#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_ACHILLES_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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CASZ1	54897	broad.mit.edu	37	1	10713525	10713525	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:10713525C>T	ENST00000377022.3	-	11	2906	c.2589G>A	c.(2587-2589)atG>atA	p.M863I	CASZ1_ENST00000344008.5_Missense_Mutation_p.M863I|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	863					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGATCCTCTCCATGATGGAGG	0.672																																							uc001aro.2		NA																	0				skin(1)	1						c.(2587-2589)ATG>ATA		castor homolog 1, zinc finger isoform a							33.0	39.0	37.0					1																	10713525		2202	4300	6502	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713525C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2589G>A	1.37:g.10713525C>T	ENSP00000366221:p.Met863Ile					CASZ1_uc001arp.1_Missense_Mutation_p.M863I|CASZ1_uc009vmx.2_Missense_Mutation_p.M887I	p.M863I	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2909	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	863					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.2589G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052425	0.36181	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	3.91	2.98	0.34508	.	0.215647	0.49916	N	0.000122	T	0.43122	0.1233	N	0.20986	0.625	0.40965	D	0.984652	B;B;B	0.12013	0.005;0.001;0.0	B;B;B	0.11329	0.006;0.003;0.002	T	0.35076	-0.9803	9	0.42905	T	0.14	-13.0653	13.6207	0.62136	0.156:0.844:0.0:0.0	.	887;863;863	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	I	863	.	ENSP00000339445:M863I	M	-	3	0	CASZ1	10636112	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.460000	0.60108	0.918000	0.36919	0.655000	0.94253	ATG		0.672	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		4	41	0	0	0	0.00116845	0	4	41				
LPHN2	23266	broad.mit.edu	37	1	82417722	82417722	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:82417722A>C	ENST00000370728.1	+	11	2323	c.1678A>C	c.(1678-1680)Agt>Cgt	p.S560R	LPHN2_ENST00000370713.1_Missense_Mutation_p.S560R|LPHN2_ENST00000394879.1_Missense_Mutation_p.S560R|LPHN2_ENST00000370725.1_Missense_Mutation_p.S560R|LPHN2_ENST00000335786.5_Missense_Mutation_p.S560R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.S560R|LPHN2_ENST00000271029.4_Missense_Mutation_p.S560R|LPHN2_ENST00000370721.1_Missense_Mutation_p.S498R|LPHN2_ENST00000370717.2_Missense_Mutation_p.S560R|LPHN2_ENST00000370730.1_Missense_Mutation_p.S560R|LPHN2_ENST00000370727.1_Missense_Mutation_p.S560R|LPHN2_ENST00000370715.1_Missense_Mutation_p.S560R|LPHN2_ENST00000359929.3_Missense_Mutation_p.S560R|LPHN2_ENST00000319517.6_Missense_Mutation_p.S560R			O95490	LPHN2_HUMAN	latrophilin 2	560					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGGGGATGTAAGTTCTTCAGT	0.433																																							uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1678-1680)AGT>CGT		latrophilin 2 precursor							140.0	117.0	125.0					1																	82417722		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82417722A>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1678A>C	1.37:g.82417722A>C	ENSP00000359763:p.Ser560Arg					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.S560R|LPHN2_uc001div.2_Missense_Mutation_p.S560R|LPHN2_uc009wcd.2_Missense_Mutation_p.S560R|LPHN2_uc001diw.2_Missense_Mutation_p.S131R	p.S560R	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	9	1859	+			560			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1678A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.2|21.2	4.108926|4.108926	0.77096|0.77096	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.08896|.	3.04;3.04;3.04;3.04;3.04;3.04;3.04;3.04;3.04;3.04;3.04;3.04;3.04;3.04|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.083576|.	0.85682|.	D|.	0.000000|.	T|.	0.66896|.	0.2836|.	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	P;D;P|.	0.55385|.	0.951;0.971;0.951|.	P;P;P|.	0.55785|.	0.784;0.733;0.784|.	T|.	0.66634|.	-0.5874|.	10|.	0.72032|.	D|.	0.01|.	.|.	16.6406|16.6406	0.85098|0.85098	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	560;560;560|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	R|Y	498;560;560;560;560;560;560;560;560;560;560;560;560;560|427	ENSP00000359756:S498R;ENSP00000359763:S560R;ENSP00000359765:S560R;ENSP00000359762:S560R;ENSP00000359760:S560R;ENSP00000359758:S560R;ENSP00000353006:S560R;ENSP00000359750:S560R;ENSP00000359748:S560R;ENSP00000322270:S560R;ENSP00000359752:S560R;ENSP00000378344:S560R;ENSP00000271029:S560R;ENSP00000337306:S560R|.	ENSP00000271029:S560R|.	S|X	+|+	1|3	0|2	LPHN2|LPHN2	82190310|82190310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.339000|9.339000	0.96797|0.96797	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	AGT|TAA		0.433	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		4	31	0	0	0	0.000602214	0	4	31				
COL11A1	1301	broad.mit.edu	37	1	103468348	103468348	+	Splice_Site	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:103468348C>T	ENST00000370096.3	-	22	2311		c.e22-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000461720.1_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGCCATACCCTGCAATGAAG	0.343																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.e22-1		alpha 1 type XI collagen isoform A							75.0	82.0	80.0					1																	103468348		2203	4299	6502	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103468348C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1999-1G>A	1.37:g.103468348C>T						COL11A1_uc001duk.2_Splice_Site|COL11A1_uc001dum.2_Splice_Site_p.G679_splice|COL11A1_uc001dun.2_Splice_Site_p.G628_splice|COL11A1_uc009weh.2_Splice_Site_p.G551_splice	p.G667_splice	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	22	2317	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.1999_splice	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430277	0.83776	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0757	0.97742	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103240936	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.185000	0.77714	2.820000	0.97059	0.655000	0.94253	.		0.343	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	5	27	0	0	0	0.000442599	0	5	27				
PBXIP1	57326	broad.mit.edu	37	1	154919177	154919177	+	Missense_Mutation	SNP	G	G	A	rs372206354		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:154919177G>A	ENST00000368463.3	-	10	1044	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R170W|PBXIP1_ENST00000539880.1_Missense_Mutation_p.R152W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R296W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	325					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCAGAGCCCGCTGGAAGGCT	0.672																																							uc001ffr.2		NA																	0				large_intestine(1)	1						c.(973-975)CGG>TGG		pre-B-cell leukemia homeobox interacting protein		G	TRP/ARG	1,4383		0,1,2191	18.0	20.0	19.0		973	3.5	1.0	1		19	0,8580		0,0,4290	no	missense	PBXIP1	NM_020524.2	101	0,1,6481	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	325/732	154919177	1,12963	2192	4290	6482	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154919177G>A	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.973C>T	1.37:g.154919177G>A	ENSP00000357448:p.Arg325Trp					PBXIP1_uc001ffs.2_Missense_Mutation_p.R296W|PBXIP1_uc010pep.1_Missense_Mutation_p.R170W	p.R325W	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1032	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		325			Potential.		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.973C>T	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592474	0.66219	2.28E-4	0.0	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.12569	2.67;2.67;2.68;2.67	4.49	3.55	0.40652	.	0.234678	0.37437	N	0.002082	T	0.11196	0.0273	L	0.54323	1.7	0.28752	N	0.901402	D	0.57571	0.98	P	0.51833	0.681	T	0.02015	-1.1229	10	0.72032	D	0.01	-18.1254	11.3908	0.49813	0.0:0.0:0.8178:0.1822	.	325	Q96AQ6	PBIP1_HUMAN	W	296;325;325;152;101;170	ENSP00000357450:R296W;ENSP00000357448:R325W;ENSP00000440142:R152W;ENSP00000438584:R170W	ENSP00000295523:R325W	R	-	1	2	PBXIP1	153185801	0.544000	0.26441	1.000000	0.80357	0.856000	0.48823	1.975000	0.40569	1.066000	0.40716	0.563000	0.77884	CGG		0.672	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		16	13	0	0	0	0.000422831	0	16	13				
CLK2	1196	broad.mit.edu	37	1	155240629	155240629	+	Missense_Mutation	SNP	C	C	T	rs373922154		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:155240629C>T	ENST00000368361.4	-	2	455	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000355560.4_Missense_Mutation_p.R47Q|CLK2_ENST00000361168.5_Missense_Mutation_p.R47Q|CLK2_ENST00000536801.1_Missense_Mutation_p.R47Q			P49760	CLK2_HUMAN	CDC-like kinase 2	47					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGTCCTCTCGCCGACGCCG	0.527								Other conserved DNA damage response genes																															uc001fjy.2		NA																	0					0						c.(139-141)CGA>CAA	Other_conserved_DNA_damage_response_genes	CDC-like kinase 2		C	GLN/ARG	0,4406		0,0,2203	108.0	102.0	104.0		140	4.5	0.9	1		104	1,8599		0,1,4299	no	missense	CLK2	NM_003993.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	47/499	155240629	1,13005	2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155240629C>T	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.140G>A	1.37:g.155240629C>T	ENSP00000357345:p.Arg47Gln					RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.R47Q|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Missense_Mutation_p.R47Q	p.R47Q	NM_003993	NP_003984	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	430	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		47					B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.140G>A		.	.	.	.	.	.	.	.	.	.	.	15.59	2.878833	0.51801	0.0	1.16E-4	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.55413	0.52;0.53;0.6;0.53	4.47	4.47	0.54385	.	0.575993	0.17336	N	0.177916	T	0.20981	0.0505	L	0.27053	0.805	0.40100	D	0.976361	B;B	0.12013	0.003;0.005	B;B	0.04013	0.0;0.001	T	0.06338	-1.0832	10	0.24483	T	0.36	.	9.6594	0.39945	0.0:0.9021:0.0:0.0979	.	47;47	P49760;P49760-3	CLK2_HUMAN;.	Q	47	ENSP00000354856:R47Q;ENSP00000357345:R47Q;ENSP00000347759:R47Q;ENSP00000441023:R47Q	ENSP00000347759:R47Q	R	-	2	0	CLK2	153507253	0.993000	0.37304	0.902000	0.35471	0.836000	0.47400	2.807000	0.47955	2.330000	0.79161	0.549000	0.68633	CGA		0.527	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		61	153	0	0	0	0.000781405	0	61	153				
VAMP4	8674	broad.mit.edu	37	1	171679944	171679944	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:171679944G>C	ENST00000236192.7	-	5	561	c.175C>G	c.(175-177)Caa>Gaa	p.Q59E	VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000367740.2_Missense_Mutation_p.Q58E|VAMP4_ENST00000415773.1_Missense_Mutation_p.Q58E	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	59	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCATCCACTTGATTCTGAACA	0.303																																							uc001ghx.1		NA																	0					0						c.(175-177)CAA>GAA		vesicle-associated membrane protein 4							178.0	175.0	176.0					1																	171679944		2203	4300	6503	SO:0001583	missense	8674				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome		g.chr1:171679944G>C	AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"""Vesicle-associated membrane proteins"""	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.175C>G	1.37:g.171679944G>C	ENSP00000236192:p.Gln59Glu					VAMP4_uc001ghw.1_RNA|VAMP4_uc001ghy.1_Missense_Mutation_p.Q58E|VAMP4_uc001ghv.1_5'Flank	p.Q59E	NM_003762	NP_003753	O75379	VAMP4_HUMAN			5	389	-	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		59			Cytoplasmic (Potential).|v-SNARE coiled-coil homology.		A2IDD8|Q96IY9|Q96J20|Q9UEL7	Missense_Mutation	SNP	ENST00000236192.7	37	c.175C>G	CCDS1298.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159973	0.57368	.	.	ENSG00000117533	ENST00000236192;ENST00000415773;ENST00000367740	T;T;T	0.40476	1.03;1.03;1.03	6.17	6.17	0.99709	Synaptobrevin (3);	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	N	0.20445	0.575	0.80722	D	1	P;B	0.35575	0.51;0.113	B;B	0.38683	0.279;0.111	T	0.03993	-1.0986	10	0.27785	T	0.31	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	58;59	O75379-2;O75379	.;VAMP4_HUMAN	E	59;58;58	ENSP00000236192:Q59E;ENSP00000415627:Q58E;ENSP00000356714:Q58E	ENSP00000236192:Q59E	Q	-	1	0	VAMP4	169946567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.086000	0.89520	2.941000	0.99782	0.655000	0.94253	CAA		0.303	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000304033.2	NM_003762		6	105	0	0	0	0.000157383	0	6	105				
PAPPA2	60676	broad.mit.edu	37	1	176563941	176563941	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:176563941G>A	ENST00000367662.3	+	3	2365	c.1201G>A	c.(1201-1203)Gca>Aca	p.A401T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A401T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	401					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCTTCATGGCATCTTGCCG	0.602																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1201-1203)GCA>ACA		pappalysin 2 isoform 1							93.0	94.0	93.0					1																	176563941		2047	4193	6240	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563941G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1201G>A	1.37:g.176563941G>A	ENSP00000356634:p.Ala401Thr					PAPPA2_uc001gky.1_Missense_Mutation_p.A401T|PAPPA2_uc009www.2_RNA	p.A401T	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2365	+			401					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1201G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919101	0.52546	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.74002	-0.8;-0.8	5.45	4.53	0.55603	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, subdomain 2 (1);	0.305675	0.36482	N	0.002568	T	0.71384	0.3333	L	0.59436	1.845	0.35787	D	0.822121	P;P	0.40534	0.589;0.72	B;B	0.40602	0.315;0.334	T	0.77747	-0.2472	10	0.42905	T	0.14	-5.4588	13.0622	0.59014	0.0:0.0:0.7076:0.2924	.	401;401	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	T	401	ENSP00000356634:A401T;ENSP00000356633:A401T	ENSP00000356633:A401T	A	+	1	0	PAPPA2	174830564	0.163000	0.22920	0.979000	0.43373	0.955000	0.61496	0.543000	0.23237	1.273000	0.44346	0.650000	0.86243	GCA		0.602	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			13	93	0	0	0	0.000219431	0	13	93				
LAMC2	3918	broad.mit.edu	37	1	183190037	183190037	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:183190037C>G	ENST00000264144.4	+	5	646	c.581C>G	c.(580-582)gCc>gGc	p.A194G	LAMC2_ENST00000493293.1_Missense_Mutation_p.A194G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	194	Laminin EGF-like 4; first part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGGCATTCAGCCAGCTGCCGC	0.453																																							uc001gqa.2		NA																	0				skin(2)|ovary(1)	3						c.(580-582)GCC>GGC		laminin, gamma 2 isoform a precursor							73.0	76.0	75.0					1																	183190037		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183190037C>G	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.581C>G	1.37:g.183190037C>G	ENSP00000264144:p.Ala194Gly					LAMC2_uc001gpz.3_Missense_Mutation_p.A194G|LAMC2_uc010poa.1_5'UTR	p.A194G	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			5	895	+			194			Laminin EGF-like 4; first part.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.581C>G	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018021	0.54576	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.17528	2.42;2.27	5.41	2.31	0.28768	Growth factor, receptor (1);	0.255242	0.32852	N	0.005562	T	0.17109	0.0411	L	0.50333	1.59	0.37332	D	0.910007	P;P	0.44044	0.605;0.825	B;B	0.43990	0.116;0.438	T	0.05818	-1.0862	10	0.62326	D	0.03	.	6.1896	0.20516	0.2411:0.576:0.1168:0.0662	.	194;194	Q13753;Q13753-2	LAMC2_HUMAN;.	G	194	ENSP00000432063:A194G;ENSP00000264144:A194G	ENSP00000264144:A194G	A	+	2	0	LAMC2	181456660	0.033000	0.19621	0.999000	0.59377	0.986000	0.74619	2.010000	0.40913	0.184000	0.20083	0.655000	0.94253	GCC		0.453	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		4	59	0	0	0	0.00024832	0	4	59				
