#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
TMEM39B	55116	broad.mit.edu	37	1	32542834	32542834	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:32542834A>G	ENST00000336294.5	+	5	651	c.505A>G	c.(505-507)Acg>Gcg	p.T169A	TMEM39B_ENST00000427288.1_Missense_Mutation_p.T54A|TMEM39B_ENST00000456834.2_Intron|TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	169						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CACCGTTCTCACGGCAACAGG	0.597																																						uc010ogv.1		NA																	0					0						c.(505-507)ACG>GCG		transmembrane protein 39B							197.0	158.0	171.0					1																	32542834		2203	4300	6503	SO:0001583	missense	55116					integral to membrane		g.chr1:32542834A>G	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.505A>G	1.37:g.32542834A>G	ENSP00000338165:p.Thr169Ala					TMEM39B_uc010ogt.1_Intron|TMEM39B_uc010ogu.1_Missense_Mutation_p.T42A|TMEM39B_uc001bue.3_Missense_Mutation_p.T169A|TMEM39B_uc001buf.3_Intron|TMEM39B_uc010ogw.1_Intron	p.T169A	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN			5	651	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	169			Helical; (Potential).		B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.505A>G	CCDS351.2	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464793	0.63513	.	.	ENSG00000121775	ENST00000336294;ENST00000373633;ENST00000438825;ENST00000427288	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.77011	0.4068	M	0.78637	2.42	0.80722	D	1	B;D;P	0.69078	0.039;0.997;0.495	B;D;B	0.80764	0.135;0.994;0.143	T	0.74705	-0.3575	9	0.17369	T	0.5	-13.6567	14.8501	0.70289	1.0:0.0:0.0:0.0	.	169;54;42	Q9GZU3;B4DTN8;Q9NW51	TM39B_HUMAN;.;.	A	169;141;141;54	.	ENSP00000338165:T169A	T	+	1	0	TMEM39B	32315421	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.878000	0.92393	2.050000	0.60909	0.408000	0.27601	ACG		0.597	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		4	99	0	0	0	0	4	99				
MARCKSL1	65108	broad.mit.edu	37	1	32800482	32800482	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:32800482C>T	ENST00000329421.7	-	2	649	c.304G>A	c.(304-306)Ggc>Agc	p.G102S		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	102	Effector domain involved in lipid- binding. {ECO:0000250}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAGGACAGGCCGCTCAATTTG	0.577																																						uc001bvd.2		NA																	0				ovary(1)	1						c.(304-306)GGC>AGC		MARCKS-like 1							41.0	42.0	42.0					1																	32800482		2203	4299	6502	SO:0001583	missense	65108					plasma membrane	calmodulin binding	g.chr1:32800482C>T	AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"""MARCKS-like protein"""	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.304G>A	1.37:g.32800482C>T	ENSP00000362638:p.Gly102Ser						p.G102S	NM_023009	NP_075385	P49006	MRP_HUMAN			2	504	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	102					D3DPQ0|Q5TEE6|Q6NXS5	Missense_Mutation	SNP	ENST00000329421.7	37	c.304G>A	CCDS361.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921660	0.92319	.	.	ENSG00000175130	ENST00000329421	T	0.56275	0.47	4.96	4.96	0.65561	.	0.056057	0.64402	N	0.000001	T	0.60919	0.2306	L	0.55213	1.73	0.80722	D	1	D	0.61697	0.99	P	0.52031	0.688	T	0.63116	-0.6709	10	0.49607	T	0.09	-1.018	18.1987	0.89831	0.0:1.0:0.0:0.0	.	102	P49006	MRP_HUMAN	S	102	ENSP00000362638:G102S	ENSP00000362638:G102S	G	-	1	0	MARCKSL1	32573069	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.943000	0.49026	2.486000	0.83907	0.561000	0.74099	GGC		0.577	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020059.3	NM_023009		3	54	0	0	0	0	3	54				
GRIK3	2899	broad.mit.edu	37	1	37337839	37337839	+	Missense_Mutation	SNP	G	G	A	rs141595955		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:37337839G>A	ENST00000373091.3	-	4	698	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	GRIK3_ENST00000373093.4_Missense_Mutation_p.R228C	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	228					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AAGATAATGCGGAATTCCCGG	0.597																																						uc001caz.2		NA																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(682-684)CGC>TGC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)	G	CYS/ARG	0,4406		0,0,2203	75.0	65.0	68.0		682	5.4	1.0	1	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRIK3	NM_000831.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	228/920	37337839	1,13005	2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37337839G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.682C>T	1.37:g.37337839G>A	ENSP00000362183:p.Arg228Cys					GRIK3_uc001cba.1_Missense_Mutation_p.R228C	p.R228C	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			4	817	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	228			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.682C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328590	0.60743	0.0	1.16E-4	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83250	-1.7;-1.7	5.43	5.43	0.79202	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	L	0.28115	0.83	0.58432	D	0.999999	B;B	0.22909	0.077;0.077	B;B	0.13407	0.009;0.009	T	0.71761	-0.4495	10	0.59425	D	0.04	.	14.1179	0.65167	0.0:0.0:0.8498:0.1502	.	228;228	A9Z1Z8;Q13003	.;GRIK3_HUMAN	C	228	ENSP00000362183:R228C;ENSP00000362185:R228C	ENSP00000362183:R228C	R	-	1	0	GRIK3	37110426	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.692000	0.68256	2.571000	0.86741	0.561000	0.74099	CGC		0.597	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		14	23	0	0	0	0	14	23				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						uc001end.3		NA																	6	Substitution - coding silent(6)		prostate(2)|kidney(2)|central_nervous_system(2)		0						c.(1150-1152)TTA>TTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	p.L384L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	64	0	0	0	0	4	64				
RD3	343035	broad.mit.edu	37	1	211652474	211652474	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:211652474G>A	ENST00000367002.4	-	3	1655	c.492C>T	c.(490-492)agC>agT	p.S164S	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	164					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TCCTGATGTCGCTGGCGAAGG	0.701																																						uc001him.2		NA																	0				ovary(1)	1						c.(490-492)AGC>AGT		retinal degeneration 3							29.0	27.0	28.0					1																	211652474		2202	4298	6500	SO:0001819	synonymous_variant	343035				response to stimulus|visual perception			g.chr1:211652474G>A	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.492C>T	1.37:g.211652474G>A						RD3_uc001hin.2_RNA|RD3_uc009xda.2_RNA	p.S164S	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	3	1656	-			164					A8K595	Silent	SNP	ENST00000367002.4	37	c.492C>T	CCDS1498.1																																																																																				0.701	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		9	13	0	0	0	0	9	13				
DISC1	27185	broad.mit.edu	37	1	232162197	232162197	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:232162197C>T	ENST00000439617.2	+	12	2377	c.2324C>T	c.(2323-2325)tCt>tTt	p.S775F	DISC1_ENST00000366637.3_Missense_Mutation_p.S85F	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	775	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TACATCCTTTCTGCAGAACTT	0.443																																						uc001huz.2		NA																	0				skin(1)	1						c.(2323-2325)TCT>TTT		disrupted in schizophrenia 1 isoform L							64.0	61.0	62.0					1																	232162197		1888	4128	6016	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:232162197C>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2324C>T	1.37:g.232162197C>T	ENSP00000403888:p.Ser775Phe					TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pxh.1_Missense_Mutation_p.S807F|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.S398F|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.S653F|DISC1_uc010pxn.1_Missense_Mutation_p.S420F|DISC1_uc001hva.2_Missense_Mutation_p.S753F	p.S775F	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			12	2377	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	775			Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000439617.2	37	c.2324C>T		.	.	.	.	.	.	.	.	.	.	C	13.77	2.336977	0.41398	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576	T	0.09445	2.98	5.31	3.41	0.39046	.	0.207309	0.42682	N	0.000678	T	0.09423	0.0232	N	0.16478	0.41	0.80722	D	1	B;P;B;P;P	0.37207	0.412;0.587;0.412;0.587;0.587	B;B;B;B;B	0.43889	0.148;0.435;0.148;0.307;0.307	T	0.26538	-1.0100	10	0.46703	T	0.11	-2.9528	10.087	0.42423	0.0:0.8419:0.0:0.1581	.	807;653;807;753;775	C4P096;C4P094;E2QRA4;Q9NRI5-2;Q9NRI5	.;.;.;.;DISC1_HUMAN	F	775;753;807;653	ENSP00000403888:S775F	ENSP00000355597:S753F	S	+	2	0	DISC1	230228820	0.987000	0.35691	0.737000	0.30932	0.993000	0.82548	1.514000	0.35834	0.785000	0.33685	0.563000	0.77884	TCT		0.443	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662		4	6	0	0	0	0	4	6				
PTCHD3	374308	broad.mit.edu	37	10	27687277	27687277	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:27687277G>A	ENST00000438700.3	-	4	2367	c.2250C>T	c.(2248-2250)ttC>ttT	p.F750F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	750					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TTGTCTGAATGAAGCCCCGGG	0.318																																						uc001itu.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2248-2250)TTC>TTT		patched domain containing 3							33.0	35.0	35.0					10																	27687277		2201	4298	6499	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27687277G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.2250C>T	10.37:g.27687277G>A							p.F750F	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			4	2368	-			750					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.2250C>T	CCDS31173.1																																																																																				0.318	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		4	24	0	0	0	0	4	24				
LYZL1	84569	broad.mit.edu	37	10	29581596	29581596	+	Silent	SNP	C	C	T	rs192018509		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:29581596C>T	ENST00000375500.3	+	3	483	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	96					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.V142V(1)		central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				ACTGCCATGTCGCCTGCTCAG	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20321	0.0		0.0	False		,,,				2504	0.0					uc001iul.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(424-426)GTC>GTT		lysozyme-like 1							162.0	137.0	146.0					10																	29581596		2203	4300	6503	SO:0001819	synonymous_variant	84569				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:29581596C>T		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.426C>T	10.37:g.29581596C>T							p.V142V	NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN			3	483	+		Breast(68;0.203)	96					Q5T921|Q8WW16	Silent	SNP	ENST00000375500.3	37	c.426C>T	CCDS31174.1																																																																																				0.537	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		15	54	0	0	0	0	15	54				
TET1	80312	broad.mit.edu	37	10	70405630	70405630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:70405630C>A	ENST00000373644.4	+	4	3353	c.3144C>A	c.(3142-3144)tgC>tgA	p.C1048*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1048					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGGAGTATTGCAACCAGTTAC	0.388																																						uc001jok.3		NA																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(3142-3144)TGC>TGA		CXXC finger 6							110.0	105.0	107.0					10																	70405630		2203	4300	6503	SO:0001587	stop_gained	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70405630C>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3144C>A	10.37:g.70405630C>A	ENSP00000362748:p.Cys1048*						p.C1048*	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	3649	+			1048					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Nonsense_Mutation	SNP	ENST00000373644.4	37	c.3144C>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	38	6.832826	0.97873	.	.	ENSG00000138336	ENST00000373644	.	.	.	5.6	-0.649	0.11461	.	4.998200	0.00397	N	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9387	0.41567	0.0:0.4429:0.0:0.5571	.	.	.	.	X	1048	.	ENSP00000362748:C1048X	C	+	3	2	TET1	70075636	0.000000	0.05858	0.000000	0.03702	0.437000	0.31866	-0.169000	0.09911	-0.020000	0.14032	-0.440000	0.05779	TGC		0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		18	80	1	0	2.94e-08	3.3e-08	18	80				
CCSER2	54462	broad.mit.edu	37	10	86131078	86131078	+	Silent	SNP	T	T	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:86131078T>C	ENST00000224756.8	+	2	455	c.270T>C	c.(268-270)gaT>gaC	p.D90D	CCSER2_ENST00000359979.4_Silent_p.D90D|CCSER2_ENST00000372088.2_Silent_p.D90D	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	90					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											ATTCACATGATAAAATAATTG	0.328																																						uc001kdh.1		NA																	0				ovary(3)|skin(1)	4						c.(268-270)GAT>GAC		granule cell antiserum positive 14							50.0	50.0	50.0					10																	86131078		2203	4297	6500	SO:0001819	synonymous_variant	54462							g.chr10:86131078T>C		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.270T>C	10.37:g.86131078T>C						FAM190B_uc001kdg.1_Silent_p.D90D|FAM190B_uc010qmd.1_Silent_p.D90D	p.D90D	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN			2	464	+			90					B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Silent	SNP	ENST00000224756.8	37	c.270T>C	CCDS31235.1																																																																																				0.328	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		3	46	0	0	0	0	3	46				
TAF5	6877	broad.mit.edu	37	10	105146990	105146990	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:105146990G>T	ENST00000369839.3	+	9	1911	c.1888G>T	c.(1888-1890)Gtg>Ttg	p.V630L	TAF5_ENST00000351396.4_Missense_Mutation_p.V575L	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	630					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TCTTGCTGATGTGAATTGTAC	0.423																																						uc001kwv.2		NA																	0				ovary(2)	2						c.(1888-1890)GTG>TTG		TBP-associated factor 5							95.0	93.0	94.0					10																	105146990		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105146990G>T	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1888G>T	10.37:g.105146990G>T	ENSP00000358854:p.Val630Leu					TAF5_uc010qqq.1_Missense_Mutation_p.V575L	p.V630L	NM_006951	NP_008882	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	9	1911	+		Colorectal(252;0.0747)|Breast(234;0.128)	630			WD 4.		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.1888G>T	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748082	0.49257	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.73363	-0.74;-0.74	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79499	0.4456	M	0.75615	2.305	0.80722	D	1	P;P	0.47604	0.886;0.898	B;P	0.45167	0.381;0.472	T	0.82946	-0.0205	10	0.87932	D	0	-11.5714	19.4363	0.94796	0.0:0.0:1.0:0.0	.	575;630	Q15542-2;Q15542	.;TAF5_HUMAN	L	630;575	ENSP00000358854:V630L;ENSP00000311024:V575L	ENSP00000311024:V575L	V	+	1	0	TAF5	105136980	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	5.321000	0.65846	2.573000	0.86826	0.585000	0.79938	GTG		0.423	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			21	39	1	0	7.45e-12	8.54e-12	21	39				
PLEKHA1	59338	broad.mit.edu	37	10	124186509	124186509	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:124186509A>G	ENST00000368990.3	+	11	993	c.862A>G	c.(862-864)Att>Gtt	p.I288V	PLEKHA1_ENST00000368989.2_Missense_Mutation_p.I288V|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.I288V|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.I288V|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.I288V	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	288	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCTGGCGCCATTGTAGCACA	0.473																																						uc001lge.1		NA																	0				kidney(1)	1						c.(862-864)ATT>GTT		pleckstrin homology domain containing, family A							129.0	123.0	125.0					10																	124186509		2203	4300	6503	SO:0001583	missense	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124186509A>G	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.862A>G	10.37:g.124186509A>G	ENSP00000357986:p.Ile288Val					PLEKHA1_uc001lgf.1_Missense_Mutation_p.I288V|PLEKHA1_uc001lgg.1_Missense_Mutation_p.I288V|PLEKHA1_uc001lgh.2_Missense_Mutation_p.I288V	p.I288V	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN			11	985	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	288			PH 2.		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	c.862A>G	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.576448	0.45902	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	5.78	5.78	0.91487	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	L	0.31371	0.925	0.80722	D	1	P;B	0.39404	0.672;0.193	B;B	0.38616	0.277;0.121	T	0.08269	-1.0730	10	0.21014	T	0.42	-21.7203	16.4053	0.83662	1.0:0.0:0.0:0.0	.	288;288	B3KQ55;Q9HB21	.;PKHA1_HUMAN	V	288	ENSP00000357986:I288V;ENSP00000357985:I288V;ENSP00000357984:I288V;ENSP00000438608:I288V;ENSP00000394416:I288V	ENSP00000357984:I288V	I	+	1	0	PLEKHA1	124176499	1.000000	0.71417	0.996000	0.52242	0.821000	0.46438	8.772000	0.91757	2.333000	0.79357	0.482000	0.46254	ATT		0.473	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		21	43	0	0	0	0	21	43				
