0.655000	0.94253	CGA		0.597	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			18	55	0	0	0	0	18	55				
ZNF646	9726	broad.mit.edu	37	16	31090886	31090886	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:31090886T>G	ENST00000394979.2	+	1	3664	c.3241T>G	c.(3241-3243)Tgc>Ggc	p.C1081G	ZNF646_ENST00000300850.5_Missense_Mutation_p.C1081G			O15015	ZN646_HUMAN	zinc finger protein 646	1081					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGACTTTCTCTGCCCTGTCTG	0.627																																						uc002eap.2		NA																	0				breast(2)	2						c.(3241-3243)TGC>GGC		zinc finger protein 646							141.0	147.0	145.0					16																	31090886		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090886T>G	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3241T>G	16.37:g.31090886T>G	ENSP00000378429:p.Cys1081Gly						p.C1081G	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	3530	+			1081			C2H2-type 19.		Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.3241T>G		.	.	.	.	.	.	.	.	.	.	T	19.59	3.856792	0.71834	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.60171	0.21;0.21	5.75	5.75	0.90469	.	.	.	.	.	D	0.83321	0.5229	H	0.96430	3.82	0.54753	D	0.999983	D	0.89917	1.0	D	0.81914	0.995	D	0.88663	0.3190	9	0.87932	D	0	-23.138	15.0497	0.71858	0.0:0.0:0.0:1.0	.	1081	O15015-2	.	G	1081	ENSP00000300850:C1081G;ENSP00000378429:C1081G	ENSP00000300850:C1081G	C	+	1	0	ZNF646	30998387	1.000000	0.71417	0.990000	0.47175	0.912000	0.54170	5.111000	0.64628	2.192000	0.70111	0.460000	0.39030	TGC		0.627	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		47	118	0	0	0	0	47	118				
ZNF423	23090	broad.mit.edu	37	16	49670062	49670062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:49670062C>T	ENST00000561648.1	-	4	3054	c.3001G>A	c.(3001-3003)Gag>Aag	p.E1001K	ZNF423_ENST00000567169.1_Missense_Mutation_p.E884K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E941K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E1001K|ZNF423_ENST00000562520.1_Missense_Mutation_p.E941K|ZNF423_ENST00000562871.1_Missense_Mutation_p.E941K|ZNF423_ENST00000535559.1_Missense_Mutation_p.E884K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1001					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATAAACTCCTCCTCGCTCTGC	0.592																																						uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(3001-3003)GAG>AAG		zinc finger protein 423							71.0	65.0	67.0					16																	49670062		2199	4300	6499	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670062C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3001G>A	16.37:g.49670062C>T	ENSP00000455426:p.Glu1001Lys					ZNF423_uc010vgn.1_Missense_Mutation_p.E884K	p.E1001K	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	3299	-		all_cancers(37;0.0155)	1001					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3001G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525671	0.85600	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09445	2.98;3.03	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	L	0.27053	0.805	0.53688	D	0.999976	D	0.71674	0.998	D	0.81914	0.995	T	0.04551	-1.0943	9	.	.	.	-33.5698	17.8857	0.88854	0.0:1.0:0.0:0.0	.	1001	Q2M1K9	ZN423_HUMAN	K	1001;884	ENSP00000262383:E1001K;ENSP00000442321:E884K	.	E	-	1	0	ZNF423	48227563	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.089000	0.71384	2.234000	0.73211	0.561000	0.74099	GAG		0.592	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		6	11	0	0	0	0	6	11				
CDH8	1006	broad.mit.edu	37	16	61687979	61687979	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:61687979G>T	ENST00000577390.1	-	12	2887	c.1933C>A	c.(1933-1935)Cgg>Agg	p.R645R	CDH8_ENST00000299345.6_Silent_p.R645R|CDH8_ENST00000577730.1_Silent_p.R645R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	645					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTATGCCGCCGTAGAGTTACA	0.383																																						uc002eog.1		NA																	0				ovary(6)|skin(2)|breast(1)	9						c.(1933-1935)CGG>AGG		cadherin 8, type 2 preproprotein							60.0	60.0	60.0					16																	61687979		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687979G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1933C>A	16.37:g.61687979G>T							p.R645R	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2185	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	645			Cytoplasmic (Potential).		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1933C>A	CCDS10802.1																																																																																				0.383	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		13	53	1	0	3.04e-14	3.5e-14	13	53				
CHST4	10164	broad.mit.edu	37	16	71571468	71571468	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:71571468G>T	ENST00000338482.5	+	3	1231	c.888G>T	c.(886-888)ttG>ttT	p.L296F	RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.L296F|CHST4_ENST00000572450.1_Missense_Mutation_p.L296F|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	296					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TCGTGGGATTGGAATTCTTGC	0.567											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fan.2		NA																	0					0						c.(886-888)TTG>TTT		carbohydrate (N-acetylglucosamine 6-O)							99.0	83.0	88.0					16																	71571468		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571468G>T	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.888G>T	16.37:g.71571468G>T	ENSP00000341206:p.Leu296Phe		OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1131	CHST4_uc002fao.2_Missense_Mutation_p.L296F	p.L296F	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			2	1069	+			296			Lumenal (Potential).		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.888G>T	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455558	0.43634	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.83755	-1.76;-1.76	6.02	3.84	0.44239	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000003	D	0.91112	0.7202	M	0.93420	3.415	0.44976	D	0.997996	D	0.89917	1.0	D	0.97110	1.0	D	0.90339	0.4358	10	0.66056	D	0.02	-8.0284	4.7165	0.12898	0.1649:0.2007:0.6344:0.0	.	296	Q8NCG5	CHST4_HUMAN	F	296	ENSP00000341206:L296F;ENSP00000441204:L296F	ENSP00000341206:L296F	L	+	3	2	CHST4	70128969	1.000000	0.71417	0.988000	0.46212	0.135000	0.20990	1.648000	0.37271	2.865000	0.98341	0.655000	0.94253	TTG		0.567	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		7	36	1	0	0.000274275	0.000291708	7	36				
KCTD11	147040	broad.mit.edu	37	17	7256830	7256830	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:7256830T>G	ENST00000333751.3	+	1	1623	c.569T>G	c.(568-570)gTg>gGg	p.V190G	TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000389982.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	190					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CGGCGGGAGGTGGTGGGCACC	0.692																																						uc002gge.3		NA																	0					0						c.(568-570)GTG>GGG		potassium channel tetramerisation domain							15.0	18.0	17.0					17																	7256830		2172	4261	6433	SO:0001583	missense	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256830T>G	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.569T>G	17.37:g.7256830T>G	ENSP00000328352:p.Val190Gly					TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	p.V190G	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN			1	1623	+		Prostate(122;0.157)	190					B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	37	c.569T>G	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.975776	0.74360	.	.	ENSG00000213859	ENST00000333751	T	0.74106	-0.81	4.79	4.79	0.61399	.	0.145913	0.27922	U	0.017316	T	0.68997	0.3062	N	0.19112	0.55	0.58432	D	0.999993	D	0.65815	0.995	P	0.53185	0.72	T	0.73263	-0.4038	10	0.87932	D	0	.	10.6293	0.45527	0.0:0.0:0.0:1.0	.	190	Q693B1	KCD11_HUMAN	G	190	ENSP00000328352:V190G	ENSP00000328352:V190G	V	+	2	0	KCTD11	7197554	0.989000	0.36119	0.997000	0.53966	0.954000	0.61252	2.159000	0.42339	2.028000	0.59812	0.379000	0.24179	GTG		0.692	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		6	25	0	0	0	0	6	25				
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM971506	TP53	M	rs121913344	c.(916-918)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577022G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1110	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	34	0	0	0	0	26	34				
MYH1	4619	broad.mit.edu	37	17	10412811	10412811	+	Silent	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:10412811G>C	ENST00000226207.5	-	15	1672	c.1578C>G	c.(1576-1578)ctC>ctG	p.L526L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	526	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTTCTCGATGAGCTCGATGC	0.443																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1576-1578)CTC>CTG		myosin, heavy chain 1, skeletal muscle, adult							176.0	146.0	156.0					17																	10412811		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10412811G>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1578C>G	17.37:g.10412811G>C						uc002gml.1_Intron	p.L526L	NM_005963	NP_005954	P12882	MYH1_HUMAN			15	1672	-			526			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.1578C>G	CCDS11155.1																																																																																				0.443	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		32	29	0	0	0	0	32	29				
ADPRM	56985	broad.mit.edu	37	17	10608831	10608831	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:10608831G>A	ENST00000379774.4	+	2	679	c.588G>A	c.(586-588)ctG>ctA	p.L196L	ADPRM_ENST00000609540.1_Silent_p.L196L	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	196							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)	p.L196L(1)|p.N197fs*1(1)									ATACGGAACTGAATAGTCCTC	0.383																																						uc002gmt.2		NA																	2	Deletion - Frameshift(1)|Substitution - coding silent(1)		lung(1)|kidney(1)		0						c.(586-588)CTG>CTA		ADP-ribose/CDP-alcohol pyrophosphatase							79.0	78.0	78.0					17																	10608831		2203	4300	6503	SO:0001819	synonymous_variant	56985						ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding	g.chr17:10608831G>A	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.588G>A	17.37:g.10608831G>A						C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Silent_p.L196L	p.L196L	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN			2	663	+			196					A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Silent	SNP	ENST00000379774.4	37	c.588G>A	CCDS11159.2																																																																																				0.383	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		20	27	0	0	0	0	20	27				
SLFN5	162394	broad.mit.edu	37	17	33592764	33592764	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:33592764G>A	ENST00000299977.4	+	5	2681	c.2533G>A	c.(2533-2535)Gtc>Atc	p.V845I	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	845					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTTGGACAGTGTCTGTCGATT	0.488																																						uc002hjf.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2533-2535)GTC>ATC		schlafen family member 5							87.0	79.0	82.0					17																	33592764		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33592764G>A	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2533G>A	17.37:g.33592764G>A	ENSP00000299977:p.Val845Ile					SLFN5_uc010wcg.1_3'UTR	p.V845I	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	5	2650	+		Ovarian(249;0.17)	845					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.2533G>A	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.460967	0.01062	.	.	ENSG00000166750	ENST00000299977	T	0.80738	-1.41	3.28	-4.04	0.04010	.	0.769546	0.10609	N	0.654655	T	0.51702	0.1690	N	0.11131	0.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49370	-0.8947	10	0.02654	T	1	.	5.0154	0.14333	0.5487:0.1683:0.283:0.0	.	845	Q08AF3	SLFN5_HUMAN	I	845	ENSP00000299977:V845I	ENSP00000299977:V845I	V	+	1	0	SLFN5	30616877	0.003000	0.15002	0.001000	0.08648	0.047000	0.14425	-0.256000	0.08757	-0.769000	0.04620	-1.105000	0.02106	GTC		0.488	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		6	41	0	0	0	0	6	41				
JUP	3728	broad.mit.edu	37	17	39914709	39914709	+	Missense_Mutation	SNP	C	C	T	rs397517298		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:39914709C>T	ENST00000393931.3	-	10	1833	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	JUP_ENST00000310706.5_Missense_Mutation_p.R572Q|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R572Q	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	572					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CATGGGGTCCCGGGCGAGGAT	0.627																																					Colon(16;42 520 6044 17852 28530)	uc002hxq.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(1714-1716)CGG>CAG		junction plakoglobin							82.0	63.0	70.0					17																	39914709		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39914709C>T	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1715G>A	17.37:g.39914709C>T	ENSP00000377508:p.Arg572Gln					JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.R572Q|JUP_uc002hxs.2_Missense_Mutation_p.R572Q	p.R572Q	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	10	1992	-		Breast(137;0.000162)	572					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1715G>A	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	C	33	5.268850	0.95429	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.64618	-0.11;-0.11;-0.11	5.41	4.42	0.53409	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.83549	0.0100	10	0.72032	D	0.01	-46.6062	15.2601	0.73615	0.0:0.8592:0.1407:0.0	.	572	P14923	PLAK_HUMAN	Q	572	ENSP00000377507:R572Q;ENSP00000311113:R572Q;ENSP00000377508:R572Q	ENSP00000311113:R572Q	R	-	2	0	JUP	37168235	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.546000	0.82137	1.485000	0.48380	0.561000	0.74099	CGG		0.627	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			6	41	0	0	0	0	6	41				
BRCA1	672	broad.mit.edu	37	17	41276072	41276072	+	Silent	SNP	G	G	A	rs80356827|rs80359871		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:41276072G>A	ENST00000357654.3	-	2	160	c.42C>T	c.(40-42)gtC>gtT	p.V14V	BRCA1_ENST00000346315.3_Silent_p.V14V|BRCA1_ENST00000354071.3_Silent_p.V14V|BRCA1_ENST00000352993.3_Silent_p.V14V|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000491747.2_Silent_p.V14V|BRCA1_ENST00000471181.2_Silent_p.V14V|BRCA1_ENST00000591534.1_Intron|NBR2_ENST00000460115.1_RNA|BRCA1_ENST00000468300.1_Silent_p.V14V|BRCA1_ENST00000351666.3_Silent_p.V14V|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_5'UTR	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	14					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAGCATTAATGACATTTTGTA	0.318			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(40-42)GTC>GTT	Homologous_recombination	breast cancer 1, early onset isoform 1							111.0	97.0	102.0					17																	41276072		2202	4299	6501	SO:0001819	synonymous_variant	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41276072G>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.42C>T	17.37:g.41276072G>A		TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|NBR2_uc002idf.2_5'Flank|NBR2_uc010czb.1_5'Flank|NBR2_uc002idg.2_5'Flank|NBR2_uc002idh.2_5'Flank|BRCA1_uc010whl.1_Silent_p.V14V|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_5'UTR|BRCA1_uc002icu.2_Silent_p.V14V|BRCA1_uc010cyx.2_5'UTR|BRCA1_uc002ict.2_Silent_p.V14V|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc002idc.1_Silent_p.V14V|BRCA1_uc010whr.1_5'UTR|BRCA1_uc002idd.2_Silent_p.V14V|BRCA1_uc010cyy.1_Silent_p.V14V|BRCA1_uc010whs.1_Silent_p.V14V|BRCA1_uc010cyz.2_5'UTR|BRCA1_uc010cza.2_Silent_p.V14V|BRCA1_uc010wht.1_Intron	p.V14V	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	2	274	-		Breast(137;0.000717)	14					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	c.42C>T	CCDS11453.1																																																																																				0.318	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		9	35	0	0	0	0	9	35				
ITGA2B	3674	broad.mit.edu	37	17	42466667	42466667	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:42466667C>G	ENST00000262407.5	-	1	206	c.175G>C	c.(175-177)Gac>Cac	p.D59H	ITGA2B_ENST00000353281.4_Missense_Mutation_p.D59H	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	59					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CCATGGCTGTCCTTGTGGAAG	0.587																																						uc002igt.1		NA																	0				ovary(2)|lung(1)	3						c.(175-177)GAC>CAC		integrin alpha 2b preproprotein	Tirofiban(DB00775)						107.0	109.0	108.0					17																	42466667		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42466667C>G		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.175G>C	17.37:g.42466667C>G	ENSP00000262407:p.Asp59His						p.D59H	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	1	207	-		Prostate(33;0.0181)	59			Extracellular (Potential).|FG-GAP 1.		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.175G>C	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457200	0.63401	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.77229	-1.08;-1.08	5.49	4.53	0.55603	.	0.216461	0.22834	U	0.055068	T	0.76219	0.3957	L	0.58925	1.835	0.80722	D	1	D	0.57257	0.979	P	0.46659	0.523	T	0.77568	-0.2539	10	0.62326	D	0.03	.	10.2958	0.43623	0.0:0.9088:0.0:0.0912	.	59	P08514	ITA2B_HUMAN	H	59	ENSP00000262407:D59H;ENSP00000340536:D59H	ENSP00000262407:D59H	D	-	1	0	ITGA2B	39822193	0.991000	0.36638	1.000000	0.80357	0.974000	0.67602	1.053000	0.30442	1.333000	0.45449	0.491000	0.48974	GAC		0.587	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			21	152	0	0	0	0	21	152				
KAT7	11143	broad.mit.edu	37	17	47895239	47895239	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:47895239G>A	ENST00000259021.4	+	9	1301	c.1021G>A	c.(1021-1023)Gct>Act	p.A341T	KAT7_ENST00000509773.1_Missense_Mutation_p.A231T|KAT7_ENST00000503935.2_Missense_Mutation_p.A185T|KAT7_ENST00000510819.1_Missense_Mutation_p.A172T|KAT7_ENST00000454930.2_Missense_Mutation_p.A202T|KAT7_ENST00000435742.2_Missense_Mutation_p.A155T|KAT7_ENST00000513980.1_Intron|KAT7_ENST00000424009.2_Missense_Mutation_p.A311T	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	341	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TAAAACAATTGCTTTTGGCCG	0.393																																						uc002ipm.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(1021-1023)GCT>ACT		MYST histone acetyltransferase 2							85.0	78.0	80.0					17																	47895239		2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47895239G>A	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1021G>A	17.37:g.47895239G>A	ENSP00000259021:p.Ala341Thr					MYST2_uc002ipl.1_Missense_Mutation_p.A311T|MYST2_uc010wma.1_Missense_Mutation_p.A202T|MYST2_uc010wmb.1_Missense_Mutation_p.A231T|MYST2_uc010wmc.1_Missense_Mutation_p.A172T|MYST2_uc010wmd.1_Missense_Mutation_p.A185T|MYST2_uc010wme.1_Missense_Mutation_p.A155T|MYST2_uc010wmf.1_Missense_Mutation_p.A6T|MYST2_uc010wmg.1_Intron	p.A341T	NM_007067	NP_008998	O95251	MYST2_HUMAN			9	1147	+			341					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.1021G>A	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780404	0.49891	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	4.98	4.98	0.66077	.	0.262357	0.39274	N	0.001415	T	0.20047	0.0482	N	0.01576	-0.805	0.34791	D	0.735771	B;B;B;B;B;B	0.15141	0.003;0.003;0.01;0.012;0.007;0.004	B;B;B;B;B;B	0.14578	0.003;0.011;0.006;0.009;0.005;0.006	T	0.25641	-1.0126	9	0.19147	T	0.46	-13.1453	11.3913	0.49815	0.0842:0.0:0.9158:0.0	.	304;172;231;202;341;311	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	T	341;202;231;172;311;185;155	.	ENSP00000259021:A341T	A	+	1	0	KAT7	45250238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.878000	0.48515	2.311000	0.77944	0.563000	0.77884	GCT		0.393	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		7	34	0	0	0	0	7	34				
MTMR4	9110	broad.mit.edu	37	17	56581705	56581705	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:56581705T>C	ENST00000323456.5	-	13	1568	c.1444A>G	c.(1444-1446)Aag>Gag	p.K482E	MTMR4_ENST00000579925.1_Missense_Mutation_p.K482E	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	482	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGAACTGCTTAAGCAACTGA	0.517																																						uc002iwj.2		NA																	0				skin(1)	1						c.(1444-1446)AAG>GAG		myotubularin related protein 4							88.0	88.0	88.0					17																	56581705		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56581705T>C	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1444A>G	17.37:g.56581705T>C	ENSP00000325285:p.Lys482Glu						p.K482E	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			13	1554	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		482			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.1444A>G	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.078354	0.55753	.	.	ENSG00000108389	ENST00000323456	D	0.92545	-3.06	5.1	5.1	0.69264	Myotubularin phosphatase domain (1);	0.249150	0.41194	D	0.000921	D	0.86414	0.5927	L	0.31065	0.9	0.42447	D	0.992736	P	0.45428	0.858	B	0.40602	0.334	D	0.87690	0.2553	10	0.72032	D	0.01	.	10.3954	0.44198	0.0:0.0:0.1639:0.8361	.	482	Q9NYA4	MTMR4_HUMAN	E	482	ENSP00000325285:K482E	ENSP00000325285:K482E	K	-	1	0	MTMR4	53936704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.670000	0.68088	2.141000	0.66446	0.383000	0.25322	AAG		0.517	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		9	70	0	0	0	0	9	70				
FDXR	2232	broad.mit.edu	37	17	72860034	72860034	+	Silent	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:72860034C>A	ENST00000293195.5	-	10	1236	c.1158G>T	c.(1156-1158)cgG>cgT	p.R386R	FDXR_ENST00000442102.2_Silent_p.R429R|FDXR_ENST00000455107.2_Missense_Mutation_p.G369V|FDXR_ENST00000544854.1_Silent_p.R334R|FDXR_ENST00000413947.2_Silent_p.R417R|FDXR_ENST00000420580.2_Silent_p.R346R|FDXR_ENST00000581530.1_Silent_p.R392R|FDXR_ENST00000582944.1_Silent_p.R378R|FDXR_ENST00000583917.1_Silent_p.R358R|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000581969.1_5'Flank	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	386					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CATCCATAACCCGGCCCTCCA	0.587																																						uc002jly.2		NA																	0					0						c.(1156-1158)CGG>CGT		ferredoxin reductase isoform 1 precursor							104.0	100.0	101.0					17																	72860034		2203	4300	6503	SO:0001819	synonymous_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860034C>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1158G>T	17.37:g.72860034C>A						FDXR_uc010wri.1_Silent_p.R334R|FDXR_uc010wrj.1_Silent_p.R384R|FDXR_uc002jlw.2_Silent_p.R143R|FDXR_uc002jlx.2_Silent_p.R392R|FDXR_uc002jmc.2_Silent_p.R358R|FDXR_uc010wrk.1_Silent_p.R417R|FDXR_uc010wrl.1_Silent_p.R429R|FDXR_uc002jma.2_Silent_p.R387R|FDXR_uc010wrm.1_Silent_p.R346R|FDXR_uc002jlz.2_Silent_p.R378R|FDXR_uc002jmb.2_Intron	p.R386R	NM_024417	NP_077728	P22570	ADRO_HUMAN			10	1245	-	all_lung(278;0.172)|Lung NSC(278;0.207)		386					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Silent	SNP	ENST00000293195.5	37	c.1158G>T	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999329	0.35226	.	.	ENSG00000161513	ENST00000455107	T	0.18657	2.2	4.29	1.65	0.23941	.	.	.	.	.	T	0.25121	0.0610	.	.	.	0.42055	D	0.991135	.	.	.	.	.	.	T	0.17048	-1.0382	6	0.87932	D	0	-22.0208	3.2718	0.06884	0.2089:0.5024:0.0:0.2887	.	.	.	.	V	369	ENSP00000390875:G369V	ENSP00000390875:G369V	G	-	2	0	FDXR	70371629	0.994000	0.37717	1.000000	0.80357	0.987000	0.75469	0.199000	0.17237	1.954000	0.56735	0.561000	0.74099	GGG		0.587	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		53	136	1	0	1.96e-22	2.28e-22	53	136				
OTOP2	92736	broad.mit.edu	37	17	72923807	72923807	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:72923807C>A	ENST00000580223.1	+	4	587	c.557C>A	c.(556-558)gCg>gAg	p.A186E	OTOP2_ENST00000331427.4_Missense_Mutation_p.A186E			Q7RTS6	OTOP2_HUMAN	otopetrin 2	186						integral component of membrane (GO:0016021)		p.A186V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTGGATGGCGGCCGTGGTG	0.577																																						uc010wrp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(556-558)GCG>GAG		otopetrin 2							87.0	69.0	75.0					17																	72923807		2203	4300	6503	SO:0001583	missense	92736					integral to membrane		g.chr17:72923807C>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.557C>A	17.37:g.72923807C>A	ENSP00000463837:p.Ala186Glu					OTOP2_uc002jmf.1_3'UTR	p.A186E	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			6	646	+	all_lung(278;0.172)|Lung NSC(278;0.207)		186						Missense_Mutation	SNP	ENST00000580223.1	37	c.557C>A	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001263	0.54254	.	.	ENSG00000183034	ENST00000331427	T	0.21191	2.02	5.1	5.1	0.69264	.	0.417107	0.28268	N	0.015978	T	0.37019	0.0988	L	0.46157	1.445	0.44862	D	0.997875	D	0.59357	0.985	P	0.60236	0.871	T	0.01298	-1.1392	10	0.30854	T	0.27	-9.1898	18.7118	0.91659	0.0:1.0:0.0:0.0	.	186	Q7RTS6	OTOP2_HUMAN	E	186	ENSP00000332528:A186E	ENSP00000332528:A186E	A	+	2	0	OTOP2	70435402	0.995000	0.38212	0.958000	0.39756	0.109000	0.19521	3.237000	0.51344	2.655000	0.90218	0.462000	0.41574	GCG		0.577	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		10	31	1	0	1.59e-06	1.75e-06	10	31				
UBE2O	63893	broad.mit.edu	37	17	74392380	74392380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:74392380C>A	ENST00000319380.7	-	14	2702	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	880					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGCACTGCTTCCATCTTCTCC	0.567																																						uc002jrm.3		NA																	0				breast(2)|skin(2)|lung(1)	5						c.(2638-2640)GAA>TAA		ubiquitin-conjugating enzyme E2O							167.0	169.0	168.0					17																	74392380		2203	4300	6503	SO:0001587	stop_gained	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392380C>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2638G>T	17.37:g.74392380C>A	ENSP00000323687:p.Glu880*					UBE2O_uc002jrn.3_Nonsense_Mutation_p.E880*|UBE2O_uc002jrl.3_Nonsense_Mutation_p.E484*	p.E880*	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			14	2703	-			880			Potential.		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Nonsense_Mutation	SNP	ENST00000319380.7	37	c.2638G>T	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	37	6.348671	0.97494	.	.	ENSG00000175931	ENST00000319380	.	.	.	5.03	5.03	0.67393	.	0.134406	0.48767	D	0.000175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-32.2829	18.3805	0.90449	0.0:1.0:0.0:0.0	.	.	.	.	X	880	.	ENSP00000323687:E880X	E	-	1	0	UBE2O	71903975	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	7.570000	0.82390	2.325000	0.78763	0.563000	0.77884	GAA		0.567	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		59	136	1	0	4.96e-44	5.86e-44	59	136				
ZNF521	25925	broad.mit.edu	37	18	22804524	22804524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr18:22804524G>A	ENST00000361524.3	-	4	3506	c.3358C>T	c.(3358-3360)Cag>Tag	p.Q1120*	ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Q1120*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Q900*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1120					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCTCATTCTGGCCCAAGCCT	0.552			T	PAX5	ALL																																	uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(3358-3360)CAG>TAG		zinc finger protein 521							118.0	105.0	109.0					18																	22804524		2203	4300	6503	SO:0001587	stop_gained	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804524G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3358C>T	18.37:g.22804524G>A	ENSP00000354794:p.Gln1120*					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.Q1120*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.Q900*	p.Q1120*	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	3605	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1120					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Nonsense_Mutation	SNP	ENST00000361524.3	37	c.3358C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	43	10.359136	0.99390	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	.	.	.	5.98	5.98	0.97165	.	0.137716	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-9.6519	13.6254	0.62161	0.0702:0.0:0.9297:0.0	.	.	.	.	X	1120;1154;1120	.	ENSP00000354794:Q1120X	Q	-	1	0	ZNF521	21058522	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.470000	0.97683	2.835000	0.97688	0.650000	0.86243	CAG		0.552	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		4	26	0	0	0	0	4	26				
LMNB2	84823	broad.mit.edu	37	19	2444428	2444428	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:2444428C>G	ENST00000582871.1	-	2	401	c.315G>C	c.(313-315)agG>agC	p.R105S	LMNB2_ENST00000325327.3_Missense_Mutation_p.R125S	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	105	Coil 1B.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAACTCTGCCCTCAGCTTCC	0.652																																						uc002lvy.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(313-315)AGG>AGC		lamin B2							183.0	112.0	136.0					19																	2444428		2203	4300	6503	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2444428C>G	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.315G>C	19.37:g.2444428C>G	ENSP00000462730:p.Arg105Ser					LMNB2_uc002lwa.1_Missense_Mutation_p.R125S	p.R105S	NM_032737	NP_116126	Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	402	-		Hepatocellular(1079;0.137)	105			Rod.|Coil 1B.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.315G>C		.	.	.	.	.	.	.	.	.	.	C	9.339	1.062410	0.19987	.	.	ENSG00000176619	ENST00000325327	D	0.88741	-2.42	4.04	-7.17	0.01511	Filament (1);	0.364441	0.28307	N	0.015830	T	0.79678	0.4487	L	0.51914	1.62	0.09310	N	1	B	0.14012	0.009	B	0.24269	0.052	T	0.63350	-0.6657	10	0.30078	T	0.28	.	6.6013	0.22703	0.0:0.2519:0.2276:0.5205	.	105	Q03252	LMNB2_HUMAN	S	105	ENSP00000327054:R105S	ENSP00000327054:R105S	R	-	3	2	LMNB2	2395428	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-2.430000	0.01024	-1.343000	0.02219	-0.258000	0.10820	AGG		0.652	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		5	21	0	0	0	0	5	21				