CAMSAP2	23271	broad.mit.edu	37	1	200817373	200817373	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:200817373A>G	ENST00000236925.4	+	12	1558	c.1509A>G	c.(1507-1509)atA>atG	p.I503M	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.I476M|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.I492M			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	503					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AACTTAATATAGATTCTCACA	0.343																																							uc001gvl.2		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1507-1509)ATA>ATG		calmodulin regulated spectrin-associated protein							99.0	103.0	102.0					1																	200817373		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200817373A>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1509A>G	1.37:g.200817373A>G	ENSP00000236925:p.Ile503Met					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.I492M|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.I476M	p.I503M	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			12	1779	+			503					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.1509A>G		.	.	.	.	.	.	.	.	.	.	A	5.724	0.318031	0.10845	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14391	2.52;2.51;2.52	5.1	-6.35	0.01975	.	1.274220	0.05249	N	0.513694	T	0.03827	0.0108	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.36286	-0.9754	10	0.45353	T	0.12	-0.0159	1.5993	0.02671	0.311:0.0968:0.3214:0.2708	.	476;503;492	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	M	492;476;503	ENSP00000351684:I492M;ENSP00000416800:I476M;ENSP00000236925:I503M	ENSP00000236925:I503M	I	+	3	3	CAMSAP1L1	199083996	0.000000	0.05858	0.000000	0.03702	0.967000	0.64934	-0.793000	0.04589	-0.887000	0.03961	0.533000	0.62120	ATA		0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		36	72	0	0	0	0.000953801	0	36	72				
OR13G1	441933	broad.mit.edu	37	1	247836182	247836182	+	Silent	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:247836182C>A	ENST00000359688.2	-	1	183	c.162G>T	c.(160-162)acG>acT	p.T54T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATACATGGGCGTATGCAAGG	0.418																																							uc001idi.1		NA																	0				skin(1)	1						c.(160-162)ACG>ACT		olfactory receptor, family 13, subfamily G,							90.0	70.0	77.0					1																	247836182		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836182C>A	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.162G>T	1.37:g.247836182C>A							p.T54T	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	162	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		54			Helical; Name=2; (Potential).		B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.162G>T	CCDS31094.1																																																																																				0.418	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		10	34	1	0	2.17888e-05	0.000442599	0.000121836	10	34				
TUBB8	347688	broad.mit.edu	37	10	93320	93320	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:93320T>A	ENST00000309812.4	-	4	1074	c.1012A>T	c.(1012-1014)Agc>Tgc	p.S338C	TUBB8_ENST00000413237.3_5'Flank|TUBB8_ENST00000447903.2_Missense_Mutation_p.S266C	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	338					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		AAGTAACTGCTGTTCTTATCT	0.527																																					Pancreas(192;2041 3010 9013 18103)	Pancreas(192;2041 3010 9013 18103)	uc001ifi.2		NA																	0				ovary(1)	1						c.(1012-1014)AGC>TGC		tubulin, beta 8 isoform 1							89.0	99.0	96.0					10																	93320		2203	4300	6503	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93320T>A	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.1012A>T	10.37:g.93320T>A	ENSP00000311042:p.Ser338Cys					TUBB8_uc009xhe.2_Missense_Mutation_p.S301C|TUBB8_uc010pzs.1_Missense_Mutation_p.S266C	p.S338C	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	1012	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	338					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.1012A>T	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	T	6.255	0.415259	0.11870	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	D	0.82893	-1.66	.	.	.	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	U	0.000001	D	0.93520	0.7932	H	0.99682	4.7	0.35449	D	0.795511	D;B	0.76494	0.999;0.047	D;P	0.79784	0.993;0.482	D	0.90111	0.4192	9	0.87932	D	0	.	4.5487	0.12098	0.0:6.0E-4:0.0:0.9994	.	301;338	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	C	266;304;301;338	ENSP00000403895:S266C	ENSP00000272035:S304C	S	-	1	0	RP11-631M21.2	83320	1.000000	0.71417	0.133000	0.22050	0.133000	0.20885	5.418000	0.66429	0.103000	0.17682	0.102000	0.15555	AGC		0.527	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		41	103	0	0	0	0.00148497	0	41	103				
ADARB2	105	broad.mit.edu	37	10	1405829	1405830	+	Missense_Mutation	DNP	CG	CG	TT	rs551013892		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:1405829_1405830CG>TT	ENST00000381312.1	-	3	795_796	c.470_471CG>AA	c.(469-471)gCG>gAA	p.A157E	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	157	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCACCGCTACCGCGAAGACCGG	0.688																																							uc009xhq.2		NA																	0				large_intestine(2)|central_nervous_system(1)	3						c.(469-471)GCG>GAA		adenosine deaminase, RNA-specific, B2																																				SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405829_1405830CG>TT	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.470_471delinsTT	10.37:g.1405829_1405830delinsTT	ENSP00000370713:p.Ala157Glu						p.A157E	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	844_845	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	157			DRBM 1.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	DNP	ENST00000381312.1	37	c.470_471CG>AA	CCDS7058.1																																																																																				0.688	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		4	24	0	0	0	6.4e-05	0	4	24				
GPR158	57512	broad.mit.edu	37	10	25887907	25887907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:25887907G>T	ENST00000376351.3	+	11	3711	c.3352G>T	c.(3352-3354)Gaa>Taa	p.E1118*	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1118					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E1118K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGGGCAGAGCGAAGAACTGCC	0.473																																							uc001isj.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(3352-3354)GAA>TAA		G protein-coupled receptor 158 precursor							88.0	91.0	90.0					10																	25887907		2203	4300	6503	SO:0001587	stop_gained	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887907G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3352G>T	10.37:g.25887907G>T	ENSP00000365529:p.Glu1118*					GPR158_uc001isk.2_Nonsense_Mutation_p.E493*	p.E1118*	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	3412	+			1118			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Nonsense_Mutation	SNP	ENST00000376351.3	37	c.3352G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	39	7.871119	0.98537	.	.	ENSG00000151025	ENST00000376351	.	.	.	5.88	4.98	0.66077	.	0.330064	0.28841	N	0.013975	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	10.5654	0.45169	0.1474:0.0:0.8526:0.0	.	.	.	.	X	1118	.	ENSP00000365529:E1118X	E	+	1	0	GPR158	25927913	1.000000	0.71417	0.086000	0.20670	0.027000	0.11550	3.145000	0.50623	1.494000	0.48533	0.655000	0.94253	GAA		0.473	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		10	92	1	0	1.76689e-08	0.000442599	1.05385e-07	10	92				
MYO3A	53904	broad.mit.edu	37	10	26414396	26414396	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:26414396G>A	ENST00000265944.5	+	19	2139	c.1973G>A	c.(1972-1974)aGa>aAa	p.R658K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	658	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R658K(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTGGTCACTAGAGGAGAAACA	0.428																																							uc001isn.2		NA																	1	Substitution - Missense(1)	p.R658G(1)	lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1972-1974)AGA>AAA		myosin IIIA							108.0	103.0	105.0					10																	26414396		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26414396G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1973G>A	10.37:g.26414396G>A	ENSP00000265944:p.Arg658Lys					MYO3A_uc009xko.1_Missense_Mutation_p.R658K|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.R658K	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			19	2333	+			658			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1973G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	35	5.543608	0.96474	.	.	ENSG00000095777	ENST00000265944	D	0.86694	-2.16	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92172	0.7518	L	0.61218	1.895	0.80722	D	1	D	0.64830	0.994	D	0.64237	0.923	D	0.90154	0.4223	10	0.36615	T	0.2	.	20.2872	0.98536	0.0:0.0:1.0:0.0	.	658	Q8NEV4	MYO3A_HUMAN	K	658	ENSP00000265944:R658K	ENSP00000265944:R658K	R	+	2	0	MYO3A	26454402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.799000	0.96334	0.585000	0.79938	AGA		0.428	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		9	93	0	0	0	0.000442599	0	9	93				
ABI1	10006	broad.mit.edu	37	10	27060003	27060003	+	Splice_Site	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:27060003C>A	ENST00000376142.2	-	4	549		c.e4+1		ABI1_ENST00000376170.4_Splice_Site|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376140.3_Splice_Site|ABI1_ENST00000346832.5_Splice_Site|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000355394.4_Intron|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000359188.4_Splice_Site|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376138.3_Splice_Site|ABI1_ENST00000490841.2_Intron	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1						actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGCTCTTACCTTGGCTTTT	0.383																																							uc001isx.2		NA																	0				central_nervous_system(1)	1						c.e4+1		abl-interactor 1 isoform a							105.0	107.0	106.0					10																	27060003		2203	4300	6503	SO:0001630	splice_region_variant	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27060003C>A	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.477+1G>T	10.37:g.27060003C>A						ABI1_uc001ite.2_Intron|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Splice_Site_p.K159_splice|ABI1_uc001ita.2_Splice_Site_p.K159_splice|ABI1_uc001isz.2_Intron|ABI1_uc001itb.2_Splice_Site_p.K176_splice|ABI1_uc001itc.2_Splice_Site_p.K159_splice|ABI1_uc010qdj.1_Splice_Site_p.K159_splice|ABI1_uc001itd.2_Splice_Site_p.K159_splice|ABI1_uc010qdk.1_Splice_Site_p.K159_splice|ABI1_uc010qdg.1_Intron	p.K159_splice	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN			4	644	-								A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Splice_Site	SNP	ENST00000376142.2	37	c.477_splice	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389074	0.61956	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376142;ENST00000359188;ENST00000346832;ENST00000376140	.	.	.	5.65	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9765	0.47469	0.1282:0.8037:0.0:0.0681	.	.	.	.	.	-1	.	.	.	-	.	.	ABI1	27100009	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.597000	0.67577	1.346000	0.45694	0.491000	0.48974	.		0.383	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470	Intron	8	32	1	0	0.000157383	0.000157383	0.000865608	8	32				
MTPAP	55149	broad.mit.edu	37	10	30615549	30615549	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:30615549G>A	ENST00000263063.4	-	5	839	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	MTPAP_ENST00000358107.4_Silent_p.L396L|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	266					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AATTCCATCAGAAAATTTCCT	0.338																																							uc001iva.3		NA																	0				ovary(1)	1						c.(796-798)CTG>TTG		PAP associated domain containing 1 precursor							55.0	62.0	60.0					10																	30615549		2202	4300	6502	SO:0001819	synonymous_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30615549G>A	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.796C>T	10.37:g.30615549G>A						MTPAP_uc001ivb.3_Silent_p.L396L	p.L266L	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			5	859	-			266					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	ENST00000263063.4	37	c.796C>T	CCDS7165.1																																																																																				0.338	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		15	97	0	0	0	0.000308642	0	15	97				
PCDH15	65217	broad.mit.edu	37	10	55755520	55755520	+	Missense_Mutation	SNP	C	C	T	rs377014812		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:55755520C>T	ENST00000320301.6	-	21	3151	c.2757G>A	c.(2755-2757)atG>atA	p.M919I	PCDH15_ENST00000373965.2_Missense_Mutation_p.M926I|PCDH15_ENST00000361849.3_Missense_Mutation_p.M919I|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.M919I|PCDH15_ENST00000395438.1_Missense_Mutation_p.M919I|PCDH15_ENST00000437009.1_Missense_Mutation_p.M848I|PCDH15_ENST00000409834.1_Missense_Mutation_p.M530I|PCDH15_ENST00000395430.1_Missense_Mutation_p.M919I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.M897I|PCDH15_ENST00000414778.1_Missense_Mutation_p.M924I|PCDH15_ENST00000395445.1_Missense_Mutation_p.M926I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.M882I	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	919	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATAATCATTCATATCCTGTA	0.393										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2755-2757)ATG>ATA		protocadherin 15 isoform CD1-4 precursor							100.0	89.0	93.0					10																	55755520		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55755520C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2757G>A	10.37:g.55755520C>T	ENSP00000322604:p.Met919Ile	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.M924I|PCDH15_uc010qhr.1_Missense_Mutation_p.M919I|PCDH15_uc010qhs.1_Missense_Mutation_p.M931I|PCDH15_uc010qht.1_Missense_Mutation_p.M926I|PCDH15_uc010qhu.1_Missense_Mutation_p.M919I|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.M919I|PCDH15_uc010qhw.1_Missense_Mutation_p.M882I|PCDH15_uc010qhx.1_Missense_Mutation_p.M848I|PCDH15_uc010qhy.1_Missense_Mutation_p.M924I|PCDH15_uc010qhz.1_Missense_Mutation_p.M919I|PCDH15_uc010qia.1_Missense_Mutation_p.M897I|PCDH15_uc010qib.1_Missense_Mutation_p.M897I|PCDH15_uc001jjw.2_Missense_Mutation_p.M919I	p.M919I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			21	3152	-		Melanoma(3;0.117)|Lung SC(717;0.238)	919			Extracellular (Potential).|Cadherin 8.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2757G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925806	0.73213	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.59224	0.65;0.7;0.68;0.68;0.63;0.63;0.6;0.65;0.61;0.61;0.61;0.28	5.93	5.93	0.95920	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.59783	0.2219	N	0.05608	-0.01	0.80722	D	1	D;D;D;P;D;D;D;P;D;D;P;D;D;P	0.71674	0.959;0.972;0.972;0.573;0.998;0.991;0.959;0.935;0.98;0.991;0.945;0.991;0.997;0.869	D;P;P;B;D;D;D;P;D;P;P;P;D;P	0.81914	0.956;0.689;0.689;0.222;0.993;0.943;0.956;0.709;0.968;0.884;0.709;0.833;0.995;0.503	T	0.61486	-0.7053	9	0.27785	T	0.31	.	19.9262	0.97102	0.0:1.0:0.0:0.0	.	897;919;919;924;848;882;919;919;926;926;919;924;919;919	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	I	926;924;919;919;530;926;882;919;897;919;919;924;848;919	ENSP00000363076:M926I;ENSP00000410304:M924I;ENSP00000378826:M919I;ENSP00000386693:M530I;ENSP00000378832:M926I;ENSP00000378820:M882I;ENSP00000354950:M919I;ENSP00000378821:M897I;ENSP00000322604:M919I;ENSP00000378818:M919I;ENSP00000412628:M848I;ENSP00000363066:M919I	ENSP00000322604:M919I	M	-	3	0	PCDH15	55425526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.096000	0.76960	2.797000	0.96272	0.655000	0.94253	ATG		0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		10	22	0	0	0	0.000442599	0	10	22				