DPYSL4	10570	broad.mit.edu	37	10	134008356	134008356	+	Silent	SNP	C	C	T	rs371272756		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:134008356C>T	ENST00000338492.4	+	4	485	c.321C>T	c.(319-321)caC>caT	p.H107H	DPYSL4_ENST00000368627.1_Silent_p.H30H|DPYSL4_ENST00000368629.1_Silent_p.H30H|DPYSL4_ENST00000493882.1_3'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	107					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CAGTGGACCACGTCTTCCCCG	0.642																																						uc009ybb.2		NA																	0				central_nervous_system(2)	2						c.(319-321)CAC>CAT		dihydropyrimidinase-like 4		C		1,4405	2.1+/-5.4	0,1,2202	80.0	72.0	75.0		321	-1.8	1.0	10		75	0,8596		0,0,4298	no	coding-synonymous	DPYSL4	NM_006426.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		107/573	134008356	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134008356C>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.321C>T	10.37:g.134008356C>T							p.H107H	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	4	475	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	107					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.321C>T	CCDS7665.1																																																																																				0.642	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			26	77	0	0	0	0	26	77				
TOLLIP	54472	broad.mit.edu	37	11	1309866	1309866	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:1309866G>A	ENST00000317204.6	-	4	630	c.507C>T	c.(505-507)gtC>gtT	p.V169V	TOLLIP_ENST00000525159.1_Silent_p.V108V|TOLLIP_ENST00000542915.1_Silent_p.V119V|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000263646.7_Silent_p.V141V|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000527886.1_Silent_p.V100V	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	169					autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CGTAGGACATGACGAGGTTGA	0.647																																						uc001lte.2		NA																	0					0						c.(505-507)GTC>GTT		toll interacting protein							178.0	109.0	133.0					11																	1309866		2202	4298	6500	SO:0001819	synonymous_variant	54472				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding	g.chr11:1309866G>A	AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.507C>T	11.37:g.1309866G>A						TOLLIP_uc001ltd.2_Silent_p.V100V|TOLLIP_uc009ycu.2_Silent_p.V108V|TOLLIP_uc001ltf.2_Silent_p.V119V	p.V169V	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)	4	618	-		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	169					B3KXC6|Q9H9E6|Q9UJ69	Silent	SNP	ENST00000317204.6	37	c.507C>T	CCDS7723.1																																																																																				0.647	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257162.2	NM_019009		13	25	0	0	0	0	13	25				
NELL1	4745	broad.mit.edu	37	11	21594899	21594899	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:21594899C>G	ENST00000357134.5	+	19	2478	c.2326C>G	c.(2326-2328)Ctt>Gtt	p.L776V	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000298925.5_Missense_Mutation_p.L804V|NELL1_ENST00000532434.1_Missense_Mutation_p.L729V|NELL1_ENST00000325319.5_Missense_Mutation_p.L719V	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	776					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGTTTCACGGCTTAGTGGCTC	0.493																																						uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(2326-2328)CTT>GTT		nel-like 1 isoform 1 precursor							174.0	152.0	160.0					11																	21594899		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21594899C>G	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2326C>G	11.37:g.21594899C>G	ENSP00000349654:p.Leu776Val					NELL1_uc001mqf.2_Missense_Mutation_p.L729V|NELL1_uc009yid.2_Missense_Mutation_p.L804V|NELL1_uc010rdo.1_Missense_Mutation_p.L719V|NELL1_uc010rdp.1_Missense_Mutation_p.L489V|NELL1_uc001mqh.2_Missense_Mutation_p.L321V	p.L776V	NM_006157	NP_006148	Q92832	NELL1_HUMAN			19	2479	+			776			VWFC 5.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2326C>G	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066402	0.36470	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.79141	-1.24;-1.21;-1.13;-1.12	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000002	D	0.85712	0.5760	L	0.57536	1.79	0.38945	D	0.958228	D;P;D;D;P	0.62365	0.972;0.953;0.982;0.991;0.953	P;B;P;D;B	0.65684	0.648;0.446;0.664;0.937;0.371	D	0.83439	0.0042	10	0.30854	T	0.27	-12.7507	19.8994	0.96980	0.0:1.0:0.0:0.0	.	719;804;321;729;776	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	V	804;776;719;729	ENSP00000298925:L804V;ENSP00000349654:L776V;ENSP00000317837:L719V;ENSP00000437170:L729V	ENSP00000298925:L804V	L	+	1	0	NELL1	21551475	1.000000	0.71417	0.966000	0.40874	0.056000	0.15407	2.123000	0.41996	2.707000	0.92482	0.555000	0.69702	CTT		0.493	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		10	107	0	0	0	0	10	107				
CFL1	1072	broad.mit.edu	37	11	65623573	65623573	+	Silent	SNP	G	G	A	rs144718277		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:65623573G>A	ENST00000525451.2	-	3	859	c.144C>T	c.(142-144)atC>atT	p.I48I	CFL1_ENST00000527344.1_Silent_p.I31I|CFL1_ENST00000531407.1_Silent_p.I31I|CFL1_ENST00000524553.1_Silent_p.I31I|CFL1_ENST00000308162.5_Silent_p.I48I|CFL1_ENST00000534769.1_Silent_p.I86I|CFL1_ENST00000531413.1_Silent_p.I31I			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	48	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin cytoskeleton organization (GO:0030036)|actin filament depolymerization (GO:0030042)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytoskeleton organization (GO:0007010)|establishment of cell polarity (GO:0030010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|mitotic cytokinesis (GO:0000281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell size (GO:0045792)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament depolymerization (GO:0030836)|protein import into nucleus (GO:0006606)|protein phosphorylation (GO:0006468)|regulation of cell morphogenesis (GO:0022604)|response to amino acid (GO:0043200)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CCTCCTCCAGGATGATGTTCT	0.562																																					Esophageal Squamous(90;820 1366 3932 32351 42291)	uc001ofs.2		NA																	0					0						c.(142-144)ATC>ATT		cofilin 1 (non-muscle)		G		1,4401	2.1+/-5.4	0,1,2200	123.0	109.0	114.0		144	0.9	1.0	11	dbSNP_134	114	0,8594		0,0,4297	no	coding-synonymous	CFL1	NM_005507.2		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		48/167	65623573	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	1072				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr11:65623573G>A	X95404	CCDS8114.1	11q13.1	2010-12-03			ENSG00000172757	ENSG00000172757			1874	protein-coding gene	gene with protein product		601442		CFL		8800436	Standard	NM_005507		Approved		uc001ofs.3	P23528		ENST00000525451.2:c.144C>T	11.37:g.65623573G>A						CFL1_uc001oft.2_Silent_p.I48I|CFL1_uc001ofu.2_3'UTR	p.I48I	NM_005507	NP_005498	P23528	COF1_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	2	378	-			48			ADF-H.		B3KUQ1|Q53Y87|Q9UCA2	Silent	SNP	ENST00000525451.2	37	c.144C>T	CCDS8114.1																																																																																				0.562	CFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390701.3	NM_005507		5	54	0	0	0	0	5	54				
CFL1	1072	broad.mit.edu	37	11	65623576	65623576	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:65623576G>A	ENST00000525451.2	-	3	856	c.141C>T	c.(139-141)atC>atT	p.I47I	CFL1_ENST00000527344.1_Silent_p.I30I|CFL1_ENST00000531407.1_Silent_p.I30I|CFL1_ENST00000524553.1_Silent_p.I30I|CFL1_ENST00000308162.5_Silent_p.I47I|CFL1_ENST00000534769.1_Silent_p.I85I|CFL1_ENST00000531413.1_Silent_p.I30I			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	47	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin cytoskeleton organization (GO:0030036)|actin filament depolymerization (GO:0030042)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytoskeleton organization (GO:0007010)|establishment of cell polarity (GO:0030010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|mitotic cytokinesis (GO:0000281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell size (GO:0045792)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament depolymerization (GO:0030836)|protein import into nucleus (GO:0006606)|protein phosphorylation (GO:0006468)|regulation of cell morphogenesis (GO:0022604)|response to amino acid (GO:0043200)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CCTCCAGGATGATGTTCTTCT	0.557																																					Esophageal Squamous(90;820 1366 3932 32351 42291)	uc001ofs.2		NA																	0					0						c.(139-141)ATC>ATT		cofilin 1 (non-muscle)							122.0	107.0	112.0					11																	65623576		2201	4297	6498	SO:0001819	synonymous_variant	1072				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr11:65623576G>A	X95404	CCDS8114.1	11q13.1	2010-12-03			ENSG00000172757	ENSG00000172757			1874	protein-coding gene	gene with protein product		601442		CFL		8800436	Standard	NM_005507		Approved		uc001ofs.3	P23528		ENST00000525451.2:c.141C>T	11.37:g.65623576G>A						CFL1_uc001oft.2_Silent_p.I47I|CFL1_uc001ofu.2_3'UTR	p.I47I	NM_005507	NP_005498	P23528	COF1_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	2	375	-			47			ADF-H.		B3KUQ1|Q53Y87|Q9UCA2	Silent	SNP	ENST00000525451.2	37	c.141C>T	CCDS8114.1																																																																																				0.557	CFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390701.3	NM_005507		4	58	0	0	0	0	4	58				
PZP	5858	broad.mit.edu	37	12	9349218	9349218	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr12:9349218C>G	ENST00000261336.2	-	9	959	c.931G>C	c.(931-933)Ggc>Cgc	p.G311R	PZP_ENST00000381997.2_Missense_Mutation_p.G180R	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	311					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATTTCAAAGCCCGTATTTGTA	0.393																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(931-933)GGC>CGC		pregnancy-zone protein precursor							143.0	141.0	142.0					12																	9349218		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9349218C>G	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.931G>C	12.37:g.9349218C>G	ENSP00000261336:p.Gly311Arg					PZP_uc009zgl.2_Missense_Mutation_p.G180R	p.G311R	NM_002864	NP_002855					9	960	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.931G>C	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	6.720	0.501612	0.12822	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.35048	1.51;1.33	3.57	2.67	0.31697	.	0.671082	0.12757	U	0.441673	T	0.35038	0.0918	L	0.56396	1.775	0.09310	N	1	P;B	0.45531	0.86;0.01	B;B	0.43754	0.43;0.019	T	0.11275	-1.0594	10	0.33940	T	0.23	.	7.5599	0.27845	0.0:0.872:0.0:0.128	.	180;311	P20742-2;P20742	.;PZP_HUMAN	R	311;180	ENSP00000261336:G311R;ENSP00000371427:G180R	ENSP00000261336:G311R	G	-	1	0	PZP	9240485	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.176000	0.31957	0.828000	0.34709	0.456000	0.33151	GGC		0.393	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		20	58	0	0	0	0	20	58				
KMT2D	8085	broad.mit.edu	37	12	49447022	49447022	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr12:49447022C>A	ENST00000301067.7	-	7	921	c.922G>T	c.(922-924)Gag>Tag	p.E308*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	308	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCAGTTCCTCCATGGGTGGT	0.478																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(922-924)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							205.0	201.0	202.0					12																	49447022		2029	4166	6195	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49447022C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.922G>T	12.37:g.49447022C>A	ENSP00000301067:p.Glu308*	HNSCC(34;0.089)					p.E308*	NM_003482	NP_003473	O14686	MLL2_HUMAN			7	922	-			308			PHD-type 2.|RING-type 2; degenerate.|Cys-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.922G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219866	0.95139	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.78	1.8	0.24995	.	0.000000	0.37136	N	0.002235	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.5308	0.16983	0.112:0.6195:0.1202:0.1484	.	.	.	.	X	308	.	ENSP00000301067:E308X	E	-	1	0	MLL2	47733289	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.148000	0.50647	0.800000	0.34041	0.561000	0.74099	GAG		0.478	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			25	92	1	0	1.32e-05	1.46e-05	25	92				
CCNA1	8900	broad.mit.edu	37	13	37014297	37014297	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr13:37014297G>A	ENST00000255465.4	+	6	1339	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	CCNA1_ENST00000418263.1_Missense_Mutation_p.V358I|CCNA1_ENST00000440264.1_Missense_Mutation_p.V315I|CCNA1_ENST00000449823.1_Missense_Mutation_p.V315I			P78396	CCNA1_HUMAN	cyclin A1	359					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGGAGTGTGCGTCAGGACTGA	0.463																																						uc001uvr.3		NA																	0				lung(2)|skin(2)|ovary(1)	5						c.(1075-1077)GTC>ATC		cyclin A1 isoform a							129.0	128.0	128.0					13																	37014297		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37014297G>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1075G>A	13.37:g.37014297G>A	ENSP00000255465:p.Val359Ile					CCNA1_uc010teo.1_Missense_Mutation_p.V315I|CCNA1_uc010abq.2_Missense_Mutation_p.V315I|CCNA1_uc010abp.2_Missense_Mutation_p.V315I|CCNA1_uc001uvs.3_Missense_Mutation_p.V358I|CCNA1_uc010abr.2_RNA	p.V359I	NM_003914	NP_003905	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	6	1425	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	359					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.1075G>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	4.656	0.121950	0.08931	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	6.03	-4.81	0.03180	Cyclin, C-terminal (1);Cyclin-like (3);	0.952687	0.08879	N	0.880371	T	0.10508	0.0257	N	0.17379	0.485	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.003;0.005	T	0.33701	-0.9858	10	0.34782	T	0.22	.	7.0835	0.25244	0.5917:0.1063:0.2298:0.0722	.	358;359	P78396-2;P78396	.;CCNA1_HUMAN	I	315;315;358;359	ENSP00000400666:V315I;ENSP00000409873:V315I;ENSP00000396479:V358I;ENSP00000255465:V359I	ENSP00000255465:V359I	V	+	1	0	CCNA1	35912297	0.000000	0.05858	0.000000	0.03702	0.399000	0.30720	-2.581000	0.00906	-0.908000	0.03857	-0.263000	0.10527	GTC		0.463	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		30	24	0	0	0	0	30	24				
STRN3	29966	broad.mit.edu	37	14	31380280	31380280	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr14:31380280G>A	ENST00000357479.5	-	13	1883	c.1687C>T	c.(1687-1689)Ccg>Tcg	p.P563S	STRN3_ENST00000366206.2_5'Flank|STRN3_ENST00000355683.5_Missense_Mutation_p.P479S	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	563					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P479T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGGACTCGGCATATTCCAC	0.368																																						uc001wqu.2		NA																	1	Substitution - Missense(1)		NS(1)		0						c.(1687-1689)CCG>TCG		nuclear autoantigen isoform 1							100.0	90.0	93.0					14																	31380280		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31380280G>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1687C>T	14.37:g.31380280G>A	ENSP00000350071:p.Pro563Ser					STRN3_uc001wqv.2_Missense_Mutation_p.P479S|STRN3_uc010tpj.1_RNA	p.P563S	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	13	1903	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		563			WD 2.		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.1687C>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052305	0.93793	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.80480	-1.38;-1.38	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	N	0.25647	0.755	0.80722	D	1	D;D	0.89917	0.959;1.0	P;D	0.83275	0.882;0.996	D	0.86165	0.1596	10	0.72032	D	0.01	-0.2993	20.5407	0.99260	0.0:0.0:1.0:0.0	.	479;563	Q13033-2;Q13033	.;STRN3_HUMAN	S	479;563	ENSP00000347909:P479S;ENSP00000350071:P563S	ENSP00000347909:P479S	P	-	1	0	STRN3	30450031	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.920000	0.87521	2.865000	0.98341	0.655000	0.94253	CCG		0.368	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		3	70	0	0	0	0	3	70				