ZNRF4	148066	broad.mit.edu	37	19	5455848	5455848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:5455848C>G	ENST00000222033.4	+	1	423	c.346C>G	c.(346-348)Ctg>Gtg	p.L116V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	116						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTTTGCGGATCTGCCGGCGCT	0.672																																						uc002mca.3		NA																	0				large_intestine(2)	2						c.(346-348)CTG>GTG		zinc and ring finger 4 precursor							50.0	58.0	56.0					19																	5455848		2108	4207	6315	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455848C>G	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.346C>G	19.37:g.5455848C>G	ENSP00000222033:p.Leu116Val						p.L116V	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	423	+			116			Extracellular (Potential).		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.346C>G	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	7.627	0.678044	0.14841	.	.	ENSG00000105428	ENST00000222033	T	0.05199	3.48	4.55	-0.521	0.11931	.	0.302531	0.26442	U	0.024351	T	0.06005	0.0156	M	0.75085	2.285	0.09310	N	0.999992	P	0.43024	0.798	B	0.36289	0.221	T	0.27673	-1.0067	10	0.34782	T	0.22	.	3.1589	0.06514	0.2741:0.4767:0.1512:0.098	.	116	Q8WWF5	ZNRF4_HUMAN	V	116	ENSP00000222033:L116V	ENSP00000222033:L116V	L	+	1	2	ZNRF4	5406848	0.000000	0.05858	0.203000	0.23512	0.036000	0.12997	-2.761000	0.00786	0.348000	0.23949	0.491000	0.48974	CTG		0.672	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		21	70	0	0	0	0	21	70				
FCER2	2208	broad.mit.edu	37	19	7754154	7754154	+	Silent	SNP	C	C	A	rs368137472		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:7754154C>A	ENST00000346664.5	-	11	1103	c.891G>T	c.(889-891)gcG>gcT	p.A297A	FCER2_ENST00000360067.4_Silent_p.A296A|FCER2_ENST00000597921.1_Silent_p.A297A	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	297					Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCATGGACTCCGCGGAACCTT	0.677																																						uc002mhn.2		NA																	0					0						c.(889-891)GCG>GCT		Fc fragment of IgE, low affinity II, receptor							41.0	36.0	38.0					19																	7754154		2202	4300	6502	SO:0001819	synonymous_variant	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7754154C>A	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"""C-type lectin domain containing"", ""CD molecules"""	3612	protein-coding gene	gene with protein product		151445	"""Fc fragment of IgE, low affinity II, receptor for (CD23A)"""	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.891G>T	19.37:g.7754154C>A						FCER2_uc010xjs.1_Silent_p.A219A|FCER2_uc010xjt.1_Silent_p.A219A|FCER2_uc002mhm.2_Silent_p.A297A	p.A297A	NM_002002	NP_001993	P06734	FCER2_HUMAN			11	1075	-			297			Extracellular (Potential).			Silent	SNP	ENST00000346664.5	37	c.891G>T	CCDS12184.1																																																																																				0.677	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002		7	21	1	0	0.00198382	0.00207907	7	21				
MUC16	94025	broad.mit.edu	37	19	9006359	9006359	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:9006359C>G	ENST00000397910.4	-	45	39862	c.39659G>C	c.(39658-39660)aGa>aCa	p.R13220T	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13222	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						CAAGGTCAGTCTGCAGCCAGA	0.512																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(39658-39660)AGA>ACA		mucin 16							104.0	84.0	91.0					19																	9006359		1996	4174	6170	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006359C>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.39659G>C	19.37:g.9006359C>G	ENSP00000381008:p.Arg13220Thr					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R37T|MUC16_uc010xki.1_Intron	p.R13220T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			45	39863	-			13222			SEA 8.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39659G>C	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.90|12.90	2.077402|2.077402	0.36662|0.36662	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000441155	.|T	.|0.29917	.|1.55	2.73|2.73	0.55|0.55	0.17219|0.17219	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.45135|0.45135	0.1327|0.1327	M|M	0.82323|0.82323	2.585|2.585	.|.	.|.	.|.	.|P;P	.|0.52577	.|0.954;0.814	.|P;P	.|0.55345	.|0.741;0.774	T|T	0.53885|0.53885	-0.8375|-0.8375	4|8	.|0.87932	.|D	.|0	-0.626|-0.626	4.8279|4.8279	0.13425|0.13425	0.0:0.6992:0.0:0.3008|0.0:0.6992:0.0:0.3008	.|.	.|20865;13220	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	H|T	60|13220;351	.|ENSP00000381008:R13220T	.|ENSP00000381008:R13220T	D|R	-|-	1|2	0|0	MUC16|MUC16	8867359|8867359	0.004000|0.004000	0.15560|0.15560	0.533000|0.533000	0.28001|0.28001	0.015000|0.015000	0.08874|0.08874	-0.439000|-0.439000	0.06897|0.06897	0.213000|0.213000	0.20722|0.20722	0.305000|0.305000	0.20034|0.20034	GAC|AGA		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	56	0	0	0	0	16	56				
MUC16	94025	broad.mit.edu	37	19	9065156	9065156	+	Silent	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:9065156T>C	ENST00000397910.4	-	3	22493	c.22290A>G	c.(22288-22290)caA>caG	p.Q7430Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7432	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						TAGTCTTCACTTGGCCTGGTG	0.488																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(22288-22290)CAA>CAG		mucin 16							113.0	106.0	109.0					19																	9065156		2007	4174	6181	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065156T>C	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.22290A>G	19.37:g.9065156T>C							p.Q7430Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22494	-			7432			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.22290A>G	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	31	0	0	0	0	13	31				
ZNF627	199692	broad.mit.edu	37	19	11727528	11727528	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:11727528C>T	ENST00000361113.5	+	4	418	c.210C>T	c.(208-210)ctC>ctT	p.L70L	ZNF627_ENST00000588174.1_Silent_p.L67L	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	70	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)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CAGAGAGACTCTGTGAAAGTA	0.328																																					Melanoma(112;173 1614 10731 17751 23322)	uc002msk.2		NA																	0				skin(1)	1						c.(208-210)CTC>CTT		zinc finger protein 627							56.0	53.0	54.0					19																	11727528		1844	4108	5952	SO:0001819	synonymous_variant	199692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11727528C>T	AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.210C>T	19.37:g.11727528C>T						ZNF627_uc010dyf.2_5'UTR	p.L70L	NM_145295	NP_660338	Q7L945	ZN627_HUMAN			4	418	+			70			KRAB.		O14846|Q4KMP9|Q6NT81|Q9BRG4	Silent	SNP	ENST00000361113.5	37	c.210C>T	CCDS42502.1																																																																																				0.328	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		6	30	0	0	0	0	6	30				
PKN1	5585	broad.mit.edu	37	19	14582517	14582517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:14582517C>T	ENST00000242783.6	+	22	2915	c.2750C>T	c.(2749-2751)cCg>cTg	p.P917L	PKN1_ENST00000342216.4_Missense_Mutation_p.P923L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	917	AGC-kinase C-terminal.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ACACTGAGCCCGCCCCGCGAC	0.746																																					NSCLC(185;2539 2965 10733 52867)	uc002myp.2		NA																	0				ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(2749-2751)CCG>CTG		protein kinase N1 isoform 2							7.0	10.0	9.0					19																	14582517		2032	4138	6170	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14582517C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2750C>T	19.37:g.14582517C>T	ENSP00000242783:p.Pro917Leu					PKN1_uc002myq.2_Missense_Mutation_p.P923L|PKN1_uc002myr.2_Missense_Mutation_p.P257L	p.P917L	NM_002741	NP_002732	Q16512	PKN1_HUMAN			22	2918	+			917			AGC-kinase C-terminal.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.2750C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127073	0.56721	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.60672	0.17;0.17	3.82	2.79	0.32731	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	U	0.000002	T	0.60741	0.2292	M	0.88105	2.93	0.53688	D	0.99997	B;B	0.12013	0.004;0.005	B;B	0.11329	0.003;0.006	T	0.63129	-0.6706	10	0.87932	D	0	-1.7732	8.8477	0.35181	0.0:0.8873:0.0:0.1127	.	923;917	Q16512-2;Q16512	.;PKN1_HUMAN	L	917;923	ENSP00000242783:P917L;ENSP00000343325:P923L	ENSP00000242783:P917L	P	+	2	0	PKN1	14443517	0.959000	0.32827	0.997000	0.53966	0.648000	0.38561	2.756000	0.47549	0.829000	0.34733	0.462000	0.41574	CCG		0.746	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		3	16	0	0	0	0	3	16				
EPS15L1	58513	broad.mit.edu	37	19	16528779	16528779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:16528779C>T	ENST00000248070.6	-	11	1226	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	EPS15L1_ENST00000597937.1_Missense_Mutation_p.E363K|EPS15L1_ENST00000455140.2_Missense_Mutation_p.E363K|EPS15L1_ENST00000594975.1_Missense_Mutation_p.E363K|EPS15L1_ENST00000535753.2_Missense_Mutation_p.E363K|EPS15L1_ENST00000602009.1_Missense_Mutation_p.E209K	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	363	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GTGCCTCTCTCCGAAGGCGGG	0.592											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ndz.1		NA																	0				ovary(3)|skin(2)	5						c.(1087-1089)GAG>AAG		epidermal growth factor receptor pathway							109.0	94.0	99.0					19																	16528779		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16528779C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1087G>A	19.37:g.16528779C>T	ENSP00000248070:p.Glu363Lys		OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	711	EPS15L1_uc002ndx.2_Missense_Mutation_p.E363K|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.E253K|EPS15L1_uc010xpf.1_Missense_Mutation_p.E266K|EPS15L1_uc002nea.1_Missense_Mutation_p.E363K|EPS15L1_uc010eah.1_Missense_Mutation_p.E363K|EPS15L1_uc002neb.1_Missense_Mutation_p.E209K|EPS15L1_uc002nec.1_Missense_Mutation_p.E363K	p.E363K	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			11	1093	-			363			EH 3.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.1087G>A	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870996	0.72065	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.27890	1.64;1.64;1.64	4.45	4.45	0.53987	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30293	0.0760	N	0.11106	0.095	0.80722	D	1	P;B;P;D;B;P	0.58970	0.772;0.122;0.878;0.984;0.069;0.734	P;B;P;P;B;B	0.57679	0.532;0.11;0.582;0.825;0.158;0.302	T	0.12863	-1.0531	10	0.27785	T	0.31	.	16.2559	0.82517	0.0:1.0:0.0:0.0	.	363;363;362;363;363;363	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	K	363	ENSP00000393313:E363K;ENSP00000248070:E363K;ENSP00000440103:E363K	ENSP00000248070:E363K	E	-	1	0	EPS15L1	16389779	1.000000	0.71417	0.912000	0.35992	0.714000	0.41099	7.474000	0.81024	2.296000	0.77279	0.655000	0.94253	GAG		0.592	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		11	50	0	0	0	0	11	50				
CHERP	10523	broad.mit.edu	37	19	16640583	16640583	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:16640583C>T	ENST00000198939.6	-	8	1074	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	CHERP_ENST00000546361.2_Silent_p.Q335Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgttgctgctgctgct	0.667																																						uc002nei.1		NA																	0				ovary(2)	2						c.(1003-1005)CAG>CAA		calcium homeostasis endoplasmic reticulum							21.0	29.0	26.0					19																	16640583		2194	4294	6488	SO:0001819	synonymous_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640583C>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038G>A	19.37:g.16640583C>T						MED26_uc002nee.2_Intron	p.Q335Q	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			8	1079	-			335			Gln-rich.			Silent	SNP	ENST00000198939.6	37	c.1005G>A																																																																																					0.667	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		3	27	0	0	0	0	3	27				
ZNF208	7757	broad.mit.edu	37	19	22171649	22171649	+	Missense_Mutation	SNP	G	G	T	rs375118705		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:22171649G>T	ENST00000397126.4	-	2	214	c.66C>A	c.(64-66)gaC>gaA	p.D22E	ZNF208_ENST00000601773.1_Missense_Mutation_p.D22E|ZNF208_ENST00000599916.1_Missense_Mutation_p.D22E|ZNF208_ENST00000597040.1_5'UTR	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	22	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)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCTGTGCAGTGTCCAGGCATT	0.398																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(64-66)GAC>GAA		zinc finger protein 208							137.0	146.0	143.0					19																	22171649		2203	4299	6502	SO:0001583	missense	7757							g.chr19:22171649G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.66C>A	19.37:g.22171649G>T	ENSP00000380315:p.Asp22Glu					ZNF208_uc002nqo.1_Missense_Mutation_p.D22E|ZNF208_uc002nqq.2_RNA	p.D22E	NM_007153	NP_009084					2	215	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.66C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732197	0.48939	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.02606	4.23	1.32	-0.022	0.13949	Krueppel-associated box (4);	.	.	.	.	T	0.04815	0.0130	.	.	.	0.09310	N	1	P;B	0.52170	0.951;0.39	P;B	0.51866	0.682;0.19	T	0.37820	-0.9689	8	0.44086	T	0.13	.	4.3068	0.10951	0.2721:0.0:0.7279:0.0	.	22;22	O43345;F8WEA0	ZN208_HUMAN;.	E	22	ENSP00000380315:D22E	ENSP00000380315:D22E	D	-	3	2	ZNF208	21963489	0.004000	0.15560	0.004000	0.12327	0.936000	0.57629	0.221000	0.17680	-0.191000	0.10448	0.281000	0.19383	GAC		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		26	135	1	0	6.33e-13	7.23e-13	26	135				
ZNF681	148213	broad.mit.edu	37	19	23938239	23938239	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:23938239G>T	ENST00000402377.3	-	2	259	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGAAGACCAGGTTTCTGTAG	0.353																																						uc002nrk.3		NA																	0					0						c.(118-120)CTG>ATG		zinc finger protein 681							102.0	113.0	109.0					19																	23938239		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23938239G>T	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.118C>A	19.37:g.23938239G>T	ENSP00000384000:p.Leu40Met					ZNF681_uc002nrl.3_Intron|ZNF681_uc002nrj.3_Intron|ZNF681_uc002nrm.1_5'Flank	p.L40M	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			2	260	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	40			KRAB.		B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.118C>A	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	9.728	1.161528	0.21538	.	.	ENSG00000196172	ENST00000402377	T	0.03772	3.81	1.05	1.05	0.20165	Krueppel-associated box (4);	.	.	.	.	T	0.17704	0.0425	M	0.88310	2.945	0.80722	D	1	D	0.57257	0.979	P	0.62491	0.903	T	0.01013	-1.1481	9	0.87932	D	0	.	5.3007	0.15776	0.0:0.0:1.0:0.0	.	40	Q96N22	ZN681_HUMAN	M	40	ENSP00000384000:L40M	ENSP00000384000:L40M	L	-	1	2	ZNF681	23730079	0.003000	0.15002	0.579000	0.28588	0.581000	0.36288	-1.010000	0.03656	0.452000	0.26830	0.460000	0.39030	CTG		0.353	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		16	111	1	0	0.000175454	0.0001878	16	111				
ZNF527	84503	broad.mit.edu	37	19	37880679	37880679	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:37880679C>T	ENST00000436120.2	+	5	1835	c.1728C>T	c.(1726-1728)caC>caT	p.H576H	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAATTCACGCTGGAGAAA	0.388																																						uc010efk.1		NA																	0				ovary(2)	2						c.(1726-1728)CAC>CAT		zinc finger protein 527							45.0	49.0	48.0					19																	37880679		2166	4285	6451	SO:0001819	synonymous_variant	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880679C>T	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1728C>T	19.37:g.37880679C>T						ZNF527_uc002ogf.3_Silent_p.H544H|ZNF527_uc010xtq.1_RNA	p.H576H	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1839	+			576			C2H2-type 11.		B4DVL5	Silent	SNP	ENST00000436120.2	37	c.1728C>T	CCDS42559.1																																																																																				0.388	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		16	50	0	0	0	0	16	50				
C5AR2	27202	broad.mit.edu	37	19	47844440	47844440	+	Silent	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:47844440C>G	ENST00000595464.1	+	2	602	c.384C>G	c.(382-384)ctC>ctG	p.L128L	C5AR2_ENST00000600626.1_Silent_p.L128L|C5AR2_ENST00000257267.2_Silent_p.L128L	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	128					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										TGGCAGCTCTCAGTGCCGACC	0.682																																						uc010ela.1		NA																	0				ovary(1)	1						c.(382-384)CTC>CTG		G protein-coupled receptor 77							92.0	90.0	91.0					19																	47844440		2203	4300	6503	SO:0001819	synonymous_variant	27202				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47844440C>G	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.384C>G	19.37:g.47844440C>G						GPR77_uc002pgk.1_Silent_p.L128L	p.L128L	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)	2	602	+		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)	128			Helical; Name=3; (Potential).		B2RA09	Silent	SNP	ENST00000595464.1	37	c.384C>G	CCDS12699.1																																																																																				0.682	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		16	92	0	0	0	0	16	92				
TPRX1	284355	broad.mit.edu	37	19	48305438	48305438	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:48305438C>T	ENST00000322175.3	-	2	985	c.830G>A	c.(829-831)gGc>gAc	p.G277D	TPRX1_ENST00000535759.1_Missense_Mutation_p.G374D|TPRX1_ENST00000543508.1_Missense_Mutation_p.G267D	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	277	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TCTGCCTGGGCCTGGGATCTG	0.642																																					Esophageal Squamous(123;175 2281 3051 32395)	uc002php.1		NA																	0					0						c.(829-831)GGC>GAC		tetra-peptide repeat homeobox							22.0	22.0	22.0					19																	48305438		2201	4299	6500	SO:0001583	missense	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305438C>T		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.830G>A	19.37:g.48305438C>T	ENSP00000323455:p.Gly277Asp						p.G277D	NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	2	901	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	277			Gly-rich.		A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	c.830G>A	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	c	1.506	-0.550870	0.03996	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.91740	-1.72;-2.9	0.468	-0.657	0.11432	.	.	.	.	.	T	0.79587	0.4471	N	0.14661	0.345	0.09310	N	1	B	0.22211	0.066	B	0.12837	0.008	T	0.63980	-0.6514	8	0.12430	T	0.62	.	.	.	.	.	277	Q8N7U7	TPRX1_HUMAN	D	277;374;267	ENSP00000323455:G277D;ENSP00000438832:G374D	ENSP00000323455:G277D	G	-	2	0	TPRX1	52997250	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-2.429000	0.01025	-0.344000	0.08338	-0.339000	0.08088	GGC		0.642	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		8	8	0	0	0	0	8	8				
TSKS	60385	broad.mit.edu	37	19	50266465	50266465	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:50266465C>G	ENST00000246801.3	-	1	122	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	14					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCATGGATCTCTTTGGACTGC	0.657																																						uc002ppm.2		NA																	0				large_intestine(1)|skin(1)	2						c.(40-42)GAG>CAG		testis-specific kinase substrate							59.0	63.0	62.0					19																	50266465		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50266465C>G	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.40G>C	19.37:g.50266465C>G	ENSP00000246801:p.Glu14Gln						p.E14Q	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	1	51	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	14					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.40G>C	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891403	0.52014	.	.	ENSG00000126467	ENST00000246801	T	0.48201	0.82	4.93	4.93	0.64822	.	0.000000	0.43260	D	0.000587	T	0.56124	0.1964	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	T	0.61202	-0.7110	10	0.87932	D	0	-24.3966	15.0676	0.72008	0.0:1.0:0.0:0.0	.	14	Q9UJT2	TSKS_HUMAN	Q	14	ENSP00000246801:E14Q	ENSP00000246801:E14Q	E	-	1	0	TSKS	54958277	1.000000	0.71417	0.997000	0.53966	0.149000	0.21700	4.151000	0.58105	2.299000	0.77371	0.467000	0.42956	GAG		0.657	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		31	48	0	0	0	0	31	48				
ZNF616	90317	broad.mit.edu	37	19	52619089	52619089	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:52619089C>A	ENST00000600228.1	-	4	1589	c.1328G>T	c.(1327-1329)gGc>gTc	p.G443V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTACACCTTGCCACATTTATT	0.388																																						uc002pym.2		NA																	0					0						c.(1327-1329)GGC>GTC		zinc finger protein 616							156.0	135.0	142.0					19																	52619089		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619089C>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1328G>T	19.37:g.52619089C>A	ENSP00000471000:p.Gly443Val					ZNF616_uc002pyn.2_RNA	p.G443V	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1611	-			443			C2H2-type 10.		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1328G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846248	0.32606	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-0.137	0.13469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81307	0.4795	H	0.95539	3.685	0.39255	D	0.964118	D	0.89917	1.0	D	0.79784	0.993	T	0.80683	-0.1273	8	0.66056	D	0.02	.	8.0374	0.30502	0.0:0.7438:0.2561:0.0	.	443	Q08AN1	ZN616_HUMAN	V	443	.	ENSP00000328722:G443V	G	-	2	0	ZNF616	57310901	0.506000	0.26139	0.007000	0.13788	0.191000	0.23601	0.866000	0.27954	0.000000	0.14550	0.305000	0.20034	GGC		0.388	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		9	82	1	0	5.49e-09	6.2e-09	9	82				
ZNF610	162963	broad.mit.edu	37	19	52869650	52869650	+	Missense_Mutation	SNP	C	C	T	rs149251185		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:52869650C>T	ENST00000403906.3	+	6	1475	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V	ZNF610_ENST00000601151.1_Missense_Mutation_p.A297V|ZNF610_ENST00000321287.8_Missense_Mutation_p.A340V|ZNF610_ENST00000327920.8_Missense_Mutation_p.A340V	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGTCACACGGCGGAAAAACCT	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21768	0.0		0.0	False		,,,				2504	0.0					uc002pyx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1018-1020)GCG>GTG		zinc finger protein 610 isoform a		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	73.0	74.0	73.0		1019,1019,890,1019	0.3	0.4	19	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ZNF610	NM_001161425.1,NM_001161426.1,NM_001161427.1,NM_173530.2	64,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	340/463,340/463,297/420,340/463	52869650	1,13005	2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869650C>T	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1019C>T	19.37:g.52869650C>T	ENSP00000383922:p.Ala340Val					ZNF610_uc002pyy.3_Missense_Mutation_p.A340V|ZNF610_uc002pyz.3_Missense_Mutation_p.A297V|ZNF610_uc002pza.2_Missense_Mutation_p.A340V	p.A340V	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	6	1425	+			340					A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.1019C>T	CCDS12851.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.04	2.417904	0.42918	0.0	1.16E-4	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.01068	5.38;5.38	1.58	0.349	0.16032	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01189	0.0039	N	0.17631	0.505	0.26242	N	0.978857	D;D	0.57257	0.974;0.979	B;P	0.45794	0.36;0.493	T	0.54906	-0.8223	9	0.72032	D	0.01	.	8.2994	0.32006	0.0:0.2652:0.7348:0.0	.	297;340	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	V	340;297;340	ENSP00000383922:A340V;ENSP00000327597:A340V	ENSP00000324441:A297V	A	+	2	0	ZNF610	57561462	0.391000	0.25221	0.401000	0.26359	0.242000	0.25591	0.960000	0.29253	-0.044000	0.13491	0.313000	0.20887	GCG		0.393	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		6	54	0	0	0	0	6	54				
ZNF808	388558	broad.mit.edu	37	19	53058461	53058461	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:53058461G>A	ENST00000359798.4	+	5	2472	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	764					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AACCTTACAAGTGTAACGACT	0.443																																						uc010epq.1		NA																	0					0						c.(2290-2292)AAG>AAA		zinc finger protein 808							185.0	186.0	185.0					19																	53058461		2203	4300	6503	SO:0001819	synonymous_variant	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058461G>A	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2292G>A	19.37:g.53058461G>A						ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.K764K	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2469	+			764			C2H2-type 20.		Q68CN7	Silent	SNP	ENST00000359798.4	37	c.2292G>A	CCDS46167.1																																																																																				0.443	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		12	141	0	0	0	0	12	141				
ZNF835	90485	broad.mit.edu	37	19	57175082	57175082	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:57175082C>T	ENST00000537055.2	-	2	1716	c.1485G>A	c.(1483-1485)acG>acA	p.T495T		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGTCTGCATGCGTCCTCTGGT	0.637																																						uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(1549-1551)ACG>ACA		zinc finger protein 835							129.0	142.0	138.0					19																	57175082		2201	4300	6501	SO:0001819	synonymous_variant	90485							g.chr19:57175082C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1485G>A	19.37:g.57175082C>T						ZNF835_uc010ygn.1_Silent_p.T495T	p.T517T	NM_001005850	NP_001005850					2	1551	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.1551G>A	CCDS56105.1																																																																																				0.637	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		51	116	0	0	0	0	51	116				
MYT1L	23040	broad.mit.edu	37	2	1805525	1805525	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:1805525C>T	ENST00000399161.2	-	23	3966	c.3219G>A	c.(3217-3219)aaG>aaA	p.K1073K	MYT1L_ENST00000428368.2_Silent_p.K1071K|MYT1L_ENST00000407844.1_Silent_p.K69K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1073					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CATTTAGCTCCTTGATTTCTT	0.323																																						uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(3217-3219)AAG>AAA		myelin transcription factor 1-like							232.0	224.0	226.0					2																	1805525		1799	4076	5875	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1805525C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3219G>A	2.37:g.1805525C>T						MYT1L_uc002qxd.2_Silent_p.K1071K|MYT1L_uc010ewk.2_Silent_p.K69K	p.K1073K	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	23	4046	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1073			Potential.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.3219G>A																																																																																					0.323	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		17	75	0	0	0	0	17	75				
APOB	338	broad.mit.edu	37	2	21224689	21224689	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:21224689G>T	ENST00000233242.1	-	29	13732	c.13605C>A	c.(13603-13605)atC>atA	p.I4535I	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4535					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAACTCCGTGATGTATATCA	0.358																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(13603-13605)ATC>ATA		apolipoprotein B precursor	Atorvastatin(DB01076)						138.0	139.0	139.0					2																	21224689		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21224689G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13605C>A	2.37:g.21224689G>T							p.I4535I	NM_000384	NP_000375	P04114	APOB_HUMAN			29	13733	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4535					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.13605C>A	CCDS1703.1																																																																																				0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			46	69	1	0	5.2e-24	6.08e-24	46	69				
CENPA	1058	broad.mit.edu	37	2	27016146	27016146	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:27016146G>A	ENST00000335756.4	+	4	622	c.422G>A	c.(421-423)tGa>tAa	p.*141*	CENPA_ENST00000233505.8_Silent_p.*115*|CENPA_ENST00000475662.1_3'UTR	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	0					CENP-A containing nucleosome assembly (GO:0034080)|establishment of mitotic spindle orientation (GO:0000132)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|protein localization to chromosome, centromeric region (GO:0071459)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|condensed chromosome inner kinetochore (GO:0000939)|condensed nuclear chromosome kinetochore (GO:0000778)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTCGGCTGAGCTCCTGCA	0.557																																					Pancreas(28;769 878 30250 30578 41330)	uc002rhr.2		NA																	0					0						c.(421-423)TGA>TAA		centromere protein A isoform a							100.0	107.0	105.0					2																	27016146		2203	4300	6503	SO:0001819	synonymous_variant	1058				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding	g.chr2:27016146G>A	U14518	CCDS1729.1, CCDS42662.1	2p23.3	2013-11-05	2006-06-16		ENSG00000115163	ENSG00000115163			1851	protein-coding gene	gene with protein product	"""centromere-specific histone"", ""histone H3-like centromeric protein A"""	117139	"""centromere protein A (17kD)"", ""centromere protein A, 17kDa"""				Standard	NM_001042426		Approved	CENP-A, CenH3	uc002rhr.3	P49450	OTTHUMG00000097073	ENST00000335756.4:c.422G>A	2.37:g.27016146G>A						CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Silent_p.*115*	p.*141*	NM_001809	NP_001800	P49450	CENPA_HUMAN			4	605	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		141					D6W544|Q53T74|Q9BVW2	Silent	SNP	ENST00000335756.4	37	c.422G>A	CCDS1729.1																																																																																				0.557	CENPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214190.2	NM_001809		55	98	0	0	0	0	55	98				
XDH	7498	broad.mit.edu	37	2	31572647	31572647	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:31572647C>T	ENST00000379416.3	-	26	2922	c.2874G>A	c.(2872-2874)caG>caA	p.Q958Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	958					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCTCAAGCTTCTGGTTGAAGT	0.507																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(2872-2874)CAG>CAA		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						157.0	149.0	152.0					2																	31572647		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31572647C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2874G>A	2.37:g.31572647C>T							p.Q958Q	NM_000379	NP_000370	P47989	XDH_HUMAN			26	2953	-	Acute lymphoblastic leukemia(172;0.155)		958					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.2874G>A	CCDS1775.1																																																																																				0.507	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		12	100	0	0	0	0	12	100				