STOX1	219736	broad.mit.edu	37	10	70641845	70641845	+	Missense_Mutation	SNP	C	C	T	rs200722232		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:70641845C>T	ENST00000298596.6	+	2	525	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	STOX1_ENST00000399169.4_Missense_Mutation_p.R148C|STOX1_ENST00000421961.2_Missense_Mutation_p.R38C|STOX1_ENST00000399165.4_Missense_Mutation_p.R148C|STOX1_ENST00000399162.2_Missense_Mutation_p.R148C	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	148						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACTTTTGGAGCGTTTGATGAA	0.343																																							uc001jos.2		NA																	0				kidney(1)|skin(1)	2						c.(442-444)CGT>TGT		storkhead box 1 isoform a							128.0	115.0	119.0					10																	70641845		1841	4087	5928	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70641845C>T	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.442C>T	10.37:g.70641845C>T	ENSP00000298596:p.Arg148Cys					STOX1_uc001jor.2_Missense_Mutation_p.R148C|STOX1_uc009xpy.2_Missense_Mutation_p.R148C|STOX1_uc001joq.2_Missense_Mutation_p.R38C	p.R148C	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN			2	529	+			148					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.442C>T	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864883	0.51482	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000399162;ENST00000421961	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.57	4.67	0.58626	Storkhead-box protein, winged-helix domain (1);	0.446678	0.21920	U	0.067169	T	0.64204	0.2577	N	0.08118	0	0.36382	D	0.861994	P;P;D	0.54964	0.924;0.876;0.969	B;P;B	0.45138	0.34;0.471;0.34	T	0.74185	-0.3747	10	0.49607	T	0.09	.	14.5987	0.68424	0.0:0.9296:0.0:0.0704	.	148;148;148	Q6ZVD7-3;Q6ZVD7;Q6ZVD7-2	.;STOX1_HUMAN;.	C	148;148;148;148;38	ENSP00000382121:R148C;ENSP00000298596:R148C;ENSP00000382118:R148C;ENSP00000382115:R148C;ENSP00000394509:R38C	ENSP00000298596:R148C	R	+	1	0	STOX1	70311851	0.954000	0.32549	0.999000	0.59377	0.924000	0.55760	1.920000	0.40025	1.493000	0.48517	0.591000	0.81541	CGT		0.343	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		12	75	0	0	0	0.000422831	0	12	75				
DDX50	79009	broad.mit.edu	37	10	70706252	70706252	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:70706252G>A	ENST00000373585.3	+	15	2187	c.2080G>A	c.(2080-2082)Ggt>Agt	p.G694S	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	694	Arg-rich.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGGCCGGTCAGGTGGTCGATC	0.498																																							uc001jou.2		NA																	0				ovary(1)	1						c.(2080-2082)GGT>AGT		nucleolar protein GU2							43.0	44.0	44.0					10																	70706252		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70706252G>A	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.2080G>A	10.37:g.70706252G>A	ENSP00000362687:p.Gly694Ser					DDX50_uc010qjc.1_Intron	p.G694S	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN			15	2187	+			694			Arg-rich.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.2080G>A	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436738	0.62955	.	.	ENSG00000107625	ENST00000373585	T	0.21543	2.0	5.2	4.26	0.50523	.	0.525534	0.22998	N	0.053106	T	0.11623	0.0283	N	0.08118	0	0.43003	D	0.994521	B	0.30793	0.295	B	0.26310	0.068	T	0.12553	-1.0543	10	0.59425	D	0.04	-12.8346	13.0314	0.58845	0.0:0.1625:0.8375:0.0	.	694	Q9BQ39	DDX50_HUMAN	S	694	ENSP00000362687:G694S	ENSP00000362687:G694S	G	+	1	0	DDX50	70376258	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.273000	0.51623	1.270000	0.44297	0.467000	0.42956	GGT		0.498	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		6	41	0	0	0	0.00116845	0	6	41				
SAMD8	142891	broad.mit.edu	37	10	76910337	76910337	+	Silent	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:76910337A>G	ENST00000542569.1	+	2	154	c.51A>G	c.(49-51)gtA>gtG	p.V17V	SAMD8_ENST00000372690.3_Silent_p.V80V|SAMD8_ENST00000372687.4_Silent_p.V17V	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	17	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCAAGCATGTAGCTGTGTGGC	0.433																																							uc001jwx.1		NA																	0					0						c.(49-51)GTA>GTG		sterile alpha motif domain containing 8							128.0	119.0	122.0					10																	76910337		2203	4300	6503	SO:0001819	synonymous_variant	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76910337A>G	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.51A>G	10.37:g.76910337A>G						SAMD8_uc001jwy.1_Silent_p.V17V	p.V17V	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN			2	154	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		17			SAM.		Q5JSC5|Q5JSC8|Q66K52	Silent	SNP	ENST00000542569.1	37	c.51A>G	CCDS53543.1																																																																																				0.433	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		20	56	0	0	0	0.00121646	0	20	56				
DLG5	9231	broad.mit.edu	37	10	79553773	79553773	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:79553773G>T	ENST00000372391.2	-	31	5654	c.5649C>A	c.(5647-5649)taC>taA	p.Y1883*	RP13-39P12.3_ENST00000601701.1_RNA|DLG5_ENST00000459739.1_5'UTR|RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000372388.2_Nonsense_Mutation_p.Y1543*	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1883	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TACCTGTGAAGTACCTGCTGT	0.577																																							uc001jzk.2		NA																	0				ovary(5)|breast(3)	8						c.(5647-5649)TAC>TAA		discs large homolog 5							221.0	175.0	191.0					10																	79553773		2203	4300	6503	SO:0001587	stop_gained	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79553773G>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5649C>A	10.37:g.79553773G>T	ENSP00000361467:p.Tyr1883*					DLG5_uc001jzi.2_Nonsense_Mutation_p.Y638*|DLG5_uc001jzj.2_Nonsense_Mutation_p.Y1298*	p.Y1883*	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		31	5719	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1883			Guanylate kinase-like.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Nonsense_Mutation	SNP	ENST00000372391.2	37	c.5649C>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	38	6.805088	0.97853	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	.	.	.	5.72	2.43	0.29744	.	0.000000	0.33650	N	0.004695	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6502	0.39892	0.3636:0.0:0.6364:0.0	.	.	.	.	X	1883;844;1543	.	ENSP00000361464:Y1543X	Y	-	3	2	DLG5	79223779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.693000	0.37742	0.763000	0.33175	0.655000	0.94253	TAC		0.577	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			12	79	1	0	5.50884e-06	0.00136819	3.11935e-05	12	79				
NRG3	10718	broad.mit.edu	37	10	84744862	84744862	+	Missense_Mutation	SNP	C	C	T	rs150723859		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:84744862C>T	ENST00000404547.1	+	10	1664	c.1664C>T	c.(1663-1665)tCc>tTc	p.S555F	NRG3_ENST00000404576.2_Missense_Mutation_p.S335F|NRG3_ENST00000545131.1_Missense_Mutation_p.S181F|NRG3_ENST00000372141.2_Missense_Mutation_p.S531F|NRG3_ENST00000556918.1_Missense_Mutation_p.S361F|NRG3_ENST00000537893.1_Missense_Mutation_p.S181F|NRG3_ENST00000372142.2_Missense_Mutation_p.S334F			P56975	NRG3_HUMAN	neuregulin 3	555					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGGTATTCATCCAGTGGTTTA	0.393																																							uc001kco.2		NA																	0				lung(5)|breast(1)	6						c.(1591-1593)TCC>TTC		neuregulin 3 isoform 1		C	PHE/SER,PHE/SER,PHE/SER	2,4404	4.2+/-10.8	0,2,2201	136.0	150.0	145.0		1592,1589,1001	5.0	0.1	10	dbSNP_134	145	0,8600		0,0,4300	no	missense,missense,missense	NRG3	NM_001010848.3,NM_001165972.1,NM_001165973.1	155,155,155	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	531/697,530/696,334/500	84744862	2,13004	2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84744862C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1664C>T	10.37:g.84744862C>T	ENSP00000384796:p.Ser555Phe					NRG3_uc010qlz.1_Missense_Mutation_p.S530F|NRG3_uc001kcp.2_Missense_Mutation_p.S334F|NRG3_uc001kcq.2_Missense_Mutation_p.S181F|NRG3_uc001kcr.2_Missense_Mutation_p.S205F	p.S531F	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	9	1619	+			555			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1592C>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327010	0.41197	4.54E-4	0.0	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.61980	1.09;1.01;1.03;0.06;0.06;0.06;0.06	5.95	5.0	0.66597	.	0.417010	0.23232	N	0.050447	T	0.72534	0.3472	L	0.50333	1.59	0.30586	N	0.762045	D;P;P;D	0.71674	0.998;0.874;0.731;0.998	D;P;P;P	0.65443	0.935;0.568;0.549;0.904	T	0.72431	-0.4296	10	0.87932	D	0	-6.2629	14.3698	0.66830	0.0:0.8511:0.1489:0.0	.	530;555;334;531	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	F	531;555;530;334;335;361;181;181	ENSP00000361214:S531F;ENSP00000384796:S555F;ENSP00000361215:S334F;ENSP00000385804:S335F;ENSP00000451376:S361F;ENSP00000441201:S181F;ENSP00000440377:S181F	ENSP00000361214:S531F	S	+	2	0	NRG3	84734842	0.867000	0.29959	0.138000	0.22173	0.922000	0.55478	3.672000	0.54583	2.827000	0.97445	0.650000	0.86243	TCC		0.393	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		61	180	0	0	0	0.000781405	0	61	180				
NEURL1	9148	broad.mit.edu	37	10	105349409	105349409	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:105349409C>G	ENST00000369780.4	+	5	1887	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C	NEURL_ENST00000369777.2_Missense_Mutation_p.S476C|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		493					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGGGTAGCTCTGCTGGTGGT	0.652																																							uc001kxh.2		NA																	0					0						c.(1477-1479)TCT>TGT		neuralized-like							97.0	97.0	97.0					10																	105349409		2203	4300	6503	SO:0001583	missense	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105349409C>G																												ENST00000369780.4:c.1478C>G	10.37:g.105349409C>G	ENSP00000358795:p.Ser493Cys					SH3PXD2A_uc010qqr.1_Intron	p.S493C	NM_004210	NP_004201	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	5	1888	+			493					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	c.1478C>G	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445463	0.84101	.	.	ENSG00000107954	ENST00000369780;ENST00000369777	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	P	0.59703	0.862	T	0.79584	-0.1743	9	0.62326	D	0.03	-20.613	19.2614	0.93970	0.0:1.0:0.0:0.0	.	493	O76050	NEU1A_HUMAN	C	493;476	.	ENSP00000358792:S476C	S	+	2	0	NEURL	105339399	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.816000	0.75247	2.563000	0.86464	0.561000	0.74099	TCT		0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			8	75	0	0	0	0.000274275	0	8	75				
SORCS1	114815	broad.mit.edu	37	10	108434901	108434901	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:108434901C>T	ENST00000263054.6	-	14	1853	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E616K|SORCS1_ENST00000369698.1_Missense_Mutation_p.E151K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	616					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GATCTCCCTTCATCAAAACTC	0.378																																							uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1846-1848)GAA>AAA		SORCS receptor 1 isoform a							94.0	90.0	92.0					10																	108434901		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108434901C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1846G>A	10.37:g.108434901C>T	ENSP00000263054:p.Glu616Lys					SORCS1_uc001kyl.2_Missense_Mutation_p.E616K|SORCS1_uc009xxs.2_Missense_Mutation_p.E616K|SORCS1_uc001kyn.1_Missense_Mutation_p.E616K|SORCS1_uc001kyo.2_Missense_Mutation_p.E616K	p.E616K	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	14	1854	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	616			Lumenal (Potential).|BNR 5.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1846G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904948	0.92035	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.39229	1.09;1.09;1.09	5.92	5.02	0.67125	VPS10 (1);	0.048853	0.85682	N	0.000000	T	0.70613	0.3244	M	0.90309	3.105	0.48452	D	0.999656	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.77686	-0.2495	9	.	.	.	-17.4375	15.0633	0.71973	0.0:0.9322:0.0:0.0678	.	616;616;616;616;616	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	K	151;616;616	ENSP00000358712:E151K;ENSP00000263054:E616K;ENSP00000345964:E616K	.	E	-	1	0	SORCS1	108424891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	1.521000	0.48983	0.655000	0.94253	GAA		0.378	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		5	56	0	0	0	0.000602214	0	5	56				
CCDC186	55088	broad.mit.edu	37	10	115922598	115922598	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:115922598C>G	ENST00000369287.3	-	2	696	c.430G>C	c.(430-432)Gac>Cac	p.D144H	C10orf118_ENST00000369286.1_Missense_Mutation_p.D144H|C10orf118_ENST00000369285.3_Missense_Mutation_p.D144H	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		144										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTGGTGCAGTCTGTATCATAG	0.353																																							uc001lbb.1		NA																	0				ovary(2)	2						c.(430-432)GAC>CAC		CTCL tumor antigen L14-2							102.0	108.0	106.0					10																	115922598		2202	4299	6501	SO:0001583	missense	55088							g.chr10:115922598C>G																												ENST00000369287.3:c.430G>C	10.37:g.115922598C>G	ENSP00000358293:p.Asp144His					C10orf118_uc001lbc.1_Missense_Mutation_p.D144H|C10orf118_uc009xye.1_RNA|C10orf118_uc001lbd.2_Missense_Mutation_p.D144H|C10orf118_uc001lbe.2_Missense_Mutation_p.D144H	p.D144H	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	2	1082	-		Colorectal(252;0.172)|Breast(234;0.188)	144					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.430G>C	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262187	0.80358	.	.	ENSG00000165813	ENST00000369287;ENST00000430353;ENST00000369286;ENST00000369285	T;T;T	0.38077	1.16;1.16;1.16	5.27	5.27	0.74061	.	0.049287	0.85682	D	0.000000	T	0.57666	0.2069	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.60250	-0.7300	10	0.87932	D	0	.	17.1167	0.86690	0.0:1.0:0.0:0.0	.	144	Q7Z3E2	CJ118_HUMAN	H	144;250;144;144	ENSP00000358293:D144H;ENSP00000358292:D144H;ENSP00000358291:D144H	ENSP00000358291:D144H	D	-	1	0	C10orf118	115912588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.310000	0.65780	2.469000	0.83416	0.650000	0.86243	GAC		0.353	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			13	101	0	0	0	0.00185496	0	13	101				
PNLIP	5406	broad.mit.edu	37	10	118306878	118306878	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:118306878C>A	ENST00000369221.2	+	3	147	c.119C>A	c.(118-120)cCc>cAc	p.P40H	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	40					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	ACGGAAAGACCCCTCCATATA	0.438																																							uc001lcm.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(118-120)CCC>CAC		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						94.0	90.0	91.0					10																	118306878		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118306878C>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.119C>A	10.37:g.118306878C>A	ENSP00000358223:p.Pro40His						p.P40H	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	3	162	+			40					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.119C>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852254	0.51270	.	.	ENSG00000175535	ENST00000369221	D	0.90955	-2.76	5.36	5.36	0.76844	Lipase, N-terminal (1);	0.076583	0.56097	D	0.000033	D	0.96219	0.8767	M	0.90425	3.115	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	D	0.96554	0.9410	10	0.72032	D	0.01	.	18.0066	0.89211	0.0:1.0:0.0:0.0	.	40	P16233	LIPP_HUMAN	H	40	ENSP00000358223:P40H	ENSP00000358223:P40H	P	+	2	0	PNLIP	118296868	0.999000	0.42202	0.996000	0.52242	0.033000	0.12548	2.802000	0.47916	2.789000	0.95967	0.591000	0.81541	CCC		0.438	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		5	56	1	0	0.000602214	0.000602214	0.00325876	5	56				