BAHD1	22893	broad.mit.edu	37	15	40758306	40758306	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr15:40758306C>T	ENST00000416165.1	+	7	2391	c.2320C>T	c.(2320-2322)Cgc>Tgc	p.R774C	BAHD1_ENST00000560846.1_Missense_Mutation_p.R771C|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000561234.1_Missense_Mutation_p.R773C	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	774	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCGCCACGGGCGCATCCTTAA	0.622																																						uc001zlu.2		NA																	0					0						c.(2320-2322)CGC>TGC		bromo adjacent homology domain containing 1							83.0	87.0	86.0					15																	40758306		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40758306C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2320C>T	15.37:g.40758306C>T	ENSP00000396976:p.Arg774Cys					BAHD1_uc001zlt.2_Missense_Mutation_p.R773C|BAHD1_uc010bbp.1_Missense_Mutation_p.R770C|BAHD1_uc001zlv.2_Missense_Mutation_p.R771C	p.R774C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	7	2391	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	774			BAH.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.2320C>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877614	0.91664	.	.	ENSG00000140320	ENST00000416165	T	0.34667	1.35	5.6	5.6	0.85130	Bromo adjacent homology (BAH) domain (2);	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	M	0.80183	2.485	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	T	0.68800	-0.5313	10	0.87932	D	0	-18.9565	19.6179	0.95643	0.0:1.0:0.0:0.0	.	771;774;773	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	C	774	ENSP00000396976:R774C	ENSP00000396976:R774C	R	+	1	0	BAHD1	38545598	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.818000	0.86416	2.653000	0.90120	0.563000	0.77884	CGC		0.622	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		20	64	0	0	0	0	20	64				
ZFAND6	54469	broad.mit.edu	37	15	80412738	80412738	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr15:80412738T>G	ENST00000261749.6	+	3	474	c.52T>G	c.(52-54)Tgt>Ggt	p.C18G	ZFAND6_ENST00000558087.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000558688.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000559157.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000559835.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000561060.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000558494.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000559775.1_Missense_Mutation_p.C18G	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	18					apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TTCCACTGGCTGTGGATTTTA	0.393																																						uc002bfe.1		NA																	0					0						c.(52-54)TGT>GGT		zinc finger, AN1-type domain 6							116.0	106.0	109.0					15																	80412738		2203	4300	6503	SO:0001583	missense	54469						DNA binding|zinc ion binding	g.chr15:80412738T>G	BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"""Zinc fingers, AN1-type domain containing"""	30164	protein-coding gene	gene with protein product	"""protein associated with PRK1"""	610183	"""zinc finger, A20 domain containing 3"""	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.52T>G	15.37:g.80412738T>G	ENSP00000261749:p.Cys18Gly					ZFAND6_uc002bff.1_Missense_Mutation_p.C18G|ZFAND6_uc002bfg.1_Missense_Mutation_p.C18G|ZFAND6_uc002bfh.1_Missense_Mutation_p.C18G|ZFAND6_uc002bfi.1_Missense_Mutation_p.C18G	p.C18G	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN			3	363	+			18			A20-type.		D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Missense_Mutation	SNP	ENST00000261749.6	37	c.52T>G	CCDS10313.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561320	0.65538	.	.	ENSG00000086666	ENST00000261749	D	0.99861	-7.26	5.97	5.97	0.96955	Zinc finger, A20-type (3);	0.000000	0.85682	D	0.000000	D	0.99914	0.9959	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.995	D	0.96093	0.9063	10	0.87932	D	0	-2.7423	16.4534	0.84003	0.0:0.0:0.0:1.0	.	18;18	Q6FIF0-2;Q6FIF0	.;ZFAN6_HUMAN	G	18	ENSP00000261749:C18G	ENSP00000261749:C18G	C	+	1	0	ZFAND6	78199793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.849000	0.86908	2.285000	0.76669	0.477000	0.44152	TGT		0.393	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291368.1	NM_019006		29	58	0	0	0	0	29	58				
HYDIN	54768	broad.mit.edu	37	16	70891747	70891747	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr16:70891747A>T	ENST00000393567.2	-	72	12306	c.12156T>A	c.(12154-12156)caT>caA	p.H4052Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4052					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGATGCCCAGATGGAAAGGTG	0.468																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(12151-12153)CAT>CAA		hydrocephalus inducing isoform a							61.0	62.0	61.0					16																	70891747		1924	4147	6071	SO:0001583	missense	54768							g.chr16:70891747A>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12156T>A	16.37:g.70891747A>T	ENSP00000377197:p.His4052Gln					HYDIN_uc010cfy.2_RNA	p.H4051Q	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			72	12281	-		Ovarian(137;0.0654)	4052					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.12153T>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	8.485	0.860717	0.17178	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00760	5.73	5.86	1.87	0.25490	.	0.000000	0.33980	U	0.004363	T	0.00754	0.0025	L	0.43757	1.38	0.80722	D	1	B	0.14438	0.01	B	0.24541	0.054	T	0.56269	-0.8007	10	0.13108	T	0.6	.	4.1752	0.10348	0.5706:0.0:0.2874:0.142	.	4051	F8WD23	.	Q	4052;4051	ENSP00000377197:H4052Q	ENSP00000313052:H4051Q	H	-	3	2	HYDIN	69449248	0.989000	0.36119	0.975000	0.42487	0.345000	0.29048	0.249000	0.18216	0.043000	0.15746	0.418000	0.28097	CAT		0.468	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			3	9	0	0	0	0	3	9				
SLC13A5	284111	broad.mit.edu	37	17	6599181	6599181	+	Silent	SNP	G	G	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:6599181G>T	ENST00000433363.2	-	7	1152	c.919C>A	c.(919-921)Cgg>Agg	p.R307R	SLC13A5_ENST00000573648.1_Silent_p.R307R|SLC13A5_ENST00000381074.4_Silent_p.R264R|SLC13A5_ENST00000293800.6_Silent_p.R290R	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	307					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCCAGCTTCCGGTACTCCTCC	0.567																																						uc002gdj.2		NA																	0					0						c.(919-921)CGG>AGG		solute carrier family 13, member 5 isoform a							133.0	137.0	136.0					17																	6599181		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6599181G>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.919C>A	17.37:g.6599181G>T						SLC13A5_uc010vtf.1_Silent_p.R307R|SLC13A5_uc010clq.2_Silent_p.R264R|SLC13A5_uc002gdk.2_Silent_p.R290R|SLC13A5_uc002gdl.1_Silent_p.R289R	p.R307R	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN			7	1007	-			307					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.919C>A	CCDS11079.1																																																																																				0.567	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		26	156	1	0	6.07e-21	7.09e-21	26	156				
DNAH9	1770	broad.mit.edu	37	17	11725866	11725866	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:11725866G>C	ENST00000262442.4	+	47	9030	c.8962G>C	c.(8962-8964)Gca>Cca	p.A2988P	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2988P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2988	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCCTCAGCAAGCATTGGAGTC	0.532																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(8962-8964)GCA>CCA		dynein, axonemal, heavy chain 9 isoform 2							132.0	127.0	128.0					17																	11725866		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11725866G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8962G>C	17.37:g.11725866G>C	ENSP00000262442:p.Ala2988Pro					DNAH9_uc010coo.2_Missense_Mutation_p.A2282P	p.A2988P	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	47	9030	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2988			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8962G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159470	0.78226	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.56776	0.44;0.44	3.68	3.68	0.42216	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	D	0.000001	T	0.81983	0.4938	H	0.99922	4.955	0.80722	D	1	P	0.39131	0.661	P	0.49708	0.62	D	0.89973	0.4095	10	0.87932	D	0	.	15.9531	0.79859	0.0:0.0:1.0:0.0	.	2988	Q9NYC9	DYH9_HUMAN	P	2988;2988;1570	ENSP00000262442:A2988P;ENSP00000414874:A2988P	ENSP00000262442:A2988P	A	+	1	0	DNAH9	11666591	1.000000	0.71417	0.550000	0.28217	0.662000	0.39071	9.147000	0.94646	2.056000	0.61249	0.563000	0.77884	GCA		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		7	175	0	0	0	0	7	175				
KRT39	390792	broad.mit.edu	37	17	39118800	39118800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:39118800G>A	ENST00000355612.2	-	4	759	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	242	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGCTGACACTGTAAAGAATTG	0.418																																						uc002hvo.1		NA																	0					0						c.(724-726)CAG>TAG		type I hair keratin KA35							122.0	123.0	123.0					17																	39118800		2203	4296	6499	SO:0001587	stop_gained	390792					intermediate filament	structural molecule activity	g.chr17:39118800G>A	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.724C>T	17.37:g.39118800G>A	ENSP00000347823:p.Gln242*					KRT39_uc010wfm.1_5'UTR	p.Q242*	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			4	760	-		Breast(137;0.00043)|Ovarian(249;0.15)	242			Rod.|Coil 1B.		B2RXK6|Q6IFU6	Nonsense_Mutation	SNP	ENST00000355612.2	37	c.724C>T	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	G	36	5.702260	0.96812	.	.	ENSG00000196859	ENST00000355612	.	.	.	5.7	4.73	0.59995	.	0.000000	0.42548	D	0.000683	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.2725	0.37679	0.0735:0.0:0.7826:0.1439	.	.	.	.	X	242	.	ENSP00000347823:Q242X	Q	-	1	0	KRT39	36372326	0.083000	0.21467	1.000000	0.80357	0.959000	0.62525	1.634000	0.37123	1.420000	0.47138	0.655000	0.94253	CAG		0.418	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		4	133	0	0	0	0	4	133				
KRT36	8689	broad.mit.edu	37	17	39644901	39644901	+	Missense_Mutation	SNP	G	G	A	rs148033888	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:39644901G>A	ENST00000328119.6	-	2	534	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	KRT36_ENST00000393986.2_Missense_Mutation_p.R129W	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	179	Coil 1B.|Rod.		R -> Q (in dbSNP:rs9675246).		regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CACTTGGTCCGGAAGTCGTCA	0.552																																						uc002hwt.2		NA																	0					0						c.(535-537)CGG>TGG		keratin 36		G	TRP/ARG	0,4406		0,0,2203	127.0	116.0	120.0		535	2.3	1.0	17	dbSNP_134	120	11,8589	8.4+/-32.0	0,11,4289	yes	missense	KRT36	NM_003771.4	101	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	probably-damaging	179/468	39644901	11,12995	2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39644901G>A	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.535C>T	17.37:g.39644901G>A	ENSP00000329165:p.Arg179Trp						p.R179W	NM_003771	NP_003762	O76013	KRT36_HUMAN			2	535	-		Breast(137;0.000286)	179			Rod.|Coil 1B.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.535C>T	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734767	0.69189	0.0	0.001279	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.91351	-2.83;-2.83	5.84	2.33	0.28932	Filament (1);	0.000000	0.45361	D	0.000365	D	0.97009	0.9023	H	0.99249	4.485	0.33613	D	0.603775	D	0.89917	1.0	D	0.97110	1.0	D	0.97409	1.0001	10	0.87932	D	0	.	10.6827	0.45823	0.0687:0.0:0.5182:0.4131	.	179	O76013	KRT36_HUMAN	W	129;179	ENSP00000377555:R129W;ENSP00000329165:R179W	ENSP00000329165:R179W	R	-	1	2	KRT36	36898427	0.273000	0.24181	1.000000	0.80357	0.964000	0.63967	0.434000	0.21494	0.762000	0.33152	0.563000	0.77884	CGG		0.552	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		23	42	0	0	0	0	23	42				
TRIM37	4591	broad.mit.edu	37	17	57125153	57125153	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:57125153G>A	ENST00000262294.7	-	16	1817	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L	TRIM37_ENST00000393066.3_Silent_p.L520L|TRIM37_ENST00000393065.2_Silent_p.L486L|TRIM37_ENST00000376149.3_Silent_p.L398L	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	520					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACAAGATCCAGATCCAGATCT	0.418									Mulibrey Nanism																													uc002iwy.3		NA																	0				lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(1558-1560)CTG>TTG		tripartite motif-containing 37 protein							115.0	103.0	107.0					17																	57125153		2203	4300	6503	SO:0001819	synonymous_variant	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57125153G>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1558C>T	17.37:g.57125153G>A						TRIM37_uc002iwz.3_Silent_p.L520L|TRIM37_uc002ixa.3_Silent_p.L398L|TRIM37_uc010woc.1_Silent_p.L486L	p.L520L	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			16	2002	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		520					Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	37	c.1558C>T	CCDS32694.1																																																																																				0.418	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		5	57	0	0	0	0	5	57				
ZNF236	7776	broad.mit.edu	37	18	74611013	74611013	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr18:74611013T>A	ENST00000253159.8	+	11	1921	c.1723T>A	c.(1723-1725)Ttt>Att	p.F575I	ZNF236_ENST00000320610.9_Missense_Mutation_p.F577I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	575					cellular response to glucose stimulus (GO:0071333)|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(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGACAAAAAATTTCGAACCTC	0.383																																						uc002lmi.2		NA																	0				ovary(4)	4						c.(1723-1725)TTT>ATT		zinc finger protein 236							117.0	107.0	110.0					18																	74611013		1849	4096	5945	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74611013T>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1723T>A	18.37:g.74611013T>A	ENSP00000253159:p.Phe575Ile					ZNF236_uc002lmj.2_RNA	p.F575I	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	11	1921	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	575			C2H2-type 13.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.1723T>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	T	32	5.149273	0.94645	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.47528	0.84;0.84	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	H	0.95611	3.695	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.85094	0.0953	10	0.87932	D	0	.	14.8972	0.70651	0.0:0.0:0.0:1.0	.	575	Q9UL36	ZN236_HUMAN	I	575	ENSP00000253159:F575I;ENSP00000444524:F575I	ENSP00000253159:F575I	F	+	1	0	ZNF236	72740001	1.000000	0.71417	0.849000	0.33467	0.989000	0.77384	7.751000	0.85126	1.928000	0.55862	0.482000	0.46254	TTT		0.383	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			5	63	0	0	0	0	5	63				
ZNF700	90592	broad.mit.edu	37	19	12058339	12058339	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr19:12058339G>C	ENST00000254321.5	+	3	344	c.201G>C	c.(199-201)tgG>tgC	p.W67C	ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.W49C|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	67	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)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GAAAAAAATGGAGTGACCAGA	0.358																																						uc002msu.2		NA																	0					0						c.(199-201)TGG>TGC		zinc finger protein 700							86.0	92.0	90.0					19																	12058339		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12058339G>C	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.201G>C	19.37:g.12058339G>C	ENSP00000254321:p.Trp67Cys					ZNF700_uc010xme.1_Missense_Mutation_p.W85C|ZNF763_uc010xmf.1_Intron	p.W67C	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			3	327	+			67			KRAB.		B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.201G>C	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	4.855	0.159013	0.09236	.	.	ENSG00000196757	ENST00000254321	T	0.00801	5.68	0.672	0.672	0.17935	Krueppel-associated box (3);	.	.	.	.	T	0.01592	0.0051	L	0.48362	1.52	0.09310	N	0.99999	D	0.60575	0.988	P	0.50231	0.635	T	0.53933	-0.8368	9	0.38643	T	0.18	.	7.1436	0.25570	1.0E-4:0.0:0.9999:0.0	.	67	Q9H0M5	ZN700_HUMAN	C	67	ENSP00000254321:W67C	ENSP00000254321:W67C	W	+	3	0	ZNF700	11919339	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	0.162000	0.16501	0.623000	0.30267	0.305000	0.20034	TGG		0.358	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		3	89	0	0	0	0	3	89				
ZNF526	116115	broad.mit.edu	37	19	42728645	42728645	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr19:42728645G>A	ENST00000301215.3	+	3	315	c.90G>A	c.(88-90)atG>atA	p.M30I		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	30					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CGGCAGAGATGATGGAGATGT	0.557																																						uc002osz.1		NA																	0					0						c.(88-90)ATG>ATA		zinc finger protein 526							195.0	159.0	171.0					19																	42728645		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42728645G>A	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.90G>A	19.37:g.42728645G>A	ENSP00000301215:p.Met30Ile						p.M30I	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	246	+		Prostate(69;0.0704)	30					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.90G>A	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	G	0.420	-0.908700	0.02434	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.07800	3.16	3.94	0.473	0.16763	.	2.110950	0.02635	N	0.104756	T	0.05547	0.0146	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35400	-0.9790	10	0.27785	T	0.31	-0.2977	4.4967	0.11840	0.2089:0.1826:0.6086:0.0	.	30	Q8TF50	ZN526_HUMAN	I	30	ENSP00000301215:M30I	ENSP00000301215:M30I	M	+	3	0	ZNF526	47420485	0.002000	0.14202	0.000000	0.03702	0.057000	0.15508	0.296000	0.19083	0.216000	0.20781	0.462000	0.41574	ATG		0.557	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		5	85	0	0	0	0	5	85				