ALMS1	7840	broad.mit.edu	37	2	73678290	73678290	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:73678290G>C	ENST00000264448.6	+	8	4744	c.4633G>C	c.(4633-4635)Gag>Cag	p.E1545Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E1503Q|ALMS1_ENST00000377715.1_Missense_Mutation_p.E1545Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1545	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AATACCTGAAGAGGCTCTCAG	0.473																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(4639-4641)GAG>CAG		Alstrom syndrome 1							104.0	109.0	108.0					2																	73678290		1884	4104	5988	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73678290G>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4633G>C	2.37:g.73678290G>C	ENSP00000264448:p.Glu1545Gln					ALMS1_uc002sjf.1_Missense_Mutation_p.E1503Q|ALMS1_uc002sjg.2_Missense_Mutation_p.E933Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E933Q	p.E1547Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	4750	+			1545			22.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.4639G>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363096	0.41902	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.18502	3.09;3.09;2.21	3.54	0.526	0.17078	.	.	.	.	.	T	0.26521	0.0648	L	0.43152	1.355	0.09310	N	1	B;D;D	0.89917	0.093;0.995;1.0	B;P;D	0.71870	0.031;0.889;0.975	T	0.10520	-1.0626	9	0.45353	T	0.12	.	5.4561	0.16592	0.1171:0.401:0.4819:0.0	.	1545;1503;1545	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Q	1503;1545;1545	ENSP00000386627:E1503Q;ENSP00000264448:E1545Q;ENSP00000366944:E1545Q	ENSP00000264448:E1545Q	E	+	1	0	ALMS1	73531798	0.000000	0.05858	0.005000	0.12908	0.330000	0.28571	0.083000	0.14871	0.084000	0.17077	0.491000	0.48974	GAG		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		24	112	0	0	0	0	24	112				
DCTN1	1639	broad.mit.edu	37	2	74593384	74593384	+	Missense_Mutation	SNP	C	C	G	rs375079576		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:74593384C>G	ENST00000361874.3	-	23	3064	c.2747G>C	c.(2746-2748)cGg>cCg	p.R916P	DCTN1_ENST00000407639.2_Missense_Mutation_p.R782P|DCTN1_ENST00000409240.1_Missense_Mutation_p.R879P|DCTN1_ENST00000409567.3_Missense_Mutation_p.R896P|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Missense_Mutation_p.R909P|DCTN1_ENST00000409868.1_Missense_Mutation_p.R899P|DCTN1_ENST00000409438.1_Missense_Mutation_p.R782P	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	916					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCTGGGGGGCCGCTCTGCATC	0.562																																						uc002skx.2		NA																	0				ovary(3)|skin(2)	5						c.(2746-2748)CGG>CCG		dynactin 1 isoform 1							89.0	93.0	92.0					2																	74593384		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593384C>G		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2747G>C	2.37:g.74593384C>G	ENSP00000354791:p.Arg916Pro					SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.R782P|DCTN1_uc002sku.2_Missense_Mutation_p.R782P|DCTN1_uc002skw.1_Missense_Mutation_p.R892P|DCTN1_uc010ffd.2_Missense_Mutation_p.R896P|DCTN1_uc002sky.2_Missense_Mutation_p.R879P	p.R916P	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			23	3058	-			916					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2747G>C	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381272	0.24944	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.17	5.17	0.71159	.	0.000000	0.39274	N	0.001414	T	0.62282	0.2415	N	0.19112	0.55	0.49051	D	0.999746	B;B;P;B;B;P	0.49447	0.0;0.002;0.876;0.0;0.0;0.924	B;B;B;B;B;B	0.43508	0.001;0.004;0.242;0.002;0.002;0.422	T	0.59590	-0.7426	10	0.25751	T	0.34	-11.3271	7.6792	0.28502	0.0:0.8284:0.0:0.1716	.	896;879;916;909;782;782	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	P	916;909;899;782;782;879;899;896	ENSP00000354791:R916P;ENSP00000377571:R909P;ENSP00000384844:R782P;ENSP00000387270:R782P;ENSP00000386406:R879P;ENSP00000387327:R899P;ENSP00000386843:R896P	ENSP00000354791:R916P	R	-	2	0	DCTN1	74446892	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.725000	0.47294	2.681000	0.91329	0.561000	0.74099	CGG		0.562	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		30	91	0	0	0	0	30	91				
WDR54	84058	broad.mit.edu	37	2	74652067	74652067	+	Silent	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:74652067A>T	ENST00000348227.4	+	7	688	c.600A>T	c.(598-600)ccA>ccT	p.P200P	WDR54_ENST00000409791.1_Silent_p.P148P|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	200										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GGTCAGGGCCAGAATTCACAT	0.522																																						uc002slb.2		NA																	0					0						c.(598-600)CCA>CCT		WD repeat domain 54							204.0	167.0	179.0					2																	74652067		2203	4300	6503	SO:0001819	synonymous_variant	84058							g.chr2:74652067A>T	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.600A>T	2.37:g.74652067A>T							p.P200P	NM_032118	NP_115494	Q9H977	WDR54_HUMAN			7	660	+			200			WD 2.		D6W5I3|Q53H85|Q86V45	Silent	SNP	ENST00000348227.4	37	c.600A>T	CCDS1940.1																																																																																				0.522	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		29	103	0	0	0	0	29	103				
REG3A	5068	broad.mit.edu	37	2	79385808	79385808	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:79385808A>T	ENST00000409839.3	-	3	200	c.164T>A	c.(163-165)tTt>tAt	p.F55Y	REG3A_ENST00000305165.2_Missense_Mutation_p.F55Y|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Missense_Mutation_p.F55Y	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	55	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TGGTGACAAAAACAAGGCATA	0.552																																						uc002sod.1		NA																	0				skin(1)	1						c.(163-165)TTT>TAT		pancreatitis-associated protein precursor							122.0	111.0	115.0					2																	79385808		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385808A>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.164T>A	2.37:g.79385808A>T	ENSP00000386630:p.Phe55Tyr					REG3A_uc002soe.1_Missense_Mutation_p.F55Y|REG3A_uc002sof.1_Missense_Mutation_p.F55Y	p.F55Y	NM_138938	NP_620355	Q06141	REG3A_HUMAN			2	419	-			55			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.164T>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	A	9.828	1.187677	0.21870	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.17370	2.28;2.28;2.28	3.87	1.32	0.21799	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.243868	0.29192	N	0.012880	T	0.14141	0.0342	L	0.55743	1.74	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.20273	-1.0280	10	0.33141	T	0.24	.	6.4187	0.21732	0.6021:0.0:0.0:0.3979	.	55	Q06141	REG3A_HUMAN	Y	55	ENSP00000386630:F55Y;ENSP00000377456:F55Y;ENSP00000304311:F55Y	ENSP00000304311:F55Y	F	-	2	0	REG3A	79239316	0.047000	0.20315	0.009000	0.14445	0.014000	0.08584	2.274000	0.43390	0.263000	0.21812	0.491000	0.48974	TTT		0.552	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		21	45	0	0	0	0	21	45				
PTCD3	55037	broad.mit.edu	37	2	86344259	86344259	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:86344259G>A	ENST00000254630.7	+	6	457	c.391G>A	c.(391-393)Gac>Aac	p.D131N	PTCD3_ENST00000409277.3_Missense_Mutation_p.D131N|PTCD3_ENST00000465560.1_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	131					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.D131N(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TTTTCAGAAGGACATAGCTGA	0.313																																						uc002sqw.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(391-393)GAC>AAC		pentatricopeptide repeat domain 3 precursor							52.0	53.0	53.0					2																	86344259		2202	4299	6501	SO:0001583	missense	55037					mitochondrion	protein binding	g.chr2:86344259G>A		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.391G>A	2.37:g.86344259G>A	ENSP00000254630:p.Asp131Asn					PTCD3_uc010ytc.1_RNA	p.D131N	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN			6	457	+			131					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	c.391G>A	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493547	0.64186	.	.	ENSG00000132300	ENST00000254630;ENST00000409783;ENST00000409277	T;T;T	0.33216	1.42;1.42;1.42	5.01	4.13	0.48395	.	0.095525	0.64402	D	0.000002	T	0.39226	0.1070	M	0.78801	2.425	0.52501	D	0.999955	P	0.49961	0.93	P	0.45138	0.471	T	0.38993	-0.9635	10	0.44086	T	0.13	-13.3711	12.5724	0.56344	0.0829:0.0:0.9171:0.0	.	131	Q96EY7	PTCD3_HUMAN	N	131	ENSP00000254630:D131N;ENSP00000386922:D131N;ENSP00000386462:D131N	ENSP00000254630:D131N	D	+	1	0	PTCD3	86197770	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.195000	0.58400	1.229000	0.43630	0.591000	0.81541	GAC		0.313	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		14	28	0	0	0	0	14	28				
SMYD1	150572	broad.mit.edu	37	2	88405860	88405860	+	Missense_Mutation	SNP	G	G	A	rs114851602	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:88405860G>A	ENST00000419482.2	+	8	1083	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.R320Q	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	333					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R333Q(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AAATTATGCCGGGAGTGCCTG	0.522													G|||	14	0.00279553	0.0106	0.0	5008	,	,		19941	0.0		0.0	False		,,,				2504	0.0					uc002ssr.2		NA																	1	Substitution - Missense(1)		central_nervous_system(1)	ovary(2)|lung(1)|skin(1)	4						c.(997-999)CGG>CAG		SET and MYND domain containing 1		G	GLN/ARG	30,4376	36.8+/-68.6	1,28,2174	138.0	103.0	115.0		998	5.1	1.0	2	dbSNP_132	115	0,8600		0,0,4300	yes	missense	SMYD1	NM_198274.3	43	1,28,6474	AA,AG,GG		0.0,0.6809,0.2307	possibly-damaging	333/491	88405860	30,12976	2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88405860G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.998G>A	2.37:g.88405860G>A	ENSP00000393453:p.Arg333Gln					SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.R29Q	p.R333Q	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			8	1000	+			333					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.998G>A	CCDS33240.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	15.87	2.961728	0.53400	0.006809	0.0	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.21734	1.99;1.99	5.09	5.09	0.68999	.	0.049966	0.85682	D	0.000000	T	0.14399	0.0348	M	0.72479	2.2	0.80722	D	1	P	0.46706	0.883	B	0.29598	0.104	T	0.19224	-1.0312	10	0.16420	T	0.52	-25.3863	17.8971	0.88892	0.0:0.0:1.0:0.0	.	333	Q8NB12	SMYD1_HUMAN	Q	333;320;154	ENSP00000393453:R333Q;ENSP00000407888:R320Q	ENSP00000295833:R154Q	R	+	2	0	SMYD1	88186975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.292000	0.78731	2.528000	0.85240	0.579000	0.79373	CGG		0.522	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		8	41	0	0	0	0	8	41				
TRIM43	129868	broad.mit.edu	37	2	96260835	96260835	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:96260835A>G	ENST00000272395.2	+	3	585	c.449A>G	c.(448-450)aAg>aGg	p.K150R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	150						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						TTATGGAAAAAGATTCAAGAA	0.403																																						uc002suv.2		NA																	0				ovary(1)	1						c.(448-450)AAG>AGG		tripartite motif-containing 43							45.0	46.0	45.0					2																	96260835		2203	4298	6501	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260835A>G	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.449A>G	2.37:g.96260835A>G	ENSP00000272395:p.Lys150Arg						p.K150R	NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN			3	585	+			150			Potential.		Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.449A>G	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	7.759	0.705038	0.15172	.	.	ENSG00000144015	ENST00000272395	T	0.69175	-0.38	1.04	-0.251	0.13003	.	.	.	.	.	T	0.57607	0.2065	M	0.69823	2.125	0.09310	N	1	P	0.36660	0.564	B	0.35413	0.202	T	0.48801	-0.9003	9	0.38643	T	0.18	-3.6609	3.1016	0.06328	0.7135:0.0:0.2865:0.0	.	150	Q96BQ3	TRI43_HUMAN	R	150	ENSP00000272395:K150R	ENSP00000272395:K150R	K	+	2	0	TRIM43	95624562	0.046000	0.20272	0.338000	0.25549	0.266000	0.26442	0.055000	0.14229	-0.065000	0.13021	-0.604000	0.04097	AAG		0.403	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		28	36	0	0	0	0	28	36				
RANBP2	5903	broad.mit.edu	37	2	109392196	109392196	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:109392196G>C	ENST00000283195.6	+	24	8427	c.8301G>C	c.(8299-8301)caG>caC	p.Q2767H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2767					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAAATCTCAGACAGAAGAAA	0.343																																						uc002tem.3		NA																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(8299-8301)CAG>CAC		RAN binding protein 2							131.0	133.0	132.0					2																	109392196		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109392196G>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.8301G>C	2.37:g.109392196G>C	ENSP00000283195:p.Gln2767His						p.Q2767H	NM_006267	NP_006258	P49792	RBP2_HUMAN			24	8427	+			2767					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.8301G>C	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	9.139	1.013242	0.19277	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29142	1.58	5.8	-4.81	0.03180	Nup358/RanBP2 E3 ligase domain (1);	.	.	.	.	T	0.13286	0.0322	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.28776	-1.0033	9	0.59425	D	0.04	-1.3387	1.5749	0.02622	0.2331:0.337:0.2495:0.1804	.	2767	P49792	RBP2_HUMAN	H	1791;2767	ENSP00000283195:Q2767H	ENSP00000283195:Q2767H	Q	+	3	2	RANBP2	108758628	0.000000	0.05858	0.009000	0.14445	0.068000	0.16541	-1.625000	0.02036	-0.462000	0.06984	-0.176000	0.13171	CAG		0.343	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		14	83	0	0	0	0	14	83				
CNTNAP5	129684	broad.mit.edu	37	2	125504962	125504962	+	Splice_Site	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:125504962G>T	ENST00000431078.1	+	14	2595	c.2231G>T	c.(2230-2232)tGg>tTg	p.W744L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	744	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGGATGAATGGTAATGAGAA	0.458																																						uc002tno.2		NA																	0				ovary(10)	10						c.(2230-2232)TGG>TTG		contactin associated protein-like 5 precursor							136.0	130.0	132.0					2																	125504962		2061	4228	6289	SO:0001630	splice_region_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125504962G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2231+1G>T	2.37:g.125504962G>T						CNTNAP5_uc010flu.2_Missense_Mutation_p.W745L	p.W744L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	14	2595	+			744			Extracellular (Potential).|Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2231G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102876	0.76983	.	.	ENSG00000155052	ENST00000431078	T	0.25085	1.82	6.04	6.04	0.98038	.	0.000000	0.47852	D	0.000211	T	0.33030	0.0849	M	0.71036	2.16	0.80722	D	1	B	0.22276	0.067	B	0.15484	0.013	T	0.04115	-1.0976	10	0.31617	T	0.26	.	19.5772	0.95449	0.0:0.0:1.0:0.0	.	744	Q8WYK1	CNTP5_HUMAN	L	744	ENSP00000399013:W744L	ENSP00000399013:W744L	W	+	2	0	CNTNAP5	125221432	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	9.480000	0.97931	2.876000	0.98609	0.650000	0.86243	TGG		0.458	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Missense_Mutation	19	88	1	0	2.89e-11	3.28e-11	19	88				
LRP1B	53353	broad.mit.edu	37	2	141751681	141751681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:141751681G>A	ENST00000389484.3	-	16	3498	c.2527C>T	c.(2527-2529)Cac>Tac	p.H843Y	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	843					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTACATATGTGAGGTAGTGCT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2527-2529)CAC>TAC		low density lipoprotein-related protein 1B							119.0	113.0	115.0					2																	141751681		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141751681G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2527C>T	2.37:g.141751681G>A	ENSP00000374135:p.His843Tyr	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.H843Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	16	3499	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	843			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2527C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141905	0.57044	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91068	-2.78	5.76	4.83	0.62350	.	0.317775	0.30101	U	0.010411	D	0.89656	0.6778	M	0.75085	2.285	0.23204	N	0.998123	B	0.22146	0.065	B	0.28385	0.089	T	0.80188	-0.1486	10	0.35671	T	0.21	.	12.0499	0.53501	0.0:0.1299:0.7355:0.1346	.	843	Q9NZR2	LRP1B_HUMAN	Y	843;781	ENSP00000374135:H843Y	ENSP00000374135:H843Y	H	-	1	0	LRP1B	141468151	1.000000	0.71417	0.328000	0.25416	0.668000	0.39293	4.892000	0.63193	2.715000	0.92844	0.563000	0.77884	CAC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	38	0	0	0	0	12	38				
METAP1D	254042	broad.mit.edu	37	2	172926266	172926266	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:172926266C>T	ENST00000315796.4	+	2	468	c.81C>T	c.(79-81)taC>taT	p.Y27Y		NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	27					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ATCATATCTACTTACACAAGC	0.363																																						uc002uhk.2		NA																	0					0						c.(79-81)TAC>TAT		methionine aminopeptidase 1D precursor							153.0	168.0	163.0					2																	172926266		2203	4300	6503	SO:0001819	synonymous_variant	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172926266C>T	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.81C>T	2.37:g.172926266C>T						MAP1D_uc010zdw.1_5'UTR	p.Y27Y	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		2	154	+			27					Q1WNX3	Silent	SNP	ENST00000315796.4	37	c.81C>T	CCDS2246.1																																																																																				0.363	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		9	133	0	0	0	0	9	133				
HOXD13	3239	broad.mit.edu	37	2	176958202	176958202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:176958202G>A	ENST00000392539.3	+	1	584	c.584G>A	c.(583-585)gGc>gAc	p.G195D		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	195					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TTCTACCAGGGCTATACGAGC	0.622			T	NUP98	AML*																																	uc002ukf.1		NA		Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				lung(1)	1						c.(583-585)GGC>GAC		homeobox D13							70.0	62.0	65.0					2																	176958202		2203	4300	6503	SO:0001583	missense	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176958202G>A	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.584G>A	2.37:g.176958202G>A	ENSP00000376322:p.Gly195Asp						p.G195D	NM_000523	NP_000514	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	1	671	+			195						Missense_Mutation	SNP	ENST00000392539.3	37	c.584G>A	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371845	0.61624	.	.	ENSG00000128714	ENST00000392539	D	0.95412	-3.7	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000009	D	0.97250	0.9101	M	0.81341	2.54	0.48087	D	0.999586	D	0.67145	0.996	D	0.62955	0.909	D	0.97998	1.0358	10	0.87932	D	0	.	15.5997	0.76613	0.0:0.0:1.0:0.0	.	195	P35453	HXD13_HUMAN	D	195	ENSP00000376322:G195D	ENSP00000376322:G195D	G	+	2	0	HOXD13	176666448	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	5.710000	0.68392	2.184000	0.69523	0.563000	0.77884	GGC		0.622	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			14	66	0	0	0	0	14	66				
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		15	Substitution - Missense(15)		lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)	central_nervous_system(1)	1						c.(85-87)GAT>CAT		nuclear factor erythroid 2-like 2 isoform 1							66.0	59.0	61.0					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098960C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>C	2.37:g.178098960C>G	ENSP00000380252:p.Asp29His	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.D13H|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13H|NFE2L2_uc002uli.3_Missense_Mutation_p.D13H|NFE2L2_uc010fra.2_Missense_Mutation_p.D13H|NFE2L2_uc010frb.2_Missense_Mutation_p.D13H	p.D29H	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	640	-			29					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.85G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072800	0.76415	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	13;29;13;13;13;13;13	ENSP00000380253:D13H;ENSP00000380252:D29H;ENSP00000411575:D13H;ENSP00000391590:D13H;ENSP00000400073:D13H;ENSP00000412191:D13H;ENSP00000410015:D13H	ENSP00000380252:D29H	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		8	32	0	0	0	0	8	32				
DNAH7	56171	broad.mit.edu	37	2	196866401	196866401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:196866401G>A	ENST00000312428.6	-	11	1271	c.1171C>T	c.(1171-1173)Cca>Tca	p.P391S	DNAH7_ENST00000410072.1_Missense_Mutation_p.P391S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	391	Stem. {ECO:0000250}.				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						ATACTTACTGGGGGTTGTGCA	0.368																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(1171-1173)CCA>TCA		dynein, axonemal, heavy chain 7							88.0	77.0	80.0					2																	196866401		1863	4100	5963	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196866401G>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.1171C>T	2.37:g.196866401G>A	ENSP00000311273:p.Pro391Ser						p.P391S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			11	1272	-			391			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.1171C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643597	0.29246	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.21031	2.03;2.83	5.77	3.92	0.45320	.	6.021370	0.00834	N	0.001687	T	0.26448	0.0646	L	0.50919	1.6	0.38194	D	0.940001	B	0.06786	0.001	B	0.06405	0.002	T	0.49551	-0.8928	10	0.08837	T	0.75	.	16.3689	0.83346	0.0:0.3705:0.6295:0.0	.	391	Q8WXX0	DYH7_HUMAN	S	391	ENSP00000311273:P391S;ENSP00000386260:P391S	ENSP00000311273:P391S	P	-	1	0	DNAH7	196574646	0.439000	0.25610	0.397000	0.26308	0.644000	0.38419	1.222000	0.32515	0.744000	0.32741	0.655000	0.94253	CCA		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		15	41	0	0	0	0	15	41				
CLK1	1195	broad.mit.edu	37	2	201722606	201722606	+	Splice_Site	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:201722606G>A	ENST00000321356.4	-	7	802	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	CLK1_ENST00000434813.2_Splice_Site_p.R265C|CLK1_ENST00000409769.2_Splice_Site_p.R46C	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGGACACAGCGGCTACAAACA	0.353																																						uc002uwe.2		NA																	0				pancreas(2)	2						c.(667-669)CGC>TGC		CDC-like kinase 1 isoform 1							109.0	107.0	108.0					2																	201722606		2203	4300	6503	SO:0001630	splice_region_variant	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201722606G>A	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.666-1C>T	2.37:g.201722606G>A						CLK1_uc002uwd.2_Missense_Mutation_p.R46C|CLK1_uc010zhi.1_Missense_Mutation_p.R265C|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_Missense_Mutation_p.R72C|CLK1_uc010fsv.2_RNA	p.R223C	NM_004071	NP_004062	P49759	CLK1_HUMAN			7	848	-			223			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.667C>T	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.616948	0.28801	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.20332	2.08;2.08;2.08	5.41	3.6	0.41247	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.365869	0.32093	N	0.006592	T	0.19327	0.0464	L	0.50333	1.59	0.50039	D	0.999845	B;B;B;B	0.26081	0.141;0.003;0.141;0.069	B;B;B;B	0.27380	0.079;0.007;0.079;0.011	T	0.04029	-1.0983	10	0.62326	D	0.03	.	7.6152	0.28154	0.1523:0.1382:0.7095:0.0	.	265;193;223;46	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	C	223;193;46;265	ENSP00000326830:R223C;ENSP00000386358:R46C;ENSP00000394734:R265C	ENSP00000326830:R223C	R	-	1	0	CLK1	201430851	0.975000	0.34042	1.000000	0.80357	0.837000	0.47467	1.230000	0.32612	0.759000	0.33084	0.563000	0.77884	CGC		0.353	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2		Missense_Mutation	8	139	0	0	0	0	8	139				
NYAP2	57624	broad.mit.edu	37	2	226447464	226447464	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:226447464G>T	ENST00000272907.6	+	4	1744	c.1331G>T	c.(1330-1332)aGg>aTg	p.R444M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	444	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGCATGGGGAGGTCCCTGACT	0.637																																						uc002voe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1330-1332)AGG>ATG		hypothetical protein LOC57624							39.0	43.0	42.0					2																	226447464		2025	4188	6213	SO:0001583	missense	57624							g.chr2:226447464G>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1331G>T	2.37:g.226447464G>T	ENSP00000272907:p.Arg444Met					KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.R214M	p.R444M	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1506	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	444			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1331G>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928055	0.73327	.	.	ENSG00000144460	ENST00000272907	T	0.33865	1.39	5.19	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53578	-0.8419	10	0.62326	D	0.03	-25.8492	13.4494	0.61161	0.0752:0.0:0.9248:0.0	.	444	Q9P242	K1486_HUMAN	M	444	ENSP00000272907:R444M	ENSP00000272907:R444M	R	+	2	0	KIAA1486	226155708	1.000000	0.71417	0.919000	0.36401	0.993000	0.82548	9.476000	0.97823	1.185000	0.42971	0.563000	0.77884	AGG		0.637	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		8	42	1	0	1.07e-07	1.2e-07	8	42				
DIS3L2	129563	broad.mit.edu	37	2	233201320	233201320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:233201320G>A	ENST00000409307.1	+	20	2638	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Missense_Mutation_p.E880K					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGGTGAGCCCGAGGACTCAAG	0.677																																						uc010fxz.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(2638-2640)GAG>AAG		DIS3 mitotic control homolog (S.							17.0	24.0	22.0					2																	233201320		2065	4194	6259	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233201320G>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2638G>A	2.37:g.233201320G>A	ENSP00000386799:p.Glu880Lys					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_RNA	p.E880K	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	21	2914	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	880						Missense_Mutation	SNP	ENST00000409307.1	37	c.2638G>A	CCDS42834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.92|14.92	2.678795|2.678795	0.47886|0.47886	.|.	.|.	ENSG00000144535|ENSG00000144535	ENST00000325385;ENST00000409307|ENST00000418143	T;T|.	0.23348|.	1.91;1.91|.	4.94|4.94	-0.192|-0.192	0.13248|0.13248	.|.	.|.	.|.	.|.	.|.	T|T	0.20292|0.20292	0.0488|0.0488	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.24476|0.24476	-1.0159|-1.0159	9|5	0.49607|.	T|.	0.09|.	.|.	3.0212|3.0212	0.06076|0.06076	0.1718:0.1675:0.5308:0.1299|0.1718:0.1675:0.5308:0.1299	.|.	880|.	Q8IYB7|.	DI3L2_HUMAN|.	K|Q	880|160	ENSP00000315569:E880K;ENSP00000386799:E880K|.	ENSP00000315569:E880K|.	E|R	+|+	1|2	0|0	DIS3L2|DIS3L2	232909564|232909564	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-0.662000|-0.662000	0.05305|0.05305	-0.401000|-0.401000	0.07644|0.07644	-0.187000|-0.187000	0.12897|0.12897	GAG|CGA		0.677	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		3	7	0	0	0	0	3	7				
ING5	84289	broad.mit.edu	37	2	242650891	242650891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:242650891C>T	ENST00000313552.6	+	4	402	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	126					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTCCGGAGGGCGAGGGTTAAA	0.398																																						uc002wcd.2		NA																	0					0						c.(376-378)CGA>TGA		inhibitor of growth family, member 5							119.0	135.0	130.0					2																	242650891		2203	4296	6499	SO:0001587	stop_gained	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242650891C>T	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.376C>T	2.37:g.242650891C>T	ENSP00000322142:p.Arg126*					ING5_uc002wcc.1_Nonsense_Mutation_p.R126*	p.R126*	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	4	401	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	126					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Nonsense_Mutation	SNP	ENST00000313552.6	37	c.376C>T	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009933	0.75046	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.83	3.83	0.44106	.	0.118397	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-17.5543	16.4987	0.84252	0.2498:0.7502:0.0:0.0	.	.	.	.	X	126	.	ENSP00000322142:R126X	R	+	1	2	ING5	242299564	0.956000	0.32656	0.056000	0.19401	0.828000	0.46876	2.195000	0.42677	1.460000	0.47911	-0.181000	0.13052	CGA		0.398	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		17	46	0	0	0	0	17	46				
FLRT3	23767	broad.mit.edu	37	20	14306666	14306666	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:14306666C>G	ENST00000378053.3	-	2	1743	c.1487G>C	c.(1486-1488)tGt>tCt	p.C496S	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.C496S|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	496	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AGTCTCAATACAAACAGGAGT	0.448																																						uc002wov.1		NA																	0				kidney(1)	1						c.(1486-1488)TGT>TCT		fibronectin leucine rich transmembrane protein 3							114.0	108.0	110.0					20																	14306666		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306666C>G	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1487G>C	20.37:g.14306666C>G	ENSP00000367292:p.Cys496Ser					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.C496S	p.C496S	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1954	-		Colorectal(1;0.0464)	496			Extracellular (Potential).|Fibronectin type-III.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.1487G>C	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303141	0.60195	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.65178	-0.14;-0.14	6.07	6.07	0.98685	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.78368	-0.2231	10	0.72032	D	0.01	-9.3696	20.6439	0.99570	0.0:1.0:0.0:0.0	.	496	Q9NZU0	FLRT3_HUMAN	S	496	ENSP00000367292:C496S;ENSP00000339912:C496S	ENSP00000339912:C496S	C	-	2	0	FLRT3	14254666	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	TGT		0.448	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		10	77	0	0	0	0	10	77				