PLEKHA7	144100	broad.mit.edu	37	11	16863240	16863240	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:16863240G>C	ENST00000355661.3	-	9	736	c.726C>G	c.(724-726)atC>atG	p.I242M	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.I242M|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.I242M|RN7SKP90_ENST00000363013.1_RNA			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	242	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGCTGTTATAGATGAGCGCTC	0.552																																							uc001mmo.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(724-726)ATC>ATG		pleckstrin homology domain containing, family A							68.0	59.0	62.0					11																	16863240		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16863240G>C	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.726C>G	11.37:g.16863240G>C	ENSP00000347883:p.Ile242Met					PLEKHA7_uc010rcu.1_Missense_Mutation_p.I242M	p.I242M	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			9	741	-			242			PH.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.726C>G	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225518	0.58668	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.08634	3.07;3.07;3.07	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.194975	0.53938	D	0.000054	T	0.17323	0.0416	L	0.34521	1.04	0.50313	D	0.999868	D;D	0.64830	0.991;0.994	P;D	0.66497	0.883;0.944	T	0.00110	-1.2047	10	0.72032	D	0.01	-16.8195	12.9846	0.58583	0.0839:0.0:0.9161:0.0	.	242;242	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	M	242	ENSP00000435389:I242M;ENSP00000347883:I242M;ENSP00000416895:I242M	ENSP00000347883:I242M	I	-	3	3	PLEKHA7	16819816	1.000000	0.71417	0.999000	0.59377	0.536000	0.34869	4.640000	0.61368	2.857000	0.98124	0.650000	0.86243	ATC		0.552	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		3	44	0	0	0	0.00024832	0	3	44				
SAAL1	113174	broad.mit.edu	37	11	18110877	18110877	+	Splice_Site	SNP	C	C	A	rs377347267		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:18110877C>A	ENST00000524803.1	-	7	819	c.770G>T	c.(769-771)cGt>cTt	p.R257L	SAAL1_ENST00000533851.1_5'Flank|SAAL1_ENST00000300013.4_Splice_Site_p.R257L|SAAL1_ENST00000529318.1_Splice_Site_p.R257L			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	257										breast(2)|large_intestine(5)|lung(8)	15						GCTCACCTACCGTACTTGTTT	0.433																																							uc001mnq.2		NA																	0					0						c.(769-771)CGT>CTT		serum amyloid A-like 1							87.0	82.0	84.0					11																	18110877		2200	4293	6493	SO:0001630	splice_region_variant	113174				acute-phase response	extracellular region	binding	g.chr11:18110877C>A	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.770+1G>T	11.37:g.18110877C>A						SAAL1_uc001mnr.2_Missense_Mutation_p.R257L|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.R257L	p.R257L	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN			7	820	-			257					A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	c.770G>T	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425428	0.83667	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000530436;ENST00000531751;ENST00000529318	T;T;T;T;T	0.36157	1.27;1.33;1.33;1.33;1.33	5.52	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (1);	0.054079	0.64402	D	0.000001	T	0.49064	0.1535	L	0.59436	1.845	0.46061	D	0.998847	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.56042	0.79;0.79;0.79	T	0.46992	-0.9151	9	.	.	.	-11.1848	14.6823	0.69026	0.0:0.8553:0.1447:0.0	.	257;257;257	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	L	257;257;94;146;257	ENSP00000432487:R257L;ENSP00000300013:R257L;ENSP00000432044:R94L;ENSP00000436031:R146L;ENSP00000432216:R257L	.	R	-	2	0	SAAL1	18067453	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.614000	0.61183	1.301000	0.44836	0.655000	0.94253	CGT		0.433	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421	Missense_Mutation	14	56	1	0	1.05317e-09	0.000219431	6.54331e-09	14	56				
EIF3M	10480	broad.mit.edu	37	11	32610279	32610279	+	Splice_Site	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:32610279G>A	ENST00000531120.1	+	3	377		c.e3+1		EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					GACTGCAGTTGTAAGTTAAGA	0.418																																							uc001mtu.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.e3+1		eukaryotic translation initiation factor 3,							133.0	127.0	129.0					11																	32610279		2202	4299	6501	SO:0001630	splice_region_variant	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32610279G>A	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.314+1G>A	11.37:g.32610279G>A						EIF3M_uc010ref.1_Intron	p.L105_splice	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN			3	357	+	Breast(20;0.109)								Splice_Site	SNP	ENST00000531120.1	37	c.314_splice	CCDS7880.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404441	0.42613	.	.	ENSG00000149100	ENST00000531120;ENST00000323213;ENST00000533439	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1761	0.93603	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3M	32566855	1.000000	0.71417	0.999000	0.59377	0.228000	0.25075	9.476000	0.97823	2.602000	0.87976	0.467000	0.42956	.		0.418	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360	Intron	23	71	0	0	0	0.000375601	0	23	71				
RAG1	5896	broad.mit.edu	37	11	36597777	36597777	+	Silent	SNP	C	C	A	rs121918570		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:36597777C>A	ENST00000299440.5	+	2	3035	c.2923C>A	c.(2923-2925)Cgg>Agg	p.R975R		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	975			R -> Q (in OS; dbSNP:rs150739647). {ECO:0000269|PubMed:11133745}.|R -> W (in CHIDG; reduced recombination activity; dbSNP:rs121918570). {ECO:0000269|PubMed:18463379}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TAGGCGCTTCCGGAAAATGAA	0.473									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	GRCh37	CM081767	RAG1	M	rs121918570	c.(2923-2925)CGG>AGG		recombination activating gene 1							95.0	100.0	98.0					11																	36597777		2202	4298	6500	SO:0001819	synonymous_variant	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597777C>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2923C>A	11.37:g.36597777C>A						RAG1_uc001mwt.2_Intron	p.R975R	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	3047	+	all_lung(20;0.226)	all_hematologic(20;0.107)	975		R -> W (in CHIDG; reduced recombination activity).|R -> Q (in OS).			E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	c.2923C>A	CCDS7902.1																																																																																				0.473	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		14	76	1	0	2.32078e-09	0.000308642	1.43525e-08	14	76				
FNBP4	23360	broad.mit.edu	37	11	47754218	47754218	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:47754218C>G	ENST00000263773.5	-	11	1703	c.1691G>C	c.(1690-1692)cGa>cCa	p.R564P	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	564						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GTCTGCAATTCGAGTCTAGAA	0.398																																							uc009ylv.2		NA																	0				ovary(1)	1						c.(1690-1692)CGA>CCA		formin binding protein 4							78.0	80.0	79.0					11																	47754218		1863	4094	5957	SO:0001583	missense	23360							g.chr11:47754218C>G	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1691G>C	11.37:g.47754218C>G	ENSP00000263773:p.Arg564Pro					FNBP4_uc001ngj.2_Missense_Mutation_p.R471P|FNBP4_uc001ngl.2_RNA	p.R564P	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			11	1844	-			564					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1691G>C	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904770	0.72868	.	.	ENSG00000109920	ENST00000263773	T	0.11495	2.77	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00657	-1.1623	10	0.62326	D	0.03	-13.7157	19.7604	0.96314	0.0:1.0:0.0:0.0	.	564	Q8N3X1	FNBP4_HUMAN	P	564	ENSP00000263773:R564P	ENSP00000263773:R564P	R	-	2	0	FNBP4	47710794	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.675000	0.91044	0.655000	0.94253	CGA		0.398	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			5	30	0	0	0	0.00116845	0	5	30				
OR4C16	219428	broad.mit.edu	37	11	55339900	55339900	+	Silent	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:55339900C>A	ENST00000314634.3	+	1	297	c.297C>A	c.(295-297)gtC>gtA	p.V99V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGATCCAAGTCTTTTCATCCC	0.473																																							uc010rih.1		NA																	0				ovary(1)|skin(1)	2						c.(295-297)GTC>GTA		olfactory receptor, family 4, subfamily C,							247.0	237.0	241.0					11																	55339900		2201	4296	6497	SO:0001819	synonymous_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339900C>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.297C>A	11.37:g.55339900C>A							p.V99V	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	297	+		all_epithelial(135;0.0748)	99			Helical; Name=3; (Potential).		Q6IEV8	Silent	SNP	ENST00000314634.3	37	c.297C>A	CCDS31502.1																																																																																				0.473	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		32	206	1	0	6.00712e-18	0.000409698	3.95174e-17	32	206				
STX5	6811	broad.mit.edu	37	11	62591939	62591939	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:62591939C>G	ENST00000294179.3	-	9	931	c.778G>C	c.(778-780)Gac>Cac	p.D260H	STX5_ENST00000377897.4_Missense_Mutation_p.D260H|STX5_ENST00000394690.1_Missense_Mutation_p.D206H|STX5_ENST00000541317.1_Missense_Mutation_p.D164H	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	260					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						ACCTGCTCGTCAATGAGCTGC	0.572																																							uc001nvh.2		NA																	0				ovary(1)|breast(1)	2						c.(778-780)GAC>CAC		syntaxin 5							108.0	105.0	106.0					11																	62591939		2201	4299	6500	SO:0001583	missense	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62591939C>G	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.778G>C	11.37:g.62591939C>G	ENSP00000294179:p.Asp260His					STX5_uc010rmi.1_Missense_Mutation_p.D164H|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.D206H|STX5_uc010rmj.1_Missense_Mutation_p.D260H|STX5_uc001nvj.2_Missense_Mutation_p.D75H	p.D260H	NM_003164	NP_003155	Q13190	STX5_HUMAN			9	932	-			260			Cytoplasmic (Potential).		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	c.778G>C	CCDS8038.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.104970|4.104970	0.77096|0.77096	.|.	.|.	ENSG00000162236|ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317|ENST00000431400	T;T;T;T|.	0.23552|.	1.9;1.9;1.9;1.9|.	5.56|5.56	5.56|5.56	0.83823|0.83823	t-SNARE (1);Target SNARE coiled-coil domain (1);|.	0.202711|.	0.49916|.	D|.	0.000127|.	T|T	0.76983|0.76983	0.4064|0.4064	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.994;0.989|.	D;P|.	0.65684|.	0.937;0.867|.	T|T	0.77032|0.77032	-0.2738|-0.2738	10|5	0.52906|.	T|.	0.07|.	-11.1481|-11.1481	17.0188|17.0188	0.86428|0.86428	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	260;260|.	F8W8Q9;Q13190|.	.;STX5_HUMAN|.	H|F	260;260;206;164|114	ENSP00000367129:D260H;ENSP00000294179:D260H;ENSP00000378182:D206H;ENSP00000441428:D164H|.	ENSP00000294179:D260H|.	D|L	-|-	1|3	0|2	STX5|STX5	62348515|62348515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	4.566000|4.566000	0.60843|0.60843	2.623000|2.623000	0.88846|0.88846	0.561000|0.561000	0.74099|0.74099	GAC|TTG		0.572	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		10	85	0	0	0	0.000978159	0	10	85				
DPF2	5977	broad.mit.edu	37	11	65113187	65113187	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:65113187C>T	ENST00000528416.1	+	7	821	c.688C>T	c.(688-690)Cac>Tac	p.H230Y	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Missense_Mutation_p.H244Y	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	230					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CCACTATGCCCACTCCCACTT	0.517																																							uc001odm.2		NA																	0				ovary(1)	1						c.(688-690)CAC>TAC		D4, zinc and double PHD fingers family 2							83.0	75.0	78.0					11																	65113187		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65113187C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.688C>T	11.37:g.65113187C>T	ENSP00000436901:p.His230Tyr					DPF2_uc001odn.2_Missense_Mutation_p.H244Y|DPF2_uc010roe.1_Intron	p.H230Y	NM_006268	NP_006259	Q92785	REQU_HUMAN			7	700	+			230			C2H2-type.		A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.688C>T	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614461	0.66672	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.91407	-2.84;-2.81	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.186393	0.25890	N	0.027635	D	0.90899	0.7140	M	0.83774	2.66	0.51233	D	0.999918	B	0.31100	0.308	B	0.29353	0.101	D	0.89693	0.3899	10	0.42905	T	0.14	-21.0132	16.3815	0.83462	0.0:1.0:0.0:0.0	.	230	Q92785	REQU_HUMAN	Y	230;244	ENSP00000436901:H230Y;ENSP00000252268:H244Y	ENSP00000252268:H244Y	H	+	1	0	DPF2	64869763	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.561000	0.82288	2.724000	0.93272	0.561000	0.74099	CAC		0.517	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		6	52	0	0	0	0.00116845	0	6	52				
SPTBN2	6712	broad.mit.edu	37	11	66460088	66460088	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:66460088C>T	ENST00000533211.1	-	26	5440	c.5109G>A	c.(5107-5109)ctG>ctA	p.L1703L	SPTBN2_ENST00000529997.1_Silent_p.L1703L|SPTBN2_ENST00000309996.2_Silent_p.L1703L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1703					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCAGGTCATCCAGCTCGCGGC	0.677																																							uc001ojd.2		NA																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(5107-5109)CTG>CTA		spectrin, beta, non-erythrocytic 2							48.0	45.0	46.0					11																	66460088		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460088C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5109G>A	11.37:g.66460088C>T							p.L1703L	NM_006946	NP_008877	O15020	SPTN2_HUMAN			25	5181	-			1703			Spectrin 14.		O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.5109G>A	CCDS8150.1																																																																																				0.677	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	37	0	0	0	0.000602214	0	5	37				
SHANK2	22941	broad.mit.edu	37	11	70332188	70332188	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:70332188C>A	ENST00000423696.2	-	15	3109	c.3073G>T	c.(3073-3075)Gat>Tat	p.D1025Y	SHANK2_ENST00000409161.1_Missense_Mutation_p.D808Y|SHANK2_ENST00000449833.2_Missense_Mutation_p.D809Y|SHANK2_ENST00000338508.4_Missense_Mutation_p.D1405Y			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1025					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AAAATAAAATCCTCATCCAAG	0.552																																							uc001oqc.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(4210-4212)GAT>TAT		SH3 and multiple ankyrin repeat domains 2							65.0	73.0	70.0					11																	70332188		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332188C>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3073G>T	11.37:g.70332188C>A	ENSP00000394536:p.Asp1025Tyr					SHANK2_uc010rqn.1_Missense_Mutation_p.D816Y|SHANK2_uc001opz.2_Missense_Mutation_p.D809Y|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.D1404Y	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	4288	-			1025					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4210G>T		.	.	.	.	.	.	.	.	.	.	C	18.94	3.730293	0.69074	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	5.66	5.66	0.87406	.	0.228496	0.51477	D	0.000087	T	0.49762	0.1576	M	0.64997	1.995	0.80722	D	1	P;D;D	0.69078	0.941;0.997;0.98	P;D;D	0.65010	0.583;0.931;0.931	T	0.47623	-0.9103	10	0.87932	D	0	.	19.756	0.96291	0.0:1.0:0.0:0.0	.	1025;1404;809	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	Y	809;808;683;1405;1025;1043;1028	ENSP00000399423:D809Y;ENSP00000386491:D808Y;ENSP00000402944:D683Y;ENSP00000345193:D1405Y;ENSP00000394536:D1025Y;ENSP00000294018:D1028Y	ENSP00000294018:D1028Y	D	-	1	0	SHANK2	70009836	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.205000	0.77881	2.665000	0.90641	0.655000	0.94253	GAT		0.552	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		10	66	1	0	1.08611e-07	0.000978159	6.36488e-07	10	66				