ZNF761	388561	broad.mit.edu	37	19	53959551	53959551	+	RNA	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr19:53959551A>G	ENST00000454407.1	+	0	2243							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAAATACATCAGAAAATTCAT	0.408																																						uc010eqp.2		NA																	0				ovary(1)	1						c.(1789-1791)CAG>CGG		zinc finger protein 761							105.0	109.0	107.0					19																	53959551		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959551A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959551A>G						ZNF761_uc010ydy.1_Missense_Mutation_p.Q543R|ZNF761_uc002qbt.1_Missense_Mutation_p.Q543R	p.Q597R	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	2248	+			597			C2H2-type 14; degenerate.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1790A>G																																																																																					0.408	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		24	60	0	0	0	0	24	60				
GCKR	2646	broad.mit.edu	37	2	27728586	27728586	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:27728586C>T	ENST00000264717.2	+	10	815	c.752C>T	c.(751-753)cCc>cTc	p.P251L	GCKR_ENST00000424318.2_Splice_Site_p.P61L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	251	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.			P -> V (in Ref. 2; CAB61828). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CCTCTTCAGCCCGAGGGTCTC	0.552																																						uc002rky.2		NA																	0				ovary(2)	2						c.(751-753)CCC>CTC		glucokinase regulatory protein							63.0	61.0	62.0					2																	27728586		2203	4300	6503	SO:0001630	splice_region_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27728586C>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.751-1C>T	2.37:g.27728586C>T						GCKR_uc010ezd.2_Missense_Mutation_p.P251L|GCKR_uc010ylu.1_Missense_Mutation_p.P61L	p.P251L	NM_001486	NP_001477	Q14397	GCKR_HUMAN			10	818	+	Acute lymphoblastic leukemia(172;0.155)		251	P -> V (in Ref. 2; CAB61828).		SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.752C>T	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.776181	0.49786	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	D;T	0.85773	-2.03;-0.01	3.88	3.88	0.44766	Glucokinase regulatory, conserved site (1);Sugar isomerase (SIS) (1);	0.000000	0.64402	D	0.000002	D	0.93530	0.7935	M	0.93106	3.38	0.47778	D	0.999517	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.94842	0.8006	10	0.87932	D	0	-8.1556	13.7334	0.62802	0.0:1.0:0.0:0.0	.	61;251;251	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	L	251;61	ENSP00000264717:P251L;ENSP00000409109:P61L	ENSP00000264717:P251L	P	+	2	0	GCKR	27582090	0.996000	0.38824	0.983000	0.44433	0.111000	0.19643	4.322000	0.59215	2.162000	0.67917	0.655000	0.94253	CCC		0.552	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486	Missense_Mutation	8	54	0	0	0	0	8	54				
DPP10	57628	broad.mit.edu	37	2	116534856	116534856	+	Missense_Mutation	SNP	G	G	A	rs537818684		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:116534856G>A	ENST00000410059.1	+	14	1774	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N	DPP10_ENST00000310323.8_Missense_Mutation_p.D425N|DPP10_ENST00000409163.1_Missense_Mutation_p.D382N|DPP10_ENST00000393147.2_Missense_Mutation_p.D436N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	432						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTTGGCATACGATGAAACTAC	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		18208	0.0		0.001	False		,,,				2504	0.0					uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1294-1296)GAT>AAT		dipeptidyl peptidase 10 isoform long							116.0	110.0	112.0					2																	116534856		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116534856G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1294G>A	2.37:g.116534856G>A	ENSP00000386565:p.Asp432Asn					DPP10_uc002tlb.1_Missense_Mutation_p.D382N|DPP10_uc002tlc.1_Missense_Mutation_p.D428N|DPP10_uc002tle.2_Missense_Mutation_p.D436N|DPP10_uc002tlf.1_Missense_Mutation_p.D425N	p.D432N	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			14	1751	+			432			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1294G>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091430	0.55968	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.97	4.09	0.47781	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.105435	0.64402	N	0.000007	T	0.46483	0.1395	L	0.60904	1.88	0.53005	D	0.999963	P;D;P;P	0.76494	0.781;0.999;0.912;0.817	B;D;B;B	0.63488	0.256;0.915;0.373;0.373	T	0.42050	-0.9474	10	0.51188	T	0.08	-17.8158	11.1809	0.48627	0.0894:0.0:0.9106:0.0	.	425;436;428;432	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	432;382;436;425;382	ENSP00000386565:D432N;ENSP00000387038:D382N;ENSP00000376855:D436N;ENSP00000309066:D425N	ENSP00000309066:D425N	D	+	1	0	DPP10	116251326	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	6.256000	0.72473	1.450000	0.47717	0.655000	0.94253	GAT		0.358	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		9	36	0	0	0	0	9	36				
PDE11A	50940	broad.mit.edu	37	2	178682613	178682613	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:178682613A>G	ENST00000286063.6	-	8	1933	c.1616T>C	c.(1615-1617)tTt>tCt	p.F539S	PDE11A_ENST00000409504.1_Missense_Mutation_p.F181S|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.F289S|PDE11A_ENST00000389683.3_Missense_Mutation_p.F95S|PDE11A_ENST00000449286.2_Missense_Mutation_p.F181S	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	539	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TGCATCATCAAAAGGTTTCCC	0.378									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(1615-1617)TTT>TCT		phosphodiesterase 11A isoform 4							90.0	94.0	93.0					2																	178682613		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178682613A>G	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1616T>C	2.37:g.178682613A>G	ENSP00000286063:p.Phe539Ser					PDE11A_uc002ulp.2_Missense_Mutation_p.F95S|PDE11A_uc002ulr.2_Missense_Mutation_p.F289S|PDE11A_uc002uls.1_Missense_Mutation_p.F181S|PDE11A_uc002ult.1_Missense_Mutation_p.F289S|PDE11A_uc002ulu.1_Missense_Mutation_p.F181S	p.F539S	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		8	1934	-			539			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1616T>C	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.849500	0.91277	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.82	5.82	0.92795	GAF (2);	0.046490	0.85682	D	0.000000	D	0.89911	0.6852	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92550	0.6049	10	0.87932	D	0	.	15.1725	0.72884	1.0:0.0:0.0:0.0	.	289;539	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	S	539;289;181;95;181	ENSP00000286063:F539S;ENSP00000351232:F289S;ENSP00000386539:F181S;ENSP00000374333:F95S;ENSP00000390599:F181S	ENSP00000286063:F539S	F	-	2	0	PDE11A	178390859	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.817000	0.91985	2.225000	0.72522	0.460000	0.39030	TTT		0.378	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			5	34	0	0	0	0	5	34				
BOLL	66037	broad.mit.edu	37	2	198636708	198636708	+	Splice_Site	SNP	T	T	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:198636708T>G	ENST00000392296.4	-	6	662		c.e6-2		BOLL_ENST00000282278.8_Splice_Site|BOLL_ENST00000430004.1_Splice_Site|BOLL_ENST00000433157.1_Splice_Site|BOLL_ENST00000321801.7_Splice_Site|AC011997.1_ENST00000409845.1_Intron	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein						cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TACTAGAACCTAAAGCAAAGA	0.279																																						uc002uus.2		NA																	0				ovary(2)	2						c.e6-1		boule isoform 2							55.0	57.0	56.0					2																	198636708		2203	4299	6502	SO:0001630	splice_region_variant	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198636708T>G		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.353-2A>C	2.37:g.198636708T>G						uc002uup.2_Intron|BOLL_uc002uur.2_Splice_Site_p.R124_splice|BOLL_uc002uut.2_Splice_Site_p.R130_splice|BOLL_uc010zha.1_Splice_Site_p.G9_splice|BOLL_uc002uuu.1_Splice_Site_p.R124_splice	p.R118_splice	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN			6	663	-								B4DZA4|Q0JW32|Q53T62|Q969U3	Splice_Site	SNP	ENST00000392296.4	37	c.353_splice	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081214	0.55753	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	.	.	.	4.58	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0356	0.42127	0.0:0.0:0.1696:0.8304	.	.	.	.	.	-1	.	.	.	-	.	.	BOLL	198344953	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	4.810000	0.62598	0.698000	0.31739	0.460000	0.39030	.		0.279	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030	Intron	16	87	0	0	0	0	16	87				
TRIOBP	11078	broad.mit.edu	37	22	38119916	38119916	+	Silent	SNP	C	C	T	rs55853304		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:38119916C>T	ENST00000406386.3	+	7	1608	c.1353C>T	c.(1351-1353)ccC>ccT	p.P451P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	451					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGACAACCCCACAACATCCT	0.602																																						uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(1351-1353)CCC>CCT		TRIO and F-actin binding protein isoform 6							41.0	43.0	42.0					22																	38119916		1794	4029	5823	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119916C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1353C>T	22.37:g.38119916C>T						TRIOBP_uc003atu.2_Silent_p.P279P|TRIOBP_uc003atq.1_Silent_p.P451P|TRIOBP_uc003ats.1_Silent_p.P279P	p.P451P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1624	+	Melanoma(58;0.0574)		451					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1353C>T	CCDS43015.1																																																																																				0.602	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			8	47	0	0	0	0	8	47				
MKL1	57591	broad.mit.edu	37	22	40817050	40817050	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:40817050C>A	ENST00000355630.3	-	10	1272	c.682G>T	c.(682-684)Gag>Tag	p.E228*	MKL1_ENST00000396617.3_Nonsense_Mutation_p.E228*|MKL1_ENST00000407029.1_Nonsense_Mutation_p.E228*|MKL1_ENST00000402042.1_Nonsense_Mutation_p.E178*	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	228	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCTTCAGCTCCTTGGCCTTC	0.597			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1		NA		Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(682-684)GAG>TAG		megakaryoblastic leukemia 1 protein							139.0	118.0	125.0					22																	40817050		2203	4300	6503	SO:0001587	stop_gained	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40817050C>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.682G>T	22.37:g.40817050C>A	ENSP00000347847:p.Glu228*					MKL1_uc003ayw.1_Nonsense_Mutation_p.E228*|MKL1_uc010gye.1_Nonsense_Mutation_p.E228*|MKL1_uc010gyf.1_Nonsense_Mutation_p.E178*	p.E228*	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			7	889	-			228			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Nonsense_Mutation	SNP	ENST00000355630.3	37	c.682G>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	42	9.680450	0.99237	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	.	.	.	5.25	5.25	0.73442	.	0.052826	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-22.6219	18.8276	0.92124	0.0:1.0:0.0:0.0	.	.	.	.	X	228;228;178;228	.	ENSP00000347847:E228X	E	-	1	0	MKL1	39146996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.632000	0.83247	2.452000	0.82932	0.561000	0.74099	GAG		0.597	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		6	77	1	0	8.13e-05	8.92e-05	6	77				
SLC25A17	10478	broad.mit.edu	37	22	41173340	41173340	+	Silent	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:41173340C>T	ENST00000435456.2	-	6	622	c.489G>A	c.(487-489)tcG>tcA	p.S163S	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_Silent_p.S126S|SLC25A17_ENST00000402844.3_Silent_p.S81S|SLC25A17_ENST00000542412.1_Silent_p.S90S	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	163					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TCCATAAAGCCGAGATTCCTT	0.408																																						uc003azc.2		NA																	0					0						c.(487-489)TCG>TCA		solute carrier family 25 (mitochondrial carrier;							88.0	74.0	79.0					22																	41173340		2203	4300	6503	SO:0001819	synonymous_variant	10478				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	g.chr22:41173340C>T	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.489G>A	22.37:g.41173340C>T						SLC25A17_uc010gyg.2_RNA|SLC25A17_uc011aou.1_Silent_p.S126S|SLC25A17_uc003azd.2_RNA|SLC25A17_uc011aov.1_Silent_p.S90S	p.S163S	NM_006358	NP_006349	O43808	PM34_HUMAN			6	629	-			163			Solcar 2.|Helical; Name=4; (Potential).		A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Silent	SNP	ENST00000435456.2	37	c.489G>A	CCDS14005.1																																																																																				0.408	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358		13	26	0	0	0	0	13	26				
SBF1	6305	broad.mit.edu	37	22	50903692	50903692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:50903692G>T	ENST00000390679.3	-	11	1339	c.1155C>A	c.(1153-1155)tgC>tgA	p.C385*	SBF1_ENST00000348911.6_Nonsense_Mutation_p.C386*|SBF1_ENST00000380817.3_Nonsense_Mutation_p.C385*			O95248	MTMR5_HUMAN	SET binding factor 1	385	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGACGTGCAGGCACCAGCGAT	0.642																																						uc003blh.2		NA																	0					0						c.(1153-1155)TGC>TGA		SET binding factor 1							25.0	35.0	31.0					22																	50903692		2137	4254	6391	SO:0001587	stop_gained	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50903692G>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1155C>A	22.37:g.50903692G>T	ENSP00000375097:p.Cys385*					SBF1_uc011arx.1_Nonsense_Mutation_p.C49*|SBF1_uc003bli.2_Nonsense_Mutation_p.C386*	p.C385*	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	11	1350	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	385			dDENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Nonsense_Mutation	SNP	ENST00000390679.3	37	c.1155C>A		.	.	.	.	.	.	.	.	.	.	G	38	6.881022	0.97908	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	.	.	.	4.59	2.42	0.29668	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1582	0.20350	0.5093:0.0:0.4907:0.0	.	.	.	.	X	385;386;396;395;385	.	ENSP00000336522:C395X	C	-	3	2	SBF1	49250558	0.944000	0.32072	1.000000	0.80357	0.864000	0.49448	0.114000	0.15520	0.778000	0.33520	0.655000	0.94253	TGC		0.642	SBF1-201	KNOWN	basic	protein_coding	protein_coding				4	7	1	0	2.56e-06	2.84e-06	4	7				
MYRIP	25924	broad.mit.edu	37	3	40085595	40085595	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:40085595G>A	ENST00000302541.6	+	3	507	c.165G>A	c.(163-165)aaG>aaA	p.K55K	MYRIP_ENST00000396217.3_Missense_Mutation_p.S12N|MYRIP_ENST00000444716.1_Silent_p.K55K|MYRIP_ENST00000425621.1_Silent_p.K55K	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	55	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TCCTCTCGAAGCACCAGCAGT	0.542																																						uc003cka.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(163-165)AAG>AAA		myosin VIIA and Rab interacting protein							92.0	73.0	80.0					3																	40085595		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40085595G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.165G>A	3.37:g.40085595G>A						MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.K55K|MYRIP_uc010hhw.2_Missense_Mutation_p.S12N|MYRIP_uc010hhx.1_Silent_p.K55K	p.K55K	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	3	300	+			55			RabBD.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.165G>A	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189862	0.57909	.	.	ENSG00000170011	ENST00000396217	T	0.22743	1.94	5.65	3.85	0.44370	.	.	.	.	.	T	0.13884	0.0336	.	.	.	0.80722	D	1	B	0.19445	0.036	B	0.15870	0.014	T	0.07770	-1.0755	7	.	.	.	.	11.0812	0.48062	0.1565:0.0:0.8435:0.0	.	12	Q32M42	.	N	12	ENSP00000379519:S12N	.	S	+	2	0	MYRIP	40060599	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	2.555000	0.45854	1.394000	0.46624	0.563000	0.77884	AGC		0.542	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		4	32	0	0	0	0	4	32				