DNMT3B	1789	broad.mit.edu	37	20	31374312	31374312	+	Missense_Mutation	SNP	G	G	A	rs551752168	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:31374312G>A	ENST00000328111.2	+	5	632	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	DNMT3B_ENST00000353855.2_Missense_Mutation_p.R104Q|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R104Q|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R104Q|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R116Q|DNMT3B_ENST00000375623.4_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	104	Interaction with DNMT1 and DNMT3A.				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						TTCTAGGTCCGAACTCGAAAT	0.627													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19411	0.0		0.0	False		,,,				2504	0.0					uc002wyc.2		NA																	0				lung(3)|ovary(2)	5						c.(310-312)CGA>CAA		DNA cytosine-5 methyltransferase 3 beta isoform							59.0	58.0	59.0					20																	31374312		2203	4300	6503	SO:0001583	missense	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.chr20:31374312G>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.311G>A	20.37:g.31374312G>A	ENSP00000328547:p.Arg104Gln					DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Missense_Mutation_p.R104Q|DNMT3B_uc002wye.2_Missense_Mutation_p.R104Q|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Intron|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Missense_Mutation_p.R116Q	p.R104Q	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			5	632	+			104			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.311G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541646	0.45280	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000344505;ENST00000201963	D;D;D;D;D	0.97688	-4.43;-4.48;-4.45;-4.32;-4.49	4.64	2.64	0.31445	.	0.700394	0.13323	N	0.396487	D	0.93697	0.7986	L	0.27053	0.805	0.80722	D	1	B;D;B;B	0.57257	0.196;0.979;0.341;0.277	B;B;B;B	0.43123	0.031;0.409;0.043;0.026	D	0.90428	0.4422	10	0.37606	T	0.19	-3.2639	7.2308	0.26040	0.2072:0.0:0.7928:0.0	.	116;104;104;104	Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;DNM3B_HUMAN	Q	104;190;104;104;104;116	ENSP00000328547:R104Q;ENSP00000313397:R104Q;ENSP00000337764:R104Q;ENSP00000345105:R104Q;ENSP00000201963:R116Q	ENSP00000201963:R116Q	R	+	2	0	DNMT3B	30837973	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.745000	0.38278	1.197000	0.43143	0.561000	0.74099	CGA		0.627	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		3	30	0	0	0	0	3	30				
BPIFA3	128861	broad.mit.edu	37	20	31811751	31811751	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:31811751C>A	ENST00000375454.3	+	2	472	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	BPIFA3_ENST00000375452.3_Missense_Mutation_p.Q88K|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	88	Poly-Gln.					extracellular region (GO:0005576)	lipid binding (GO:0008289)										GAAACACCAGCAGCAGCAAGA	0.567																																						uc002wyr.2		NA																	0				ovary(1)|skin(1)	2						c.(262-264)CAG>AAG		short long palate, lung and nasal epithelium							75.0	65.0	68.0					20																	31811751		2203	4300	6503	SO:0001583	missense	128861					extracellular region	lipid binding	g.chr20:31811751C>A		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.262C>A	20.37:g.31811751C>A	ENSP00000364603:p.Gln88Lys					C20orf71_uc002wys.2_Missense_Mutation_p.Q88K	p.Q88K	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			2	470	+			88			Poly-Gln.		Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	c.262C>A	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538197	0.27475	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.04758	3.56;3.71	4.27	3.29	0.37713	.	0.529135	0.16043	N	0.232357	T	0.05777	0.0151	L	0.27053	0.805	0.24021	N	0.996144	B;P	0.35033	0.123;0.481	B;B	0.42030	0.034;0.373	T	0.31971	-0.9924	10	0.72032	D	0.01	-1.4909	9.2716	0.37675	0.2148:0.7852:0.0:0.0	.	88;88	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	K	88	ENSP00000364603:Q88K;ENSP00000364601:Q88K	ENSP00000364601:Q88K	Q	+	1	0	BPIFA3	31275412	0.994000	0.37717	0.788000	0.31933	0.076000	0.17211	0.436000	0.21526	1.325000	0.45301	0.655000	0.94253	CAG		0.567	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		20	33	1	0	1.26e-06	1.4e-06	20	33				
RALGAPB	57148	broad.mit.edu	37	20	37150265	37150265	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:37150265G>C	ENST00000262879.6	+	10	1827	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	RALGAPB_ENST00000397040.1_Missense_Mutation_p.E515Q|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E515Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E293Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	515					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGGAAGAGCTGAGGCTTGTGG	0.413																																						uc002xiw.2		NA																	0				pancreas(1)|skin(1)	2						c.(1543-1545)GAG>CAG		Ral GTPase activating protein, beta subunit							167.0	151.0	156.0					20																	37150265		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37150265G>C	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1543G>C	20.37:g.37150265G>C	ENSP00000262879:p.Glu515Gln					RALGAPB_uc010zvz.1_Intron|RALGAPB_uc002xix.2_Missense_Mutation_p.E515Q|RALGAPB_uc002xiy.1_Missense_Mutation_p.E515Q|RALGAPB_uc002xiz.2_Missense_Mutation_p.E293Q|RALGAPB_uc002xja.1_Missense_Mutation_p.E242Q	p.E515Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			10	1800	+			515					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1543G>C	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917980	0.73098	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.66280	-0.2;-0.2	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.80560	0.4646	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.76494	0.999;0.989;0.996;0.989	D;D;D;D	0.83275	0.996;0.979;0.991;0.979	T	0.76473	-0.2946	10	0.32370	T	0.25	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	343;515;515;515	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	Q	515;515;515;293;515;343	ENSP00000262879:E515Q;ENSP00000380233:E515Q	ENSP00000262879:E515Q	E	+	1	0	RALGAPB	36583679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.826000	0.97356	0.561000	0.74099	GAG		0.413	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		16	98	0	0	0	0	16	98				
ZNF334	55713	broad.mit.edu	37	20	45130768	45130768	+	Missense_Mutation	SNP	G	G	A	rs141823361	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:45130768G>A	ENST00000347606.4	-	5	1392	c.1210C>T	c.(1210-1212)Ccc>Tcc	p.P404S	ZNF334_ENST00000457685.2_Missense_Mutation_p.P366S|ZNF334_ENST00000593880.1_Missense_Mutation_p.P427S	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATTCATAGGGTTTTTCCCCT	0.438																																						uc002xsc.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1210-1212)CCC>TCC		zinc finger protein 334 isoform a							126.0	118.0	120.0					20																	45130768		2203	4299	6502	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130768G>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1210C>T	20.37:g.45130768G>A	ENSP00000255129:p.Pro404Ser					ZNF334_uc002xsa.2_Missense_Mutation_p.P427S|ZNF334_uc002xsb.2_Missense_Mutation_p.P366S|ZNF334_uc002xsd.2_Missense_Mutation_p.P366S|ZNF334_uc010ghl.2_Missense_Mutation_p.P403S	p.P404S	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			5	1394	-		Myeloproliferative disorder(115;0.0122)	404					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.1210C>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197657	0.58126	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.28454	1.61;1.61	3.18	3.18	0.36537	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43233	0.1238	L	0.41079	1.255	0.41685	D	0.989315	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.983;0.983;0.983	T	0.34179	-0.9839	9	0.48119	T	0.1	.	12.2048	0.54346	0.0:0.0:1.0:0.0	.	366;404;427	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	S	366;404	ENSP00000402582:P366S;ENSP00000255129:P404S	ENSP00000255129:P404S	P	-	1	0	ZNF334	44564175	1.000000	0.71417	0.172000	0.22920	0.573000	0.36030	7.804000	0.85993	1.763000	0.52060	0.591000	0.81541	CCC		0.438	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			28	128	0	0	0	0	28	128				
LAMA5	3911	broad.mit.edu	37	20	60885489	60885489	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:60885489C>G	ENST00000252999.3	-	76	10652	c.10586G>C	c.(10585-10587)gGa>gCa	p.G3529A	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3529	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGTGATAACTCCCCCGCTGCC	0.692																																						uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(10585-10587)GGA>GCA		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						16.0	20.0	19.0					20																	60885489		2177	4261	6438	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60885489C>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10586G>C	20.37:g.60885489C>G	ENSP00000252999:p.Gly3529Ala						p.G3529A	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		76	10653	-	Breast(26;1.57e-08)		3529			Laminin G-like 5.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.10586G>C	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	19.57	3.853319	0.71719	.	.	ENSG00000130702	ENST00000252999	T	0.81415	-1.49	4.99	4.03	0.46877	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	U	0.000000	D	0.88112	0.6349	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88706	0.3219	10	0.66056	D	0.02	.	12.628	0.56640	0.1662:0.8338:0.0:0.0	.	3529	O15230	LAMA5_HUMAN	A	3529	ENSP00000252999:G3529A	ENSP00000252999:G3529A	G	-	2	0	LAMA5	60318884	0.974000	0.33945	0.015000	0.15790	0.082000	0.17680	3.553000	0.53713	1.087000	0.41251	0.457000	0.33378	GGA		0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	36	0	0	0	0	4	36				
TPTE	7179	broad.mit.edu	37	21	11012916	11012916	+	Splice_Site	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr21:11012916C>A	ENST00000415664.2	-	8	1004		c.e8+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATTTTACCTAGCTTTTT	0.299																																						uc002yis.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.e9+1		Homo sapiens putative tyrosine phosphatase mRNA, complete cds.																																				SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:11012916C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.2332+1G>T	21.37:g.11012916C>A										P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9		-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37	c.1704_splice																																																																																					0.299	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	4	15	1	0	0.00024832	0.000264664	4	15				
IGSF5	150084	broad.mit.edu	37	21	41142937	41142937	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr21:41142937C>T	ENST00000380588.4	+	4	616	c.513C>T	c.(511-513)ctC>ctT	p.L171L	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	171	Ig-like V-type 2.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GGACCCGGCTCCCGGATATTT	0.502																																						uc002yyo.2		NA																	0					0						c.(511-513)CTC>CTT		immunoglobulin superfamily 5 like							67.0	65.0	66.0					21																	41142937		2203	4300	6503	SO:0001819	synonymous_variant	150084					integral to membrane|tight junction		g.chr21:41142937C>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.513C>T	21.37:g.41142937C>T							p.L171L	NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN			4	616	+		Prostate(19;5.35e-06)	171			Ig-like V-type 2.|Extracellular (Potential).			Silent	SNP	ENST00000380588.4	37	c.513C>T	CCDS33562.1																																																																																				0.502	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			21	32	0	0	0	0	21	32				
C21orf33	8209	broad.mit.edu	37	21	45563136	45563136	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr21:45563136G>C	ENST00000291577.6	+	6	664	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	C21orf33_ENST00000348499.5_Missense_Mutation_p.E160Q	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	191						mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CAGAGGCGTCGAGGTGACTGT	0.622																																						uc002zec.3		NA																	0				ovary(1)	1						c.(571-573)GAG>CAG		es1 protein isoform Ia precursor							76.0	64.0	68.0					21																	45563136		2203	4300	6503	SO:0001583	missense	8209					mitochondrion		g.chr21:45563136G>C	Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.571G>C	21.37:g.45563136G>C	ENSP00000291577:p.Glu191Gln					C21orf33_uc002zed.3_Missense_Mutation_p.E160Q	p.E191Q	NM_004649	NP_004640	P30042	ES1_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)	6	657	+			191					A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	ENST00000291577.6	37	c.571G>C	CCDS33580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.14|19.14	3.769658|3.769658	0.69992|0.69992	.|.	.|.	ENSG00000248354;ENSG00000160221;ENSG00000160221|ENSG00000160221	ENST00000433711;ENST00000291577;ENST00000348499|ENST00000449622	T;T|.	0.80033|.	-1.33;1.45|.	4.69|4.69	4.69|4.69	0.59074|0.59074	ThiJ/PfpI (1);|.	0.054165|.	0.64402|.	D|.	0.000001|.	T|T	0.71417|0.71417	0.3337|0.3337	L|L	0.58428|0.58428	1.81|1.81	0.58432|0.58432	D|D	0.999998|0.999998	P;D|.	0.54964|.	0.852;0.969|.	P;P|.	0.54238|.	0.475;0.746|.	T|T	0.70364|0.70364	-0.4892|-0.4892	10|5	0.39692|.	T|.	0.17|.	-47.523|-47.523	18.0274|18.0274	0.89273|0.89273	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	160;191|.	P30042-2;P30042|.	.;ES1_HUMAN|.	Q|P	170;191;160|179	ENSP00000291577:E191Q;ENSP00000344901:E160Q|.	ENSP00000415634:E170Q|.	E|R	+|+	1|2	0|0	C21orf33;AP001055.7|C21orf33	44387564|44387564	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.170000|0.170000	0.22686|0.22686	9.254000|9.254000	0.95512|0.95512	2.332000|2.332000	0.79248|0.79248	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.622	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195824.1	NM_004649		11	17	0	0	0	0	11	17				
KLHL22	84861	broad.mit.edu	37	22	20843396	20843396	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr22:20843396C>T	ENST00000328879.4	-	2	259	c.103G>A	c.(103-105)Gct>Act	p.A35T	KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	35					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGAGCAGAGCCTGGGAGTGC	0.627																																						uc002zsl.1		NA																	0				lung(1)	1						c.(103-105)GCT>ACT		kelch-like							120.0	98.0	105.0					22																	20843396		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20843396C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.103G>A	22.37:g.20843396C>T	ENSP00000331682:p.Ala35Thr					KLHL22_uc011ahr.1_5'UTR|KLHL22_uc002zsm.1_Missense_Mutation_p.A35T	p.A35T	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		2	212	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	35					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.103G>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	c	11.68	1.710187	0.30322	.	.	ENSG00000099910	ENST00000328879;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430;ENST00000423364	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;2.02	5.14	1.49	0.22878	BTB/POZ fold (2);	0.349895	0.33438	N	0.004916	T	0.43853	0.1266	N	0.08118	0	0.80722	D	1	B	0.20261	0.043	B	0.19946	0.027	T	0.12243	-1.0555	10	0.12766	T	0.61	.	8.6532	0.34046	0.279:0.6377:0.0:0.0832	.	35	Q53GT1	KLH22_HUMAN	T	35;67;35;69;35;67	ENSP00000331682:A35T;ENSP00000403999:A67T;ENSP00000398616:A35T;ENSP00000397882:A69T;ENSP00000409092:A35T;ENSP00000402746:A67T	ENSP00000331682:A35T	A	-	1	0	KLHL22	19173396	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	0.880000	0.28159	0.583000	0.29574	-0.243000	0.11985	GCT		0.627	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		13	41	0	0	0	0	13	41				
PATZ1	23598	broad.mit.edu	37	22	31740836	31740836	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr22:31740836G>A	ENST00000266269.5	-	1	1382	c.753C>T	c.(751-753)ttC>ttT	p.F251F	PATZ1_ENST00000215919.3_Silent_p.F251F|PATZ1_ENST00000405309.3_Silent_p.F251F|PATZ1_ENST00000351933.4_Silent_p.F251F|AC005003.1_ENST00000504184.2_5'Flank	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	251					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCACACTGGGGAATGGGGAAG	0.647																																						uc003akq.2		NA																EWSR1/PATZ1(2)	0				soft_tissue(2)	2						c.(751-753)TTC>TTT		POZ (BTB) and AT hook containing zinc finger 1							20.0	21.0	21.0					22																	31740836		2202	4299	6501	SO:0001819	synonymous_variant	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31740836G>A	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.753C>T	22.37:g.31740836G>A						PATZ1_uc003akp.2_Silent_p.F251F|PATZ1_uc003akr.2_Silent_p.F251F|PATZ1_uc003aks.2_Silent_p.F251F|uc003akt.2_5'Flank	p.F251F	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			1	1414	-			251					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	c.753C>T	CCDS13894.1																																																																																				0.647	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		3	26	0	0	0	0	3	26				
CELSR1	9620	broad.mit.edu	37	22	46859643	46859643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr22:46859643C>T	ENST00000262738.3	-	2	4143	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E1382K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1382	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TAGCCGCCCTCGCGGCTGCGG	0.687																																						uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(4144-4146)GAG>AAG		cadherin EGF LAG seven-pass G-type receptor 1							13.0	11.0	12.0					22																	46859643		2128	4185	6313	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859643C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4144G>A	22.37:g.46859643C>T	ENSP00000262738:p.Glu1382Lys						p.E1382K	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	4144	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1382			Extracellular (Potential).|EGF-like 2; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4144G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586164	0.86851	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	D;D	0.87334	-2.24;-2.05	4.22	4.22	0.49857	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	U	0.000003	D	0.90065	0.6897	L	0.35723	1.085	0.50039	D	0.999842	D	0.89917	1.0	D	0.76575	0.988	D	0.91493	0.5213	10	0.72032	D	0.01	.	16.3944	0.83563	0.0:1.0:0.0:0.0	.	1382	Q9NYQ6	CELR1_HUMAN	K	1382	ENSP00000262738:E1382K;ENSP00000379293:E1382K	ENSP00000262738:E1382K	E	-	1	0	CELSR1	45238307	1.000000	0.71417	0.991000	0.47740	0.595000	0.36748	6.982000	0.76173	2.173000	0.68751	0.655000	0.94253	GAG		0.687	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		3	3	0	0	0	0	3	3				
TTLL3	26140	broad.mit.edu	37	3	9859377	9859377	+	Missense_Mutation	SNP	G	G	C	rs73116112	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:9859377G>C	ENST00000547186.1	+	5	580	c.364G>C	c.(364-366)Gat>Cat	p.D122H	TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.D265H|TTLL3_ENST00000430793.1_5'Flank|TTLL3_ENST00000383827.1_5'Flank|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.D216H|TTLL3_ENST00000455274.1_5'Flank|TTLL3_ENST00000427853.3_5'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	122					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)					TGATGAGGTTGATGCCAACTC	0.552													G|||	28	0.00559105	0.0204	0.0	5008	,	,		19327	0.0		0.001	False		,,,				2504	0.0					uc003btg.2		NA																	0				large_intestine(2)	2						c.(364-366)GAT>CAT		tubulin tyrosine ligase-like family, member 3		G	HIS/ASP,HIS/ASP	77,4053		1,75,1989	164.0	153.0	157.0		793,646	4.1	1.0	3	dbSNP_130	157	2,8416		0,2,4207	yes	missense,missense	TTLL3,ARPC4-TTLL3	NM_001025930.3,NM_001198793.1	81,81	1,77,6196	CC,CG,GG		0.0238,1.8644,0.6296	possibly-damaging,possibly-damaging	265/916,216/626	9859377	79,12469	2065	4209	6274	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9859377G>C		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.364G>C	3.37:g.9859377G>C	ENSP00000446659:p.Asp122His					ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.D122H|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_Missense_Mutation_p.D58H|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_Missense_Mutation_p.D58H|TTLL3_uc003btj.3_5'UTR|TTLL3_uc003bti.3_5'UTR	p.D122H	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN			5	580	+	Medulloblastoma(99;0.227)		122					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.364G>C		4|4	0.0018315018315018315|0.0018315018315018315	4|4	0.008130081300813009|0.008130081300813009	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	15.16|15.16	2.752326|2.752326	0.49362|0.49362	0.018644|0.018644	2.38E-4|2.38E-4	ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021|ENSG00000214021	ENST00000397256;ENST00000417065;ENST00000426895;ENST00000547186;ENST00000426827;ENST00000422738;ENST00000443148|ENST00000310252;ENST00000452823	T;T;T;T;T;T;T|.	0.50548|.	3.05;0.74;3.43;3.54;3.15;0.96;3.61|.	5.05|5.05	4.05|4.05	0.47172|0.47172	.|.	0.303860|.	0.28247|.	U|.	0.016047|.	T|.	0.57519|.	0.2059|.	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	B;P|.	0.37548|.	0.22;0.599|.	B;B|.	0.37267|.	0.234;0.245|.	T|.	0.67292|.	-0.5707|.	10|.	0.46703|.	T|.	0.11|.	.|.	11.7683|11.7683	0.51943|0.51943	0.1226:0.0:0.8774:0.0|0.1226:0.0:0.8774:0.0	.|.	61;122|.	B4DM47;Q9Y4R7|.	.;TTLL3_HUMAN|.	H|S	216;122;265;122;165;107;60|77;72	ENSP00000380427:D216H;ENSP00000408128:D122H;ENSP00000392549:D265H;ENSP00000446659:D122H;ENSP00000389904:D165H;ENSP00000412915:D107H;ENSP00000398097:D60H|.	ENSP00000380427:D216H|.	D|X	+|+	1|2	0|2	ARPC4-TTLL3;TTLL3|TTLL3	9834377|9834377	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.444000|0.444000	0.32077|0.32077	5.723000|5.723000	0.68492|0.68492	2.344000|2.344000	0.79699|0.79699	0.591000|0.591000	0.81541|0.81541	GAT|TGA		0.552	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		6	117	0	0	0	0	6	117				
EPHA6	285220	broad.mit.edu	37	3	96706569	96706569	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:96706569T>A	ENST00000389672.5	+	3	884	c.846T>A	c.(844-846)ttT>ttA	p.F282L	EPHA6_ENST00000470610.2_Missense_Mutation_p.F282L|EPHA6_ENST00000542517.1_Missense_Mutation_p.F188L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	188						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATCTGGCTTTTCAAGACATTG	0.453																																						uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(844-846)TTT>TTA		EPH receptor A6 isoform a							229.0	237.0	235.0					3																	96706569		1935	4179	6114	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706569T>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.846T>A	3.37:g.96706569T>A	ENSP00000374323:p.Phe282Leu					EPHA6_uc003drp.1_Missense_Mutation_p.F282L	p.F282L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	889	+			187			Ephrin-binding.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.846T>A	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.14|18.14	3.557430|3.557430	0.65425|0.65425	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.04119|.	3.7;3.7;3.7|.	5.48|5.48	1.86|1.86	0.25419|0.25419	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.995|.	T|T	0.77574|0.77574	-0.2537|-0.2537	10|5	0.87932|.	D|.	0|.	.|.	8.9774|8.9774	0.35944|0.35944	0.0:0.2911:0.0:0.7089|0.0:0.2911:0.0:0.7089	.|.	282;282|.	B3KS12;E7EU71|.	.;.|.	L|T	282;282;188|227	ENSP00000420598:F282L;ENSP00000374323:F282L;ENSP00000439758:F188L|.	ENSP00000374323:F282L|.	F|S	+|+	3|1	2|0	EPHA6|EPHA6	98189259|98189259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	1.080000|1.080000	0.30779|0.30779	0.375000|0.375000	0.24679|0.24679	-0.290000|-0.290000	0.09829|0.09829	TTT|TCA		0.453	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		32	324	0	0	0	0	32	324				
NPHP3	27031	broad.mit.edu	37	3	132435688	132435688	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:132435688T>C	ENST00000337331.5	-	4	822	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	NPHP3_ENST00000326682.8_Missense_Mutation_p.M246V|NPHP3_ENST00000476742.1_5'Flank	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	246					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGGATCATGCTTCCTATG	0.458																																						uc003epe.1		NA																	0				ovary(1)	1						c.(736-738)ATG>GTG		nephrocystin 3							91.0	85.0	87.0					3																	132435688		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132435688T>C	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.736A>G	3.37:g.132435688T>C	ENSP00000338766:p.Met246Val					NPHP3_uc003epf.1_Missense_Mutation_p.M1V	p.M246V	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			4	813	-			246					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.736A>G	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	T	7.123	0.578337	0.13686	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91792	-2.91;-2.82	6.13	3.69	0.42338	.	0.158234	0.64402	D	0.000001	D	0.87346	0.6154	L	0.50333	1.59	0.80722	D	1	B	0.31026	0.304	B	0.27380	0.079	T	0.81415	-0.0943	10	0.38643	T	0.18	-16.1756	8.5747	0.33592	0.1292:0.0:0.136:0.7348	.	246	Q7Z494	NPHP3_HUMAN	V	246	ENSP00000319909:M246V;ENSP00000338766:M246V	ENSP00000319909:M246V	M	-	1	0	NPHP3	133918378	1.000000	0.71417	0.975000	0.42487	0.171000	0.22731	5.150000	0.64869	0.524000	0.28502	-0.328000	0.08392	ATG		0.458	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		27	101	0	0	0	0	27	101				
SLC9A9	285195	broad.mit.edu	37	3	143082405	143082405	+	Splice_Site	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:143082405C>A	ENST00000316549.6	-	14	1733	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	509					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTATTTGCTTCCTGGGGAGAA	0.318																																						uc003evn.2		NA																	0				ovary(2)|skin(1)	3						c.(1525-1527)GAA>TAA		solute carrier family 9 (sodium/hydrogen							97.0	95.0	96.0					3																	143082405		2203	4300	6503	SO:0001630	splice_region_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143082405C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1525-1G>T	3.37:g.143082405C>A							p.E509*	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			14	1707	-			509					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Nonsense_Mutation	SNP	ENST00000316549.6	37	c.1525G>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	38	6.798104	0.97845	.	.	ENSG00000181804	ENST00000316549	.	.	.	5.7	4.83	0.62350	.	490.647000	0.00991	U	0.003531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	11.5489	0.50708	0.0:0.8457:0.0:0.1543	.	.	.	.	X	509	.	ENSP00000320246:E509X	E	-	1	0	SLC9A9	144565095	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	2.724000	0.47285	1.424000	0.47217	0.650000	0.86243	GAA		0.318	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	Nonsense_Mutation	7	86	1	0	5.18e-06	5.67e-06	7	86				
PLOD2	5352	broad.mit.edu	37	3	145809656	145809656	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:145809656G>T	ENST00000360060.3	-	8	987	c.810C>A	c.(808-810)ccC>ccA	p.P270P	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Silent_p.P215P|PLOD2_ENST00000282903.5_Silent_p.P270P	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	270					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCCATGAATTGGGTACATAGT	0.373																																						uc003evs.1		NA																	0				ovary(1)|skin(1)	2						c.(808-810)CCC>CCA		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						95.0	87.0	90.0					3																	145809656		2203	4300	6503	SO:0001819	synonymous_variant	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145809656G>T	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.810C>A	3.37:g.145809656G>T						PLOD2_uc011bnm.1_Silent_p.P215P|PLOD2_uc003evr.1_Silent_p.P270P	p.P270P	NM_000935	NP_000926	O00469	PLOD2_HUMAN			8	1316	-			270					B3KWS3|Q59ED2|Q8N170	Silent	SNP	ENST00000360060.3	37	c.810C>A	CCDS3131.1																																																																																				0.373	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		6	69	1	0	0.00116845	0.00123227	6	69				
OTOL1	131149	broad.mit.edu	37	3	161221227	161221227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:161221227G>A	ENST00000327928.4	+	4	931	c.931G>A	c.(931-933)Ggt>Agt	p.G311S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	311	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGGGCCGAAGGGTGACATTGG	0.597																																						uc011bpb.1		NA																	0					0						c.(931-933)GGT>AGT		otolin-1 precursor							30.0	31.0	31.0					3																	161221227		1897	4110	6007	SO:0001583	missense	131149					collagen		g.chr3:161221227G>A		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.931G>A	3.37:g.161221227G>A	ENSP00000330808:p.Gly311Ser						p.G311S	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			4	931	+			311			Collagen-like 3.			Missense_Mutation	SNP	ENST00000327928.4	37	c.931G>A	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789460	0.49997	.	.	ENSG00000182447	ENST00000327928	D	0.99329	-5.75	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.98818	4.34	0.52099	D	0.999949	D	0.89917	1.0	D	0.97110	1.0	D	0.97192	0.9858	10	0.62326	D	0.03	.	16.9549	0.86256	0.0:0.0:1.0:0.0	.	311	A6NHN0	OTOL1_HUMAN	S	311	ENSP00000330808:G311S	ENSP00000330808:G311S	G	+	1	0	OTOL1	162703921	1.000000	0.71417	0.981000	0.43875	0.126000	0.20510	9.383000	0.97214	2.320000	0.78422	0.557000	0.71058	GGT		0.597	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		17	19	0	0	0	0	17	19				
SI	6476	broad.mit.edu	37	3	164773033	164773033	+	Silent	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:164773033T>G	ENST00000264382.3	-	13	1523	c.1461A>C	c.(1459-1461)gcA>gcC	p.A487A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	487	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGCATTCATTTGCCCACCAAT	0.343										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1459-1461)GCA>GCC		sucrase-isomaltase	Acarbose(DB00284)						124.0	119.0	120.0					3																	164773033		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164773033T>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1461A>C	3.37:g.164773033T>G		HNSCC(35;0.089)					p.A487A	NM_001041	NP_001032	P14410	SUIS_HUMAN			13	1523	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	487			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.1461A>C	CCDS3196.1																																																																																				0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		60	65	0	0	0	0	60	65				