KIAA1377	57562	broad.mit.edu	37	11	101786027	101786027	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:101786027G>A	ENST00000263468.8	+	1	282	c.12G>A	c.(10-12)ggG>ggA	p.G4G	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	4										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGCTGGCGGGGAGGCCCGGAA	0.701																																							uc001pgm.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(10-12)GGG>GGA		hypothetical protein LOC57562							35.0	42.0	40.0					11																	101786027		2181	4268	6449	SO:0001819	synonymous_variant	57562						protein binding	g.chr11:101786027G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.12G>A	11.37:g.101786027G>A						ANGPTL5_uc001pgl.2_Intron	p.G4G	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	1	282	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	4					Q4G0U6	Silent	SNP	ENST00000263468.8	37	c.12G>A	CCDS31658.1																																																																																				0.701	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		6	52	0	0	0	0.00116845	0	6	52				
CCDC77	84318	broad.mit.edu	37	12	541095	541095	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:541095G>C	ENST00000239830.4	+	8	826	c.647G>C	c.(646-648)aGa>aCa	p.R216T	CCDC77_ENST00000540180.1_Missense_Mutation_p.R184T|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000422000.1_Missense_Mutation_p.R184T|CCDC77_ENST00000412006.2_Missense_Mutation_p.R184T	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	216						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CATTACCAAAGAGACATACAG	0.378																																							uc001qig.2		NA																	0				ovary(1)	1						c.(646-648)AGA>ACA		coiled-coil domain containing 77 isoform a							109.0	96.0	101.0					12																	541095		2203	4300	6503	SO:0001583	missense	84318					centrosome		g.chr12:541095G>C	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.647G>C	12.37:g.541095G>C	ENSP00000239830:p.Arg216Thr					CCDC77_uc009zdk.2_Missense_Mutation_p.R184T|CCDC77_uc010sdp.1_Missense_Mutation_p.R184T|CCDC77_uc010sdq.1_Missense_Mutation_p.R184T	p.R216T	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		8	827	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		216			Potential.		B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	c.647G>C	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	G	7.410	0.634642	0.14322	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.56	3.74	0.42951	.	0.346744	0.37393	N	0.002119	T	0.36936	0.0985	M	0.64997	1.995	0.21499	N	0.999668	P	0.35272	0.493	B	0.35607	0.206	T	0.17048	-1.0382	10	0.20519	T	0.43	-1.1202	8.8808	0.35374	0.2386:0.0:0.7614:0.0	.	216	Q9BR77	CCD77_HUMAN	T	184;184;184;216;184	ENSP00000440554:R184T;ENSP00000391870:R184T;ENSP00000445873:R184T;ENSP00000239830:R216T;ENSP00000412925:R184T	ENSP00000239830:R216T	R	+	2	0	CCDC77	411356	1.000000	0.71417	0.191000	0.23289	0.029000	0.11900	3.106000	0.50322	0.724000	0.32296	0.313000	0.20887	AGA		0.378	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		8	50	0	0	0	0.000673444	0	8	50				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GAT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	p.G12D	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		3	16	0	0	0	6.4e-05	0	3	16				
ACVRL1	94	broad.mit.edu	37	12	52314550	52314550	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:52314550C>G	ENST00000388922.4	+	10	1668	c.1385C>G	c.(1384-1386)tCa>tGa	p.S462*	ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.S288*|ACVRL1_ENST00000550683.1_Nonsense_Mutation_p.S476*	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAGGTCCTCTCAGGCCTAGCT	0.582																																							uc001rzj.2		NA																	0				lung(2)	2	GRCh37	CM044558	ACVRL1	M		c.(1384-1386)TCA>TGA		activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)						54.0	51.0	52.0					12																	52314550		2203	4300	6503	SO:0001587	stop_gained	94	Hereditary_Hemorrhagic_Telangiectasia			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52314550C>G	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1385C>G	12.37:g.52314550C>G	ENSP00000373574:p.Ser462*					ACVRL1_uc001rzk.2_Nonsense_Mutation_p.S462*|ACVRL1_uc010snm.1_Nonsense_Mutation_p.S288*	p.S462*	NM_000020	NP_000011	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	10	1668	+			462			Cytoplasmic (Potential).|Protein kinase.		A6NGA8	Nonsense_Mutation	SNP	ENST00000388922.4	37	c.1385C>G	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	38	6.680022	0.97755	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	.	.	.	4.41	4.41	0.53225	.	0.000000	0.29853	N	0.011040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	16.1685	0.81786	0.0:1.0:0.0:0.0	.	.	.	.	X	462;462;476;288;288	.	ENSP00000267008:S462X	S	+	2	0	ACVRL1	50600817	0.997000	0.39634	1.000000	0.80357	0.945000	0.59286	4.020000	0.57189	2.184000	0.69523	0.313000	0.20887	TCA		0.582	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			4	27	0	0	0	0.000602214	0	4	27				
KRT80	144501	broad.mit.edu	37	12	52565271	52565271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:52565271G>A	ENST00000394815.2	-	9	1367	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	KRT80_ENST00000313234.5_3'UTR	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	424	Tail.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TTCTTCTTTCGGGAGGGGGCC	0.562																																					GBM(178;2309 2916 15678 35873)	GBM(178;2309 2916 15678 35873)	uc001rzx.2		NA																	0					0						c.(1270-1272)CGA>TGA		keratin 80 isoform a							44.0	48.0	46.0					12																	52565271		2203	4300	6503	SO:0001587	stop_gained	144501					keratin filament	structural molecule activity	g.chr12:52565271G>A	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.1270C>T	12.37:g.52565271G>A	ENSP00000378292:p.Arg424*					KRT80_uc001rzw.2_Nonsense_Mutation_p.R459*|KRT80_uc001rzy.2_3'UTR	p.R424*	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	9	1368	-			424			Tail.		Q6P1A5|Q7Z3Q0	Nonsense_Mutation	SNP	ENST00000394815.2	37	c.1270C>T	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	g	36	5.923365	0.97110	.	.	ENSG00000167767	ENST00000394815	.	.	.	4.47	1.47	0.22746	.	0.000000	0.34110	N	0.004244	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	2.867	0.05604	0.0911:0.1558:0.4399:0.3132	.	.	.	.	X	424	.	ENSP00000378292:R424X	R	-	1	2	KRT80	50851538	0.002000	0.14202	0.998000	0.56505	0.952000	0.60782	0.202000	0.17295	0.208000	0.20626	0.651000	0.88453	CGA		0.562	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		13	72	0	0	0	0.00136819	0	13	72				
CNPY2	10330	broad.mit.edu	37	12	56712094	56712094	+	5'Flank	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:56712094G>A	ENST00000273308.4	-	0	0				PAN2_ENST00000425394.2_Silent_p.L1167L|RP11-977G19.10_ENST00000549318.1_5'Flank|PAN2_ENST00000440411.3_Silent_p.L1163L|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000257931.5_Silent_p.L1166L|CNPY2_ENST00000551720.1_5'Flank|PAN2_ENST00000548043.1_Silent_p.L1167L	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						AAAGACCCTTGAGCACCTTGT	0.512																																							uc001skx.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(3499-3501)CTC>CTT		PAN2 polyA specific ribonuclease subunit homolog							163.0	152.0	156.0					12																	56712094		2203	4300	6503	SO:0001631	upstream_gene_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56712094G>A	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56712094G>A	Exception_encountered					CNPY2_uc001sku.1_5'Flank|CNPY2_uc001skv.2_5'Flank|PAN2_uc001skw.2_Silent_p.L315L|PAN2_uc001skz.2_Silent_p.L1166L|PAN2_uc001sky.2_Silent_p.L1163L	p.L1167L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			25	3874	-			1167					B2R7B9|Q9UHE9	Silent	SNP	ENST00000273308.4	37	c.3501C>T	CCDS8914.1																																																																																				0.512	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		25	112	0	0	0	0.000878237	0	25	112				
ARHGEF25	115557	broad.mit.edu	37	12	58009310	58009310	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:58009310C>G	ENST00000286494.4	+	12	1514	c.1054C>G	c.(1054-1056)Cag>Gag	p.Q352E	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.Q391E|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	352	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						ACTGACTGCTCAGGGGAAGCT	0.552																																							uc001spb.2		NA																	0					0						c.(1054-1056)CAG>GAG		RhoA/RAC/CDC42 exchange factor isoform 1							45.0	45.0	45.0					12																	58009310		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58009310C>G		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1054C>G	12.37:g.58009310C>G	ENSP00000286494:p.Gln352Glu					GEFT_uc009zpy.2_Missense_Mutation_p.Q391E|GEFT_uc001soz.1_Missense_Mutation_p.Q200E|GEFT_uc001spa.2_Missense_Mutation_p.Q246E|uc001spc.2_RNA|GEFT_uc001spd.2_Missense_Mutation_p.Q57E	p.Q352E	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN			12	1514	+	Melanoma(17;0.122)		352			PH.		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1054C>G	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.075927	0.76415	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.12879	2.64;2.64	4.66	4.66	0.58398	Pleckstrin homology domain (1);	0.000000	0.35805	N	0.002969	T	0.45895	0.1365	M	0.91300	3.195	0.80722	D	1	P;D;D	0.76494	0.939;0.998;0.999	P;D;D	0.76071	0.708;0.953;0.987	T	0.57051	-0.7877	10	0.87932	D	0	.	15.463	0.75373	0.0:1.0:0.0:0.0	.	391;352;200	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	E	391;200;352	ENSP00000335560:Q391E;ENSP00000286494:Q352E	ENSP00000286494:Q352E	Q	+	1	0	ARHGEF25	56295577	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.212000	0.77941	2.609000	0.88269	0.561000	0.74099	CAG		0.552	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		9	58	0	0	0	0.000274275	0	9	58				
YEATS4	8089	broad.mit.edu	37	12	69783951	69783951	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:69783951G>C	ENST00000247843.2	+	7	809	c.539G>C	c.(538-540)aGa>aCa	p.R180T	YEATS4_ENST00000548020.1_Missense_Mutation_p.R126T	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	180	Interaction with MLLT10.|Interaction with TACC1.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GTGAAAACCAGAGAAAAATTA	0.294																																							uc001sux.2		NA																	0					0						c.(538-540)AGA>ACA		glioma-amplified sequence-41							27.0	29.0	28.0					12																	69783951		2196	4297	6493	SO:0001583	missense	8089				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton	g.chr12:69783951G>C	AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.539G>C	12.37:g.69783951G>C	ENSP00000247843:p.Arg180Thr						p.R180T	NM_006530	NP_006521	O95619	YETS4_HUMAN	Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		7	760	+	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		180			Interaction with MLLT10.|Potential.|Interaction with TACC1.		Q9NQD0	Missense_Mutation	SNP	ENST00000247843.2	37	c.539G>C	CCDS8990.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617330	0.28801	.	.	ENSG00000127337	ENST00000247843;ENST00000548020	.	.	.	5.77	5.77	0.91146	.	0.130912	0.64402	N	0.000003	T	0.35856	0.0946	N	0.08118	0	0.47862	D	0.999538	B	0.06786	0.001	B	0.06405	0.002	T	0.22068	-1.0227	8	.	.	.	-31.181	13.5594	0.61779	0.0711:0.0:0.9289:0.0	.	180	O95619	YETS4_HUMAN	T	180;126	.	.	R	+	2	0	YEATS4	68070218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.860000	0.62961	2.885000	0.99019	0.655000	0.94253	AGA		0.294	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	NM_006530		5	28	0	0	0	0.000602214	0	5	28				
LGR5	8549	broad.mit.edu	37	12	71978333	71978333	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:71978333G>A	ENST00000266674.5	+	18	2854	c.2543G>A	c.(2542-2544)aGc>aAc	p.S848N	LGR5_ENST00000536515.1_Missense_Mutation_p.S776N|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.S824N			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	848					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.S848I(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AAACACCCAAGCTTGATGTCA	0.448																																							uc001swl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(2542-2544)AGC>AAC		leucine-rich repeat-containing G protein-coupled							145.0	140.0	142.0					12																	71978333		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978333G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2543G>A	12.37:g.71978333G>A	ENSP00000266674:p.Ser848Asn					LGR5_uc001swm.2_Missense_Mutation_p.S824N|LGR5_uc001swn.1_RNA	p.S848N	NM_003667	NP_003658	O75473	LGR5_HUMAN			18	2591	+			848			Cytoplasmic (Potential).		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.2543G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206086	0.39003	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.40476	1.03;1.03;1.03	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	M	0.70595	2.14	0.33913	D	0.639958	B;B	0.30563	0.285;0.048	B;B	0.28553	0.091;0.015	T	0.58951	-0.7545	10	0.52906	T	0.07	.	20.3552	0.98837	0.0:0.0:1.0:0.0	.	824;848	O75473-2;O75473	.;LGR5_HUMAN	N	848;776;824	ENSP00000266674:S848N;ENSP00000443033:S776N;ENSP00000441035:S824N	ENSP00000266674:S848N	S	+	2	0	LGR5	70264600	1.000000	0.71417	0.993000	0.49108	0.902000	0.53008	4.989000	0.63870	2.812000	0.96745	0.557000	0.71058	AGC		0.448	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		6	102	0	0	0	0.00116845	0	6	102				
OSBPL8	114882	broad.mit.edu	37	12	76763510	76763510	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:76763510G>C	ENST00000261183.3	-	20	2626	c.2147C>G	c.(2146-2148)gCt>gGt	p.A716G	OSBPL8_ENST00000393249.2_Missense_Mutation_p.A674G|OSBPL8_ENST00000393250.4_Missense_Mutation_p.A674G	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	716					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATCCCTGGCAGCTTGTCTTTG	0.413																																							uc001sye.1		NA																	0				ovary(1)	1						c.(2146-2148)GCT>GGT		oxysterol-binding protein-like protein 8 isoform							151.0	127.0	135.0					12																	76763510		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76763510G>C	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2147C>G	12.37:g.76763510G>C	ENSP00000261183:p.Ala716Gly					OSBPL8_uc001syf.1_Missense_Mutation_p.A674G|OSBPL8_uc001syg.1_Missense_Mutation_p.A674G|OSBPL8_uc001syh.1_Missense_Mutation_p.A691G	p.A716G	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			20	2627	-			716					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.2147C>G	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390965	0.42410	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.45	5.45	0.79879	.	0.546602	0.21366	N	0.075717	T	0.31071	0.0785	L	0.51853	1.615	0.34721	D	0.728764	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.25745	-1.0123	10	0.34782	T	0.22	-0.4531	16.1628	0.81731	0.0:0.1423:0.8577:0.0	.	691;716	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	G	674;716;701;674;716;716;691	ENSP00000376939:A674G;ENSP00000261183:A716G;ENSP00000376940:A674G;ENSP00000450238:A716G;ENSP00000447893:A691G	ENSP00000261183:A716G	A	-	2	0	OSBPL8	75287641	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	5.240000	0.65378	2.703000	0.92315	0.655000	0.94253	GCT		0.413	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		7	52	0	0	0	0.000157383	0	7	52				