NKTR	4820	broad.mit.edu	37	3	42659092	42659092	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:42659092A>G	ENST00000232978.8	+	3	277	c.89A>G	c.(88-90)gAc>gGc	p.D30G	RP4-613B23.1_ENST00000445452.1_RNA|NKTR_ENST00000442970.1_Missense_Mutation_p.D30G|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	30	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTCTTCTCAGACATATGTCCA	0.328																																						uc003clo.2		NA																	0				ovary(2)|skin(1)	3						c.(88-90)GAC>GGC		natural killer-tumor recognition sequence							170.0	151.0	158.0					3																	42659092		2203	4298	6501	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42659092A>G		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.89A>G	3.37:g.42659092A>G	ENSP00000232978:p.Asp30Gly					NKTR_uc003cll.1_Missense_Mutation_p.D30G|NKTR_uc003clm.1_5'UTR|NKTR_uc003clp.2_5'UTR|NKTR_uc011azp.1_5'UTR|NKTR_uc003clq.1_5'Flank	p.D30G	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	3	236	+			30			PPIase cyclophilin-type.			Missense_Mutation	SNP	ENST00000232978.8	37	c.89A>G	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.939051	0.92526	.	.	ENSG00000114857	ENST00000232978;ENST00000442970;ENST00000445842	T;T;T	0.52057	0.68;0.68;0.68	5.45	5.45	0.79879	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.75354	0.3838	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;0.957	D;D	0.87578	0.998;0.947	T	0.81870	-0.0734	10	0.87932	D	0	-14.5614	15.7856	0.78300	1.0:0.0:0.0:0.0	.	30;30	P30414;A8K7K2	NKTR_HUMAN;.	G	30	ENSP00000232978:D30G;ENSP00000390259:D30G;ENSP00000408660:D30G	ENSP00000232978:D30G	D	+	2	0	NKTR	42634096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.171000	0.94802	2.190000	0.69967	0.533000	0.62120	GAC		0.328	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		10	42	0	0	0	0	10	42				
NBEAL2	23218	broad.mit.edu	37	3	47044464	47044464	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:47044464G>A	ENST00000450053.3	+	34	5656	c.5477G>A	c.(5476-5478)cGc>cAc	p.R1826H	NBEAL2_ENST00000383740.2_Missense_Mutation_p.R105H|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1642H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1826					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCATCCCCCGCTGGAAACTG	0.612																																						uc003cqp.2		NA																	0				ovary(1)	1						c.(5476-5478)CGC>CAC		neurobeachin-like 2							53.0	57.0	56.0					3																	47044464		2029	4169	6198	SO:0001583	missense	23218						binding	g.chr3:47044464G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5477G>A	3.37:g.47044464G>A	ENSP00000415034:p.Arg1826His					NBEAL2_uc010hjm.1_Missense_Mutation_p.R1203H|NBEAL2_uc010hjn.1_Missense_Mutation_p.R222H|NBEAL2_uc010hjo.1_5'Flank	p.R1826H	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	34	5656	+		Acute lymphoblastic leukemia(5;0.0534)	1826					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.5477G>A	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.010|0.010	-1.792074|-1.792074	0.00623|0.00623	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000383740;ENST00000450053	.|T;T;T	.|0.54071	.|0.59;1.17;0.59	5.01|5.01	-2.09|-2.09	0.07232|0.07232	.|.	.|0.530450	.|0.19299	.|N	.|0.117681	T|T	0.18341|0.18341	0.0440|0.0440	N|N	0.01789|0.01789	-0.72|-0.72	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.31998|0.31998	-0.9923|-0.9923	5|10	.|0.02654	.|T	.|1	.|.	10.8697|10.8697	0.46877|0.46877	0.6291:0.0:0.3709:0.0|0.6291:0.0:0.3709:0.0	.|.	.|1642;1826	.|Q6ZNJ1-2;Q6ZNJ1	.|.;NBEL2_HUMAN	T|H	1114|1642;105;1826	.|ENSP00000292309:R1642H;ENSP00000373246:R105H;ENSP00000415034:R1826H	.|ENSP00000292309:R1642H	A|R	+|+	1|2	0|0	NBEAL2|NBEAL2	47019468|47019468	0.414000|0.414000	0.25408|0.25408	0.185000|0.185000	0.23176|0.23176	0.159000|0.159000	0.22180|0.22180	-0.074000|-0.074000	0.11450|0.11450	-0.654000|-0.654000	0.05394|0.05394	-0.982000|-0.982000	0.02568|0.02568	GCT|CGC		0.612	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		16	19	0	0	0	0	16	19				
PDZRN3	23024	broad.mit.edu	37	3	73432746	73432746	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:73432746G>A	ENST00000263666.4	-	10	3085	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R648W|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R648W|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R713W|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R708W	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	991					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AACTCGCGCCGCCGCCGCTGC	0.582																																						uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2971-2973)CGG>TGG		PDZ domain containing ring finger 3							118.0	117.0	117.0					3																	73432746		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432746G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2971C>T	3.37:g.73432746G>A	ENSP00000263666:p.Arg991Trp					PDZRN3_uc011bgh.1_Missense_Mutation_p.R648W|PDZRN3_uc010hoe.1_Missense_Mutation_p.R689W|PDZRN3_uc011bgf.1_Missense_Mutation_p.R708W|PDZRN3_uc011bgg.1_Missense_Mutation_p.R711W	p.R991W	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	3067	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	991			Potential.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2971C>T	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.889452|1.889452	0.33348|0.33348	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000416926|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.77229	.|-1.08;-1.08;-1.08;-1.08;-1.08	5.66|5.66	-5.02|-5.02	0.02982|0.02982	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85699|0.85699	0.5757|0.5757	M|M	0.78456|0.78456	2.415|2.415	0.46028|0.46028	D|D	0.998827|0.998827	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.998;0.997	D|D	0.85423|0.85423	0.1144|0.1144	6|10	0.87932|0.87932	D|D	0|0	.|.	17.3769|17.3769	0.87395|0.87395	0.0:0.0601:0.7426:0.1974|0.0:0.0601:0.7426:0.1974	.|.	.|713;708;708;991	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	V|W	710|991;713;648;648;708	.|ENSP00000263666:R991W;ENSP00000442026:R713W;ENSP00000418168:R648W;ENSP00000418484:R648W;ENSP00000418624:R708W	ENSP00000392657:A710V|ENSP00000263666:R991W	A|R	-|-	2|1	0|2	PDZRN3|PDZRN3	73515436|73515436	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.426000|0.426000	0.31534|0.31534	-1.017000|-1.017000	0.03630|0.03630	-1.268000|-1.268000	0.02439|0.02439	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.582	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		14	72	0	0	0	0	14	72				
OR5K4	403278	broad.mit.edu	37	3	98073476	98073476	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:98073476G>C	ENST00000354924.2	+	1	779	c.779G>C	c.(778-780)gGa>gCa	p.G260A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	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)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						ATGTATATTGGACCATCTGAA	0.348																																						uc011bgv.1		NA																	0				central_nervous_system(1)	1						c.(778-780)GGA>GCA		olfactory receptor, family 5, subfamily K,							121.0	123.0	122.0					3																	98073476		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073476G>C		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.779G>C	3.37:g.98073476G>C	ENSP00000347003:p.Gly260Ala						p.G260A	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	779	+			260			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000354924.2	37	c.779G>C	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	G	6.426	0.446797	0.12223	.	.	ENSG00000196098	ENST00000354924	T	0.38401	1.14	4.83	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29218	U	0.012796	T	0.18841	0.0452	N	0.05467	-0.045	0.20074	N	0.999936	B	0.19331	0.035	B	0.22601	0.04	T	0.19549	-1.0302	10	0.87932	D	0	1.5918	8.0277	0.30446	0.0858:0.0:0.7561:0.1581	.	260	A6NMS3	OR5K4_HUMAN	A	260	ENSP00000347003:G260A	ENSP00000347003:G260A	G	+	2	0	OR5K4	99556166	0.000000	0.05858	0.848000	0.33437	0.214000	0.24535	-0.350000	0.07721	0.718000	0.32166	0.536000	0.68110	GGA		0.348	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			4	178	0	0	0	0	4	178				
SIDT1	54847	broad.mit.edu	37	3	113331029	113331029	+	Missense_Mutation	SNP	C	C	T	rs200179202		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:113331029C>T	ENST00000264852.4	+	19	2680	c.1954C>T	c.(1954-1956)Cgt>Tgt	p.R652C	SIDT1_ENST00000393830.3_Missense_Mutation_p.R652C|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	652					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTATATGGGTCGTTTCAAGAT	0.413																																						uc003eak.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1954-1956)CGT>TGT		SID1 transmembrane family, member 1 precursor							78.0	76.0	77.0					3																	113331029		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113331029C>T	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1954C>T	3.37:g.113331029C>T	ENSP00000264852:p.Arg652Cys					SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.R652C|SIDT1_uc011big.1_Missense_Mutation_p.R405C|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_Missense_Mutation_p.R105C	p.R652C	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			19	2605	+			652			Cytoplasmic (Potential).		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.1954C>T	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178386	0.78564	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.23348	1.91;1.91	5.75	4.82	0.62117	.	0.178451	0.40728	N	0.001027	T	0.48857	0.1523	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.67900	0.954;0.657	T	0.41645	-0.9497	10	0.45353	T	0.12	-8.3178	16.2653	0.82574	0.0:0.8676:0.1324:0.0	.	652;652	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	C	652	ENSP00000264852:R652C;ENSP00000377416:R652C	ENSP00000264852:R652C	R	+	1	0	SIDT1	114813719	0.994000	0.37717	0.996000	0.52242	0.881000	0.50899	3.133000	0.50531	2.725000	0.93324	0.655000	0.94253	CGT		0.413	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		5	65	0	0	0	0	5	65				
KIAA1407	57577	broad.mit.edu	37	3	113723577	113723577	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:113723577G>C	ENST00000295878.3	-	11	2031	c.1885C>G	c.(1885-1887)Cct>Gct	p.P629A	KIAA1407_ENST00000545063.1_Missense_Mutation_p.P460A	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	629										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCAGTCCCAGGGGAAGCAACA	0.443																																						uc003eax.2		NA																	0				ovary(2)	2						c.(1885-1887)CCT>GCT		hypothetical protein LOC57577							129.0	126.0	127.0					3																	113723577		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113723577G>C	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1885C>G	3.37:g.113723577G>C	ENSP00000295878:p.Pro629Ala					KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.P607A	p.P629A	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			11	2032	-			629					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1885C>G	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759235	0.31137	.	.	ENSG00000163617	ENST00000295878;ENST00000545063	T;T	0.46063	1.54;0.88	5.2	1.16	0.20824	.	0.825054	0.11658	N	0.542105	T	0.32255	0.0823	M	0.64997	1.995	0.20307	N	0.999917	P;B	0.36909	0.573;0.206	B;B	0.35182	0.197;0.059	T	0.20405	-1.0276	10	0.08179	T	0.78	.	6.3258	0.21242	0.423:0.0:0.577:0.0	.	505;629	B4DIZ9;Q8NCU4	.;K1407_HUMAN	A	629;460	ENSP00000295878:P629A;ENSP00000446381:P460A	ENSP00000295878:P629A	P	-	1	0	KIAA1407	115206267	0.000000	0.05858	0.652000	0.29579	0.842000	0.47809	0.253000	0.18296	0.355000	0.24131	-0.145000	0.13849	CCT		0.443	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		27	188	0	0	0	0	27	188				
HEG1	57493	broad.mit.edu	37	3	124692701	124692701	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:124692701G>C	ENST00000311127.4	-	16	3937	c.3870C>G	c.(3868-3870)ttC>ttG	p.F1290L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1290					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGGACATTTGGAAATCTCCAC	0.383																																						uc003ehs.3		NA																	0				ovary(2)	2						c.(3868-3870)TTC>TTG		HEG homolog 1 precursor							130.0	128.0	128.0					3																	124692701		1827	4087	5914	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124692701G>C	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3870C>G	3.37:g.124692701G>C	ENSP00000311502:p.Phe1290Leu					HEG1_uc003ehr.3_Missense_Mutation_p.F144L|HEG1_uc011bke.1_Missense_Mutation_p.F1390L	p.F1290L	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			16	3938	-			1290			Cytoplasmic (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.3870C>G	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579138	0.28180	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.88201	-2.35;1.03	4.97	4.1	0.47936	.	0.000000	0.40818	U	0.001012	T	0.78362	0.4271	N	0.04508	-0.205	0.48135	D	0.999596	B	0.22480	0.07	B	0.30572	0.117	T	0.73711	-0.3897	10	0.37606	T	0.19	.	13.4044	0.60903	0.0753:0.0:0.9247:0.0	.	1290	Q9ULI3	HEG1_HUMAN	L	1290;174	ENSP00000311502:F1290L;ENSP00000417648:F174L	ENSP00000311502:F1290L	F	-	3	2	HEG1	126175391	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.906000	0.63293	1.326000	0.45319	-0.136000	0.14681	TTC		0.383	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		4	98	0	0	0	0	4	98				
RHO	6010	broad.mit.edu	37	3	129251571	129251571	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:129251571G>A	ENST00000296271.3	+	4	986	c.892G>A	c.(892-894)Gcc>Acc	p.A298T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	298					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGCCAAGAGCGCCGCCATCTA	0.602																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	uc003emt.2		NA																	0					0						c.(892-894)GCC>ACC		rhodopsin	Halothane(DB01159)						132.0	121.0	125.0					3																	129251571		2203	4300	6503	SO:0001583	missense	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129251571G>A	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.892G>A	3.37:g.129251571G>A	ENSP00000296271:p.Ala298Thr						p.A298T	NM_000539	NP_000530	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	4	987	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	298			Helical; Name=7; (Potential).		Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	c.892G>A	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388603	0.42308	.	.	ENSG00000163914	ENST00000296271	T	0.36157	1.27	5.51	0.28	0.15682	GPCR, rhodopsin-like superfamily (1);	0.214788	0.49916	D	0.000123	T	0.40448	0.1117	M	0.80422	2.495	0.19300	N	0.999974	B	0.30763	0.294	B	0.28709	0.093	T	0.45920	-0.9228	10	0.87932	D	0	.	15.0785	0.72096	0.0:0.0:0.5221:0.4779	.	298	P08100	OPSD_HUMAN	T	298	ENSP00000296271:A298T	ENSP00000296271:A298T	A	+	1	0	RHO	130734261	0.012000	0.17670	0.001000	0.08648	0.740000	0.42216	0.035000	0.13797	-0.176000	0.10707	0.561000	0.74099	GCC		0.602	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		7	111	0	0	0	0	7	111				
KCNMB2	10242	broad.mit.edu	37	3	178543544	178543544	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:178543544G>A	ENST00000432997.1	+	3	577	c.225G>A	c.(223-225)caG>caA	p.Q75Q	RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.Q75Q|KCNMB2_ENST00000358316.3_Silent_p.Q75Q|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.Q75Q	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	86			L -> V (in dbSNP:rs2276802). {ECO:0000269|PubMed:14612589}.		action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	CATACATGCAGAGGTAATACC	0.527																																						uc003fjd.2		NA																	0				ovary(1)	1						c.(223-225)CAG>CAA		calcium-activated potassium channel beta 2							167.0	156.0	160.0					3																	178543544		2203	4300	6503	SO:0001819	synonymous_variant	10242				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr3:178543544G>A	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.225G>A	3.37:g.178543544G>A						uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Silent_p.Q75Q|KCNMB2_uc003fjf.2_Silent_p.Q75Q|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron	p.Q75Q	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		3	568	+	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		75			Extracellular (Potential).		B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Silent	SNP	ENST00000432997.1	37	c.225G>A	CCDS3223.1																																																																																				0.527	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		47	255	0	0	0	0	47	255				
TFRC	7037	broad.mit.edu	37	3	195792459	195792459	+	Silent	SNP	T	T	C	rs532098606	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:195792459T>C	ENST00000360110.4	-	10	1222	c.1053A>G	c.(1051-1053)ggA>ggG	p.G351G	TFRC_ENST00000392396.3_Silent_p.G351G|TFRC_ENST00000535031.1_Silent_p.G69G|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000465288.1_5'Flank|TFRC_ENST00000420415.1_Silent_p.G270G	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	351					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	AGGGACAGTCTCCTTCCATAT	0.438			T	BCL6	NHL								T|||	3	0.000599042	0.0	0.0	5008	,	,		14556	0.0		0.0	False		,,,				2504	0.0031					uc003fvz.3		NA		Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				ovary(3)	3						c.(1051-1053)GGA>GGG		transferrin receptor							123.0	123.0	123.0					3																	195792459		2203	4300	6503	SO:0001819	synonymous_variant	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195792459T>C	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1053A>G	3.37:g.195792459T>C						TFRC_uc003fwa.3_Silent_p.G351G|TFRC_uc010hzy.2_Silent_p.G270G|TFRC_uc011btr.1_Silent_p.G69G	p.G351G	NM_003234	NP_003225	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	10	1336	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		351			Extracellular (Potential).		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	ENST00000360110.4	37	c.1053A>G	CCDS3312.1																																																																																				0.438	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			19	180	0	0	0	0	19	180				