SI	6476	broad.mit.edu	37	3	164783161	164783161	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:164783161C>T	ENST00000264382.3	-	7	757	c.695G>A	c.(694-696)cGt>cAt	p.R232H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	232	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACTTGGAAGACGGGTTGAGAT	0.353										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(694-696)CGT>CAT		sucrase-isomaltase	Acarbose(DB00284)						61.0	60.0	61.0					3																	164783161		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164783161C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.695G>A	3.37:g.164783161C>T	ENSP00000264382:p.Arg232His	HNSCC(35;0.089)					p.R232H	NM_001041	NP_001032	P14410	SUIS_HUMAN			7	757	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	232			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.695G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712474	0.30322	.	.	ENSG00000090402	ENST00000264382	D	0.85773	-2.03	5.9	-3.78	0.04333	Glycoside hydrolase-type carbohydrate-binding (1);	0.273005	0.44285	D	0.000465	T	0.80894	0.4711	M	0.70903	2.155	0.33462	D	0.585136	B	0.25719	0.132	B	0.17433	0.018	T	0.71642	-0.4531	10	0.46703	T	0.11	.	14.6468	0.68767	0.0:0.2615:0.0:0.7385	.	232	P14410	SUIS_HUMAN	H	232	ENSP00000264382:R232H	ENSP00000264382:R232H	R	-	2	0	SI	166265855	0.010000	0.17322	0.536000	0.28039	0.249000	0.25844	-0.661000	0.05311	-0.634000	0.05538	-0.157000	0.13467	CGT		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	55	0	0	0	0	8	55				
SKIL	6498	broad.mit.edu	37	3	170099035	170099035	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:170099035G>C	ENST00000458537.3	+	2	1811	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	SKIL_ENST00000426052.2_Missense_Mutation_p.D348H|SKIL_ENST00000259119.4_Missense_Mutation_p.D368H|SKIL_ENST00000413427.2_Missense_Mutation_p.D368H	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	368					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCTGCAGACAGATGCACCATC	0.403																																						uc003fgu.2		NA																	0				ovary(2)|skin(1)	3						c.(1102-1104)GAT>CAT		SKI-like isoform 1							141.0	135.0	137.0					3																	170099035		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170099035G>C	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1102G>C	3.37:g.170099035G>C	ENSP00000415243:p.Asp368His					SKIL_uc011bps.1_Missense_Mutation_p.D348H|SKIL_uc003fgv.2_Missense_Mutation_p.D368H|SKIL_uc003fgw.2_Missense_Mutation_p.D368H	p.D368H	NM_005414	NP_005405	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		3	1814	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		368					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.1102G>C	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	g	9.207	1.029896	0.19512	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.91407	-2.84;-2.83;-2.83;-2.84	5.92	5.05	0.67936	.	0.962393	0.08725	N	0.902885	D	0.91610	0.7349	M	0.61703	1.905	0.29884	N	0.825781	B;B	0.30146	0.27;0.0	B;B	0.40940	0.344;0.001	D	0.85570	0.1233	10	0.37606	T	0.19	-0.6791	12.2136	0.54394	0.0:0.1297:0.7351:0.1351	.	368;368	P12757-3;P12757	.;SKIL_HUMAN	H	368;348;368;368	ENSP00000259119:D368H;ENSP00000406520:D348H;ENSP00000400193:D368H;ENSP00000415243:D368H	ENSP00000259119:D368H	D	+	1	0	SKIL	171581729	1.000000	0.71417	0.976000	0.42696	0.105000	0.19272	4.746000	0.62133	1.522000	0.49001	-0.127000	0.14921	GAT		0.403	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		9	145	0	0	0	0	9	145				
PIK3CA	5290	broad.mit.edu	37	3	178916836	178916836	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:178916836C>G	ENST00000263967.3	+	2	380	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	75	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q75E(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAGTGTTACTCAAGAAGCAGA	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1	Substitution - Missense(1)	p.Q75E(1)	central_nervous_system(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(223-225)CAA>GAA		phosphoinositide-3-kinase, catalytic, alpha							101.0	96.0	97.0					3																	178916836		1816	4084	5900	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916836C>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.223C>G	3.37:g.178916836C>G	ENSP00000263967:p.Gln75Glu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q75E	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	380	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		75			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.223C>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182300	0.78677	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.72942	-0.7;-0.7	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	M	0.62723	1.935	0.80722	D	1	P	0.49447	0.924	P	0.49252	0.604	T	0.75673	-0.3236	9	.	.	.	-0.0534	19.2635	0.93977	0.0:1.0:0.0:0.0	.	75	P42336	PK3CA_HUMAN	E	75	ENSP00000263967:Q75E;ENSP00000417479:Q75E	.	Q	+	1	0	PIK3CA	180399530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.436000	0.80404	2.547000	0.85894	0.555000	0.69702	CAA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			49	134	0	0	0	0	49	134				
EPHB3	2049	broad.mit.edu	37	3	184295735	184295735	+	Silent	SNP	C	C	T	rs369634339		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:184295735C>T	ENST00000330394.2	+	8	2141	c.1689C>T	c.(1687-1689)tcC>tcT	p.S563S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	563					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCGTGGGCTCCGCTACAGCTG	0.642																																						uc003foz.2		NA																	0				lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1687-1689)TCC>TCT		ephrin receptor EphB3 precursor		C		1,4405	2.1+/-5.4	0,1,2202	119.0	111.0	113.0		1689	-10.1	0.2	3		113	0,8600		0,0,4300	no	coding-synonymous	EPHB3	NM_004443.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		563/999	184295735	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184295735C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1689C>T	3.37:g.184295735C>T							p.S563S	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		8	2126	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		563			Helical; (Potential).		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.1689C>T	CCDS3268.1																																																																																				0.642	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		12	93	0	0	0	0	12	93				
ETV5	2119	broad.mit.edu	37	3	185774946	185774946	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:185774946G>A	ENST00000306376.5	-	11	1373	c.1127C>T	c.(1126-1128)aCc>aTc	p.T376I	ETV5_ENST00000434744.1_Missense_Mutation_p.T376I|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.T418I	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	376					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATCAAGAAGGGTGACCAGGAA	0.552			T	"""TMPRSS2, SCL45A3"""	Prostate																																	uc003fpz.2		NA		Dom	yes		3	3q28	2119	T	ets variant gene 5			E	TMPRSS2|SCL45A3		Prostate 		0				ovary(2)|skin(2)|breast(1)	5						c.(1126-1128)ACC>ATC		ets variant gene 5 (ets-related molecule)							108.0	108.0	108.0					3																	185774946		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185774946G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1127C>T	3.37:g.185774946G>A	ENSP00000306894:p.Thr376Ile					ETV5_uc003fpy.2_Missense_Mutation_p.T418I	p.T376I	NM_004454	NP_004445	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		11	1374	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		376			ETS.		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.1127C>T	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991909	0.93106	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.55413	0.52;0.52;0.52	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	L	0.53249	1.67	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.74348	0.98;0.983	T	0.70960	-0.4730	10	0.87932	D	0	.	18.5905	0.91210	0.0:0.0:1.0:0.0	.	376;418	P41161;B7Z7D7	ETV5_HUMAN;.	I	376;376;418	ENSP00000306894:T376I;ENSP00000413755:T376I;ENSP00000441737:T418I	ENSP00000306894:T376I	T	-	2	0	ETV5	187257640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.691000	0.91804	0.655000	0.94253	ACC		0.552	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		22	73	0	0	0	0	22	73				
CTBP1	1487	broad.mit.edu	37	4	1222118	1222119	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:1222118_1222119GC>AA	ENST00000290921.6	-	3	389_390	c.208_209GC>TT	c.(208-210)GCt>TTt	p.A70F	CTBP1_ENST00000382952.3_Missense_Mutation_p.A59F	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	70	Interaction with GLIS2 1. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGCCCCCACAGCCTCGTTCAGG	0.619																																						uc003gcv.1		NA																	0				ovary(1)	1						c.(208-210)GCT>TTT		C-terminal binding protein 1 isoform 1																																				SO:0001583	missense	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1222118_1222119GC>AA	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.208_209delinsAA	4.37:g.1222118_1222119delinsAA	ENSP00000290921:p.Ala70Phe					CTBP1_uc003gct.1_Missense_Mutation_p.A51F|CTBP1_uc003gcu.1_Missense_Mutation_p.A59F	p.A70F	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	3	373_374	-			70			Interaction with GLIS2 1 (By similarity).		Q4W5N3|Q7Z2Q5	Missense_Mutation	DNP	ENST00000290921.6	37	c.208_209GC>TT	CCDS3348.1																																																																																				0.619	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		7	54	0	0	0	0	7	54				
ADD1	118	broad.mit.edu	37	4	2883674	2883674	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:2883674G>A	ENST00000398129.1	+	2	265	c.245G>A	c.(244-246)gGg>gAg	p.G82E	ADD1_ENST00000264758.7_Missense_Mutation_p.G82E|ADD1_ENST00000513328.2_Missense_Mutation_p.G82E|ADD1_ENST00000355842.3_Missense_Mutation_p.G82E|ADD1_ENST00000446856.1_Missense_Mutation_p.G82E|ADD1_ENST00000398125.1_Missense_Mutation_p.G82E|ADD1_ENST00000503455.2_Missense_Mutation_p.G82E|ADD1_ENST00000398123.2_Missense_Mutation_p.G82E			P35611	ADDA_HUMAN	adducin 1 (alpha)	82					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTAAGAAGGGGAAGAACCCC	0.408																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	uc003gfr.2		NA																	0				ovary(1)	1						c.(244-246)GGG>GAG		adducin 1 (alpha) isoform a							99.0	95.0	97.0					4																	2883674		2203	4300	6503	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2883674G>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.245G>A	4.37:g.2883674G>A	ENSP00000381197:p.Gly82Glu					ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.G82E|ADD1_uc003gfo.2_Missense_Mutation_p.G82E|ADD1_uc003gfp.2_Missense_Mutation_p.G82E|ADD1_uc003gfq.2_Missense_Mutation_p.G82E|ADD1_uc003gfs.2_Missense_Mutation_p.G82E|ADD1_uc003gft.3_Missense_Mutation_p.G82E	p.G82E	NM_001119	NP_001110	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	433	+			82					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.245G>A	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833024	0.91036	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.994;1.0;0.989	D;D;D;D;D;D;P	0.97110	0.997;0.992;1.0;0.998;0.944;1.0;0.882	T	0.60480	-0.7255	10	0.62326	D	0.03	-32.9637	18.8094	0.92052	0.0:0.0:1.0:0.0	.	82;82;82;82;82;82;82	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	E	82	ENSP00000264758:G82E;ENSP00000399828:G82E;ENSP00000381193:G82E;ENSP00000421918:G82E;ENSP00000421907:G82E;ENSP00000423024:G82E;ENSP00000348100:G82E;ENSP00000381191:G82E;ENSP00000381197:G82E	ENSP00000264758:G82E	G	+	2	0	ADD1	2853472	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.259000	0.95561	2.690000	0.91761	0.491000	0.48974	GGG		0.408	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		10	74	0	0	0	0	10	74				
NKX3-2	579	broad.mit.edu	37	4	13545814	13545814	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:13545814G>A	ENST00000382438.5	-	1	860	c.225C>T	c.(223-225)gcC>gcT	p.A75A	AC006445.8_ENST00000501050.1_lincRNA	NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	75					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TTCTGGTACCGGCAGGAGACG	0.731																																						uc003gmx.2		NA																	0					0						c.(223-225)GCC>GCT		NK3 homeobox 2							10.0	13.0	12.0					4																	13545814		1887	3888	5775	SO:0001819	synonymous_variant	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13545814G>A	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.225C>T	4.37:g.13545814G>A							p.A75A	NM_001189	NP_001180	P78367	NKX32_HUMAN			1	301	-			75					Q2M2I7	Silent	SNP	ENST00000382438.5	37	c.225C>T	CCDS3410.1																																																																																				0.731	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			5	5	0	0	0	0	5	5				
HSD17B13	345275	broad.mit.edu	37	4	88243866	88243866	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:88243866C>G	ENST00000328546.4	-	1	192	c.128G>C	c.(127-129)gGa>gCa	p.G43A	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Missense_Mutation_p.G43A	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	43						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ATGCCCAGCTCCAGTAATGAG	0.423																																						uc003hqo.2		NA																	0					0						c.(127-129)GGA>GCA		hydroxysteroid (17-beta) dehydrogenase 13							100.0	102.0	102.0					4																	88243866		2203	4300	6503	SO:0001583	missense	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88243866C>G		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.128G>C	4.37:g.88243866C>G	ENSP00000333300:p.Gly43Ala					HSD17B13_uc010ikk.2_Missense_Mutation_p.G43A	p.G43A	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	1	191	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	43			NAD (By similarity).		A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	c.128G>C	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329796	0.60743	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.99722	-6.53;-6.53	4.81	4.81	0.61882	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000005	D	0.99843	0.9928	H	0.97415	4	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96557	0.9412	10	0.87932	D	0	.	17.6856	0.88255	0.0:1.0:0.0:0.0	.	43;43	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	A	43	ENSP00000305438:G43A;ENSP00000333300:G43A	ENSP00000305438:G43A	G	-	2	0	HSD17B13	88462890	0.999000	0.42202	0.997000	0.53966	0.255000	0.26057	6.192000	0.72069	2.484000	0.83849	0.585000	0.79938	GGA		0.423	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	NM_178135		9	98	0	0	0	0	9	98				
BANK1	55024	broad.mit.edu	37	4	102984276	102984276	+	Silent	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:102984276A>G	ENST00000322953.4	+	13	2467	c.2193A>G	c.(2191-2193)ccA>ccG	p.P731P	BANK1_ENST00000504592.1_Silent_p.P716P|BANK1_ENST00000508653.1_Silent_p.P598P|BANK1_ENST00000444316.2_Silent_p.P701P|BANK1_ENST00000428908.1_Silent_p.P598P	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	731					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GGAAAAGGCCAGAAGAAGAAA	0.358																																						uc003hvy.3		NA																	0				ovary(2)|skin(1)	3						c.(2191-2193)CCA>CCG		B-cell scaffold protein with ankyrin repeats 1							100.0	102.0	101.0					4																	102984276		2203	4300	6503	SO:0001819	synonymous_variant	55024				B cell activation			g.chr4:102984276A>G	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2193A>G	4.37:g.102984276A>G						BANK1_uc003hvx.3_Silent_p.P716P|BANK1_uc010ill.2_Silent_p.P598P|BANK1_uc003hvz.3_Silent_p.P701P	p.P731P	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	13	2467	+		Hepatocellular(203;0.217)	731					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	c.2193A>G	CCDS34038.1																																																																																				0.358	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		6	34	0	0	0	0	6	34				
GSTCD	79807	broad.mit.edu	37	4	106638773	106638773	+	Start_Codon_SNP	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:106638773G>A	ENST00000515279.1	+	2	223	c.3G>A	c.(1-3)atG>atA	p.M1I	GSTCD_ENST00000394728.3_Start_Codon_SNP_p.M1I|GSTCD_ENST00000394730.3_Start_Codon_SNP_p.M1I|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000360505.5_Start_Codon_SNP_p.M1I|GSTCD_ENST00000507281.1_Start_Codon_SNP_p.M1I			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	1						extracellular vesicular exosome (GO:0070062)		p.M1I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AGAAGAAAATGAAAGCCATAA	0.313																																						uc003hxz.3		NA																	1	Substitution - Missense(1)		skin(1)	breast(1)|central_nervous_system(1)	2						c.(1-3)ATG>ATA		glutathione S-transferase, C-terminal domain							64.0	67.0	66.0					4																	106638773		2202	4300	6502	SO:0001582	initiator_codon_variant	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106638773G>A	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.3G>A	4.37:g.106638773G>A	ENSP00000422354:p.Met1Ile					GSTCD_uc003hxx.2_Missense_Mutation_p.M1I|GSTCD_uc003hxy.3_Missense_Mutation_p.M1I|GSTCD_uc011cfb.1_Intron|GSTCD_uc010ils.1_Missense_Mutation_p.M1I	p.M1I	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	2	75	+		Hepatocellular(203;0.217)	1					A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	c.3G>A	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141319	0.57044	.	.	ENSG00000138780	ENST00000512828;ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.91	5.91	0.95273	.	0.247105	0.43919	D	0.000508	T	0.56992	0.2023	.	.	.	0.80722	D	1	B;P	0.44281	0.384;0.831	B;B	0.43052	0.088;0.406	T	0.61826	-0.6983	8	0.87932	D	0	-16.2387	13.498	0.61436	0.0711:0.0:0.9289:0.0	.	1;1	Q8NEC7;D6RCC9	GSTCD_HUMAN;.	I	1	.	ENSP00000353695:M1I	M	+	3	0	GSTCD	106858222	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	3.824000	0.55723	2.814000	0.96858	0.650000	0.86243	ATG		0.313	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751	Missense_Mutation	7	34	0	0	0	0	7	34				
SCLT1	132320	broad.mit.edu	37	4	129886441	129886441	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:129886441C>T	ENST00000281142.5	-	11	1313	c.810G>A	c.(808-810)gaG>gaA	p.E270E	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	270					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTGATGCTTCCTCTCTTCCAT	0.343																																						uc003igp.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(808-810)GAG>GAA		sodium channel associated protein 1							112.0	114.0	113.0					4																	129886441		2203	4300	6503	SO:0001819	synonymous_variant	132320					centrosome		g.chr4:129886441C>T	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.810G>A	4.37:g.129886441C>T						SCLT1_uc003ign.2_Intron|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	p.E270E	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			11	1316	-			270			Potential.		A4QN04|Q0VAH2|Q6P2M4	Silent	SNP	ENST00000281142.5	37	c.810G>A	CCDS3740.1																																																																																				0.343	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		9	29	0	0	0	0	9	29				
SH3RF1	57630	broad.mit.edu	37	4	170028206	170028206	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:170028206C>T	ENST00000284637.9	-	11	2631	c.2290G>A	c.(2290-2292)Gga>Aga	p.G764R		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	764					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGGCCACCTCCTGGTGGCAGT	0.672																																						uc003isa.1		NA																	0				breast(2)|lung(1)	3						c.(2290-2292)GGA>AGA		SH3 domain containing ring finger 1							27.0	28.0	28.0					4																	170028206		2202	4300	6502	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170028206C>T	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2290G>A	4.37:g.170028206C>T	ENSP00000284637:p.Gly764Arg						p.G764R	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	11	2625	-		Prostate(90;0.00267)|Renal(120;0.0183)	764					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.2290G>A	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	C	3.615	-0.078682	0.07141	.	.	ENSG00000154447	ENST00000284637	T	0.11930	2.73	5.58	5.58	0.84498	.	0.403847	0.29956	N	0.010779	T	0.10766	0.0263	L	0.36672	1.1	0.09310	N	1	P	0.37864	0.61	B	0.33690	0.168	T	0.28902	-1.0029	10	0.15952	T	0.53	-4.0523	13.8045	0.63223	0.0:0.9269:0.0:0.0731	.	764	Q7Z6J0	SH3R1_HUMAN	R	764	ENSP00000284637:G764R	ENSP00000284637:G764R	G	-	1	0	SH3RF1	170264781	0.061000	0.20836	0.008000	0.14137	0.005000	0.04900	1.536000	0.36072	2.642000	0.89623	0.655000	0.94253	GGA		0.672	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		9	21	0	0	0	0	9	21				
ICE1	23379	broad.mit.edu	37	5	5461296	5461296	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:5461296G>A	ENST00000296564.7	+	13	2071	c.1849G>A	c.(1849-1851)Gat>Aat	p.D617N		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		617					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGACTCAGGTGATGGAATGGA	0.418																																						uc003jdm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1849-1851)GAT>AAT		hypothetical protein LOC23379							108.0	108.0	108.0					5																	5461296		1911	4127	6038	SO:0001583	missense	23379							g.chr5:5461296G>A																												ENST00000296564.7:c.1849G>A	5.37:g.5461296G>A	ENSP00000296564:p.Asp617Asn						p.D617N	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	2071	+			617					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.1849G>A	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	8.907	0.957759	0.18507	.	.	ENSG00000164151	ENST00000296564	T	0.09817	2.94	4.82	-3.36	0.04913	.	1.855850	0.02677	N	0.109283	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B	0.32160	0.358	B	0.24269	0.052	T	0.29941	-0.9995	10	0.42905	T	0.14	-0.4058	3.8426	0.08920	0.1106:0.5017:0.1884:0.1994	.	617	Q9Y2F5	K0947_HUMAN	N	617	ENSP00000296564:D617N	ENSP00000296564:D617N	D	+	1	0	KIAA0947	5514296	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.007000	0.12810	-0.260000	0.09418	0.305000	0.20034	GAT		0.418	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			25	49	0	0	0	0	25	49				
PAPD7	11044	broad.mit.edu	37	5	6749698	6749698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:6749698C>T	ENST00000230859.6	+	9	994	c.865C>T	c.(865-867)Cag>Tag	p.Q289*		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	519					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAAAGTAACTCAGGAGGTGAT	0.488																																					NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1		NA																	0				ovary(1)	1						c.(865-867)CAG>TAG		DNA polymerase sigma							160.0	166.0	164.0					5																	6749698		2203	4300	6503	SO:0001587	stop_gained	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6749698C>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.865C>T	5.37:g.6749698C>T	ENSP00000230859:p.Gln289*					PAPD7_uc011cmn.1_Nonsense_Mutation_p.Q280*|PAPD7_uc010itl.1_Nonsense_Mutation_p.Q109*	p.Q289*	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			9	994	+			289					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Nonsense_Mutation	SNP	ENST00000230859.6	37	c.865C>T	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	38	7.199754	0.98129	.	.	ENSG00000112941	ENST00000230859	.	.	.	5.61	5.61	0.85477	.	0.110768	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-13.974	19.5968	0.95544	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	ENSP00000230859:Q289X	Q	+	1	0	PAPD7	6802698	0.994000	0.37717	0.994000	0.49952	0.899000	0.52679	3.199000	0.51043	2.793000	0.96121	0.655000	0.94253	CAG		0.488	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		20	138	0	0	0	0	20	138				
DNAH5	1767	broad.mit.edu	37	5	13737360	13737360	+	Splice_Site	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:13737360C>A	ENST00000265104.4	-	66	11560		c.e66+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCAAACTCACCAGGTCTGTA	0.403									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.e66+1		dynein, axonemal, heavy chain 5							108.0	111.0	110.0					5																	13737360		2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13737360C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11455+1G>T	5.37:g.13737360C>A						DNAH5_uc003jfc.2_Intron	p.V3819_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			66	11497	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	c.11455_splice	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634875	0.87760	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2675	0.93996	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13790360	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.764000	0.85297	2.573000	0.86826	0.655000	0.94253	.		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	31	83	1	0	2.2e-25	2.59e-25	31	83				
DNAH5	1767	broad.mit.edu	37	5	13850873	13850873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:13850873G>A	ENST00000265104.4	-	31	5106	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1668	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATGTGCCCGAGTCATGATC	0.468									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5002-5004)CGG>TGG		dynein, axonemal, heavy chain 5							104.0	102.0	103.0					5																	13850873		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13850873G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5002C>T	5.37:g.13850873G>A	ENSP00000265104:p.Arg1668Trp						p.R1668W	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			31	5044	-	Lung NSC(4;0.00476)		1668			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5002C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770260	0.90108	.	.	ENSG00000039139	ENST00000265104	T	0.62232	0.04	5.75	5.75	0.90469	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89018	0.3433	10	0.87932	D	0	.	15.5399	0.76035	0.0:0.0:0.8614:0.1386	.	1668	Q8TE73	DYH5_HUMAN	W	1668	ENSP00000265104:R1668W	ENSP00000265104:R1668W	R	-	1	2	DNAH5	13903873	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.637000	0.83313	2.711000	0.92665	0.591000	0.81541	CGG		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		17	79	0	0	0	0	17	79				
PRDM9	56979	broad.mit.edu	37	5	23526576	23526577	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:23526576_23526577CC>AA	ENST00000296682.3	+	11	1561_1562	c.1379_1380CC>AA	c.(1378-1380)tCC>tAA	p.S460*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	460					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGAAAGGTCCAAACTCTTGA	0.465										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1378-1380)TCC>TAA		PR domain containing 9																																				SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526576_23526577CC>AA	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	Exception_encountered	5.37:g.23526576_23526577delinsAA	ENSP00000296682:p.Ser460*	HNSCC(3;0.000094)					p.S460*	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1561_1562	+			460					B4DX22|Q27Q50	Nonsense_Mutation	DNP	ENST00000296682.3	37	c.1379_1380CC>AA	CCDS43307.1																																																																																				0.465	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		4	21	0	0	0	0	4	21				
TTC23L	153657	broad.mit.edu	37	5	34863073	34863073	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:34863073G>A	ENST00000505624.1	+	5	553	c.450G>A	c.(448-450)acG>acA	p.T150T	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	150			T -> M (in dbSNP:rs34566695).					p.T150T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGGCAAATACGACCTCAAATA	0.512																																						uc003jiu.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	central_nervous_system(1)	1						c.(448-450)ACG>ACA		tetratricopeptide repeat domain 23-like							114.0	112.0	113.0					5																	34863073		1986	4160	6146	SO:0001819	synonymous_variant	153657						binding	g.chr5:34863073G>A		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.450G>A	5.37:g.34863073G>A						TTC23L_uc003jiv.2_5'Flank|TTC23L_uc010iut.1_5'Flank	p.T150T	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN			5	553	+			150					Q6RGS4|Q8N7R3|Q96LJ2	Silent	SNP	ENST00000505624.1	37	c.450G>A	CCDS54840.1																																																																																				0.512	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		14	38	0	0	0	0	14	38				
PRLR	5618	broad.mit.edu	37	5	35070259	35070259	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:35070259A>C	ENST00000382002.5	-	7	1078	c.652T>G	c.(652-654)Tgg>Ggg	p.W218G	PRLR_ENST00000397391.3_Missense_Mutation_p.W147G|PRLR_ENST00000511486.1_Missense_Mutation_p.W117G|PRLR_ENST00000310101.5_Missense_Mutation_p.W218G|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.W218G|PRLR_ENST00000348262.3_Missense_Mutation_p.W218G|PRLR_ENST00000542609.1_Missense_Mutation_p.W218G|PRLR_ENST00000342362.5_Missense_Mutation_p.W117G|PRLR_ENST00000231423.3_Missense_Mutation_p.W218G	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	218	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GCTGGACTCCATGCACTCCAG	0.433																																						uc003jjm.2		NA																	0				ovary(2)|skin(1)	3						c.(652-654)TGG>GGG		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						116.0	97.0	104.0					5																	35070259		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35070259A>C		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.652T>G	5.37:g.35070259A>C	ENSP00000371432:p.Trp218Gly					PRLR_uc003jjg.1_Missense_Mutation_p.W218G|PRLR_uc003jjh.1_Missense_Mutation_p.W218G|PRLR_uc003jji.1_Missense_Mutation_p.W147G|PRLR_uc003jjj.1_Missense_Mutation_p.W218G|PRLR_uc003jjk.1_Missense_Mutation_p.W147G|PRLR_uc003jjl.3_Missense_Mutation_p.W117G|PRLR_uc010iuw.1_Missense_Mutation_p.W147G	p.W218G	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		7	1182	-	all_lung(31;3.83e-05)		218			Fibronectin type-III 2.|WSXWS motif.|Extracellular (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.652T>G	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.711146	0.48517	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.65	5.65	0.86999	Fibronectin, type III (2);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70996	0.3288	M	0.94142	3.5	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999;0.999;0.999	T	0.80412	-0.1393	10	0.87932	D	0	-7.7002	15.882	0.79211	1.0:0.0:0.0:0.0	.	218;218;117;147;218;218;218	P16471-3;P16471;P16471-2;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.;.	G	218;218;218;147;218;117;218;117;218	ENSP00000231423:W218G;ENSP00000424841:W218G;ENSP00000311613:W218G;ENSP00000380546:W147G;ENSP00000441813:W218G;ENSP00000339213:W117G;ENSP00000371432:W218G;ENSP00000422556:W117G;ENSP00000309008:W218G	ENSP00000231423:W218G	W	-	1	0	PRLR	35106016	1.000000	0.71417	0.915000	0.36163	0.008000	0.06430	8.477000	0.90424	2.155000	0.67459	0.533000	0.62120	TGG		0.433	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			12	25	0	0	0	0	12	25				