USP44	84101	broad.mit.edu	37	12	95912001	95912001	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:95912001G>C	ENST00000258499.3	-	6	2356	c.2068C>G	c.(2068-2070)Cca>Gca	p.P690A	USP44_ENST00000537435.2_Missense_Mutation_p.P690A|USP44_ENST00000393091.2_Missense_Mutation_p.P690A|USP44_ENST00000552440.1_3'UTR	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	690					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AGGAGCTCTGGAGGCAAAAGT	0.433																																							uc001teg.2		NA																	0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(2068-2070)CCA>GCA		ubiquitin thiolesterase 44							125.0	120.0	122.0					12																	95912001		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95912001G>C	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.2068C>G	12.37:g.95912001G>C	ENSP00000258499:p.Pro690Ala					USP44_uc001teh.2_Missense_Mutation_p.P690A|USP44_uc009zte.2_Missense_Mutation_p.P687A	p.P690A	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN			6	2212	-			690					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.2068C>G	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855381	0.51376	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.03920	3.76;3.76;3.76	4.93	4.04	0.47022	.	0.214159	0.33364	N	0.004997	T	0.02418	0.0074	N	0.08118	0	0.26675	N	0.971644	P	0.35745	0.518	B	0.30316	0.114	T	0.47420	-0.9119	10	0.17369	T	0.5	.	11.7852	0.52039	0.0811:0.0:0.9189:0.0	.	690	Q9H0E7	UBP44_HUMAN	A	690	ENSP00000258499:P690A;ENSP00000376806:P690A;ENSP00000442629:P690A	ENSP00000258499:P690A	P	-	1	0	USP44	94436132	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.805000	0.55575	1.333000	0.45449	0.555000	0.69702	CCA		0.433	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		5	69	0	0	0	0.00116845	0	5	69				
POLR3B	55703	broad.mit.edu	37	12	106853102	106853102	+	Silent	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:106853102A>T	ENST00000228347.4	+	22	2748	c.2526A>T	c.(2524-2526)ggA>ggT	p.G842G	POLR3B_ENST00000539066.1_Silent_p.G784G	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	842					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CTTTGGAAGGAAGTAATGTAC	0.378																																							uc001tlp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2524-2526)GGA>GGT		DNA-directed RNA polymerase III B isoform 1							153.0	131.0	138.0					12																	106853102		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106853102A>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2526A>T	12.37:g.106853102A>T						POLR3B_uc001tlq.2_Silent_p.G784G	p.G842G	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			22	2748	+			842					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.2526A>T	CCDS9105.1																																																																																				0.378	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		7	59	0	0	0	8.12818e-05	0	7	59				
CUX2	23316	broad.mit.edu	37	12	111742083	111742083	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:111742083C>A	ENST00000261726.6	+	10	977	c.823C>A	c.(823-825)Cgc>Agc	p.R275S	AC002979.1_ENST00000408459.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	275					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAGCTCCATCCGCCTGGCTTG	0.642																																							uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(823-825)CGC>AGC		cut-like 2							41.0	48.0	46.0					12																	111742083		2031	4185	6216	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111742083C>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.823C>A	12.37:g.111742083C>A	ENSP00000261726:p.Arg275Ser						p.R275S	NM_015267	NP_056082	O14529	CUX2_HUMAN			10	976	+			275			Potential.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.823C>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295841	0.60086	.	.	ENSG00000111249	ENST00000261726	T	0.45276	0.9	4.8	4.8	0.61643	.	0.347819	0.29783	N	0.011219	T	0.36193	0.0958	L	0.56769	1.78	0.35085	D	0.763752	P	0.41080	0.737	B	0.33392	0.163	T	0.54997	-0.8209	10	0.40728	T	0.16	-19.4581	13.2409	0.59995	0.1589:0.8411:0.0:0.0	.	275	O14529	CUX2_HUMAN	S	275	ENSP00000261726:R275S	ENSP00000261726:R275S	R	+	1	0	CUX2	110226466	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.274000	0.33132	2.386000	0.81285	0.467000	0.42956	CGC		0.642	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		8	21	1	0	7.48243e-07	0.000442599	4.2912e-06	8	21				
DNAH10	196385	broad.mit.edu	37	12	124274575	124274575	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:124274575C>T	ENST00000409039.3	+	11	1564	c.1539C>T	c.(1537-1539)gtC>gtT	p.V513V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	513	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACGGCCTAGTCACCCCCATGG	0.468																																							uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1537-1539)GTC>GTT		dynein, axonemal, heavy chain 10							215.0	195.0	202.0					12																	124274575		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124274575C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1539C>T	12.37:g.124274575C>T						DNAH10_uc010tav.1_5'UTR|DNAH10_uc010taw.1_5'UTR	p.V513V	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	11	1564	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		513			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.1539C>T	CCDS9255.2																																																																																				0.468	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			19	152	0	0	0	0.00188189	0	19	152				
MYO16	23026	broad.mit.edu	37	13	109540774	109540774	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr13:109540774C>T	ENST00000357550.2	+	13	1583	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	MYO16_ENST00000457511.2_Silent_p.L26L|MYO16_ENST00000356711.2_Silent_p.L514L|MYO16_ENST00000251041.5_Silent_p.L514L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TAAGACACCTCACCTGCAGGG	0.443																																							uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(1540-1542)CTC>CTT		myosin heavy chain Myr 8							79.0	85.0	83.0					13																	109540774		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109540774C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1542C>T	13.37:g.109540774C>T						MYO16_uc010agk.1_Silent_p.L536L|MYO16_uc001vqu.1_Silent_p.L314L|MYO16_uc010tjh.1_Silent_p.L26L	p.L514L	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		14	1668	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		514			Myosin head-like 1.			Silent	SNP	ENST00000357550.2	37	c.1542C>T	CCDS32008.1																																																																																				0.443	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		7	70	0	0	0	0.000442599	0	7	70				
AKAP6	9472	broad.mit.edu	37	14	33014499	33014499	+	Missense_Mutation	SNP	A	A	G	rs201721425		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr14:33014499A>G	ENST00000280979.4	+	4	810	c.640A>G	c.(640-642)Aat>Gat	p.N214D	AKAP6_ENST00000557272.1_Missense_Mutation_p.N214D|AKAP6_ENST00000557354.1_Missense_Mutation_p.N214D	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	214					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATGTTCTCAAAATTACTTGTC	0.438																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(640-642)AAT>GAT		A-kinase anchor protein 6							156.0	147.0	150.0					14																	33014499		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33014499A>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.640A>G	14.37:g.33014499A>G	ENSP00000280979:p.Asn214Asp					AKAP6_uc010aml.2_Missense_Mutation_p.N211D	p.N214D	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	810	+	Breast(36;0.0388)|Prostate(35;0.15)		214					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.640A>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.540746	0.27563	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.16073	3.62;2.37;2.38	6.08	4.91	0.64330	.	0.119667	0.64402	N	0.000018	T	0.11879	0.0289	N	0.25380	0.74	0.40674	D	0.982243	B;B	0.19935	0.004;0.04	B;B	0.14023	0.002;0.01	T	0.11567	-1.0582	10	0.31617	T	0.26	-16.0487	9.5831	0.39499	0.8643:0.0:0.1357:0.0	.	214;214	A7E242;Q13023	.;AKAP6_HUMAN	D	214	ENSP00000280979:N214D;ENSP00000450531:N214D;ENSP00000451247:N214D	ENSP00000280979:N214D	N	+	1	0	AKAP6	32084250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.529000	0.53532	1.079000	0.41038	0.533000	0.62120	AAT		0.438	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		13	168	0	0	0	0.00136819	0	13	168				
PPM1A	5494	broad.mit.edu	37	14	60749757	60749757	+	Missense_Mutation	SNP	G	G	A	rs143557303		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr14:60749757G>A	ENST00000395076.4	+	2	766	c.336G>A	c.(334-336)atG>atA	p.M112I	PPM1A_ENST00000325658.3_Missense_Mutation_p.M112I|PPM1A_ENST00000325642.3_Missense_Mutation_p.M185I|PPM1A_ENST00000529574.1_Missense_Mutation_p.M112I	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	112					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		ATGAACACATGAGAGTTATGT	0.403																																							uc010apn.2		NA																	0				skin(1)	1						c.(334-336)ATG>ATA		protein phosphatase 1A isoform 1		G	ILE/MET,ILE/MET,ILE/MET	1,4405	2.1+/-5.4	0,1,2202	114.0	111.0	112.0		555,336,336	5.8	1.0	14	dbSNP_134	112	0,8600		0,0,4300	no	missense,missense,missense	PPM1A	NM_177952.2,NM_177951.2,NM_021003.4	10,10,10	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	185/456,112/325,112/383	60749757	1,13005	2203	4300	6503	SO:0001583	missense	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60749757G>A	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.336G>A	14.37:g.60749757G>A	ENSP00000378514:p.Met112Ile					PPM1A_uc001xew.3_Missense_Mutation_p.M185I|PPM1A_uc001xex.3_Missense_Mutation_p.M112I|PPM1A_uc001xey.3_Missense_Mutation_p.M112I	p.M112I	NM_021003	NP_066283	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	3	738	+			112					B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	c.336G>A	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858187	0.71834	2.27E-4	0.0	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658;ENST00000528241;ENST00000525399;ENST00000531937	T;T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32;3.32	5.75	5.75	0.90469	Protein phosphatase 2C-like (5);	0.033654	0.85682	D	0.000000	T	0.07413	0.0187	L	0.31120	0.905	0.80722	D	1	B;B;B	0.27380	0.177;0.013;0.083	B;B;B	0.28305	0.088;0.053;0.088	T	0.43637	-0.9379	9	.	.	.	-4.3181	19.9233	0.97095	0.0:0.0:1.0:0.0	.	112;112;112	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	I	185;112;112;112;112;112;112	ENSP00000327255:M185I;ENSP00000432966:M112I;ENSP00000378514:M112I;ENSP00000314850:M112I;ENSP00000431453:M112I;ENSP00000435398:M112I;ENSP00000435575:M112I	.	M	+	3	0	PPM1A	59819510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.010000	0.88615	2.704000	0.92352	0.591000	0.81541	ATG		0.403	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		11	56	0	0	0	0.000978159	0	11	56				
SYNE2	23224	broad.mit.edu	37	14	64469512	64469512	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr14:64469512G>A	ENST00000344113.4	+	30	4073	c.3861G>A	c.(3859-3861)aaG>aaA	p.K1287K	SYNE2_ENST00000554584.1_Silent_p.K1287K|SYNE2_ENST00000358025.3_Silent_p.K1287K|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1287					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGTATTAAAGGAGTTACACC	0.343																																							uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(3859-3861)AAG>AAA		spectrin repeat containing, nuclear envelope 2							87.0	84.0	85.0					14																	64469512		1835	4082	5917	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64469512G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3861G>A	14.37:g.64469512G>A						SYNE2_uc001xgl.2_Silent_p.K1287K	p.K1287K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	30	4091	+			1287			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.3861G>A	CCDS41963.1																																																																																				0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	63	0	0	0	0.000274275	0	8	63				
SNW1	22938	broad.mit.edu	37	14	78189587	78189587	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr14:78189587C>A	ENST00000261531.7	-	11	1129	c.1067G>T	c.(1066-1068)cGg>cTg	p.R356L	SNW1_ENST00000555761.1_Missense_Mutation_p.R356L|SNW1_ENST00000554775.1_Missense_Mutation_p.R194L|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	356					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCTGTCATGCCGGATTTCATC	0.458																																							uc001xuf.2		NA																	0				ovary(1)	1						c.(1066-1068)CGG>CTG		SKI-interacting protein							158.0	124.0	135.0					14																	78189587		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78189587C>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1067G>T	14.37:g.78189587C>A	ENSP00000261531:p.Arg356Leu					SNW1_uc010tvm.1_Missense_Mutation_p.R281L|SNW1_uc010asu.2_Missense_Mutation_p.R194L|SNW1_uc010tvn.1_Missense_Mutation_p.R356L	p.R356L	NM_012245	NP_036377	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	11	1094	-			356					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.1067G>T	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416279	0.96092	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.97110	1.0;0.972	D	0.89927	0.4063	9	0.72032	D	0.01	.	19.5893	0.95501	0.0:1.0:0.0:0.0	.	356;356	G3V3A4;Q13573	.;SNW1_HUMAN	L	356;194;356	.	ENSP00000261531:R356L	R	-	2	0	SNW1	77259340	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.559000	0.82265	2.631000	0.89168	0.460000	0.39030	CGG		0.458	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		32	88	1	0	8.73648e-17	0.000814825	5.66394e-16	32	88				
AHNAK2	113146	broad.mit.edu	37	14	105418167	105418167	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr14:105418167C>G	ENST00000333244.5	-	7	3740	c.3621G>C	c.(3619-3621)aaG>aaC	p.K1207N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1207						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTCAGTGGTCTTGAGGTCCC	0.662																																							uc010axc.1		NA																	0				ovary(1)	1						c.(3619-3621)AAG>AAC		AHNAK nucleoprotein 2							111.0	87.0	95.0					14																	105418167		1936	3962	5898	SO:0001583	missense	113146					nucleus		g.chr14:105418167C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3621G>C	14.37:g.105418167C>G	ENSP00000353114:p.Lys1207Asn					AHNAK2_uc001ypx.2_Missense_Mutation_p.K1107N	p.K1207N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3741	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1207					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3621G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	14.43	2.533613	0.45073	.	.	ENSG00000185567	ENST00000333244	T	0.02280	4.36	4.46	2.58	0.30949	.	.	.	.	.	T	0.09468	0.0233	M	0.77820	2.39	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.16867	-1.0388	9	0.39692	T	0.17	.	6.1066	0.20077	0.0:0.6752:0.1548:0.17	.	1207	Q8IVF2	AHNK2_HUMAN	N	1207	ENSP00000353114:K1207N	ENSP00000353114:K1207N	K	-	3	2	AHNAK2	104489212	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.530000	0.06179	0.320000	0.23234	-0.320000	0.08662	AAG		0.662	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		20	161	0	0	0	0.000295444	0	20	161				