FSTL5	56884	broad.mit.edu	37	4	162307361	162307361	+	Silent	SNP	C	C	T	rs35820116	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr4:162307361C>T	ENST00000306100.5	-	16	2518	c.2082G>A	c.(2080-2082)acG>acA	p.T694T	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Silent_p.T693T|FSTL5_ENST00000427802.2_Silent_p.T684T|FSTL5_ENST00000379164.4_Silent_p.T693T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	694						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGGAGTGCCCGTCACATCAC	0.478													C|||	5	0.000998403	0.003	0.0	5008	,	,		18549	0.0		0.001	False		,,,				2504	0.0					uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(2080-2082)ACG>ACA		follistatin-like 5 isoform a		C	,,	8,4398	14.3+/-33.2	0,8,2195	132.0	120.0	124.0		2079,2052,2082	-11.1	0.1	4	dbSNP_126	124	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous,coding-synonymous,coding-synonymous	FSTL5	NM_001128427.1,NM_001128428.1,NM_020116.3	,,	0,9,6494	TT,TC,CC		0.0116,0.1816,0.0692	,,	693/847,684/838,694/848	162307361	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162307361C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2082G>A	4.37:g.162307361C>T						FSTL5_uc003iqi.2_Silent_p.T693T|FSTL5_uc010iqv.2_Silent_p.T684T|uc010iqu.1_RNA	p.T694T	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2518	-	all_hematologic(180;0.24)		694					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.2082G>A	CCDS3802.1																																																																																				0.478	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		4	49	0	0	0	0	4	49				
EGFLAM	133584	broad.mit.edu	37	5	38370498	38370498	+	Missense_Mutation	SNP	G	G	A	rs369204325		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:38370498G>A	ENST00000354891.3	+	6	992	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	EGFLAM_ENST00000322350.5_Missense_Mutation_p.V216M	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	216	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCAGTTTGCCGTGAGGGCAAT	0.567																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(646-648)GTG>ATG		EGF-like, fibronectin type III and laminin G		G	MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	69.0	64.0	66.0		646,646	5.8	0.9	5		66	0,8600		0,0,4300	no	missense,missense	EGFLAM	NM_001205301.1,NM_152403.3	21,21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	216/1018,216/1010	38370498	2,13004	2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38370498G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.646G>A	5.37:g.38370498G>A	ENSP00000346964:p.Val216Met					EGFLAM_uc003jlb.1_Missense_Mutation_p.V216M	p.V216M	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			6	970	+	all_lung(31;0.000385)		216			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.646G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747359	0.89663	4.54E-4	0.0	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.74106	-0.81;-0.81	5.82	5.82	0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058756	0.64402	D	0.000002	D	0.87006	0.6070	M	0.87381	2.88	0.80722	D	1	D;D	0.65815	0.995;0.994	P;P	0.58780	0.845;0.759	D	0.88581	0.3136	10	0.87932	D	0	-0.1892	19.688	0.95987	0.0:0.0:1.0:0.0	.	216;216	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	M	216	ENSP00000346964:V216M;ENSP00000313084:V216M	ENSP00000313084:V216M	V	+	1	0	EGFLAM	38406255	1.000000	0.71417	0.950000	0.38849	0.988000	0.76386	3.223000	0.51231	2.756000	0.94617	0.561000	0.74099	GTG		0.567	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		6	31	0	0	0	0	6	31				
ITGA1	3672	broad.mit.edu	37	5	52235492	52235492	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:52235492A>G	ENST00000282588.6	+	25	3609	c.3151A>G	c.(3151-3153)Act>Gct	p.T1051A	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1051					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GACTACATCAACTGACCATCT	0.323																																						uc003jou.2		NA																	0				ovary(2)|lung(1)	3						c.(3151-3153)ACT>GCT		integrin, alpha 1 precursor							84.0	83.0	83.0					5																	52235492		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52235492A>G	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3151A>G	5.37:g.52235492A>G	ENSP00000282588:p.Thr1051Ala					ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.T582A	p.T1051A	NM_181501	NP_852478	P56199	ITA1_HUMAN			25	3203	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	1051			Extracellular (Potential).		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.3151A>G	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	6.028	0.373484	0.11409	.	.	ENSG00000213949	ENST00000282588	T	0.46819	0.86	5.86	5.86	0.93980	.	0.595971	0.16625	N	0.206287	T	0.32255	0.0823	N	0.22421	0.69	0.29451	N	0.858446	B	0.12630	0.006	B	0.10450	0.005	T	0.18272	-1.0342	10	0.09338	T	0.73	.	12.657	0.56793	1.0:0.0:0.0:0.0	.	1051	P56199	ITA1_HUMAN	A	1051	ENSP00000282588:T1051A	ENSP00000282588:T1051A	T	+	1	0	ITGA1	52271249	0.998000	0.40836	0.750000	0.31169	0.098000	0.18820	4.916000	0.63362	2.241000	0.73720	0.528000	0.53228	ACT		0.323	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		31	37	0	0	0	0	31	37				
PCDHB15	56121	broad.mit.edu	37	5	140626678	140626678	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:140626678G>T	ENST00000231173.3	+	1	1532	c.1532G>T	c.(1531-1533)gGc>gTc	p.G511V		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGACAACGGCCACCTGTTC	0.682																																						uc003lje.2		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(1531-1533)GGC>GTC		protocadherin beta 15 precursor							98.0	107.0	104.0					5																	140626678		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626678G>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1532G>T	5.37:g.140626678G>T	ENSP00000231173:p.Gly511Val						p.G511V	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1532	+			511			Extracellular (Potential).|Cadherin 5.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.1532G>T	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616458	0.46736	.	.	ENSG00000113248	ENST00000231173	D	0.91464	-2.85	4.76	4.76	0.60689	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.97701	0.9246	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99821	1.1047	9	0.87932	D	0	.	17.8023	0.88591	0.0:0.0:1.0:0.0	.	511	Q9Y5E8	PCDBF_HUMAN	V	511	ENSP00000231173:G511V	ENSP00000231173:G511V	G	+	2	0	PCDHB15	140606862	1.000000	0.71417	0.288000	0.24862	0.004000	0.04260	7.753000	0.85153	2.378000	0.81104	0.586000	0.80456	GGC		0.682	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		29	89	1	0	1.75e-13	2.02e-13	29	89				
PCDHGA3	56112	broad.mit.edu	37	5	140723799	140723799	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:140723799G>A	ENST00000253812.6	+	1	199	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCGCATCGTCTCCAGAGG	0.617											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljm.1		NA																	0				breast(1)	1						c.(199-201)GTC>ATC		protocadherin gamma subfamily A, 3 isoform 1							75.0	88.0	83.0					5																	140723799		2177	4291	6468	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140723799G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.199G>A	5.37:g.140723799G>A	ENSP00000253812:p.Val67Ile		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.V67I	p.V67I	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	199	+			67			Cadherin 1.|Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.199G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	9.145	1.014702	0.19355	.	.	ENSG00000254245	ENST00000253812	T	0.30714	1.52	5.65	1.84	0.25277	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.279637	0.18363	N	0.143518	T	0.23014	0.0556	L	0.54323	1.7	0.20074	N	0.999931	B;B	0.31680	0.335;0.019	B;B	0.27500	0.075;0.08	T	0.12091	-1.0561	10	0.30078	T	0.28	.	6.289	0.21049	0.29:0.1242:0.5858:0.0	.	67;67	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	I	67	ENSP00000253812:V67I	ENSP00000253812:V67I	V	+	1	0	PCDHGA3	140703983	0.000000	0.05858	1.000000	0.80357	0.398000	0.30690	-0.126000	0.10563	0.407000	0.25591	0.655000	0.94253	GTC		0.617	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		5	163	0	0	0	0	5	163				
UNC5A	90249	broad.mit.edu	37	5	176295646	176295646	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:176295646A>G	ENST00000329542.4	+	4	795	c.521A>G	c.(520-522)gAg>gGg	p.E174G	UNC5A_ENST00000261961.3_Missense_Mutation_p.E134G	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	174	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTCCACCGGAGGGCATCCCT	0.662																																						uc003mey.2		NA																	0				skin(1)	1						c.(520-522)GAG>GGG		netrin receptor Unc5h1 precursor							23.0	22.0	22.0					5																	176295646		2194	4295	6489	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176295646A>G	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.521A>G	5.37:g.176295646A>G	ENSP00000332737:p.Glu174Gly					UNC5A_uc003mex.1_Missense_Mutation_p.E174G|UNC5A_uc010jkg.1_Missense_Mutation_p.E134G	p.E174G	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	713	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	174			Ig-like C2-type.|Extracellular (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.521A>G	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717334	0.68844	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.69306	-0.39;-0.39	4.68	4.68	0.58851	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.984;1.0;1.0	D;D;D	0.91635	0.917;0.999;0.997	D	0.83630	0.0144	10	0.87932	D	0	-29.9986	14.1241	0.65208	1.0:0.0:0.0:0.0	.	134;174;174	Q6ZN44-3;Q6ZN44;Q6ZN44-2	.;UNC5A_HUMAN;.	G	174;134	ENSP00000332737:E174G;ENSP00000261961:E134G	ENSP00000261961:E134G	E	+	2	0	UNC5A	176228252	1.000000	0.71417	0.954000	0.39281	0.373000	0.29922	9.339000	0.96797	1.754000	0.51921	0.459000	0.35465	GAG		0.662	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		3	11	0	0	0	0	3	11				
MBOAT1	154141	broad.mit.edu	37	6	20126818	20126818	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr6:20126818A>G	ENST00000324607.7	-	7	808	c.644T>C	c.(643-645)aTa>aCa	p.I215T	MBOAT1_ENST00000541730.1_Missense_Mutation_p.I66T|MBOAT1_ENST00000536798.1_Missense_Mutation_p.I215T	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	215					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CTTCATGTGTATATGCTTCCC	0.408											OREG0017224	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ncx.1		NA																	0					0						c.(643-645)ATA>ACA		membrane bound O-acyltransferase domain							146.0	139.0	141.0					6																	20126818		2203	4300	6503	SO:0001583	missense	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20126818A>G	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.644T>C	6.37:g.20126818A>G	ENSP00000324944:p.Ile215Thr		OREG0017224	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	738	MBOAT1_uc011dji.1_Missense_Mutation_p.I66T	p.I215T	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		7	849	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		215					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	c.644T>C	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	A	9.255	1.041838	0.19748	.	.	ENSG00000172197	ENST00000541730;ENST00000324607;ENST00000536798	T;T;T	0.50813	0.73;0.73;0.73	5.78	-5.9	0.02275	.	0.870342	0.10087	N	0.717681	T	0.19765	0.0475	L	0.54323	1.7	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15484	0.003;0.013	T	0.38286	-0.9668	10	0.19590	T	0.45	-13.785	16.0942	0.81110	0.9004:0.0:0.0996:0.0	.	66;215	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	T	66;215;215	ENSP00000441568:I66T;ENSP00000324944:I215T;ENSP00000439814:I215T	ENSP00000324944:I215T	I	-	2	0	MBOAT1	20234797	0.002000	0.14202	0.006000	0.13384	0.552000	0.35366	0.928000	0.28831	-0.895000	0.03920	-0.911000	0.02809	ATA		0.408	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			4	135	0	0	0	0	4	135				
VWA7	80737	broad.mit.edu	37	6	31734251	31734251	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr6:31734251C>T	ENST00000375688.4	-	14	2373	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I	SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Missense_Mutation_p.V725I			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	725						extracellular region (GO:0005576)											TCCAGAAGGACAGGGACTACA	0.652																																						uc011dog.1		NA																	0				ovary(3)	3						c.(2173-2175)GTC>ATC		G7c protein precursor							17.0	14.0	15.0					6																	31734251		1504	2706	4210	SO:0001583	missense	80737					extracellular region		g.chr6:31734251C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2173G>A	6.37:g.31734251C>T	ENSP00000364840:p.Val725Ile					C6orf27_uc003nxd.2_Missense_Mutation_p.V400I	p.V725I	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			14	2411	-			725					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.2173G>A	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235461	0.79800	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	T;T	0.15372	2.65;2.43	5.11	5.11	0.69529	.	0.169088	0.38272	N	0.001742	T	0.12944	0.0314	L	0.32530	0.975	0.80722	D	1	P	0.45715	0.865	P	0.49361	0.608	T	0.00934	-1.1509	10	0.54805	T	0.06	-30.5255	13.9127	0.63878	0.0:1.0:0.0:0.0	.	725	Q9Y334	G7C_HUMAN	I	725	ENSP00000364840:V725I;ENSP00000364838:V725I	ENSP00000364838:V725I	V	-	1	0	C6orf27	31842230	0.958000	0.32768	0.878000	0.34440	0.936000	0.57629	2.197000	0.42696	2.654000	0.90174	0.563000	0.77884	GTC		0.652	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		10	4	0	0	0	0	10	4				
GPR110	266977	broad.mit.edu	37	6	46977694	46977694	+	Missense_Mutation	SNP	C	C	T	rs377139714		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr6:46977694C>T	ENST00000371253.2	-	11	1692	c.1477G>A	c.(1477-1479)Gtt>Att	p.V493I	GPR110_ENST00000283297.5_Missense_Mutation_p.V296I|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	493					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTTTTGGAAACGGGTAGAATG	0.413													T|||	1	0.000199681	0.0008	0.0	5008	,	,		22056	0.0		0.0	False		,,,				2504	0.0					uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1477-1479)GTT>ATT		G-protein coupled receptor 110 isoform 1		T	ILE/VAL	1,4405	826.1+/-416.6	0,1,2202	77.0	77.0	77.0		1477	-1.9	0.0	6		77	0,8600		0,0,4300	no	missense	GPR110	NM_153840.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	493/911	46977694	1,13005	2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977694C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1477G>A	6.37:g.46977694C>T	ENSP00000360299:p.Val493Ile					GPR110_uc011dwl.1_Missense_Mutation_p.V181I	p.V493I	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	1676	-			493			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1477G>A	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	T	9.936	1.216183	0.22373	2.27E-4	0.0	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.32023	1.47;1.47	5.2	-1.9	0.07665	.	1.061990	0.07327	N	0.878654	T	0.03390	0.0098	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42085	-0.9472	10	0.25751	T	0.34	0.2498	9.8411	0.40999	0.0:0.4312:0.0988:0.47	.	493	Q5T601	GP110_HUMAN	I	493;493;296	ENSP00000360299:V493I;ENSP00000283297:V296I	ENSP00000283297:V296I	V	-	1	0	GPR110	47085653	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.418000	0.01034	-0.538000	0.06281	-0.381000	0.06696	GTT		0.413	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		7	67	0	0	0	0	7	67				
FIG4	9896	broad.mit.edu	37	6	110106193	110106193	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr6:110106193C>T	ENST00000230124.3	+	17	2034	c.1910C>T	c.(1909-1911)cCa>cTa	p.P637L	FIG4_ENST00000441478.2_Missense_Mutation_p.P360L	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	637					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGGTGGACACCAGAGGTGATA	0.269																																						uc003ptt.2		NA																	0				ovary(1)	1						c.(1909-1911)CCA>CTA		Sac domain-containing inositol phosphatase 3							181.0	163.0	169.0					6																	110106193		2203	4297	6500	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110106193C>T	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1910C>T	6.37:g.110106193C>T	ENSP00000230124:p.Pro637Leu					FIG4_uc011eau.1_Missense_Mutation_p.P360L	p.P637L	NM_014845	NP_055660	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	17	2125	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	637					Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.1910C>T	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265194	0.40095	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.52295	1.93;0.67	5.61	4.75	0.60458	.	0.429313	0.28042	N	0.016827	T	0.16599	0.0399	N	0.12182	0.205	0.41674	D	0.989259	B;B	0.22003	0.063;0.0	B;B	0.19391	0.025;0.001	T	0.04333	-1.0959	10	0.33940	T	0.23	-16.1823	14.6205	0.68582	0.0:0.93:0.0:0.07	.	360;637	F5H8L9;Q92562	.;FIG4_HUMAN	L	360;637	ENSP00000399443:P360L;ENSP00000230124:P637L	ENSP00000230124:P637L	P	+	2	0	FIG4	110212886	0.717000	0.27966	1.000000	0.80357	0.931000	0.56810	1.138000	0.31491	1.514000	0.48869	0.650000	0.86243	CCA		0.269	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		10	90	0	0	0	0	10	90				