C5orf42	65250	broad.mit.edu	37	5	37157808	37157808	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:37157808T>C	ENST00000508244.1	-	39	8014	c.7921A>G	c.(7921-7923)Act>Gct	p.T2641A	C5orf42_ENST00000425232.2_Missense_Mutation_p.T2641A|C5orf42_ENST00000274258.7_Missense_Mutation_p.T1539A			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2641						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACAGCATTAGTAACTGAAGCT	0.328																																						uc011cpa.1		NA																	0				ovary(4)|breast(2)|skin(1)	7						c.(7921-7923)ACT>GCT		hypothetical protein LOC65250							88.0	84.0	85.0					5																	37157808		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37157808T>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7921A>G	5.37:g.37157808T>C	ENSP00000421690:p.Thr2641Ala					C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.T1159A|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.T1734A	p.T2641A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		40	8152	-	all_lung(31;0.000616)		2641					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.7921A>G	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	12.10	1.837712	0.32513	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.28666	1.6;1.6;1.64;1.65	5.43	1.67	0.24075	.	0.403945	0.21431	N	0.074643	T	0.19644	0.0472	L	0.46157	1.445	0.23537	N	0.997468	B;P	0.35793	0.275;0.521	B;B	0.30105	0.067;0.111	T	0.12041	-1.0563	10	0.37606	T	0.19	.	4.2537	0.10707	0.1476:0.1615:0.0:0.6909	.	2641;1539	E9PH94;Q9H799	.;CE042_HUMAN	A	2641;2641;1539;1707;1539	ENSP00000421690:T2641A;ENSP00000389014:T2641A;ENSP00000274258:T1539A;ENSP00000424223:T1707A	ENSP00000274258:T1539A	T	-	1	0	C5orf42	37193565	0.791000	0.28800	0.055000	0.19348	0.974000	0.67602	1.362000	0.34148	0.044000	0.15775	0.459000	0.35465	ACT		0.328	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		25	41	0	0	0	0	25	41				
WDR70	55100	broad.mit.edu	37	5	37379491	37379491	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:37379491G>A	ENST00000265107.4	+	1	178	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	WDR70_ENST00000504564.1_Missense_Mutation_p.E8K	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	8							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGCCCAGCGAAGGTGGGTT	0.642																																						uc003jkv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(22-24)GAA>AAA		WD repeat domain 70							68.0	82.0	77.0					5																	37379491		2202	4300	6502	SO:0001583	missense	55100							g.chr5:37379491G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.22G>A	5.37:g.37379491G>A	ENSP00000265107:p.Glu8Lys					WDR70_uc010iva.1_Missense_Mutation_p.E8K	p.E8K	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	80	+	all_lung(31;0.000285)		8					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.22G>A	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259275	0.39995	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.86030	-0.22;-2.06	4.07	4.07	0.47477	.	0.899143	0.09214	U	0.832803	T	0.74589	0.3736	N	0.22421	0.69	0.37157	D	0.902421	B;B	0.27068	0.167;0.001	B;B	0.15052	0.012;0.0	T	0.72567	-0.4254	10	0.52906	T	0.07	-5.0159	7.8749	0.29589	0.113:0.0:0.887:0.0	.	8;8	D6RIW8;Q9NW82	.;WDR70_HUMAN	K	8	ENSP00000265107:E8K;ENSP00000425841:E8K	ENSP00000265107:E8K	E	+	1	0	WDR70	37415248	0.998000	0.40836	1.000000	0.80357	0.504000	0.33889	1.983000	0.40648	2.273000	0.75805	0.557000	0.71058	GAA		0.642	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		49	123	0	0	0	0	49	123				
CARD6	84674	broad.mit.edu	37	5	40854255	40854255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:40854255C>G	ENST00000254691.5	+	3	3020	c.2821C>G	c.(2821-2823)Cag>Gag	p.Q941E	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	941					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAAGAGCTCTCAGTTCAAATC	0.493																																						uc003jmg.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(2821-2823)CAG>GAG		caspase recruitment domain family, member 6							169.0	185.0	180.0					5																	40854255		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854255C>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2821C>G	5.37:g.40854255C>G	ENSP00000254691:p.Gln941Glu						p.Q941E	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	2896	+			941					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2821C>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	9.422	1.083388	0.20309	.	.	ENSG00000132357	ENST00000254691	T	0.14391	2.51	4.6	4.6	0.57074	.	0.329901	0.22183	N	0.063468	T	0.16471	0.0396	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	P	0.53689	0.732	T	0.02126	-1.1209	10	0.27785	T	0.31	-7.3618	13.1053	0.59244	0.0:1.0:0.0:0.0	.	941	Q9BX69	CARD6_HUMAN	E	941	ENSP00000254691:Q941E	ENSP00000254691:Q941E	Q	+	1	0	CARD6	40890012	0.306000	0.24490	0.540000	0.28089	0.067000	0.16453	2.770000	0.47662	2.550000	0.86006	0.313000	0.20887	CAG		0.493	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			23	145	0	0	0	0	23	145				
VCAN	1462	broad.mit.edu	37	5	82832967	82832967	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:82832967A>T	ENST00000265077.3	+	8	4710	c.4145A>T	c.(4144-4146)gAc>gTc	p.D1382V	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D395V|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1382	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATTGAAATAGACCTATACCAC	0.383																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(4144-4146)GAC>GTC		versican isoform 1 precursor							59.0	62.0	61.0					5																	82832967		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82832967A>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4145A>T	5.37:g.82832967A>T	ENSP00000265077:p.Asp1382Val					VCAN_uc003kij.3_Missense_Mutation_p.D395V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.D46V	p.D1382V	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	4501	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1382			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.4145A>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	7.134	0.580475	0.13686	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.86230	-2.09;-2.01;3.13	5.96	-1.35	0.09114	.	1.269630	0.05200	N	0.504660	T	0.80325	0.4602	L	0.34521	1.04	0.09310	N	1	B;B	0.22983	0.078;0.047	B;B	0.29785	0.107;0.05	T	0.66563	-0.5892	10	0.56958	D	0.05	.	4.0627	0.09846	0.3818:0.3978:0.1215:0.0989	.	395;1382	P13611-2;P13611	.;CSPG2_HUMAN	V	1382;395;395	ENSP00000265077:D1382V;ENSP00000340062:D395V;ENSP00000426251:D395V	ENSP00000265077:D1382V	D	+	2	0	VCAN	82868723	0.135000	0.22499	0.000000	0.03702	0.048000	0.14542	0.743000	0.26231	-0.103000	0.12175	-0.297000	0.09499	GAC		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		7	25	0	0	0	0	7	25				
GPR98	84059	broad.mit.edu	37	5	89924449	89924449	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:89924449C>G	ENST00000405460.2	+	8	1405	c.1309C>G	c.(1309-1311)Cgg>Ggg	p.R437G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	437	Calx-beta 4. {ECO:0000305|PubMed:11606593}.			LTR -> VTP (in Ref. 2; AAL30811). {ECO:0000305}.	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTGTTGACACGGAACAGCAC	0.423																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(1309-1311)CGG>GGG		G protein-coupled receptor 98 precursor							127.0	124.0	125.0					5																	89924449		1954	4146	6100	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89924449C>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1309C>G	5.37:g.89924449C>G	ENSP00000384582:p.Arg437Gly					GPR98_uc003kjt.2_5'UTR	p.R437G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	8	1405	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	437	LTR -> VTP (in Ref. 2; AAL30811).		Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.1309C>G	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.46|17.46	3.394348|3.394348	0.62066|0.62066	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|T	0.25085|0.27890	1.82|1.64	5.72|5.72	3.9|3.9	0.45041|0.45041	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47229|0.47229	0.1434|0.1434	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.39035|0.39035	-0.9633|-0.9633	10|7	0.46703|0.25106	T|T	0.11|0.35	.|.	14.0656|14.0656	0.64826|0.64826	0.417:0.583:0.0:0.0|0.417:0.583:0.0:0.0	.|.	437|.	Q8WXG9|.	GPR98_HUMAN|.	G|R	437|25	ENSP00000384582:R437G|ENSP00000424736:T25R	ENSP00000296619:R437G|ENSP00000424736:T25R	R|T	+|+	1|2	2|0	GPR98|GPR98	89960205|89960205	0.646000|0.646000	0.27295|0.27295	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.316000|1.316000	0.33620|0.33620	0.819000|0.819000	0.34492|0.34492	0.650000|0.650000	0.86243|0.86243	CGG|ACG		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		22	24	0	0	0	0	22	24				
ZRSR1	7310	broad.mit.edu	37	5	112227799	112227799	+	Missense_Mutation	SNP	A	A	G	rs712665	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:112227799A>G	ENST00000391338.1	+	1	487	c.463A>G	c.(463-465)Agt>Ggt	p.S155G	REEP5_ENST00000504247.1_Intron|CTC-487M23.5_ENST00000602872.1_RNA|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	155						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						TTTAGAAAATAGTACCACATG	0.433													G|||	1884	0.376198	0.6831	0.2867	5008	,	,		20786	0.1815		0.3638	False		,,,				2504	0.2382					uc011cvv.1		NA																	0					0						c.(538-540)AGT>GGT		SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;																																				SO:0001583	missense	6728				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding	g.chr5:112227799A>G	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.463A>G	5.37:g.112227799A>G	ENSP00000375133:p.Ser155Gly					SRP19_uc011cvu.1_Missense_Mutation_p.S165G|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron	p.S180G			P09132	SRP19_HUMAN		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)	4	793	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	Error:Variant_position_missing_in_P09132_after_alignment					B2R901|Q13570|Q2M3R8	Missense_Mutation	SNP	ENST00000391338.1	37	c.538A>G		797	0.3649267399267399	315	0.6402439024390244	109	0.3011049723756906	109	0.19055944055944055	264	0.3482849604221636	G	2.141	-0.396859	0.04899	.	.	ENSG00000212643	ENST00000391338	.	.	.	2.31	2.31	0.28768	.	0.322273	0.37219	N	0.002193	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.47086	-0.9144	7	0.02654	T	1	.	7.0754	0.25201	0.154:0.0:0.846:0.0	rs712665;rs1619690;rs3733965;rs58992073;rs712665	155	Q15695	U2AFL_HUMAN	G	155	.	ENSP00000375133:S155G	S	+	1	0	ZRSR1	112255698	1.000000	0.71417	0.026000	0.17262	0.556000	0.35491	2.463000	0.45058	0.094000	0.17404	-0.349000	0.07799	AGT		0.433	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083		4	34	0	0	0	0	4	34				
PCDHA11	56138	broad.mit.edu	37	5	140250371	140250371	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:140250371G>A	ENST00000398640.2	+	1	1683	c.1683G>A	c.(1681-1683)gcG>gcA	p.A561A	PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCGCCGGCACTGC	0.682																																						uc003lia.2		NA																	0				breast(1)	1						c.(1681-1683)GCG>GCA		protocadherin alpha 11 isoform 1 precursor							86.0	95.0	92.0					5																	140250371		2203	4299	6502	SO:0001819	synonymous_variant	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250371G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1683G>A	5.37:g.140250371G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.A561A	p.A561A	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2541	+			561			Extracellular (Potential).|Cadherin 5.		B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1683G>A	CCDS47284.1																																																																																				0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		21	95	0	0	0	0	21	95				
PCDHB12	56124	broad.mit.edu	37	5	140590194	140590194	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:140590194G>T	ENST00000239450.2	+	1	1904	c.1715G>T	c.(1714-1716)tGc>tTc	p.C572F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.C235F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	572	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGCCCTGCACCGAGCTG	0.701																																						uc003liz.2		NA																	0				skin(2)|ovary(1)	3						c.(1714-1716)TGC>TTC		protocadherin beta 12 precursor							18.0	25.0	23.0					5																	140590194		2176	4261	6437	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590194G>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1715G>T	5.37:g.140590194G>T	ENSP00000239450:p.Cys572Phe					PCDHB12_uc011dak.1_Missense_Mutation_p.C235F	p.C572F	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1904	+			572			Extracellular (Potential).|Cadherin 6.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1715G>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	9.634	1.137235	0.21123	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.18810	2.19;2.19	3.4	2.49	0.30216	Cadherin-like (1);	.	.	.	.	T	0.16300	0.0392	N	0.20685	0.6	0.09310	N	1	P	0.52316	0.952	P	0.48598	0.583	T	0.09357	-1.0678	9	0.54805	T	0.06	.	4.9457	0.13987	0.2015:0.0:0.6305:0.168	.	572	Q9Y5F1	PCDBC_HUMAN	F	235;572;192	ENSP00000440199:C235F;ENSP00000239450:C572F	ENSP00000239450:C572F	C	+	2	0	PCDHB12	140570378	0.363000	0.24989	0.618000	0.29105	0.992000	0.81027	1.411000	0.34702	0.515000	0.28320	0.479000	0.44913	TGC		0.701	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		32	46	1	0	1.7e-12	1.94e-12	32	46				
CLINT1	9685	broad.mit.edu	37	5	157240172	157240172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:157240172G>A	ENST00000411809.2	-	5	620	c.416C>T	c.(415-417)gCc>gTc	p.A139V	CLINT1_ENST00000523908.1_Missense_Mutation_p.A139V|CLINT1_ENST00000296951.5_Missense_Mutation_p.A121V|CLINT1_ENST00000523094.1_Missense_Mutation_p.A121V|CLINT1_ENST00000530742.1_Missense_Mutation_p.A121V	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	139	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCATCCTGGGCAAATTCAAC	0.413																																					Colon(22;427 587 2170 6147 14291)	uc003lxj.1		NA																	0				ovary(2)|pancreas(1)	3						c.(415-417)GCC>GTC		epsin 4							194.0	185.0	188.0					5																	157240172		1900	4111	6011	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157240172G>A	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.416C>T	5.37:g.157240172G>A	ENSP00000388340:p.Ala139Val					CLINT1_uc003lxi.1_Missense_Mutation_p.A121V|CLINT1_uc011ddv.1_Missense_Mutation_p.A139V	p.A139V	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	606	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	139			ENTH.		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.416C>T	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521059	0.27211	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	6.03	6.03	0.97812	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.186045	0.51477	D	0.000100	T	0.11879	0.0289	N	0.00368	-1.59	0.37500	D	0.916733	B;B	0.13594	0.008;0.004	B;B	0.14023	0.01;0.01	T	0.27502	-1.0072	10	0.33141	T	0.24	-10.7138	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	139;139	B7Z6F8;Q14677	.;EPN4_HUMAN	V	121;121;139;121;139	ENSP00000429345:A121V;ENSP00000433419:A121V;ENSP00000388340:A139V;ENSP00000296951:A121V;ENSP00000429824:A139V	ENSP00000296951:A121V	A	-	2	0	CLINT1	157172750	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.270000	0.72563	2.861000	0.98227	0.655000	0.94253	GCC		0.413	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		13	45	0	0	0	0	13	45				
HIVEP1	3096	broad.mit.edu	37	6	12122522	12122522	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:12122522G>A	ENST00000379388.2	+	4	2826	c.2494G>A	c.(2494-2496)Gac>Aac	p.D832N		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	832					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACCTTCACTTGACTGTTTACC	0.428																																						uc003nac.2		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2494-2496)GAC>AAC		human immunodeficiency virus type I enhancer							151.0	140.0	144.0					6																	12122522		1897	4129	6026	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122522G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2494G>A	6.37:g.12122522G>A	ENSP00000368698:p.Asp832Asn					HIVEP1_uc011diq.1_RNA	p.D832N	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	2673	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	832					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2494G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138911	0.94560	.	.	ENSG00000095951	ENST00000379388	T	0.38722	1.12	6.01	6.01	0.97437	.	0.000000	0.38272	N	0.001759	T	0.65048	0.2654	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.64651	-0.6357	9	.	.	.	-31.5242	20.5211	0.99222	0.0:0.0:1.0:0.0	.	832	P15822	ZEP1_HUMAN	N	832	ENSP00000368698:D832N	.	D	+	1	0	HIVEP1	12230508	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GAC		0.428	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		7	127	0	0	0	0	7	127				
OR2W1	26692	broad.mit.edu	37	6	29012395	29012395	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:29012395C>T	ENST00000377175.1	-	1	622	c.558G>A	c.(556-558)aaG>aaA	p.K186K		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CACAAGCTATCTTGACCAGAG	0.403																																						uc003nlw.2		NA																	0				ovary(2)|skin(1)	3						c.(556-558)AAG>AAA		olfactory receptor, family 2, subfamily W,							130.0	128.0	128.0					6																	29012395		1511	2709	4220	SO:0001819	synonymous_variant	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012395C>T	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.558G>A	6.37:g.29012395C>T							p.K186K	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	558	-			186			Extracellular (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Silent	SNP	ENST00000377175.1	37	c.558G>A	CCDS4656.1																																																																																				0.403	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			8	96	0	0	0	0	8	96				
CYP21A1P	1590	broad.mit.edu	37	6	31975129	31975129	+	5'Flank	SNP	T	T	C	rs554092943	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:31975129T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							AAGAGGGCTCTGGACAGCTCC	0.607													T|||	512	0.102236	0.2307	0.0994	5008	,	,		16076	0.0149		0.0815	False		,,,				2504	0.0419					uc010jtp.2		NA																	0					0						c.(820-822)TCT>TCC		SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;																																				SO:0001631	upstream_gene_variant	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:31975129T>C																													6.37:g.31975129T>C	Exception_encountered					CYP21A2_uc011dpb.1_Silent_p.S244S	p.S274S			P08686	CP21A_HUMAN			8	940	+			273						Silent	SNP	ENST00000594256.1	37	c.822T>C																																																																																					0.607	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				8	97	0	0	0	0	8	97				
DEFB112	245915	broad.mit.edu	37	6	50011492	50011492	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:50011492G>A	ENST00000322246.4	-	2	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	46					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TACTAAAGGTGATATGGTGCC	0.403																																						uc011dws.1		NA																	0				central_nervous_system(1)	1						c.(136-138)ATC>ATT		beta-defensin 112 precursor							153.0	123.0	133.0					6																	50011492		2203	4300	6503	SO:0001819	synonymous_variant	245915				defense response to bacterium	extracellular region		g.chr6:50011492G>A	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.138C>T	6.37:g.50011492G>A							p.I46I	NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN			2	138	-	Lung NSC(77;0.042)		46					Q8NET0	Silent	SNP	ENST00000322246.4	37	c.138C>T	CCDS34476.1																																																																																				0.403	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		8	51	0	0	0	0	8	51				
PHF3	23469	broad.mit.edu	37	6	64394278	64394278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:64394278C>T	ENST00000262043.3	+	4	995	c.655C>T	c.(655-657)Cat>Tat	p.H219Y	PHF3_ENST00000509330.1_Missense_Mutation_p.H219Y|PHF3_ENST00000393387.1_Missense_Mutation_p.H219Y			Q92576	PHF3_HUMAN	PHD finger protein 3	219					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTCTTCAAGTCATTCTTCAGT	0.393																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(655-657)CAT>TAT		PHD finger protein 3							145.0	118.0	127.0					6																	64394278		2203	4299	6502	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394278C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.655C>T	6.37:g.64394278C>T	ENSP00000262043:p.His219Tyr					PHF3_uc010kaf.1_Missense_Mutation_p.H219Y|PHF3_uc003pem.2_Missense_Mutation_p.H172Y|PHF3_uc010kag.1_Missense_Mutation_p.H131Y|PHF3_uc010kah.1_Missense_Mutation_p.H33Y|PHF3_uc003pen.2_Missense_Mutation_p.H131Y|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.H219Y	p.H219Y	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	681	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		219					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.655C>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	8.057	0.767212	0.15983	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.44881	2.15;1.9;2.24;1.91;0.91;2.24	5.36	4.48	0.54585	.	0.202751	0.24662	N	0.036632	T	0.13841	0.0335	L	0.29908	0.895	0.24958	N	0.991744	B;P	0.45827	0.41;0.867	B;B	0.41988	0.205;0.372	T	0.04178	-1.0971	10	0.25106	T	0.35	-3.5323	8.3634	0.32372	0.2712:0.5769:0.1519:0.0	.	219;219	Q92576;D6R9X2	PHF3_HUMAN;.	Y	33;131;219;172;219;219	ENSP00000424694:H33Y;ENSP00000425227:H131Y;ENSP00000262043:H219Y;ENSP00000424078:H172Y;ENSP00000422841:H219Y;ENSP00000377048:H219Y	ENSP00000262043:H219Y	H	+	1	0	PHF3	64452237	0.060000	0.20803	0.989000	0.46669	0.915000	0.54546	0.298000	0.19120	1.218000	0.43458	0.650000	0.86243	CAT		0.393	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			23	89	0	0	0	0	23	89				
MDN1	23195	broad.mit.edu	37	6	90459426	90459426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:90459426C>T	ENST00000369393.3	-	25	3566	c.3451G>A	c.(3451-3453)Gat>Aat	p.D1151N	MDN1_ENST00000428876.1_Missense_Mutation_p.D1151N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1151					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTAATTCATCTAAAATAATC	0.353																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(3451-3453)GAT>AAT		MDN1, midasin homolog							82.0	83.0	83.0					6																	90459426		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90459426C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3451G>A	6.37:g.90459426C>T	ENSP00000358400:p.Asp1151Asn						p.D1151N	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	25	3567	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1151					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.3451G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499376	0.85069	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.74947	-0.89;-0.89;-0.89	5.61	5.61	0.85477	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92911	0.6347	10	0.87932	D	0	.	19.6394	0.95751	0.0:1.0:0.0:0.0	.	1151	Q9NU22	MDN1_HUMAN	N	1151;1151;1078	ENSP00000358400:D1151N;ENSP00000413970:D1151N;ENSP00000409664:D1078N	ENSP00000358400:D1151N	D	-	1	0	MDN1	90516147	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.205000	0.77881	2.637000	0.89404	0.655000	0.94253	GAT		0.353	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			22	42	0	0	0	0	22	42				
RFPL4B	442247	broad.mit.edu	37	6	112671570	112671570	+	Silent	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:112671570T>C	ENST00000441065.2	+	3	972	c.660T>C	c.(658-660)ttT>ttC	p.F220F	RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	220	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAATCCAGTTTTTTGATGTTG	0.458																																						uc003pvx.1		NA																	0					0						c.(658-660)TTT>TTC		ret finger protein-like 4B							66.0	62.0	63.0					6																	112671570		2203	4300	6503	SO:0001819	synonymous_variant	442247						zinc ion binding	g.chr6:112671570T>C	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.660T>C	6.37:g.112671570T>C							p.F220F	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	972	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	220			B30.2/SPRY.		A2RU91	Silent	SNP	ENST00000441065.2	37	c.660T>C	CCDS34515.1																																																																																				0.458	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		12	55	0	0	0	0	12	55				
PDE10A	10846	broad.mit.edu	37	6	165848793	165848793	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:165848793G>T	ENST00000366882.1	-	7	593	c.439C>A	c.(439-441)Cag>Aag	p.Q147K	PDE10A_ENST00000354448.4_Missense_Mutation_p.Q147K|PDE10A_ENST00000539869.2_Missense_Mutation_p.Q157K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	147	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTGGTGCCCTGAGTGATGGGC	0.483																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(439-441)CAG>AAG		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						153.0	136.0	142.0					6																	165848793		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165848793G>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.439C>A	6.37:g.165848793G>T	ENSP00000355847:p.Gln147Lys					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.Q77K|PDE10A_uc003quo.2_Missense_Mutation_p.Q157K	p.Q147K	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	7	680	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	147			GAF 1.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.439C>A		.	.	.	.	.	.	.	.	.	.	G	10.22	1.291062	0.23564	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.66638	-0.22;-0.22	5.48	4.62	0.57501	GAF (2);	0.571227	0.20118	N	0.098878	T	0.30448	0.0765	N	0.20685	0.6	0.22819	N	0.998695	B;B	0.17038	0.02;0.0	B;B	0.19666	0.026;0.004	T	0.11966	-1.0566	10	0.28530	T	0.3	.	10.8446	0.46737	0.1453:0.0:0.8547:0.0	.	157;147	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	147;175;157;147;146	ENSP00000355847:Q147K;ENSP00000346435:Q147K	ENSP00000341187:Q157K	Q	-	1	0	PDE10A	165768783	1.000000	0.71417	0.936000	0.37596	0.809000	0.45718	7.052000	0.76634	1.443000	0.47586	0.585000	0.79938	CAG		0.483	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			12	23	1	0	2.81e-09	3.18e-09	12	23				
CCT6A	908	broad.mit.edu	37	7	56130445	56130445	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:56130445C>G	ENST00000275603.4	+	13	1739	c.1520C>G	c.(1519-1521)tCc>tGc	p.S507C	SUMF2_ENST00000437307.2_5'Flank|SUMF2_ENST00000413756.1_5'Flank|SUMF2_ENST00000395435.2_5'Flank|SUMF2_ENST00000395436.2_5'Flank|CCT6A_ENST00000540286.1_Missense_Mutation_p.S476C|SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000335503.3_Missense_Mutation_p.S462C|CCT6A_ENST00000462133.1_3'UTR|SUMF2_ENST00000434526.2_5'Flank|SUMF2_ENST00000275607.9_5'Flank|SUMF2_ENST00000342190.6_5'Flank	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	507					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCTTCACTCCTGGTAAGTT	0.378																																						uc003trl.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(1519-1521)TCC>TGC		chaperonin containing TCP1, subunit 6A isoform							101.0	89.0	93.0					7																	56130445		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56130445C>G	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1520C>G	7.37:g.56130445C>G	ENSP00000275603:p.Ser507Cys					PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.S462C|CCT6A_uc011kcu.1_Missense_Mutation_p.S476C|SUMF2_uc003tro.2_5'Flank|SUMF2_uc011kcv.1_5'Flank|SUMF2_uc011kcw.1_5'Flank|SUMF2_uc011kcx.1_5'Flank|SUMF2_uc003trv.2_5'Flank|SUMF2_uc003trt.2_5'Flank|SUMF2_uc011kcy.1_5'Flank|SUMF2_uc011kcz.1_5'Flank|SUMF2_uc003tru.2_5'Flank|SUMF2_uc011kda.1_5'Flank|SUMF2_uc003trx.2_5'Flank	p.S507C	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		13	1684	+	Breast(14;0.214)		507					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.1520C>G	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171965	0.78452	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.80480	-1.38;-1.38;-1.38	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.90525	0.7031	H	0.97415	4	0.80722	D	1	P;P;P	0.43938	0.684;0.655;0.822	P;P;P	0.47376	0.464;0.536;0.545	D	0.93838	0.7134	10	0.87932	D	0	-2.6582	17.2876	0.87146	0.0:1.0:0.0:0.0	.	476;462;507	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	C	507;462;476;365	ENSP00000275603:S507C;ENSP00000352019:S462C;ENSP00000438488:S476C	ENSP00000275603:S507C	S	+	2	0	CCT6A	56097939	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.263000	0.78421	2.304000	0.77564	0.591000	0.81541	TCC		0.378	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		22	40	0	0	0	0	22	40				
TAF6	6878	broad.mit.edu	37	7	99711749	99711749	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:99711749G>A	ENST00000344095.4	-	2	609	c.84C>T	c.(82-84)atC>atT	p.I28I	TAF6_ENST00000437822.2_Silent_p.I65I|TAF6_ENST00000453269.2_Silent_p.I28I|TAF6_ENST00000452041.1_Silent_p.I28I|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000497233.1_5'Flank|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000472509.1_Silent_p.I85I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	28					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCTGGGCGATGCCCATGG	0.567																																						uc003uti.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(82-84)ATC>ATT		TBP-associated factor 6 isoform alpha							146.0	132.0	137.0					7																	99711749		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711749G>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.84C>T	7.37:g.99711749G>A						TAF6_uc003utg.2_5'Flank|TAF6_uc003uth.2_Silent_p.I85I|TAF6_uc003utk.2_Silent_p.I28I|TAF6_uc011kji.1_Silent_p.I65I|TAF6_uc003utj.2_Silent_p.I28I|TAF6_uc003utl.2_Silent_p.I28I|TAF6_uc003utm.2_Silent_p.I28I|TAF6_uc003utn.1_RNA	p.I28I	NM_139315	NP_647476	P49848	TAF6_HUMAN			2	165	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		28					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.84C>T	CCDS5686.1																																																																																				0.567	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		21	111	0	0	0	0	21	111				
CUX1	1523	broad.mit.edu	37	7	101840399	101840399	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:101840399G>A	ENST00000292535.7	+	15	1746	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G570R|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.G581R|CUX1_ENST00000546411.2_Missense_Mutation_p.G468R|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.G468R|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.G570R	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	570					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCACAATATCGGACAACGTAT	0.542																																						uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1708-1710)GGA>AGA		cut-like homeobox 1 isoform a							146.0	144.0	145.0					7																	101840399		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101840399G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1708G>A	7.37:g.101840399G>A	ENSP00000292535:p.Gly570Arg					CUX1_uc003uys.3_Missense_Mutation_p.G581R|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.G570R	NM_181552	NP_853530	P39880	CUX1_HUMAN			15	1746	+			570			CUT 1.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.1708G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468100	0.84533	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.72051	-0.54;-0.53;-0.62;-0.47;-0.61;-0.41	5.41	5.41	0.78517	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.83339	0.5233	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84401	0.0560	10	0.87932	D	0	-18.5885	19.5583	0.95363	0.0:0.0:1.0:0.0	.	570;581	P39880;P39880-3	CUX1_HUMAN;.	R	581;570;570;570;468;468	ENSP00000353401:G581R;ENSP00000292535:G570R;ENSP00000446630:G570R;ENSP00000447373:G570R;ENSP00000450125:G468R;ENSP00000451558:G468R	ENSP00000292535:G570R	G	+	1	0	CUX1	101627119	1.000000	0.71417	0.989000	0.46669	0.957000	0.61999	9.809000	0.99208	2.691000	0.91804	0.561000	0.74099	GGA		0.542	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		58	100	0	0	0	0	58	100				