UBE3A	7337	broad.mit.edu	37	15	25599501	25599501	+	Splice_Site	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr15:25599501T>A	ENST00000397954.2	-	9	2361	c.2362A>T	c.(2362-2364)Agg>Tgg	p.R788W	UBE3A_ENST00000428984.2_Splice_Site_p.R765W|UBE3A_ENST00000232165.3_Splice_Site_p.R785W|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Splice_Site_p.R765W|UBE3A_ENST00000566215.1_Splice_Site_p.R765W			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	788	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTACCTCACCTAATCAGAACA	0.383																																							uc001zaq.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(2362-2364)AGG>TGG		ubiquitin protein ligase E3A isoform 2							136.0	110.0	119.0					15																	25599501		2203	4300	6503	SO:0001630	splice_region_variant	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25599501T>A	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2363+1A>T	15.37:g.25599501T>A						uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.R765W|UBE3A_uc001zas.2_Missense_Mutation_p.R785W|UBE3A_uc001zat.2_Missense_Mutation_p.R765W	p.R788W	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	9	2362	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	788			HECT.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.2362A>T	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651833	0.88056	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.56	5.56	0.83823	HECT (4);	0.091594	0.85682	D	0.000000	T	0.79329	0.4427	M	0.91459	3.21	0.58432	D	0.999999	D;D	0.63880	0.975;0.993	P;P	0.61722	0.573;0.893	D	0.84666	0.0709	10	0.87932	D	0	.	15.6991	0.77528	0.0:0.0:0.0:1.0	.	785;788	Q05086-3;Q05086	.;UBE3A_HUMAN	W	785;785;788;765;765	ENSP00000232165:R785W;ENSP00000381045:R788W;ENSP00000411258:R765W;ENSP00000401265:R765W	ENSP00000232165:R785W	R	-	1	2	UBE3A	23150594	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	8.008000	0.88588	2.108000	0.64289	0.482000	0.46254	AGG		0.383	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	Missense_Mutation	5	29	0	0	0	0.00116845	0	5	29				
SPRED1	161742	broad.mit.edu	37	15	38643583	38643583	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr15:38643583A>C	ENST00000299084.4	+	7	1913	c.1053A>C	c.(1051-1053)aaA>aaC	p.K351N		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	351	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTAGGGGAAAATGTCAGGATG	0.393									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	Melanoma(196;2146 2959 7698 16532)	uc001zka.3		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(1051-1053)AAA>AAC		sprouty-related protein 1 with EVH-1 domain							144.0	142.0	143.0					15																	38643583		2200	4297	6497	SO:0001583	missense	161742	Legius_syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38643583A>C	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.1053A>C	15.37:g.38643583A>C	ENSP00000299084:p.Lys351Asn						p.K351N	NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	7	1388	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	351			SPR.		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.1053A>C	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313994	0.60414	.	.	ENSG00000166068	ENST00000299084	T	0.64085	-0.08	6.02	-7.43	0.01383	.	0.164825	0.64402	D	0.000015	T	0.37892	0.1020	N	0.08118	0	0.43545	D	0.99584	P	0.43938	0.822	P	0.46172	0.506	T	0.52510	-0.8566	10	0.40728	T	0.16	-4.2963	10.5774	0.45235	0.3277:0.1899:0.4824:0.0	.	351	Q7Z699	SPRE1_HUMAN	N	351	ENSP00000299084:K351N	ENSP00000299084:K351N	K	+	3	2	SPRED1	36430875	1.000000	0.71417	0.820000	0.32676	0.997000	0.91878	1.437000	0.34991	-0.949000	0.03663	0.462000	0.41574	AAA		0.393	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			8	80	0	0	0	0.000274275	0	8	80				
LCMT2	9836	broad.mit.edu	37	15	43621554	43621554	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr15:43621554C>A	ENST00000305641.5	-	1	1249	c.1134G>T	c.(1132-1134)gaG>gaT	p.E378D	LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	378					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCCCCTCCTGCTCTCCAAATC	0.542																																							uc001zrg.2		NA																	0					0						c.(1132-1134)GAG>GAT		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						60.0	60.0	60.0					15																	43621554		2201	4299	6500	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621554C>A	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1134G>T	15.37:g.43621554C>A	ENSP00000307214:p.Glu378Asp					LCMT2_uc010udn.1_5'UTR|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	p.E378D	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1338	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	378					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.1134G>T	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831601	0.32329	.	.	ENSG00000168806	ENST00000305641	T	0.73575	-0.76	5.54	-1.31	0.09230	.	0.226239	0.36482	N	0.002579	T	0.61400	0.2344	M	0.67953	2.075	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41197	-0.9522	10	0.13108	T	0.6	-18.1214	4.7279	0.12950	0.1488:0.3497:0.0:0.5016	.	378	O60294	LCMT2_HUMAN	D	378	ENSP00000307214:E378D	ENSP00000307214:E378D	E	-	3	2	LCMT2	41408846	0.866000	0.29940	0.990000	0.47175	0.956000	0.61745	-0.241000	0.08940	-0.116000	0.11893	-0.152000	0.13540	GAG		0.542	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		19	40	1	0	6.94344e-10	0.00074312	4.35425e-09	19	40				
FAM63B	54629	broad.mit.edu	37	15	59144100	59144100	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr15:59144100C>G	ENST00000559228.1	+	8	1755	c.1673C>G	c.(1672-1674)tCt>tGt	p.S558C	FAM63B_ENST00000450403.2_Missense_Mutation_p.S558C			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	558	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGACGGGCTTCTCAATACTAT	0.453																																							uc002afj.2		NA																	0				central_nervous_system(1)	1						c.(1672-1674)TCT>TGT		hypothetical protein LOC54629 isoform a							89.0	87.0	88.0					15																	59144100		1835	4080	5915	SO:0001583	missense	54629							g.chr15:59144100C>G	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1673C>G	15.37:g.59144100C>G	ENSP00000452885:p.Ser558Cys					FAM63B_uc002afi.2_Missense_Mutation_p.S558C|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	p.S558C	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN			8	1875	+			558			Gln-rich.		B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.1673C>G	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331540	0.95733	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.49139	0.79	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	L	0.47716	1.5	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.73380	0.956;0.98	T	0.63314	-0.6665	10	0.66056	D	0.02	0.7675	20.8598	0.99761	0.0:1.0:0.0:0.0	.	558;558	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	C	558	ENSP00000393231:S558C	ENSP00000326194:S558C	S	+	2	0	FAM63B	56931392	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.448000	0.80631	2.937000	0.99478	0.650000	0.86243	TCT		0.453	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		11	54	0	0	0	0.000978159	0	11	54				
LRRC49	54839	broad.mit.edu	37	15	71256259	71256259	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr15:71256259G>T	ENST00000260382.5	+	9	1169	c.909G>T	c.(907-909)atG>atT	p.M303I	LRRC49_ENST00000560691.1_Missense_Mutation_p.M9I|LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000443425.2_Missense_Mutation_p.M259I|LRRC49_ENST00000560369.1_Missense_Mutation_p.M308I|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.M293I	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	303	LRRCT.					cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGCTAGATATGAAGAGAATCA	0.448																																							uc002asw.2		NA																	0				ovary(1)	1						c.(907-909)ATG>ATT		leucine rich repeat containing 49							109.0	95.0	100.0					15																	71256259		2199	4296	6495	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71256259G>T		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.909G>T	15.37:g.71256259G>T	ENSP00000260382:p.Met303Ile					LRRC49_uc002asu.2_Missense_Mutation_p.M293I|LRRC49_uc002asx.2_Missense_Mutation_p.M259I|LRRC49_uc010ukf.1_Missense_Mutation_p.M308I|LRRC49_uc002asy.2_Missense_Mutation_p.M9I|LRRC49_uc002asz.2_Missense_Mutation_p.M275I	p.M303I	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN			9	1156	+			303			Potential.|LRRCT.		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.909G>T	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201722	0.58234	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.52983	0.64;2.01;2.01	5.35	3.47	0.39725	.	0.049151	0.85682	D	0.000000	T	0.35038	0.0918	L	0.32530	0.975	0.50632	D	0.999889	B;P;P;B;P	0.39862	0.411;0.692;0.552;0.276;0.682	B;B;B;B;B	0.39840	0.118;0.311;0.142;0.15;0.117	T	0.04386	-1.0955	10	0.23891	T	0.37	-11.9465	10.0333	0.42114	0.1661:0.0:0.8339:0.0	.	308;275;259;303;293	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	I	293;303;259;275	ENSP00000439600:M293I;ENSP00000260382:M303I;ENSP00000414065:M259I	ENSP00000260382:M303I	M	+	3	0	LRRC49	69043313	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	6.065000	0.71176	0.752000	0.32923	0.563000	0.77884	ATG		0.448	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		8	63	1	0	5.18039e-06	0.000157383	2.9458e-05	8	63				
RBFOX1	54715	broad.mit.edu	37	16	7645644	7645645	+	Splice_Site	DNP	GT	GT	TC			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:7645644_7645645GT>TC	ENST00000550418.1	+	8	1549		c.e8+1		RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000340209.4_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TAAAATCGAGGTGCATGTTCAA	0.446																																					Ovarian(157;934 2567 15163 39509)		uc002cys.2		NA																	0					0						c.e8+1		ataxin 2-binding protein 1 isoform 4																																				SO:0001630	splice_region_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7645644_7645645GT>TC	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	Exception_encountered	16.37:g.7645644_7645645delinsTC						A2BP1_uc010buf.1_Splice_Site_p.E187_splice|A2BP1_uc002cyr.1_Splice_Site_p.E186_splice|A2BP1_uc002cyt.2_Splice_Site_p.E187_splice|A2BP1_uc010uxz.1_Splice_Site_p.E230_splice|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Splice_Site_p.E187_splice|A2BP1_uc010uyb.1_Splice_Site_p.E187_splice|A2BP1_uc002cyw.2_Splice_Site_p.E207_splice|A2BP1_uc002cyy.2_Splice_Site_p.E207_splice|A2BP1_uc002cyx.2_Splice_Site_p.E207_splice|A2BP1_uc010uyc.1_Splice_Site_p.E207_splice	p.E187_splice	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	8	1549	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)						Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Splice_Site	DNP	ENST00000550418.1	37	c.561_splice	CCDS55983.1																																																																																				0.446	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	Intron	7	106	0	0	0	6.4e-05	0	7	106				
ACSM2A	123876	broad.mit.edu	37	16	20494500	20494500	+	Splice_Site	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:20494500G>T	ENST00000573854.1	+	13	1743		c.e13+1		ACSM2A_ENST00000219054.6_Splice_Site|ACSM2A_ENST00000575690.1_Splice_Site|ACSM2A_ENST00000417235.2_Splice_Site|ACSM2A_ENST00000396104.2_Splice_Site|ACSM2A_ENST00000536134.1_Splice_Site	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A						fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCCAAGAAAGGTAAGGCCTTT	0.463																																							uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.e14+1		acyl-CoA synthetase medium-chain family member							122.0	114.0	117.0					16																	20494500		2202	4280	6482	SO:0001630	splice_region_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20494500G>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1629+1G>T	16.37:g.20494500G>T						ACSM2A_uc002dhf.3_Splice_Site_p.K543_splice|ACSM2A_uc002dhg.3_Splice_Site_p.K543_splice|ACSM2A_uc010vay.1_Splice_Site_p.K464_splice|ACSM2A_uc002dhh.3_Splice_Site_p.K173_splice	p.K543_splice	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			14	1868	+								B3KTT9|O75202	Splice_Site	SNP	ENST00000573854.1	37	c.1629_splice	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893880	0.52121	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.417	0.67158	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSM2A	20402001	1.000000	0.71417	0.994000	0.49952	0.857000	0.48899	6.075000	0.71261	1.507000	0.48752	0.305000	0.20034	.		0.463	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	Intron	21	116	1	0	2.98393e-07	0.000375601	1.73352e-06	21	116				
ITGAL	3683	broad.mit.edu	37	16	30490755	30490755	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:30490755G>A	ENST00000356798.6	+	6	729	c.549G>A	c.(547-549)atG>atA	p.M183I	ITGAL_ENST00000454514.2_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron|RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	183	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AGGATGTGATGAAGAAACTCA	0.408																																					NSCLC(110;1462 1641 3311 33990 49495)	NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(547-549)ATG>ATA		integrin alpha L isoform a precursor	Efalizumab(DB00095)						82.0	74.0	77.0					16																	30490755		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30490755G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.549G>A	16.37:g.30490755G>A	ENSP00000349252:p.Met183Ile					ITGAL_uc010veu.1_Intron|ITGAL_uc002dyj.3_Intron|ITGAL_uc010vev.1_Intron	p.M183I	NM_002209	NP_002200	P20701	ITAL_HUMAN			6	725	+			183			VWFA.|Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.549G>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422702	0.83559	.	.	ENSG00000005844	ENST00000356798	T	0.80033	-1.33	5.85	4.9	0.64082	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000003	D	0.82829	0.5122	L	0.39898	1.24	0.80722	D	1	P	0.49090	0.919	P	0.59825	0.864	T	0.82862	-0.0247	10	0.48119	T	0.1	.	12.1823	0.54218	0.08:0.0:0.92:0.0	.	183	P20701	ITAL_HUMAN	I	183	ENSP00000349252:M183I	ENSP00000349252:M183I	M	+	3	0	ITGAL	30398256	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.713000	0.61895	1.489000	0.48450	0.411000	0.27672	ATG		0.408	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			5	36	0	0	0	0.00116845	0	5	36				
ARMC5	79798	broad.mit.edu	37	16	31477721	31477721	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:31477721C>G	ENST00000563544.1	+	7	2865	c.2319C>G	c.(2317-2319)ttC>ttG	p.F773L	ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Missense_Mutation_p.F417L|ARMC5_ENST00000408912.3_Missense_Mutation_p.F868L|ARMC5_ENST00000268314.4_Missense_Mutation_p.F773L|ARMC5_ENST00000538189.1_Missense_Mutation_p.F805L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	773	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCTCCCCTTTCTTCCGGGCCC	0.677																																							uc002ecc.2		NA																	0				pancreas(1)	1						c.(2317-2319)TTC>TTG		armadillo repeat containing 5 isoform a							24.0	27.0	26.0					16																	31477721		2001	4165	6166	SO:0001583	missense	79798						binding	g.chr16:31477721C>G	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2319C>G	16.37:g.31477721C>G	ENSP00000456877:p.Phe773Leu					ARMC5_uc010vfn.1_Missense_Mutation_p.F868L|ARMC5_uc010vfo.1_Missense_Mutation_p.F805L|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Missense_Mutation_p.F581L|ARMC5_uc002ecb.2_3'UTR	p.F773L	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			6	2848	+			773			BTB.		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.2319C>G	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	c	18.79	3.698233	0.68386	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.64	3.66	0.41972	BTB/POZ-like (1);BTB/POZ fold (1);	0.142767	0.48767	D	0.000164	T	0.57562	0.2062	L	0.49126	1.545	0.29944	N	0.82083	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.11329	0.006;0.004;0.006;0.004	T	0.47169	-0.9138	10	0.12103	T	0.63	-24.3686	6.7429	0.23447	0.0:0.6943:0.1445:0.1613	.	805;805;868;773	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	L	868;805;773;417	ENSP00000386125:F868L;ENSP00000443995:F805L;ENSP00000268314:F773L;ENSP00000400183:F417L	ENSP00000268314:F773L	F	+	3	2	ARMC5	31385222	0.126000	0.22350	1.000000	0.80357	0.966000	0.64601	0.395000	0.20850	1.373000	0.46208	0.546000	0.68486	TTC		0.677	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		3	19	0	0	0	6.4e-05	0	3	19				