ZNF479	90827	broad.mit.edu	37	7	57187579	57187579	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr7:57187579G>A	ENST00000331162.4	-	5	1813	c.1543C>T	c.(1543-1545)Cac>Tac	p.H515Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	515					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTGTGAATTATCTTA	0.348																																						uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(1543-1545)CAC>TAC		zinc finger protein 479							31.0	32.0	32.0					7																	57187579		2003	4203	6206	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187579G>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1543C>T	7.37:g.57187579G>A	ENSP00000333776:p.His515Tyr						p.H515Y	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1814	-			515			C2H2-type 12.			Missense_Mutation	SNP	ENST00000331162.4	37	c.1543C>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	-	14.56	2.570542	0.45798	.	.	ENSG00000185177	ENST00000331162	T	0.15487	2.42	0.888	0.888	0.19206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51126	0.1656	H	0.97732	4.065	0.29826	N	0.830427	D	0.60575	0.988	D	0.72982	0.979	T	0.50448	-0.8827	9	0.72032	D	0.01	.	7.306	0.26447	0.0:0.0:1.0:0.0	.	515	Q96JC4	ZN479_HUMAN	Y	515	ENSP00000333776:H515Y	ENSP00000333776:H515Y	H	-	1	0	ZNF479	57191521	1.000000	0.71417	0.222000	0.23844	0.204000	0.24138	6.385000	0.73182	0.390000	0.25115	0.391000	0.25812	CAC		0.348	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		5	20	0	0	0	0	5	20				
ZNF394	84124	broad.mit.edu	37	7	99097569	99097569	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr7:99097569C>T	ENST00000337673.6	-	1	351	c.148G>A	c.(148-150)Gag>Aag	p.E50K	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.E50K	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	50					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAGTTGGGCTCCCAACTTCCG	0.642																																					Ovarian(24;589 697 9939 12704 40742)	uc003uqs.2		NA																	0					0						c.(148-150)GAG>AAG		zinc finger protein 394							51.0	52.0	52.0					7																	99097569		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097569C>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.148G>A	7.37:g.99097569C>T	ENSP00000337363:p.Glu50Lys					ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Missense_Mutation_p.E50K	p.E50K	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN			1	309	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		50					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.148G>A	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577131	0.45902	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	T;T	0.05513	3.43;3.84	4.04	3.16	0.36331	.	0.000000	0.48286	D	0.000184	T	0.07234	0.0183	N	0.19112	0.55	0.25884	N	0.983559	D;P	0.56968	0.978;0.956	P;P	0.53224	0.721;0.578	T	0.18618	-1.0331	10	0.41790	T	0.15	.	7.8602	0.29506	0.0:0.8889:0.0:0.1111	.	50;50	Q05DA6;Q53GI3	.;ZN394_HUMAN	K	50	ENSP00000337363:E50K;ENSP00000409565:E50K	ENSP00000337363:E50K	E	-	1	0	ZNF394	98935505	0.016000	0.18221	0.159000	0.22649	0.007000	0.05969	0.056000	0.14256	1.298000	0.44778	0.561000	0.74099	GAG		0.642	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		8	57	0	0	0	0	8	57				
TAS2R16	50833	broad.mit.edu	37	7	122634844	122634844	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr7:122634844G>A	ENST00000249284.2	-	1	910	c.845C>T	c.(844-846)aCg>aTg	p.T282M		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	282					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTTTTCAACGTAGGGCTGCT	0.423																																						uc003vkl.1		NA																	0				ovary(1)|skin(1)	2						c.(844-846)ACG>ATG		taste receptor T2R16							112.0	115.0	114.0					7																	122634844		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122634844G>A	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.845C>T	7.37:g.122634844G>A	ENSP00000249284:p.Thr282Met						p.T282M	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	911	-			282			Cytoplasmic (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.845C>T	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324700	0.41197	.	.	ENSG00000128519	ENST00000249284	T	0.00801	5.68	4.34	-0.107	0.13592	.	0.389366	0.21286	N	0.077070	T	0.02494	0.0076	L	0.44542	1.39	0.09310	N	1	D	0.76494	0.999	D	0.66602	0.945	T	0.33137	-0.9880	10	0.87932	D	0	.	11.0748	0.48025	0.0:0.0:0.3469:0.6531	.	282	Q9NYV7	T2R16_HUMAN	M	282	ENSP00000249284:T282M	ENSP00000249284:T282M	T	-	2	0	TAS2R16	122422080	0.007000	0.16637	0.000000	0.03702	0.010000	0.07245	0.512000	0.22755	0.152000	0.19188	0.591000	0.81541	ACG		0.423	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		27	109	0	0	0	0	27	109				
CSMD1	64478	broad.mit.edu	37	8	2976061	2976061	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr8:2976061T>C	ENST00000520002.1	-	43	6848	c.6293A>G	c.(6292-6294)tAc>tGc	p.Y2098C	CSMD1_ENST00000602557.1_Missense_Mutation_p.Y2098C|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y2097C|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y2098C|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y2098C|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y2097C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2098	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGATCATGTACCCATTCTG	0.418																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(6292-6294)TAC>TGC		CUB and Sushi multiple domains 1 precursor							136.0	132.0	134.0					8																	2976061		1992	4158	6150	SO:0001583	missense	64478					integral to membrane		g.chr8:2976061T>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6293A>G	8.37:g.2976061T>C	ENSP00000430733:p.Tyr2098Cys					CSMD1_uc011kwj.1_Missense_Mutation_p.Y1490C|CSMD1_uc010lrg.2_Missense_Mutation_p.Y166C	p.Y2098C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	42	6683	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2098			Extracellular (Potential).|Sushi 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6293A>G		.	.	.	.	.	.	.	.	.	.	T	15.17	2.752715	0.49362	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.03	2.5	0.30297	Complement control module (2);Sushi/SCR/CCP (3);	0.244023	0.34245	N	0.004121	T	0.71126	0.3303	M	0.78801	2.425	0.80722	D	1	P;B;D	0.63046	0.56;0.09;0.992	P;P;P	0.57371	0.52;0.586;0.819	T	0.69928	-0.5012	10	0.62326	D	0.03	.	7.9832	0.30196	0.1393:0.0:0.1373:0.7234	.	2098;2098;2097	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	C	2098;2098;1959;2097;2097	ENSP00000383047:Y2098C;ENSP00000430733:Y2098C;ENSP00000441462:Y2097C;ENSP00000446243:Y2097C	ENSP00000320445:Y1959C	Y	-	2	0	CSMD1	2963468	1.000000	0.71417	0.956000	0.39512	0.928000	0.56348	3.191000	0.50981	0.281000	0.22233	0.460000	0.39030	TAC		0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		22	56	0	0	0	0	22	56				
PKHD1L1	93035	broad.mit.edu	37	8	110447468	110447468	+	Silent	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr8:110447468C>T	ENST00000378402.5	+	29	3494	c.3390C>T	c.(3388-3390)ccC>ccT	p.P1130P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1130	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACATGCCCCCGTTGCTGTGT	0.408										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(3388-3390)CCC>CCT		fibrocystin L precursor							169.0	168.0	168.0					8																	110447468		1854	4118	5972	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110447468C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3390C>T	8.37:g.110447468C>T		HNSCC(38;0.096)					p.P1130P	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		29	3494	+			1130			Extracellular (Potential).|IPT/TIG 4.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.3390C>T	CCDS47911.1																																																																																				0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		55	83	0	0	0	0	55	83				
LINGO2	158038	broad.mit.edu	37	9	27949442	27949442	+	Missense_Mutation	SNP	G	G	T	rs199551773		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:27949442G>T	ENST00000379992.2	-	6	1677	c.1228C>A	c.(1228-1230)Ccc>Acc	p.P410T	LINGO2_ENST00000308675.3_Missense_Mutation_p.P410T	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAG	0.488																																						uc003zqu.1		NA																	2	Substitution - Missense(2)		prostate(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1228-1230)CCC>ACC		leucine rich repeat and Ig domain containing 2							97.0	93.0	94.0					9																	27949442		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949442G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1228C>A	9.37:g.27949442G>T	ENSP00000369328:p.Pro410Thr					LINGO2_uc010mjf.1_Missense_Mutation_p.P410T|LINGO2_uc003zqv.1_Missense_Mutation_p.P410T	p.P410T	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1422	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	410			Ig-like C2-type.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1228C>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400240	0.62177	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	D;D	0.99789	-6.75;-6.75	6.16	6.16	0.99307	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.93550	3.43	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.97341	0.9957	9	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	410	Q7L985	LIGO2_HUMAN	T	410	ENSP00000369328:P410T;ENSP00000310126:P410T	.	P	-	1	0	LINGO2	27939442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.837000	0.99465	2.937000	0.99478	0.650000	0.86243	CCC		0.488	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		12	73	1	0	4.37e-10	4.96e-10	12	73				
PAX5	5079	broad.mit.edu	37	9	37015016	37015016	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:37015016G>A	ENST00000358127.4	-	3	462	c.388C>T	c.(388-390)Cct>Tct	p.P130S	PAX5_ENST00000523145.1_Missense_Mutation_p.P22S|PAX5_ENST00000522003.1_Missense_Mutation_p.P22S|PAX5_ENST00000520154.1_Missense_Mutation_p.P130S|PAX5_ENST00000377847.2_Missense_Mutation_p.P130S|PAX5_ENST00000414447.1_Missense_Mutation_p.P130S|PAX5_ENST00000377852.2_Missense_Mutation_p.P130S|PAX5_ENST00000523241.1_Missense_Mutation_p.P130S|PAX5_ENST00000520281.1_Missense_Mutation_p.P130S|PAX5_ENST00000377853.2_Missense_Mutation_p.P130S|PAX5_ENST00000446742.1_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	130	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(42)|p.N126_P130>RA(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CTGACGCTAGGCACGGTGTCA	0.572			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1		NA		Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	43	Unknown(42)|Complex - deletion inframe(1)	p.?(32)|p.N126_P130>RA(1)	haematopoietic_and_lymphoid_tissue(43)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.(388-390)CCT>TCT		paired box 5							181.0	167.0	172.0					9																	37015016		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37015016G>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.388C>T	9.37:g.37015016G>A	ENSP00000350844:p.Pro130Ser					PAX5_uc011lpw.1_Missense_Mutation_p.P130S|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Missense_Mutation_p.P22S|PAX5_uc010mls.1_Missense_Mutation_p.P130S|PAX5_uc011lpz.1_Missense_Mutation_p.P130S|PAX5_uc011lqa.1_Missense_Mutation_p.P22S|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.P130S|PAX5_uc010mlp.1_Missense_Mutation_p.P130S|PAX5_uc011lqc.1_Missense_Mutation_p.P130S|PAX5_uc010mlr.1_Missense_Mutation_p.P130S|PAX5_uc011lqd.1_Intron|PAX5_uc011lqe.1_RNA|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_RNA	p.P130S	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	3	836	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	130			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.388C>T	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087109	0.94100	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45	5.5	5.5	0.81552	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.056939	0.64402	D	0.000001	D	0.99832	0.9924	H	0.95114	3.625	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.998;0.998;0.998;1.0;0.999;0.998;0.998;0.998	D;D;D;D;D;D;D;D	0.83275	0.992;0.934;0.992;0.996;0.99;0.992;0.992;0.992	D	0.97041	0.9757	10	0.87932	D	0	.	19.8015	0.96509	0.0:0.0:1.0:0.0	.	130;130;130;130;130;130;130;130	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	S	130;22;130;130;130;130;130;22;22;130;130	ENSP00000350844:P130S;ENSP00000367084:P130S;ENSP00000367083:P130S;ENSP00000429637:P130S;ENSP00000429291:P130S;ENSP00000430773:P130S;ENSP00000429359:P22S;ENSP00000429197:P22S;ENSP00000412188:P130S;ENSP00000367078:P130S	ENSP00000350844:P130S	P	-	1	0	PAX5	37005016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.749000	0.94314	0.650000	0.86243	CCT		0.572	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			10	161	0	0	0	0	10	161				
AGTPBP1	23287	broad.mit.edu	37	9	88193977	88193977	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:88193977G>A	ENST00000357081.3	-	24	3344	c.3200C>T	c.(3199-3201)gCa>gTa	p.A1067V	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.A1079V|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.A1027V			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1067					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CATGCAAAATGCTGGGGCGAT	0.343																																						uc011ltd.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(3199-3201)GCA>GTA		ATP/GTP binding protein 1							98.0	91.0	93.0					9																	88193977		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88193977G>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3200C>T	9.37:g.88193977G>A	ENSP00000349592:p.Ala1067Val					AGTPBP1_uc004aod.3_Missense_Mutation_p.A693V|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.A1027V|AGTPBP1_uc011lte.1_Missense_Mutation_p.A1079V	p.A1067V	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			23	3233	-			1067					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.3200C>T		.	.	.	.	.	.	.	.	.	.	G	25.8	4.679930	0.88542	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.11712	2.75;2.75;2.75	5.52	5.52	0.82312	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.12732	0.0309	L	0.42686	1.345	0.80722	D	1	B;P;P	0.39576	0.081;0.679;0.511	B;B;B	0.38327	0.036;0.271;0.18	T	0.10613	-1.0622	10	0.20046	T	0.44	-23.2085	19.8253	0.96616	0.0:0.0:1.0:0.0	.	1079;1067;1027	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	V	1067;1027;1079	ENSP00000349592:A1067V;ENSP00000365251:A1027V;ENSP00000365277:A1079V	ENSP00000349592:A1067V	A	-	2	0	AGTPBP1	87383797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.932000	0.87634	2.773000	0.95371	0.650000	0.86243	GCA		0.343	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		44	35	0	0	0	0	44	35				
SPATA31C1	441452	broad.mit.edu	37	9	90538055	90538055	+	RNA	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:90538055C>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTTGCCATGCGCGCCATGCC	0.527																																						uc010mqi.2		NA																	0					0						c.(3232-3234)GCG>GTG		family with sequence similarity 75, member C1							53.0	46.0	48.0					9																	90538055		692	1591	2283			441452							g.chr9:90538055C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90538055C>T						FAM75C1_uc004apq.3_Missense_Mutation_p.A1061V	p.A1078V	NM_001145124	NP_001138596					4	3262	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.3233C>T																																																																																					0.527	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	116	0	0	0	0	5	116				
ROR2	4920	broad.mit.edu	37	9	94486331	94486331	+	Silent	SNP	C	C	T	rs202010959	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:94486331C>T	ENST00000375708.3	-	9	2643	c.2445G>A	c.(2443-2445)ccG>ccA	p.P815P	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	815	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTAGAGCTGCGGCGGGGGCA	0.677													C|||	2	0.000399361	0.0	0.0014	5008	,	,		15141	0.0		0.0	False		,,,				2504	0.001					uc004arj.1		NA																	0				lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(2443-2445)CCG>CCA		receptor tyrosine kinase-like orphan receptor 2							37.0	47.0	44.0					9																	94486331		2203	4298	6501	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486331C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2445G>A	9.37:g.94486331C>T						ROR2_uc004ari.1_Intron	p.P815P	NM_004560	NP_004551	Q01974	ROR2_HUMAN			9	2644	-			815			Cytoplasmic (Potential).|Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.2445G>A	CCDS6691.1																																																																																				0.677	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			8	78	0	0	0	0	8	78				