GRM8	2918	broad.mit.edu	37	7	126173489	126173489	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:126173489G>A	ENST00000339582.2	-	9	2755	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S	GRM8_ENST00000444921.2_Silent_p.S649S|GRM8_ENST00000358373.3_Silent_p.S649S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	649					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCCGTCGGAAGGAGCATATGA	0.448										HNSCC(24;0.065)																												uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1945-1947)TCC>TCT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						89.0	88.0	88.0					7																	126173489		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173489G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1947C>T	7.37:g.126173489G>A		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.S649S|GRM8_uc010lkz.1_RNA	p.S649S	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2258	-		Prostate(267;0.186)	649			Helical; Name=3; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1947C>T	CCDS5794.1																																																																																				0.448	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			6	68	0	0	0	0	6	68				
LRGUK	136332	broad.mit.edu	37	7	133948645	133948645	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:133948645G>A	ENST00000285928.2	+	20	2465	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	799						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CACCAACACAGACAACACTCG	0.458																																						uc003vrm.1		NA																	0				lung(2)|skin(2)|kidney(1)	5						c.(2395-2397)AGA>AAA		leucine-rich repeats and guanylate kinase domain							140.0	112.0	121.0					7																	133948645		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133948645G>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2396G>A	7.37:g.133948645G>A	ENSP00000285928:p.Arg799Lys						p.R799K	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			20	2412	+			799					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.2396G>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	9.356	1.066689	0.20067	.	.	ENSG00000155530	ENST00000285928	T	0.34472	1.36	5.12	-2.25	0.06888	.	0.441528	0.21139	N	0.079519	T	0.13713	0.0332	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21930	-1.0231	10	0.14252	T	0.57	-0.9972	4.8932	0.13737	0.5266:0.0:0.3196:0.1538	.	799	Q96M69	LRGUK_HUMAN	K	799	ENSP00000285928:R799K	ENSP00000285928:R799K	R	+	2	0	LRGUK	133599185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.040000	0.13905	-0.228000	0.09869	-0.794000	0.03295	AGA		0.458	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		10	56	0	0	0	0	10	56				
ZNF282	8427	broad.mit.edu	37	7	148895756	148895756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:148895756G>A	ENST00000262085.3	+	2	602	c.497G>A	c.(496-498)aGg>aAg	p.R166K	ZNF282_ENST00000479907.1_Missense_Mutation_p.R166K	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	166					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTGCTGCAGAGGCGGCTGGAG	0.637																																						uc003wfm.2		NA																	0					0						c.(496-498)AGG>AAG		zinc finger protein 282							54.0	63.0	60.0					7																	148895756		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148895756G>A	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.497G>A	7.37:g.148895756G>A	ENSP00000262085:p.Arg166Lys					ZNF282_uc011kun.1_Missense_Mutation_p.R166K|ZNF282_uc003wfn.2_Missense_Mutation_p.R106K|ZNF282_uc003wfo.2_Missense_Mutation_p.R106K	p.R166K	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	2	602	+	Melanoma(164;0.15)		166					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.497G>A	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017341	0.75161	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	T;T	0.23754	1.89;1.89	4.26	4.26	0.50523	.	0.000000	0.43110	D	0.000614	T	0.46580	0.1400	M	0.64170	1.965	0.32241	N	0.572746	D;D;D;D	0.71674	0.998;0.992;0.992;0.992	D;D;D;D	0.83275	0.996;0.987;0.987;0.987	T	0.58544	-0.7618	10	0.87932	D	0	-29.1186	12.5196	0.56052	0.0:0.0:1.0:0.0	.	166;117;138;166	B4DRI5;Q86YG2;Q7Z2V4;Q9UDV7	.;.;.;ZN282_HUMAN	K	81;166;166	ENSP00000262085:R166K;ENSP00000418840:R166K	ENSP00000262085:R166K	R	+	2	0	ZNF282	148526689	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.371000	0.44248	2.096000	0.63516	0.313000	0.20887	AGG		0.637	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		15	60	0	0	0	0	15	60				
SLC4A2	6522	broad.mit.edu	37	7	150771922	150771922	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:150771922T>A	ENST00000485713.1	+	19	4081	c.3041T>A	c.(3040-3042)aTc>aAc	p.I1014N	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000392826.2_Missense_Mutation_p.I1005N|SLC4A2_ENST00000461735.1_Missense_Mutation_p.I1000N|SLC4A2_ENST00000413384.2_Missense_Mutation_p.I1014N|SLC4A2_ENST00000310317.5_Missense_Mutation_p.I932N	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1014	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGACACAGATCACCACGTGA	0.602																																						uc003wit.3		NA																	0					0						c.(3040-3042)ATC>AAC		solute carrier family 4, anion exchanger, member							46.0	48.0	47.0					7																	150771922		2202	4300	6502	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150771922T>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3041T>A	7.37:g.150771922T>A	ENSP00000419412:p.Ile1014Asn					SLC4A2_uc011kve.1_Missense_Mutation_p.I1005N|SLC4A2_uc003wiu.3_Missense_Mutation_p.I1000N|SLC4A2_uc003wiv.3_Missense_Mutation_p.I208N|uc011kvf.1_3'UTR	p.I1014N	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	19	3297	+			1014			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.3041T>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785565	0.90282	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.29	5.29	0.74685	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95092	0.8410	H	0.97291	3.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96652	0.9482	10	0.87932	D	0	.	14.5657	0.68173	0.0:0.0:0.0:1.0	.	1005;1000;1014	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	N	1014;1014;932;1005;1000	ENSP00000419412:I1014N;ENSP00000405600:I1014N;ENSP00000311402:I932N;ENSP00000376571:I1005N;ENSP00000419164:I1000N	ENSP00000311402:I932N	I	+	2	0	SLC4A2	150402855	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.836000	0.86788	2.225000	0.72522	0.459000	0.35465	ATC		0.602	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		7	10	0	0	0	0	7	10				
AGAP3	116988	broad.mit.edu	37	7	150817161	150817161	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:150817161G>A	ENST00000463381.1	+	8	869	c.373G>A	c.(373-375)Gag>Aag	p.E125K	AGAP3_ENST00000473312.1_Missense_Mutation_p.E353K|AGAP3_ENST00000335367.3_Missense_Mutation_p.E533K|AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000397238.2_Missense_Mutation_p.E353K	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	317	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTGCGCATCGAGACCATCGC	0.652																																						uc003wjg.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1057-1059)GAG>AAG		centaurin, gamma 3 isoform a							64.0	78.0	73.0					7																	150817161		2183	4284	6467	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150817161G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.373G>A	7.37:g.150817161G>A	ENSP00000418016:p.Glu125Lys					AGAP3_uc003wje.1_Missense_Mutation_p.E125K|AGAP3_uc003wjf.1_Missense_Mutation_p.E353K|AGAP3_uc010lpy.1_Intron|AGAP3_uc003wjh.1_Missense_Mutation_p.E533K|AGAP3_uc003wji.1_5'Flank	p.E353K	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			8	1060	+			317			Small GTPase-like.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.1057G>A		.	.	.	.	.	.	.	.	.	.	g	33	5.203839	0.95033	.	.	ENSG00000133612	ENST00000463381;ENST00000473312;ENST00000397238;ENST00000335355;ENST00000335367;ENST00000468796	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	3.61	3.61	0.41365	.	0.108216	0.36482	U	0.002562	T	0.35068	0.0919	L	0.38175	1.15	0.53005	D	0.999963	D;D;P;P	0.65815	0.995;0.973;0.622;0.872	P;P;B;B	0.55923	0.787;0.517;0.26;0.163	T	0.04294	-1.0962	10	0.16896	T	0.51	.	14.0227	0.64565	0.0:0.0:1.0:0.0	.	533;353;353;125	E7ESL9;Q96P47-4;E9PAL8;B3KNZ8	.;.;.;.	K	125;353;353;317;533;118	ENSP00000418016:E125K;ENSP00000418921:E353K;ENSP00000380413:E353K;ENSP00000335589:E533K;ENSP00000418159:E118K	ENSP00000334157:E317K	E	+	1	0	AGAP3	150448094	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.575000	0.98187	1.853000	0.53794	0.306000	0.20318	GAG		0.652	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		26	21	0	0	0	0	26	21				
FBXO25	26260	broad.mit.edu	37	8	381402	381402	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:381402A>T	ENST00000276326.5	+	3	315	c.196A>T	c.(196-198)Aaa>Taa	p.K66*	FBXO25_ENST00000352684.2_Missense_Mutation_p.K15N|FBXO25_ENST00000382824.1_Missense_Mutation_p.K15N|FBXO25_ENST00000350302.3_Nonsense_Mutation_p.K66*	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	66	Interaction with beta-actin.				protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TGCATCGAAAAAAAGGAAAAA	0.249																																						uc003wox.2		NA																	0				lung(1)	1						c.(196-198)AAA>TAA		F-box only protein 25 isoform 1							45.0	50.0	48.0					8																	381402		2197	4277	6474	SO:0001587	stop_gained	26260					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	g.chr8:381402A>T	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.196A>T	8.37:g.381402A>T	ENSP00000276326:p.Lys66*					FBXO25_uc003woy.2_Nonsense_Mutation_p.K66*|FBXO25_uc003woz.2_Missense_Mutation_p.K15N	p.K66*	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)	3	462	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	66			Interaction with beta-actin.		Q6PJ83|Q7Z4V4|Q9UKB8	Nonsense_Mutation	SNP	ENST00000276326.5	37	c.196A>T	CCDS5953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	36|36	5.672515|5.672515	0.96754|0.96754	.|.	.|.	ENSG00000147364|ENSG00000147364	ENST00000352684;ENST00000382824|ENST00000518240;ENST00000350302;ENST00000276326;ENST00000447233	.|.	.|.	.|.	4.22|4.22	4.22|4.22	0.49857|0.49857	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.15609|.	0.0376|.	.|.	.|.	.|.	0.25441|0.25441	N|N	0.988097|0.988097	B|.	0.29301|.	0.241|.	B|.	0.29598|.	0.104|.	T|.	0.19943|.	-1.0290|.	8|.	0.87932|0.02654	D|T	0|1	-32.5508|-32.5508	11.5676|11.5676	0.50815|0.50815	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	15|.	Q8TCJ0-3|.	.|.	N|X	15|66	.|.	ENSP00000341345:K15N|ENSP00000276326:K66X	K|K	+|+	3|1	2|0	FBXO25|FBXO25	371402|371402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	5.668000|5.668000	0.68074|0.68074	1.692000|1.692000	0.51112|0.51112	0.369000|0.369000	0.22263|0.22263	AAA|AAA		0.249	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173		8	40	0	0	0	0	8	40				
LOXL2	4017	broad.mit.edu	37	8	23179757	23179757	+	Silent	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:23179757T>G	ENST00000389131.3	-	7	1557	c.1188A>C	c.(1186-1188)acA>acC	p.T396T		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	396	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCTCATTGCCTGTGCACTGGA	0.517																																						uc003xdh.1		NA																	0				breast(2)|ovary(1)	3						c.(1186-1188)ACA>ACC		lysyl oxidase-like 2 precursor							169.0	124.0	139.0					8																	23179757		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23179757T>G	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1188A>C	8.37:g.23179757T>G						LOXL2_uc010lty.1_5'Flank	p.T396T	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	7	1527	-		Prostate(55;0.0453)|Breast(100;0.143)	396			SRCR 3.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.1188A>C	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	T	7.622	0.677010	0.14841	.	.	ENSG00000134013	ENST00000520349	.	.	.	5.49	-11.0	0.00169	.	.	.	.	.	T	0.33527	0.0866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55995	-0.8052	4	.	.	.	.	2.3528	0.04288	0.1922:0.3536:0.1709:0.2833	.	.	.	.	P	113	.	.	Q	-	2	0	LOXL2	23235702	0.000000	0.05858	0.008000	0.14137	0.946000	0.59487	-8.505000	0.00020	-4.821000	0.00030	-1.122000	0.02009	CAG		0.517	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			25	33	0	0	0	0	25	33				
ANK1	286	broad.mit.edu	37	8	41543691	41543691	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:41543691G>A	ENST00000347528.4	-	36	4452	c.4369C>T	c.(4369-4371)Cgt>Tgt	p.R1457C	ANK1_ENST00000396942.1_Missense_Mutation_p.R1457C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1457C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1457C|ANK1_ENST00000289734.7_Missense_Mutation_p.R1457C|ANK1_ENST00000265709.8_Missense_Mutation_p.R1498C|ANK1_ENST00000396945.1_Missense_Mutation_p.R1457C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1457	55 kDa regulatory domain.|Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCTTCACGGATGACCCAG	0.522																																						uc003xok.2		NA																	0		p.R1457H(1)		ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(4369-4371)CGT>TGT		ankyrin 1 isoform 1							156.0	112.0	127.0					8																	41543691		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41543691G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4369C>T	8.37:g.41543691G>A	ENSP00000339620:p.Arg1457Cys					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.R773C|ANK1_uc003xoi.2_Missense_Mutation_p.R1457C|ANK1_uc003xoj.2_Missense_Mutation_p.R1457C|ANK1_uc003xol.2_Missense_Mutation_p.R1457C|ANK1_uc003xom.2_Missense_Mutation_p.R1498C	p.R1457C	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		36	4453	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1457			55 kDa regulatory domain.|Death.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4369C>T	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.030469|4.030469	0.75504|0.75504	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|D;D;D;D;D;D;D	.|0.87256	.|-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Death (3);DEATH-like (2);	.|0.059384	.|0.64402	.|D	.|0.000004	D|D	0.94295|0.94295	0.8167|0.8167	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.76494	.|0.997;0.999;0.997;0.99;0.992;0.999	.|D;D;D;P;D;D	.|0.71414	.|0.923;0.949;0.963;0.85;0.923;0.973	D|D	0.94962|0.94962	0.8109|0.8109	5|10	.|0.87932	.|D	.|0	.|.	18.3408|18.3408	0.90304|0.90304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1498;1457;1457;1457;1457;773	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	L|C	778|1457;1457;1457;1457;1457;1457;1498;1457	.|ENSP00000339620:R1457C;ENSP00000289734:R1457C;ENSP00000369082:R1457C;ENSP00000380149:R1457C;ENSP00000380147:R1457C;ENSP00000309131:R1457C;ENSP00000265709:R1498C	.|ENSP00000265709:R1498C	P|R	-|-	2|1	0|0	ANK1|ANK1	41662848|41662848	1.000000|1.000000	0.71417|0.71417	0.301000|0.301000	0.25044|0.25044	0.481000|0.481000	0.33189|0.33189	9.113000|9.113000	0.94321|0.94321	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		7	54	0	0	0	0	7	54				
CYP7A1	1581	broad.mit.edu	37	8	59407110	59407110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:59407110G>C	ENST00000301645.3	-	4	1131	c.994C>G	c.(994-996)Cct>Gct	p.P332A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	332					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AAACAAATAGGATTGCCTTCC	0.373									Neonatal Giant Cell Hepatitis																													uc003xtm.3		NA																	0				ovary(1)	1						c.(994-996)CCT>GCT		cytochrome P450, family 7, subfamily A,							181.0	152.0	162.0					8																	59407110		2203	4300	6503	SO:0001583	missense	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59407110G>C	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.994C>G	8.37:g.59407110G>C	ENSP00000301645:p.Pro332Ala						p.P332A	NM_000780	NP_000771	P22680	CP7A1_HUMAN			4	1057	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	332					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.994C>G	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	0.547	-0.851202	0.02651	.	.	ENSG00000167910	ENST00000301645	T	0.64618	-0.11	5.74	3.89	0.44902	.	0.588857	0.20093	N	0.099417	T	0.46483	0.1395	L	0.52823	1.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40869	-0.9540	10	0.02654	T	1	-3.0258	4.2925	0.10885	0.1342:0.1316:0.6056:0.1286	.	332	P22680	CP7A1_HUMAN	A	332	ENSP00000301645:P332A	ENSP00000301645:P332A	P	-	1	0	CYP7A1	59569664	0.100000	0.21855	0.001000	0.08648	0.030000	0.12068	0.848000	0.27710	0.719000	0.32188	0.650000	0.86243	CCT		0.373	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		18	47	0	0	0	0	18	47				
PREX2	80243	broad.mit.edu	37	8	68934362	68934362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:68934362G>A	ENST00000288368.4	+	4	705	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	143	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R143Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACAATCCGGACATTTCTT	0.328																																						uc003xxv.1		NA																	2	Substitution - Missense(2)		endometrium(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(427-429)CGG>CAG		DEP domain containing 2 isoform a							112.0	106.0	108.0					8																	68934362		2202	4300	6502	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68934362G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.428G>A	8.37:g.68934362G>A	ENSP00000288368:p.Arg143Gln					PREX2_uc003xxu.1_Missense_Mutation_p.R143Q|PREX2_uc011lez.1_Missense_Mutation_p.R78Q	p.R143Q	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			4	455	+			143			DH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.428G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902353	0.92035	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.62639	0.01	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	N	0.19112	0.55	0.80722	D	1	D;P;P	0.89917	1.0;0.956;0.89	D;P;P	0.87578	0.998;0.751;0.559	T	0.69457	-0.5140	10	0.44086	T	0.13	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	143;143;143	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Q	143	ENSP00000288368:R143Q	ENSP00000288368:R143Q	R	+	2	0	PREX2	69096916	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.452000	0.97615	2.873000	0.98535	0.563000	0.77884	CGG		0.328	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		23	25	0	0	0	0	23	25				
NCOA2	10499	broad.mit.edu	37	8	71069394	71069394	+	Silent	SNP	G	G	A	rs200881821		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:71069394G>A	ENST00000452400.2	-	11	1387	c.1206C>T	c.(1204-1206)agC>agT	p.S402S	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	402					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GATGGGCAGGGCTGTTAGAGC	0.478			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								G|||	1	0.000199681	0.0	0.0	5008	,	,		19125	0.0		0.001	False		,,,				2504	0.0					uc003xyn.1		NA		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(1204-1206)AGC>AGT		nuclear receptor coactivator 2							64.0	62.0	63.0					8																	71069394		1947	4143	6090	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71069394G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1206C>T	8.37:g.71069394G>A							p.S402S	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1368	-	Breast(64;0.201)		402					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.1206C>T	CCDS47872.1																																																																																				0.478	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			6	27	0	0	0	0	6	27				
SLC30A8	169026	broad.mit.edu	37	8	118175721	118175721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:118175721G>A	ENST00000456015.2	+	6	781	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A212T|SLC30A8_ENST00000427715.2_Missense_Mutation_p.A212T|SLC30A8_ENST00000519688.1_Missense_Mutation_p.A212T	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	261					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCTGGTCTTGGCCAGCACCAT	0.398																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2		NA																	0				ovary(2)|skin(2)	4						c.(781-783)GCC>ACC		solute carrier family 30 member 8							152.0	150.0	150.0					8																	118175721		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118175721G>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.781G>A	8.37:g.118175721G>A	ENSP00000415011:p.Ala261Thr					SLC30A8_uc010mcz.2_Missense_Mutation_p.A212T|SLC30A8_uc011lia.1_Missense_Mutation_p.A212T|SLC30A8_uc003yog.2_Missense_Mutation_p.A212T	p.A261T	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		6	1011	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		261			Helical; (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.781G>A	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928562	0.34002	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	4.95	3.15	0.36227	.	0.547959	0.19987	N	0.101645	T	0.48660	0.1512	L	0.41236	1.265	0.33860	D	0.633653	B	0.27192	0.171	B	0.29663	0.105	T	0.52275	-0.8597	10	0.22706	T	0.39	-1.1141	7.5413	0.27740	0.2725:0.0:0.7275:0.0	.	261	Q8IWU4	ZNT8_HUMAN	T	212;212;212;261	ENSP00000428545:A212T;ENSP00000407505:A212T;ENSP00000431069:A212T;ENSP00000415011:A261T	ENSP00000407505:A212T	A	+	1	0	SLC30A8	118244902	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	2.385000	0.44371	0.759000	0.33084	0.655000	0.94253	GCC		0.398	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		9	103	0	0	0	0	9	103				
COL14A1	7373	broad.mit.edu	37	8	121170405	121170405	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:121170405C>G	ENST00000297848.3	+	3	395	c.125C>G	c.(124-126)tCt>tGt	p.S42C	COL14A1_ENST00000247781.3_Missense_Mutation_p.S42C|COL14A1_ENST00000309791.4_Missense_Mutation_p.S42C|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.S42C	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGTAATATCTCATGACAGT	0.343																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(124-126)TCT>TGT		collagen, type XIV, alpha 1 precursor							70.0	69.0	70.0					8																	121170405		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121170405C>G		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.125C>G	8.37:g.121170405C>G	ENSP00000297848:p.Ser42Cys						p.S42C	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		3	390	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		42			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000297848.3	37	c.125C>G	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207909	0.58343	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;T;T;T	0.59906	3.39;3.39;0.23;0.23	5.38	5.38	0.77491	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.424919	0.25109	N	0.033077	T	0.67306	0.2879	M	0.61703	1.905	0.34228	D	0.676214	D	0.69078	0.997	P	0.60173	0.87	T	0.77638	-0.2513	10	0.87932	D	0	.	9.082	0.36558	0.23:0.6316:0.1384:0.0	.	42	Q05707	COEA1_HUMAN	C	42	ENSP00000443974:S42C;ENSP00000311809:S42C;ENSP00000297848:S42C;ENSP00000247781:S42C	ENSP00000247781:S42C	S	+	2	0	COL14A1	121239586	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	1.860000	0.39428	2.515000	0.84797	0.650000	0.86243	TCT		0.343	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		15	34	0	0	0	0	15	34				
KCNQ3	3786	broad.mit.edu	37	8	133192492	133192492	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:133192492C>T	ENST00000388996.4	-	4	1109	c.689G>A	c.(688-690)cGc>cAc	p.R230H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R110H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R230H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	230					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R230H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CTGCAGGAAGCGCAGGCTTCG	0.587																																						uc003ytj.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(688-690)CGC>CAC		potassium voltage-gated channel KQT-like protein							105.0	94.0	98.0					8																	133192492		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133192492C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.689G>A	8.37:g.133192492C>T	ENSP00000373648:p.Arg230His					KCNQ3_uc010mdt.2_Missense_Mutation_p.R230H	p.R230H	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		4	914	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		230			Helical; Voltage-sensor; Name=Segment S4; (Potential).		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.689G>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792695	0.90453	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98617	-5.03;-5.03;-5.03	5.52	5.52	0.82312	Ion transport (1);	0.049783	0.85682	D	0.000000	D	0.99272	0.9746	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99368	1.0919	10	0.87932	D	0	-18.9515	18.4101	0.90549	0.0:1.0:0.0:0.0	.	230;230	E7ET42;O43525	.;KCNQ3_HUMAN	H	230;110;230;219;109	ENSP00000373648:R230H;ENSP00000429799:R110H;ENSP00000428790:R230H	ENSP00000373648:R230H	R	-	2	0	KCNQ3	133261674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.610000	0.88304	0.561000	0.74099	CGC		0.587	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		7	62	0	0	0	0	7	62				
COL22A1	169044	broad.mit.edu	37	8	139696689	139696689	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:139696689G>A	ENST00000303045.6	-	39	3437	c.2991C>T	c.(2989-2991)ctC>ctT	p.L997L	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.L997L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	997	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGTCCAGGGAGTCCAGGTG	0.493										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(2989-2991)CTC>CTT		collagen, type XXII, alpha 1							116.0	119.0	118.0					8																	139696689		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139696689G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2991C>T	8.37:g.139696689G>A		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Silent_p.L297L	p.L997L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		39	3438	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		997			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.2991C>T	CCDS6376.1																																																																																				0.493	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		16	129	0	0	0	0	16	129				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L	p.R58*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	384	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		9	4	0	0	0	0	9	4				
TAF1L	138474	broad.mit.edu	37	9	32630185	32630185	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:32630185G>A	ENST00000242310.4	-	1	5482	c.5393C>T	c.(5392-5394)tCt>tTt	p.S1798F		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1798					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCCACATCAGAGTCACTTCC	0.453																																						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(5392-5394)TCT>TTT		TBP-associated factor RNA polymerase 1-like							219.0	180.0	193.0					9																	32630185		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630185G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5393C>T	9.37:g.32630185G>A	ENSP00000418379:p.Ser1798Phe						p.S1798F	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5483	-			1798					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.5393C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032026	0.54790	.	.	ENSG00000122728	ENST00000242310	T	0.15017	2.46	0.479	0.479	0.16796	.	0.113637	0.64402	D	0.000008	T	0.30448	0.0765	L	0.57536	1.79	0.36988	D	0.894645	D	0.76494	0.999	D	0.83275	0.996	T	0.17684	-1.0361	10	0.62326	D	0.03	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1798	Q8IZX4	TAF1L_HUMAN	F	1798	ENSP00000418379:S1798F	ENSP00000418379:S1798F	S	-	2	0	TAF1L	32620185	0.925000	0.31364	0.986000	0.45419	0.520000	0.34377	2.983000	0.49345	0.507000	0.28148	0.195000	0.17529	TCT		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			12	49	0	0	0	0	12	49				
FBXO10	26267	broad.mit.edu	37	9	37537796	37537796	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:37537796C>G	ENST00000432825.2	-	3	778	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000543968.1_5'Flank	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	244					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TCACAGTTTTCCAGGACACAC	0.498																																						uc004aab.2		NA																	0				lung(5)	5						c.(730-732)GAA>CAA		F-box protein 10							64.0	65.0	65.0					9																	37537796		1947	4134	6081	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37537796C>G	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.730G>C	9.37:g.37537796C>G	ENSP00000403802:p.Glu244Gln					FBXO10_uc004aac.2_Missense_Mutation_p.E260Q|FBXO10_uc004aad.2_Intron	p.E244Q	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	3	779	-			244			PbH1 2.		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.730G>C	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497843	0.85069	.	.	ENSG00000147912	ENST00000432825	T	0.47528	0.84	4.95	4.95	0.65309	Pectin lyase fold/virulence factor (1);	0.052514	0.85682	D	0.000000	T	0.53948	0.1828	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.58730	-0.7585	10	0.66056	D	0.02	-16.862	17.3237	0.87242	0.0:1.0:0.0:0.0	.	244	Q9UK96	FBX10_HUMAN	Q	244	ENSP00000403802:E244Q	ENSP00000276960:E244Q	E	-	1	0	FBXO10	37527796	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.419000	0.80179	2.456000	0.83038	0.655000	0.94253	GAA		0.498	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			5	32	0	0	0	0	5	32				