ZNF484	83744	broad.mit.edu	37	9	95609543	95609543	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:95609543G>T	ENST00000375495.3	-	5	1674	c.1526C>A	c.(1525-1527)tCa>tAa	p.S509*	ZNF484_ENST00000395505.2_Nonsense_Mutation_p.S473*|ZNF484_ENST00000332591.6_Nonsense_Mutation_p.S473*|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Nonsense_Mutation_p.S511*	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AATGAGATTTGACCTGTCAGT	0.393																																						uc004asu.1		NA																	0					0						c.(1525-1527)TCA>TAA		zinc finger protein 484 isoform a							100.0	105.0	104.0					9																	95609543		2203	4300	6503	SO:0001587	stop_gained	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609543G>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1526C>A	9.37:g.95609543G>T	ENSP00000364645:p.Ser509*					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.S511*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.S473*|ZNF484_uc004asv.1_Nonsense_Mutation_p.S473*	p.S509*	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	1675	-			509			C2H2-type 9.		B1AL89|B4DRI2	Nonsense_Mutation	SNP	ENST00000375495.3	37	c.1526C>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	28.5	4.926755	0.92319	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	.	.	.	2.32	2.32	0.28847	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4155	0.21714	0.0:0.0:0.7088:0.2912	.	.	.	.	X	473;511;509;473	.	ENSP00000364646:S473X	S	-	2	0	ZNF484	94649364	0.892000	0.30473	1.000000	0.80357	0.991000	0.79684	3.655000	0.54460	1.618000	0.50286	0.545000	0.68477	TCA		0.393	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		42	131	1	0	2.2e-31	2.58e-31	42	131				
GABBR2	9568	broad.mit.edu	37	9	101470780	101470780	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:101470780G>A	ENST00000259455.2	-	1	699	c.240C>T	c.(238-240)gcC>gcT	p.A80A		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	80					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CCAGTTCCACGGCGGGGAGCA	0.697																																						uc004ays.2		NA																	0				ovary(2)|skin(2)	4						c.(238-240)GCC>GCT		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						41.0	38.0	39.0					9																	101470780		2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101470780G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.240C>T	9.37:g.101470780G>A							p.A80A	NM_005458	NP_005449	O75899	GABR2_HUMAN			1	396	-		Acute lymphoblastic leukemia(62;0.0527)	80			Extracellular (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.240C>T	CCDS6736.1																																																																																				0.697	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			11	8	0	0	0	0	11	8				
BRINP1	1620	broad.mit.edu	37	9	121930087	121930087	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:121930087G>A	ENST00000265922.3	-	8	2022	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	521					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											ATGCGCTTGCGCCACCGAGGG	0.562																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1561-1563)CGC>TGC		deleted in bladder cancer 1 precursor							176.0	129.0	145.0					9																	121930087		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930087G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1561C>T	9.37:g.121930087G>A	ENSP00000265922:p.Arg521Cys						p.R521C	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	2017	-			521					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1561C>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541848	0.65198	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.20738	2.05	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.25012	-1.0144	10	0.87932	D	0	-23.0972	14.7179	0.69284	0.0:0.0:0.8551:0.1449	.	521	O60477	DBC1_HUMAN	C	521	ENSP00000265922:R521C	ENSP00000265922:R521C	R	-	1	0	DBC1	120969908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.468000	0.66743	2.702000	0.92279	0.655000	0.94253	CGC		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		20	28	0	0	0	0	20	28				
FNBP1	23048	broad.mit.edu	37	9	132740855	132740855	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:132740855G>A	ENST00000446176.2	-	4	420	c.234C>T	c.(232-234)aaC>aaT	p.N78N	FNBP1_ENST00000420781.1_Silent_p.N78N|FNBP1_ENST00000355681.3_Silent_p.N78N	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	78	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CATTCATTTCGTTCAGGTTGG	0.433			T	MLL	AML																																	uc004byw.1		NA		Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0					0						c.(232-234)AAC>AAT		formin binding protein 1							125.0	119.0	121.0					9																	132740855		1991	4178	6169	SO:0001819	synonymous_variant	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132740855G>A	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.234C>T	9.37:g.132740855G>A						FNBP1_uc011mbv.1_Silent_p.N78N|FNBP1_uc011mbw.1_Silent_p.N78N|FNBP1_uc004bza.2_Silent_p.N78N|FNBP1_uc004byz.1_Silent_p.N78N|FNBP1_uc004byx.1_Translation_Start_Site|FNBP1_uc004byy.1_Translation_Start_Site	p.N78N	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	4	453	-		Ovarian(14;0.000536)	78			Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Silent	SNP	ENST00000446176.2	37	c.234C>T	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	G	4.962	0.178786	0.09443	.	.	ENSG00000187239	ENST00000449089	.	.	.	5.86	-9.25	0.00666	.	.	.	.	.	T	0.71558	0.3354	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76788	-0.2830	4	.	.	.	-38.5324	21.3031	0.99951	0.8864:0.0:0.1136:0.0	.	.	.	.	M	40	.	.	T	-	2	0	FNBP1	131780676	0.786000	0.28738	0.050000	0.19076	0.522000	0.34438	-0.025000	0.12413	-1.940000	0.01043	-1.148000	0.01847	ACG		0.433	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			8	49	0	0	0	0	8	49				
LAMC3	10319	broad.mit.edu	37	9	133907471	133907471	+	Missense_Mutation	SNP	C	C	T	rs377375857		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:133907471C>T	ENST00000361069.4	+	3	851	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	240	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCTCTAGACCGGCTCAACAC	0.567																																						uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.(718-720)CGG>TGG		laminin, gamma 3 precursor		C	TRP/ARG	0,4406		0,0,2203	155.0	149.0	151.0		718	5.2	1.0	9		151	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMC3	NM_006059.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	240/1576	133907471	1,13005	2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133907471C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.718C>T	9.37:g.133907471C>T	ENSP00000354360:p.Arg240Trp						p.R240W	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	3	816	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	240			Laminin N-terminal.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.718C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.825068	0.71143	0.0	1.16E-4	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.80653	-1.4	5.18	5.18	0.71444	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92172	0.7518	H	0.95539	3.685	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93862	0.7154	10	0.87932	D	0	.	12.7498	0.57302	0.164:0.836:0.0:0.0	.	240	Q9Y6N6	LAMC3_HUMAN	W	240	ENSP00000354360:R240W	ENSP00000325873:R240W	R	+	1	2	LAMC3	132897292	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	1.672000	0.37523	2.426000	0.82243	0.563000	0.77884	CGG		0.567	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		10	149	0	0	0	0	10	149				
PARD3	56288	broad.mit.edu	37	10	34671799	34671808	+	Frame_Shift_Del	DEL	ATGGAACCAA	ATGGAACCAA	-			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:34671799_34671808delATGGAACCAA	ENST00000374789.3	-	9	1384_1393	c.1059_1068delTTGGTTCCAT	c.(1057-1068)atttggttccatfs	p.IWFH353fs	PARD3_ENST00000374788.3_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.IWFH309fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.IWFH83fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.IWFH309fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.IWFH309fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.IWFH353fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	353	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAGGAACCACATGGAACCAAATGATGGGTG	0.4																																						uc010qej.1		NA																	0				ovary(1)	1						c.(1057-1068)ATTTGGTTCCATfs		partitioning-defective protein 3 homolog																																				SO:0001589	frameshift_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671799_34671808delATGGAACCAA	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1059_1068delTTGGTTCCAT	10.37:g.34671799_34671808delATGGAACCAA	ENSP00000363921:p.Ile353fs					PARD3_uc010qek.1_Frame_Shift_Del_p.I353fs|PARD3_uc010qel.1_Frame_Shift_Del_p.I353fs|PARD3_uc010qem.1_Frame_Shift_Del_p.I353fs|PARD3_uc010qen.1_Frame_Shift_Del_p.I353fs|PARD3_uc010qeo.1_Frame_Shift_Del_p.I353fs|PARD3_uc010qep.1_Frame_Shift_Del_p.I309fs|PARD3_uc010qeq.1_Frame_Shift_Del_p.I309fs|PARD3_uc001ixo.1_Frame_Shift_Del_p.I83fs|PARD3_uc001ixp.1_Frame_Shift_Del_p.I218fs|PARD3_uc001ixq.1_Frame_Shift_Del_p.I353fs|PARD3_uc001ixr.1_Frame_Shift_Del_p.I353fs|PARD3_uc001ixt.1_Frame_Shift_Del_p.I174fs|PARD3_uc001ixu.1_Frame_Shift_Del_p.I309fs|PARD3_uc001ixs.1_Frame_Shift_Del_p.I6fs	p.I353fs	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			9	1059_1068	-		Breast(68;0.0707)	353_356			PDZ 1.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Del	DEL	ENST00000374789.3	37	c.1059_1068delTTGGTTCCAT	CCDS7178.1																																																																																				0.400	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		36	96	NA	NA	NA	NA	36	96	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7636068	7636069	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr12:7636068_7636069insA	ENST00000359156.4	-	12	3184_3185	c.2982_2983insT	c.(2980-2985)aatgaafs	p.E995fs	CD163_ENST00000541972.1_Frame_Shift_Ins_p.E983fs|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Frame_Shift_Ins_p.E995fs|CD163_ENST00000396620.3_Frame_Shift_Ins_p.E1028fs	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	995	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CACTTCACTTCATTGAGCCATA	0.515																																						uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(2980-2985)AATGAAfs		CD163 antigen isoform a																																				SO:0001589	frameshift_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7636068_7636069insA	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2983dupT	12.37:g.7636069_7636069dupA	ENSP00000352071:p.Glu995fs					CD163_uc001qta.3_Frame_Shift_Ins_p.N994fs|CD163_uc009zfw.2_Frame_Shift_Ins_p.N1027fs	p.N994fs	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			12	3110_3111	-			994_995			SRCR 9.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Frame_Shift_Ins	INS	ENST00000359156.4	37	c.2982_2983insT	CCDS8578.1																																																																																				0.515	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		25	48	NA	NA	NA	NA	25	48	---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52911893	52911894	+	Frame_Shift_Ins	INS	-	-	A	rs553755257		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr12:52911893_52911894insA	ENST00000252242.4	-	3	1214_1215	c.824_825insT	c.(823-825)ctgfs	p.L275fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	275	Coil 1B.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCACCTTCTTCAGCATCACAAA	0.52																																						uc001san.2		NA																	0					0						c.(823-825)CTGfs		keratin 5																																				SO:0001589	frameshift_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52911893_52911894insA		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.825dupT	12.37:g.52911894_52911894dupA	ENSP00000252242:p.Leu275fs					KRT5_uc009zmh.2_Frame_Shift_Ins_p.L275fs	p.L275fs	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	3	987_988	-			275			Rod.|Coil 1B.		Q6PI71|Q6UBJ0|Q8TA91	Frame_Shift_Ins	INS	ENST00000252242.4	37	c.824_825insT	CCDS8830.1																																																																																				0.520	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			93	158	NA	NA	NA	NA	93	158	---	---	---	---
GPR17	2840	broad.mit.edu	37	2	128409269	128409270	+	Frame_Shift_Ins	INS	-	-	C	rs375979218		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:128409269_128409270insC	ENST00000272644.3	+	3	1118_1119	c.1044_1045insC	c.(1045-1047)cccfs	p.P349fs	LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000544369.1_Frame_Shift_Ins_p.P349fs|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Frame_Shift_Ins_p.P349fs|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000324938.5_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	349					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCAAGGGCCCGCCCCCCAGCTT	0.619																																						uc010yzn.1		NA																	0					0						c.(1042-1047)CCGCCCfs		G protein-coupled receptor 17 isoform a																																				SO:0001589	frameshift_variant	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128409269_128409270insC		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.1050dupC	2.37:g.128409275_128409275dupC	ENSP00000272644:p.Pro349fs					LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Frame_Shift_Ins_p.P348fs|GPR17_uc010yzo.1_Frame_Shift_Ins_p.P320fs|GPR17_uc002tpd.2_Frame_Shift_Ins_p.P320fs	p.P348fs	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1655_1656	+	Colorectal(110;0.1)	Ovarian(717;0.15)	348_349			Cytoplasmic (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Frame_Shift_Ins	INS	ENST00000272644.3	37	c.1044_1045insC	CCDS2148.1																																																																																				0.619	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			34	65	NA	NA	NA	NA	34	65	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33063194	33063194	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr21:33063194delA	ENST00000286835.7	-	15	2183	c.1801delT	c.(1801-1803)tatfs	p.Y601fs	SCAF4_ENST00000434667.3_Frame_Shift_Del_p.Y586fs|SCAF4_ENST00000399804.1_Frame_Shift_Del_p.Y601fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	601						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CATGGAATATAAGTAACACCA	0.378																																						uc002ypd.2		NA																	0					0						c.(1801-1803)TATfs		splicing factor, arginine/serine-rich 15 isoform							199.0	191.0	193.0					21																	33063194		2203	4300	6503	SO:0001589	frameshift_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33063194delA	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1801delT	21.37:g.33063194delA	ENSP00000286835:p.Tyr601fs					SFRS15_uc002ype.2_Frame_Shift_Del_p.Y601fs|SFRS15_uc010glu.2_Frame_Shift_Del_p.Y586fs|SFRS15_uc002ypf.1_Frame_Shift_Del_p.Y275fs	p.Y601fs	NM_020706	NP_065757	O95104	SFR15_HUMAN			15	2227	-			601					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Frame_Shift_Del	DEL	ENST00000286835.7	37	c.1801delT	CCDS33537.1																																																																																				0.378	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		25	73	NA	NA	NA	NA	25	73	---	---	---	---
TBC1D10A	83874	broad.mit.edu	37	22	30688485	30688498	+	Frame_Shift_Del	DEL	ACATGCTGTGGGGG	ACATGCTGTGGGGG	-	rs145310510|rs61730760|rs201349507	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:30688485_30688498delACATGCTGTGGGGG	ENST00000215790.7	-	9	1557_1570	c.1393_1406delCCCCCACAGCATGT	c.(1393-1407)cccccacagcatgtgfs	p.PPQHV465fs	GATSL3_ENST00000404953.3_5'Flank|TBC1D10A_ENST00000403362.1_Frame_Shift_Del_p.PPQHV377fs|GATSL3_ENST00000407689.3_5'Flank|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Frame_Shift_Del_p.PPQHV472fs	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	465					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.V469G(1)|p.P466Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTTCGGGGGCACATGCTGTGGGGGACATGCATCT	0.636																																						uc011akt.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|skin(1)	ovary(1)	1						c.(1393-1407)CCCCCACAGCATGTGfs		TBC1 domain family, member 10A																																				SO:0001589	frameshift_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688485_30688498delACATGCTGTGGGGG	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1393_1406delCCCCCACAGCATGT	22.37:g.30688485_30688498delACATGCTGTGGGGG	ENSP00000215790:p.Pro465fs					GATSL3_uc003ahc.2_5'Flank|GATSL3_uc003ahe.2_5'Flank|GATSL3_uc003ahd.2_5'Flank|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'Flank|GATSL3_uc010gvs.2_5'Flank|TBC1D10A_uc003ahj.3_Frame_Shift_Del_p.P377fs|TBC1D10A_uc010gvu.2_Frame_Shift_Del_p.P472fs|TBC1D10A_uc003ahk.3_Frame_Shift_Del_p.P465fs	p.P465fs	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN			11	1417_1430	-			465_469					B3KXT8|O76053|Q20WK7|Q543A2	Frame_Shift_Del	DEL	ENST00000215790.7	37	c.1393_1406delCCCCCACAGCATGT	CCDS13874.1																																																																																				0.636	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		13	194	NA	NA	NA	NA	13	194	---	---	---	---