WNK2	65268	broad.mit.edu	37	9	96021855	96021855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:96021855C>T	ENST00000297954.4	+	11	3025	c.3025C>T	c.(3025-3027)Ctt>Ttt	p.L1009F	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.L621F|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.L1009F|WNK2_ENST00000427277.2_Missense_Mutation_p.L621F	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1009					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGCCCCACCTTCCTGAACA	0.687																																						uc004ati.1		NA																	0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(3025-3027)CTT>TTT		WNK lysine deficient protein kinase 2							12.0	11.0	12.0					9																	96021855		2154	4202	6356	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96021855C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3025C>T	9.37:g.96021855C>T	ENSP00000297954:p.Leu1009Phe					WNK2_uc011lud.1_Missense_Mutation_p.L1009F|WNK2_uc004atj.2_Missense_Mutation_p.L1009F|WNK2_uc004atk.2_Missense_Mutation_p.L646F|WNK2_uc010mrc.1_Missense_Mutation_p.L957F	p.L1009F	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			11	3025	+			1009					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.3025C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.945|9.945	1.218596|1.218596	0.22373|0.22373	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T|.	0.70399|.	-0.47;-0.48;0.13;0.12|.	4.49|4.49	2.61|2.61	0.31194|0.31194	.|.	0.460907|.	0.21532|.	N|.	0.073037|.	T|T	0.39118|0.39118	0.1066|0.1066	N|N	0.24115|0.24115	0.695|0.695	0.47949|0.47949	D|D	0.999557|0.999557	D;D;D;D;D|.	0.76494|.	0.999;0.999;0.994;0.994;0.999|.	D;D;P;P;D|.	0.71656|.	0.974;0.974;0.855;0.804;0.942|.	T|T	0.07481|0.07481	-1.0770|-1.0770	9|5	.|.	.|.	.|.	.|.	6.9707|6.9707	0.24646|0.24646	0.0:0.7899:0.0:0.2101|0.0:0.7899:0.0:0.2101	.|.	1009;1009;612;1009;1009|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;.;WNK2_HUMAN|.	F|L	1009;1009;621;621|612	ENSP00000297954:L1009F;ENSP00000378860:L1009F;ENSP00000297876:L621F;ENSP00000411181:L621F|.	.|.	L|P	+|+	1|2	0|0	WNK2|WNK2	95061676|95061676	.|.	.|.	0.085000|0.085000	0.20634|0.20634	0.691000|0.691000	0.40173|0.40173	.|.	.|.	0.498000|0.498000	0.27948|0.27948	0.563000|0.563000	0.77884|0.77884	CTT|CCT		0.687	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		3	8	0	0	0	0	3	8				
PTCH1	5727	broad.mit.edu	37	9	98242784	98242784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:98242784C>T	ENST00000331920.6	-	6	1132	c.833G>A	c.(832-834)tGg>tAg	p.W278*	PTCH1_ENST00000430669.2_Nonsense_Mutation_p.W212*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.W127*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.W277*|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.W127*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.W212*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.W127*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	278					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.W278*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CATTTCCTCCCAGCTGTCCAC	0.498																																						uc004avk.3		NA																	1	Substitution - Nonsense(1)	p.W278*(2)	skin(1)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379	GRCh37	CM066204	PTCH1	M		c.(832-834)TGG>TAG		patched isoform L							122.0	116.0	118.0					9																	98242784		2203	4300	6503	SO:0001587	stop_gained	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98242784C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.833G>A	9.37:g.98242784C>T	ENSP00000332353:p.Trp278*					PTCH1_uc010mro.2_Nonsense_Mutation_p.W127*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.W127*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.W127*|PTCH1_uc004avl.3_Nonsense_Mutation_p.W127*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.W212*|PTCH1_uc004avm.3_Nonsense_Mutation_p.W277*|PTCH1_uc010mrs.1_5'UTR|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA	p.W278*	NM_000264	NP_000255	Q13635	PTC1_HUMAN			6	1021	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	278			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	ENST00000331920.6	37	c.833G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	38	7.211242	0.98139	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820	.	.	.	5.88	5.88	0.94601	.	0.103920	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.8518	20.2187	0.98312	0.0:1.0:0.0:0.0	.	.	.	.	X	278;212;127;127;212;127;277;127;127;127;127	.	ENSP00000332353:W278X	W	-	2	0	PTCH1	97282605	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.701000	0.54793	2.780000	0.95670	0.655000	0.94253	TGG		0.498	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		51	42	0	0	0	0	51	42				
STX17	55014	broad.mit.edu	37	9	102677620	102677620	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:102677620A>C	ENST00000259400.6	+	2	235	c.99A>C	c.(97-99)agA>agC	p.R33S	RP11-60I3.4_ENST00000524512.1_RNA|STX17_ENST00000525640.1_Missense_Mutation_p.R33S|STX17_ENST00000534052.1_Missense_Mutation_p.R33S	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	33					autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AAAGGTTAAGAAAGCACCAGA	0.343																																						uc004bal.3		NA																	0				large_intestine(1)	1						c.(97-99)AGA>AGC		syntaxin 17							88.0	91.0	90.0					9																	102677620		2203	4300	6503	SO:0001583	missense	55014				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity	g.chr9:102677620A>C	AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.99A>C	9.37:g.102677620A>C	ENSP00000259400:p.Arg33Ser					STX17_uc004bak.2_Missense_Mutation_p.R33S|STX17_uc010msx.2_RNA|STX17_uc011lvd.1_RNA	p.R33S	NM_017919	NP_060389	P56962	STX17_HUMAN			2	235	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	33			Cytoplasmic (Potential).		Q4VXC2	Missense_Mutation	SNP	ENST00000259400.6	37	c.99A>C	CCDS6745.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112949	0.56398	.	.	ENSG00000136874	ENST00000259400;ENST00000531035;ENST00000525640;ENST00000534052;ENST00000526607	T;T;T	0.21361	2.01;2.01;2.01	5.32	4.15	0.48705	t-SNARE (1);	0.161058	0.56097	D	0.000027	T	0.17662	0.0424	L	0.39898	1.24	0.39019	D	0.9597	B;B	0.16396	0.004;0.017	B;B	0.13407	0.004;0.009	T	0.04551	-1.0943	10	0.66056	D	0.02	-4.7644	9.3115	0.37908	0.9159:0.0:0.0841:0.0	.	33;33	P56962;B4DJ69	STX17_HUMAN;.	S	33	ENSP00000259400:R33S;ENSP00000435981:R33S;ENSP00000433484:R33S	ENSP00000259400:R33S	R	+	3	2	STX17	101717441	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.881000	0.28173	0.924000	0.37069	0.533000	0.62120	AGA		0.343	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053398.3	NM_017919		16	34	0	0	0	0	16	34				
SLC44A1	23446	broad.mit.edu	37	9	108110642	108110642	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:108110642C>G	ENST00000374720.3	+	5	657	c.410C>G	c.(409-411)tCa>tGa	p.S137*	SLC44A1_ENST00000374724.1_Nonsense_Mutation_p.S137*|SLC44A1_ENST00000374723.1_Nonsense_Mutation_p.S137*	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	137					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TCAACAGGTTCAGCCCTATGT	0.353																																						uc004bcn.2		NA																	0				breast(3)|ovary(1)	4						c.(409-411)TCA>TGA		CDW92 antigen	Choline(DB00122)						105.0	104.0	104.0					9																	108110642		2203	4300	6503	SO:0001587	stop_gained	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108110642C>G	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.410C>G	9.37:g.108110642C>G	ENSP00000363852:p.Ser137*					SLC44A1_uc010mtk.1_Nonsense_Mutation_p.S137*	p.S137*	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN			5	631	+			137			Mitochondrial intermembrane (Potential).		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Nonsense_Mutation	SNP	ENST00000374720.3	37	c.410C>G	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	C	38	6.677590	0.97755	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	.	.	.	5.39	5.39	0.77823	.	0.132739	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-12.0003	19.1447	0.93459	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000363852:S137X	S	+	2	0	SLC44A1	107150463	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	6.652000	0.74377	2.520000	0.84964	0.609000	0.83330	TCA		0.353	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		6	53	0	0	0	0	6	53				
ZFP37	7539	broad.mit.edu	37	9	115818900	115818900	+	Missense_Mutation	SNP	T	T	G	rs144129779		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:115818900T>G	ENST00000374227.3	-	1	96	c.69A>C	c.(67-69)gaA>gaC	p.E23D	ZFP37_ENST00000553380.1_Missense_Mutation_p.E23D|ZFP37_ENST00000555206.1_Missense_Mutation_p.E23D	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTTGGTCGTTTCCGCACTTC	0.652																																						uc004bgm.1		NA																	0				ovary(1)|skin(1)	2						c.(67-69)GAA>GAC		zinc finger protein 37 homolog							133.0	134.0	134.0					9																	115818900		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115818900T>G	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.69A>C	9.37:g.115818900T>G	ENSP00000363344:p.Glu23Asp					ZFP37_uc011lwz.1_Missense_Mutation_p.E23D|ZFP37_uc011lxa.1_Missense_Mutation_p.E23D	p.E23D	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			1	97	-			23					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.69A>C	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	t	9.867	1.197951	0.22037	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05855	3.42;3.38;3.43	2.92	-5.84	0.02318	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47674	-0.9099	9	0.12103	T	0.63	.	8.5538	0.33469	0.1421:0.6571:0.0:0.2008	.	23;23;23	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	D	23	ENSP00000363344:E23D;ENSP00000451310:E23D;ENSP00000452552:E23D	ENSP00000363344:E23D	E	-	3	2	ZFP37	114858721	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.524000	0.06222	-2.038000	0.00918	0.456000	0.33151	GAA		0.652	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		18	116	0	0	0	0	18	116				
COL27A1	85301	broad.mit.edu	37	9	116930469	116930469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:116930469G>A	ENST00000356083.3	+	3	1025	c.634G>A	c.(634-636)Gct>Act	p.A212T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	212	Laminin G-like.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTTTGAAGGTGCTCTCTGCCA	0.582																																						uc011lxl.1		NA																	0				ovary(3)|skin(1)	4						c.(634-636)GCT>ACT		collagen, type XXVII, alpha 1 precursor							70.0	66.0	67.0					9																	116930469		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930469G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.634G>A	9.37:g.116930469G>A	ENSP00000348385:p.Ala212Thr					COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.A62T	p.A212T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			3	634	+			212			Laminin G-like.|TSP N-terminal.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.634G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387978	0.61956	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	T;T	0.02177	4.41;4.41	5.12	5.12	0.69794	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	.	.	.	.	T	0.09642	0.0237	L	0.55743	1.74	0.52099	D	0.999942	D;D	0.89917	0.999;1.0	D;D	0.91635	0.979;0.999	T	0.17198	-1.0377	9	0.35671	T	0.21	.	16.0457	0.80720	0.0:0.0:1.0:0.0	.	212;159	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	T	212;212;159;159	ENSP00000348385:A212T;ENSP00000391328:A159T	ENSP00000348385:A212T	A	+	1	0	COL27A1	115970290	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.772000	0.75001	2.360000	0.80028	0.555000	0.69702	GCT		0.582	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		6	58	0	0	0	0	6	58				
CNTRL	11064	broad.mit.edu	37	9	123914854	123914854	+	Missense_Mutation	SNP	C	C	T	rs574338866		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:123914854C>T	ENST00000373855.1	+	26	4315	c.4055C>T	c.(4054-4056)tCg>tTg	p.S1352L	CNTRL_ENST00000373847.1_Missense_Mutation_p.S800L|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.S800L|CNTRL_ENST00000238341.5_Missense_Mutation_p.S1352L			Q7Z7A1	CNTRL_HUMAN	centriolin	1352					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGCGGCAGTCGGAGAAAGAA	0.383																																						uc004bkx.1		NA																	0					0						c.(4054-4056)TCG>TTG		centrosomal protein 110kDa							110.0	116.0	114.0					9																	123914854		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123914854C>T	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4055C>T	9.37:g.123914854C>T	ENSP00000362962:p.Ser1352Leu					CEP110_uc004bla.1_Missense_Mutation_p.S800L|CEP110_uc010mvo.1_Missense_Mutation_p.S21L|CEP110_uc004blb.1_Missense_Mutation_p.S21L	p.S1352L	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			24	4086	+			1352			Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.4055C>T	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327384	0.41197	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	T;T;T;T;T	0.77750	2.4;2.4;2.4;2.4;-1.12	5.67	2.76	0.32466	.	.	.	.	.	T	0.66819	0.2828	L	0.56769	1.78	0.20307	N	0.999915	B	0.31837	0.342	B	0.20184	0.028	T	0.51442	-0.8705	9	0.02654	T	1	.	12.2821	0.54769	0.1265:0.3818:0.4917:0.0	.	1352	Q7Z7A1	CNTRL_HUMAN	L	1352;1352;1352;108;800;800;21;21	ENSP00000362962:S1352L;ENSP00000238341:S1352L;ENSP00000362956:S800L;ENSP00000362953:S800L;ENSP00000413014:S21L	ENSP00000238341:S1352L	S	+	2	0	CNTRL	122954675	0.052000	0.20516	0.899000	0.35326	0.838000	0.47535	0.260000	0.18424	0.396000	0.25283	0.655000	0.94253	TCG		0.383	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		25	36	0	0	0	0	25	36				
NOTCH1	4851	broad.mit.edu	37	9	139405241	139405241	+	Silent	SNP	G	G	A	rs115235667	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:139405241G>A	ENST00000277541.6	-	17	2679	c.2604C>T	c.(2602-2604)gtC>gtT	p.V868V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	868					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTTGATGTCGACCTCACAGG	0.706			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			G|||	4	0.000798722	0.0023	0.0014	5008	,	,		14268	0.0		0.0	False		,,,				2504	0.0					uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(2602-2604)GTC>GTT		notch1 preproprotein		G		12,4054		0,12,2021	32.0	39.0	37.0		2604	-9.8	0.0	9	dbSNP_132	37	1,8315		0,1,4157	no	coding-synonymous	NOTCH1	NM_017617.3		0,13,6178	AA,AG,GG		0.012,0.2951,0.105		868/2556	139405241	13,12369	2033	4158	6191	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139405241G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2604C>T	9.37:g.139405241G>A		HNSCC(8;0.001)				NOTCH1_uc004cia.1_Silent_p.V98V	p.V868V	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	17	2604	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	868			Extracellular (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.2604C>T	CCDS43905.1																																																																																				0.706	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		24	12	0	0	0	0	24	12				
DCAF8L2	347442	broad.mit.edu	37	X	27766113	27766113	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:27766113G>T	ENST00000451261.2	+	5	1500	c.1101G>T	c.(1099-1101)gtG>gtT	p.V367V		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	367										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATAAGAAAGTGGGACTGTATA	0.418																																						uc011mjy.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1099-1101)GTG>GTT		DDB1 and CUL4 associated factor 8-like 2							131.0	91.0	103.0					X																	27766113		692	1591	2283	SO:0001819	synonymous_variant	347442							g.chrX:27766113G>T		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1101G>T	X.37:g.27766113G>T							p.V367V	NM_001136533	NP_001130005					1	1188	+								B2RXH9|J3KT06	Silent	SNP	ENST00000451261.2	37	c.1101G>T	CCDS59162.1																																																																																				0.418	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		10	14	1	0	2.18e-05	2.37e-05	10	14				
IL1RAPL1	11141	broad.mit.edu	37	X	29973400	29973400	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:29973400T>G	ENST00000378993.1	+	11	2227	c.1554T>G	c.(1552-1554)atT>atG	p.I518M	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I518M	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	518	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGAGAGGAATTATGAACTACC	0.448																																						uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(1552-1554)ATT>ATG		interleukin 1 receptor accessory protein-like 1							66.0	63.0	64.0					X																	29973400		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973400T>G	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1554T>G	X.37:g.29973400T>G	ENSP00000368278:p.Ile518Met						p.I518M	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			11	2062	+			518			Cytoplasmic (Potential).|TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1554T>G	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	T	8.281	0.815599	0.16607	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.07908	3.15;3.15	5.69	1.7	0.24286	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.147481	0.64402	D	0.000008	T	0.04724	0.0128	N	0.24115	0.695	0.42822	D	0.993994	B	0.16603	0.018	B	0.28465	0.09	T	0.39210	-0.9625	9	.	.	.	.	2.0828	0.03639	0.1308:0.1644:0.1324:0.5724	.	518	Q9NZN1	IRPL1_HUMAN	M	518	ENSP00000368278:I518M;ENSP00000305200:I518M	.	I	+	3	3	IL1RAPL1	29883321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.102000	0.31050	0.755000	0.32990	0.486000	0.48141	ATT		0.448	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		27	9	0	0	0	0	27	9				
DMD	1756	broad.mit.edu	37	X	32305682	32305682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:32305682C>T	ENST00000357033.4	-	43	6460	c.6254G>A	c.(6253-6255)tGg>tAg	p.W2085*	DMD_ENST00000378677.2_Nonsense_Mutation_p.W2081*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2085					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACTTTTTCCCATTGGAAATC	0.398																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6253-6255)TGG>TAG		dystrophin Dp427m isoform							196.0	166.0	176.0					X																	32305682		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32305682C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6254G>A	X.37:g.32305682C>T	ENSP00000354923:p.Trp2085*					DMD_uc004dcw.2_Nonsense_Mutation_p.W741*|DMD_uc004dcx.2_Nonsense_Mutation_p.W744*|DMD_uc004dcz.2_Nonsense_Mutation_p.W1962*|DMD_uc004dcy.1_Nonsense_Mutation_p.W2081*|DMD_uc004ddb.1_Nonsense_Mutation_p.W2077*|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA	p.W2085*	NM_004006	NP_003997	P11532	DMD_HUMAN			43	6498	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2085			Spectrin 14.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.6254G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	46	12.874837	0.99702	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	4.36	3.46	0.39613	.	0.259886	0.20156	U	0.098060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8715	0.57968	0.1639:0.8361:0.0:0.0	.	.	.	.	X	2077;744;741;2081;2085;2085;1962	.	ENSP00000354923:W2085X	W	-	2	0	DMD	32215603	1.000000	0.71417	0.428000	0.26697	0.465000	0.32709	2.774000	0.47694	0.903000	0.36546	0.600000	0.82982	TGG		0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		28	19	0	0	0	0	28	19				
UPRT	139596	broad.mit.edu	37	X	74494189	74494189	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:74494189C>T	ENST00000373383.4	+	1	267	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373379.1_Silent_p.L34L|UPRT_ENST00000530743.1_5'Flank	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	34					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						ACCTGGCGATCTGATCCTGGA	0.612																																						uc004ecb.1		NA																	0					0						c.(100-102)CTG>TTG		uracil phosphoribosyltransferase (FUR1) homolog							42.0	36.0	38.0					X																	74494189		2203	4300	6503	SO:0001819	synonymous_variant	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74494189C>T	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.100C>T	X.37:g.74494189C>T						UPRT_uc010nlu.1_Silent_p.L34L|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Silent_p.L34L|UPRT_uc004ece.1_5'Flank	p.L34L	NM_145052	NP_659489	Q96BW1	UPP_HUMAN			1	229	+			34					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Silent	SNP	ENST00000373383.4	37	c.100C>T	CCDS14429.1																																																																																				0.612	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		4	16	0	0	0	0	4	16				
MAGEC1	9947	broad.mit.edu	37	X	140994922	140994922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:140994922C>T	ENST00000285879.4	+	4	2018	c.1732C>T	c.(1732-1734)Cac>Tac	p.H578Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	578										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTCTCCTCACTACTTTCC	0.582										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1732-1734)CAC>TAC		melanoma antigen family C, 1							241.0	259.0	253.0					X																	140994922		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994922C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1732C>T	X.37:g.140994922C>T	ENSP00000285879:p.His578Tyr	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.H578Y	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2018	+	Acute lymphoblastic leukemia(192;6.56e-05)		578					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1732C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	8.782	0.928589	0.18131	.	.	ENSG00000155495	ENST00000285879	T	0.02103	4.45	0.92	0.92	0.19397	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.80722	D	1	P	0.38110	0.618	B	0.23018	0.043	T	0.66015	-0.6028	9	0.87932	D	0	.	7.6329	0.28249	0.0:0.9999:0.0:1.0E-4	.	578	O60732	MAGC1_HUMAN	Y	578	ENSP00000285879:H578Y	ENSP00000285879:H578Y	H	+	1	0	MAGEC1	140822588	0.034000	0.19679	0.011000	0.14972	0.011000	0.07611	1.850000	0.39328	0.179000	0.19938	0.181000	0.17075	CAC		0.582	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		118	109	0	0	0	0	118	109				
CXorf40A	91966	broad.mit.edu	37	X	148627337	148627337	+	Missense_Mutation	SNP	G	G	A	rs149793182	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:148627337G>A	ENST00000441248.1	+	3	1748	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	CXorf40A_ENST00000423540.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000428236.1_5'UTR|CXorf40A_ENST00000359293.5_Missense_Mutation_p.R54Q|CXorf40A_ENST00000423421.1_Missense_Mutation_p.R54Q|CXorf40A_ENST00000434353.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000514208.1_Missense_Mutation_p.R54Q|RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000393985.3_Missense_Mutation_p.R54Q|CXorf40A_ENST00000450602.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000422892.2_Missense_Mutation_p.R54Q			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	54										breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATGCCTGGCGGGAGCTGCTG	0.592													g|||	2	0.000529801	0.0008	0.0	3775	,	,		13991	0.0		0.001	False		,,,				2504	0.0					uc004fdb.2		NA																	0					0						c.(160-162)CGG>CAG		chromosome X open reading frame 40		A	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	6,3827		0,6,1625,571	87.0	57.0	67.0		161,161,161,161	-7.4	0.0	X	dbSNP_134	67	0,6726		0,0,2427,1872	no	missense,missense,missense,missense	CXorf40A	NM_001171907.1,NM_001171908.1,NM_001171909.1,NM_178124.4	43,43,43,43	0,6,4052,2443	AA,AG,GG,G		0.0,0.1565,0.0568	benign,benign,benign,benign	54/159,54/159,54/147,54/159	148627337	6,10553	2202	4299	6501	SO:0001583	missense	91966						protein binding	g.chrX:148627337G>A	AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.161G>A	X.37:g.148627337G>A	ENSP00000423099:p.Arg54Gln					CXorf40A_uc011mxm.1_Missense_Mutation_p.R54Q|CXorf40A_uc011mxn.1_Missense_Mutation_p.R54Q|CXorf40A_uc004fdd.2_Missense_Mutation_p.R54Q|CXorf40A_uc004fde.1_Missense_Mutation_p.R54Q|CXorf40A_uc011mxo.1_Silent_p.A143A|CXorf40A_uc004fdg.2_Missense_Mutation_p.R54Q|CXorf40A_uc004fdf.2_Missense_Mutation_p.R54Q|CXorf40A_uc004fdh.2_Missense_Mutation_p.R54Q|CXorf40A_uc010nsy.2_Missense_Mutation_p.R54Q|CXorf40A_uc004fdi.2_Missense_Mutation_p.R71Q	p.R54Q	NM_178124	NP_835225	Q8TE69	CX04A_HUMAN			4	433	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		54					A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Missense_Mutation	SNP	ENST00000441248.1	37	c.161G>A	CCDS14687.1	.	.	.	.	.	.	.	.	.	.	A	1.784	-0.481277	0.04383	0.001565	0.0	ENSG00000197620	ENST00000450602;ENST00000441248;ENST00000393985;ENST00000423421;ENST00000423540;ENST00000434353;ENST00000514208;ENST00000422892;ENST00000359293	D;D;D;D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	3.71	-7.42	0.01388	PUA-like domain (1);	0.670247	0.14108	N	0.340893	D	0.83238	0.5211	L	0.34521	1.04	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.0	B;B;B	0.10450	0.005;0.005;0.001	T	0.61821	-0.6984	10	0.33141	T	0.24	.	10.3227	0.43775	0.5957:0.0922:0.3121:0.0	.	54;54;54	Q8TE69;E7ENU3;D6RA72	CX04A_HUMAN;.;.	Q	54	ENSP00000427540:R54Q;ENSP00000423099:R54Q;ENSP00000421745:R54Q;ENSP00000422512:R54Q;ENSP00000425520:R54Q;ENSP00000423160:R54Q;ENSP00000423708:R54Q;ENSP00000422312:R54Q;ENSP00000420882:R54Q	ENSP00000420882:R54Q	R	+	2	0	CXorf40A	148435242	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.876000	0.04201	-2.832000	0.00339	-4.163000	0.00010	CGG		0.592	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058699.3	NM_178124		12	17	0	0	0	0	12	17				
G6PD	2539	broad.mit.edu	37	X	153760877	153760877	+	Missense_Mutation	SNP	C	C	T	rs137852325		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:153760877C>T	ENST00000393564.2	-	10	1304	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	G6PD_ENST00000369620.2_Missense_Mutation_p.E444K|G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000393562.2_Missense_Mutation_p.E428K	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	398			E -> K (in Puerto Limon; class I).		carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACACGGCCTCGTTGGGCTGC	0.607																																						uc004fly.1		NA																	0				ovary(4)	4	GRCh37	CM910162	G6PD	M	rs137852325	c.(1192-1194)GAG>AAG		glucose-6-phosphate dehydrogenase isoform b							86.0	73.0	78.0					X																	153760877		2203	4300	6503	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153760877C>T	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1192G>A	X.37:g.153760877C>T	ENSP00000377194:p.Glu398Lys					G6PD_uc004flx.1_Missense_Mutation_p.E428K	p.E398K	NM_001042351	NP_001035810	P11413	G6PD_HUMAN			10	1305	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		398		E -> K (in Puerto Limon; class I).			D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.1192G>A	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246248	0.80024	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.99856	-7.21;-7.21;-7.21	5.82	4.96	0.65561	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	H	0.99357	4.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96291	0.9214	10	0.87932	D	0	.	11.7147	0.51645	0.0:0.9129:0.0:0.087	.	398;428	P11413;P11413-3	G6PD_HUMAN;.	K	428;398;398;444	ENSP00000377192:E428K;ENSP00000377194:E398K;ENSP00000358633:E444K	ENSP00000291567:E398K	E	-	1	0	G6PD	153414071	1.000000	0.71417	0.998000	0.56505	0.421000	0.31385	5.575000	0.67430	1.222000	0.43521	0.597000	0.82753	GAG		0.607	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		15	37	0	0	0	0	15	37				
LRP8	7804	broad.mit.edu	37	1	53746315	53746316	+	Frame_Shift_Ins	INS	-	-	A	rs146690956		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:53746315_53746316insA	ENST00000306052.6	-	4	540_541	c.439_440insT	c.(439-441)cgcfs	p.R147fs	LRP8_ENST00000347547.2_Frame_Shift_Ins_p.R147fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.R147fs|LRP8_ENST00000371454.2_Frame_Shift_Ins_p.R147fs|LRP8_ENST00000465675.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	147	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCCGTCGCAGCGCCACGAGGCA	0.614																																						uc001cvi.1		NA																	0					0						c.(439-441)CGCfs		low density lipoprotein receptor-related protein																																				SO:0001589	frameshift_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53746315_53746316insA	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.439_440insT	1.37:g.53746315_53746316insA	ENSP00000303634:p.Arg147fs					LRP8_uc001cvh.1_5'UTR|LRP8_uc001cvk.1_Frame_Shift_Ins_p.R147fs|LRP8_uc001cvj.1_Frame_Shift_Ins_p.R147fs|LRP8_uc001cvl.1_Frame_Shift_Ins_p.R147fs	p.R147fs	NM_004631	NP_004622	Q14114	LRP8_HUMAN			4	581_582	-			147			LDL-receptor class A 3.|Extracellular (Potential).		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Frame_Shift_Ins	INS	ENST00000306052.6	37	c.439_440insT	CCDS578.1																																																																																				0.614	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		10	29	NA	NA	NA	NA	10	29	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185801912	185801912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:185801912delA	ENST00000302277.6	+	4	2383	c.1789delA	c.(1789-1791)aaafs	p.K598fs		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	598							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						TAGAAGAAAGAAAAAAAGAAA	0.323																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1789-1791)AAAfs		zinc finger protein 804A							44.0	52.0	49.0					2																	185801912		2201	4291	6492	SO:0001589	frameshift_variant	91752					intracellular	zinc ion binding	g.chr2:185801912delA	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.1789delA	2.37:g.185801912delA	ENSP00000303252:p.Lys598fs						p.K597fs	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2383	+			597					A7E253|Q6ZN26	Frame_Shift_Del	DEL	ENST00000302277.6	37	c.1789delA	CCDS2291.1																																																																																				0.323	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		14	72	NA	NA	NA	NA	14	72	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135251352	135251363	+	In_Frame_Del	DEL	GAGCCATGCATG	GAGCCATGCATG	-	rs574795684|rs201815658	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:135251352_135251363delGAGCCATGCATG	ENST00000334270.2	-	11	2696_2707	c.2657_2668delCATGCATGGCTC	c.(2656-2670)ccatgcatggctcac>cac	p.PCMA886del	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	886					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ttacaggcgtgagccatgcatggcgcctggcc	0.509																																						uc004cbl.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2656-2670)CCATGCATGGCTCAC>CAC		transcription termination factor, RNA polymerase																																				SO:0001651	inframe_deletion	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135251352_135251363delGAGCCATGCATG	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2657_2668delCATGCATGGCTC	9.37:g.135251352_135251363delGAGCCATGCATG	ENSP00000333920:p.Pro886_Ala889del					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_In_Frame_Del_p.PCMA371del	p.PCMA886del	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	11	2709_2720	-		Myeloproliferative disorder(178;0.204)	886_889					A1L160|Q4VXF3|Q58EY2|Q6P5T5	In_Frame_Del	DEL	ENST00000334270.2	37	c.2657_2668delCATGCATGGCTC	CCDS6948.1																																																																																				0.509	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		8	7	NA	NA	NA	NA	8	7	---	---	---	---