ZNF423	23090	broad.mit.edu	37	16	49671869	49671869	+	Silent	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:49671869C>A	ENST00000561648.1	-	4	1247	c.1194G>T	c.(1192-1194)cgG>cgT	p.R398R	ZNF423_ENST00000262383.2_Silent_p.R398R|ZNF423_ENST00000562871.1_Silent_p.R338R|ZNF423_ENST00000562520.1_Silent_p.R338R|ZNF423_ENST00000563137.2_Silent_p.R338R|ZNF423_ENST00000567169.1_Silent_p.R281R|ZNF423_ENST00000535559.1_Silent_p.R281R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	398					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCCCGTCATCCCGCATCTTCT	0.632																																							uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(1192-1194)CGG>CGT		zinc finger protein 423							46.0	41.0	43.0					16																	49671869		2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671869C>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1194G>T	16.37:g.49671869C>A						ZNF423_uc010vgn.1_Silent_p.R281R	p.R398R	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	1492	-		all_cancers(37;0.0155)	398					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.1194G>T	CCDS32445.1																																																																																				0.632	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		7	42	1	0	8.12818e-05	8.12818e-05	0.00044889	7	42				
CIAPIN1	57019	broad.mit.edu	37	16	57473209	57473209	+	Splice_Site	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:57473209T>A	ENST00000567518.1	-	3	290		c.e3-2		CIAPIN1_ENST00000565961.1_Silent_p.S65S|CIAPIN1_ENST00000394391.4_Silent_p.S65S|CIAPIN1_ENST00000568940.1_Silent_p.S65S|CIAPIN1_ENST00000569979.1_Silent_p.S65S|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000569370.1_Silent_p.S65S					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GGACTAAACCTGACAAAATAA	0.493																																							uc002ell.1		NA																	0					0						c.(193-195)TCA>TCT		cytokine induced apoptosis inhibitor 1							141.0	140.0	140.0					16																	57473209		1891	4117	6008	SO:0001630	splice_region_variant	57019				anti-apoptosis|apoptosis	cytoplasm|nucleolus		g.chr16:57473209T>A	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000567518.1:c.158-2A>T	16.37:g.57473209T>A						CIAPIN1_uc002elk.1_RNA|CIAPIN1_uc002elm.1_Splice_Site_p.C53_splice|CIAPIN1_uc002eln.1_Silent_p.S65S|CIAPIN1_uc010cda.1_Silent_p.S65S|CIAPIN1_uc002elo.1_Silent_p.S65S|CIAPIN1_uc010vhm.1_Silent_p.S65S	p.S65S	NM_020313	NP_064709	Q6FI81	CPIN1_HUMAN			3	366	-			65						Silent	SNP	ENST00000567518.1	37	c.195A>T																																																																																					0.493	CIAPIN1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000431013.2	NM_020313	Intron	54	120	0	0	0	0.000781405	0	54	120				
GGT6	124975	broad.mit.edu	37	17	4463036	4463036	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:4463036G>A	ENST00000574154.1	-	2	456	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	GGT6_ENST00000301395.3_Missense_Mutation_p.P54S|GGT6_ENST00000381550.3_Missense_Mutation_p.P54S|GGT6_ENST00000573591.1_5'UTR			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	54					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAGGTTCCGGGCAGCCCGCCA	0.657																																							uc002fyd.3		NA																	0				skin(1)	1						c.(160-162)CCC>TCC		gamma-glutamyltransferase 6 isoform a							19.0	22.0	21.0					17																	4463036		2180	4255	6435	SO:0001583	missense	124975				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr17:4463036G>A	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"""Gamma-glutamyltransferases"""	26891	protein-coding gene	gene with protein product		612341	"""gamma-glutamyltransferase 6 homolog (rat)"""			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.160C>T	17.37:g.4463036G>A	ENSP00000458307:p.Pro54Ser					GGT6_uc010vsb.1_5'UTR|GGT6_uc002fyc.3_Missense_Mutation_p.P54S|GGT6_uc010vsc.1_Missense_Mutation_p.P54S	p.P54S	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN			2	220	-			54			Cytoplasmic (Potential).		B4DUH4|Q8NCM0	Missense_Mutation	SNP	ENST00000574154.1	37	c.160C>T	CCDS45582.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065711	0.55539	.	.	ENSG00000167741	ENST00000381550;ENST00000301395	T;T	0.23950	2.54;1.88	5.32	2.03	0.26663	.	0.748436	0.12304	N	0.480893	T	0.42449	0.1203	M	0.68317	2.08	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.994;0.998	T	0.16129	-1.0413	10	0.59425	D	0.04	-14.5614	3.6899	0.08341	0.0904:0.1663:0.5715:0.1719	.	54;54;54	B4DKN3;Q6P531;Q6P531-2	.;GGT6_HUMAN;.	S	54	ENSP00000370962:P54S;ENSP00000301395:P54S	ENSP00000301395:P54S	P	-	1	0	GGT6	4409785	0.045000	0.20229	0.001000	0.08648	0.131000	0.20780	1.748000	0.38308	0.750000	0.32877	-0.152000	0.13540	CCC		0.657	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439122.1	NM_153338		7	17	0	0	0	8.12818e-05	0	7	17				
MYH2	4620	broad.mit.edu	37	17	10429036	10429036	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:10429036C>T	ENST00000245503.5	-	31	4729	c.4345G>A	c.(4345-4347)Gac>Aac	p.D1449N	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.D1449N|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1449					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTTTTTGTCAAGGGCGGCA	0.483																																							uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4345-4347)GAC>AAC		myosin heavy chain IIa							104.0	96.0	99.0					17																	10429036		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10429036C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4345G>A	17.37:g.10429036C>T	ENSP00000245503:p.Asp1449Asn					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.D1449N|MYH2_uc010coj.2_Intron	p.D1449N	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			31	4473	-			1449			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4345G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981137	0.93044	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83163	-1.69;-1.69	4.9	4.9	0.64082	Myosin tail (1);	0.000000	0.41097	U	0.000956	D	0.92971	0.7763	M	0.93898	3.47	0.58432	D	0.999998	P	0.50066	0.931	P	0.62089	0.898	D	0.94338	0.7568	10	0.62326	D	0.03	.	18.2698	0.90064	0.0:1.0:0.0:0.0	.	1449	Q9UKX2	MYH2_HUMAN	N	1449	ENSP00000245503:D1449N;ENSP00000380367:D1449N	ENSP00000245503:D1449N	D	-	1	0	MYH2	10369761	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.569000	0.82380	2.558000	0.86282	0.313000	0.20887	GAC		0.483	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		13	77	0	0	0	0.000219431	0	13	77				
DNAH9	1770	broad.mit.edu	37	17	11631181	11631181	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:11631181G>T	ENST00000262442.4	+	28	5824	c.5756G>T	c.(5755-5757)gGc>gTc	p.G1919V	DNAH9_ENST00000454412.2_Missense_Mutation_p.G1919V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1919	AAA 1. {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)		GGTGCCTGGGGCTGCTTTGAT	0.483																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(5755-5757)GGC>GTC		dynein, axonemal, heavy chain 9 isoform 2							144.0	128.0	134.0					17																	11631181		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.chr17:11631181G>T	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.5756G>T	17.37:g.11631181G>T	ENSP00000262442:p.Gly1919Val					DNAH9_uc010coo.2_Missense_Mutation_p.G1213V	p.G1919V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	28	5824	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1919			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.5756G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693367	0.88735	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.35236	1.32;1.32	4.77	4.77	0.60923	ATPase, AAA+ type, core (1);	0.308172	0.31210	N	0.008049	T	0.66636	0.2809	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74432	-0.3667	10	0.87932	D	0	.	18.1256	0.89584	0.0:0.0:1.0:0.0	.	1919	Q9NYC9	DYH9_HUMAN	V	1919;1919;501	ENSP00000262442:G1919V;ENSP00000414874:G1919V	ENSP00000262442:G1919V	G	+	2	0	DNAH9	11571906	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.784000	0.99039	2.365000	0.80145	0.585000	0.79938	GGC		0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		8	42	1	0	1.33987e-11	0.000673444	8.48163e-11	8	42				
SLC47A1	55244	broad.mit.edu	37	17	19470429	19470429	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:19470429G>A	ENST00000270570.4	+	14	1283	c.1197G>A	c.(1195-1197)ctG>ctA	p.L399L	SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Silent_p.L204L|SLC47A1_ENST00000395585.1_Silent_p.L399L|SLC47A1_ENST00000436810.2_Silent_p.L376L|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Silent_p.L399L	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	399					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GTGGTGTTCTGAGGGGGAGTG	0.532																																							uc002gvy.1		NA																	0					0						c.(1195-1197)CTG>CTA		solute carrier family 47, member 1							311.0	253.0	272.0					17																	19470429		2203	4300	6503	SO:0001819	synonymous_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19470429G>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1197G>A	17.37:g.19470429G>A						SLC47A1_uc002gvx.2_Silent_p.L399L|SLC47A1_uc010vyz.1_Silent_p.L376L|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Silent_p.L204L|SLC47A1_uc010vza.1_Silent_p.L111L|SLC47A1_uc010vzb.1_Silent_p.L133L|SLC47A1_uc010vzc.1_Silent_p.L71L	p.L399L	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN			14	1283	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		399			Cytoplasmic (Potential).		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	ENST00000270570.4	37	c.1197G>A	CCDS11209.1																																																																																				0.532	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		25	169	0	0	0	0.000586117	0	25	169				
MAP2K3	5606	broad.mit.edu	37	17	21206516	21206516	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:21206516C>G	ENST00000342679.4	+	7	787	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	MAP2K3_ENST00000316920.6_Missense_Mutation_p.L151V|MAP2K3_ENST00000361818.5_Missense_Mutation_p.L151V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCTGGAGCATCTGCACAGCAA	0.627																																							uc002gys.2		NA																	0					0						c.(538-540)CTG>GTG		mitogen-activated protein kinase kinase 3							51.0	43.0	46.0					17																	21206516		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21206516C>G	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.538C>G	17.37:g.21206516C>G	ENSP00000345083:p.Leu180Val					MAP2K3_uc002gyt.2_Missense_Mutation_p.L151V|MAP2K3_uc002gyu.2_Missense_Mutation_p.L151V	p.L180V	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	7	803	+			180			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.538C>G	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724105	0.30593	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.60548	0.18;0.18	5.45	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000075	T	0.77994	0.4214	M	0.89785	3.06	0.58432	D	0.999993	D	0.69078	0.997	D	0.91635	0.999	T	0.81466	-0.0920	10	0.87932	D	0	-27.4191	10.5736	0.45214	0.0:0.8367:0.0:0.1633	.	180	P46734	MP2K3_HUMAN	V	180;151;151;184	ENSP00000345083:L180V;ENSP00000355081:L151V	ENSP00000319139:L184V	L	+	1	2	MAP2K3	21147109	0.998000	0.40836	1.000000	0.80357	0.909000	0.53808	2.335000	0.43929	2.569000	0.86673	0.561000	0.74099	CTG		0.627	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		3	18	0	0	0	0.000602214	0	3	18				
GGNBP2	79893	broad.mit.edu	37	17	34923616	34923616	+	Splice_Site	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:34923616G>A	ENST00000304718.4	+	6	957		c.e6+1			NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAAAACACAGGTAAGTCTGAT	0.408																																							uc002hnb.2		NA																	0				ovary(2)	2						c.e6+1		zinc finger protein 403							108.0	99.0	102.0					17																	34923616		2203	4300	6503	SO:0001630	splice_region_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34923616G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.641+1G>A	17.37:g.34923616G>A						GGNBP2_uc002hna.2_Splice_Site_p.R214_splice	p.R214_splice	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	6	890	+		Breast(25;0.00957)|Ovarian(249;0.17)						B2RPK7|Q96T90|Q9GZR8|Q9H767	Splice_Site	SNP	ENST00000304718.4	37	c.641_splice	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054424	0.75960	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4017	0.94632	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GGNBP2	31997729	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.092000	0.94157	2.577000	0.86979	0.558000	0.71614	.		0.408	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835	Intron	5	23	0	0	0	0.000602214	0	5	23				
OR4D2	124538	broad.mit.edu	37	17	56247649	56247649	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:56247649C>G	ENST00000545221.1	+	1	633	c.633C>G	c.(631-633)ttC>ttG	p.F211L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCGTCTGGTTCTTCCTCCTCC	0.537																																							uc010wnp.1		NA																	0				ovary(1)|breast(1)	2						c.(631-633)TTC>TTG		olfactory receptor, family 4, subfamily D,							175.0	129.0	145.0					17																	56247649		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247649C>G		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.633C>G	17.37:g.56247649C>G	ENSP00000441354:p.Phe211Leu						p.F211L	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	633	+			211			Helical; Name=5; (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.633C>G	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032162	0.35893	.	.	ENSG00000255713	ENST00000545221	T	0.32988	1.43	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.48874	0.1524	L	0.55743	1.74	0.35403	D	0.791767	D	0.76494	0.999	D	0.91635	0.999	T	0.58994	-0.7537	10	0.72032	D	0.01	-53.2354	11.0572	0.47925	0.0:0.9155:0.0:0.0845	.	211	P58180	OR4D2_HUMAN	L	211	ENSP00000441354:F211L	ENSP00000441354:F211L	F	+	3	2	OR4D2	53602648	0.017000	0.18338	0.970000	0.41538	0.006000	0.05464	1.421000	0.34815	2.860000	0.98153	0.609000	0.83330	TTC		0.537	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			26	68	0	0	0	0.00106085	0	26	68				
RGS9	8787	broad.mit.edu	37	17	63186341	63186341	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:63186341G>C	ENST00000262406.9	+	11	800	c.733G>C	c.(733-735)Gtg>Ctg	p.V245L	RGS9_ENST00000449996.3_Missense_Mutation_p.V242L|RGS9_ENST00000443584.3_Missense_Mutation_p.V242L	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	245	G protein gamma.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GAAGTCTTCTGTGTCCCTGGG	0.478																																							uc002jfe.2		NA																	0				ovary(2)|skin(2)	4						c.(733-735)GTG>CTG		regulator of G-protein signaling 9 isoform 1							328.0	322.0	324.0					17																	63186341		1943	4143	6086	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63186341G>C	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.733G>C	17.37:g.63186341G>C	ENSP00000262406:p.Val245Leu					RGS9_uc010dem.2_Missense_Mutation_p.V242L|RGS9_uc002jfd.2_Missense_Mutation_p.V242L|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.V16L	p.V245L	NM_003835	NP_003826	O75916	RGS9_HUMAN			11	843	+			245			G protein gamma.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.733G>C	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705891	0.48412	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T	0.22743	1.94;1.94	5.72	5.72	0.89469	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	M	0.70903	2.155	0.53688	D	0.999974	B;B;B	0.17667	0.015;0.023;0.018	B;B;B	0.27500	0.039;0.08;0.027	T	0.04090	-1.0978	10	0.41790	T	0.15	.	18.7277	0.91720	0.0:0.0:1.0:0.0	.	245;245;242	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	L	245;242;245	ENSP00000262406:V245L;ENSP00000396329:V242L	ENSP00000262406:V245L	V	+	1	0	RGS9	60616803	1.000000	0.71417	0.963000	0.40424	0.913000	0.54294	6.368000	0.73104	2.708000	0.92522	0.650000	0.86243	GTG		0.478	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		121	222	0	0	0	0.000781405	0	121	222				
ASXL3	80816	broad.mit.edu	37	18	31318481	31318481	+	Silent	SNP	G	G	A	rs202108426		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr18:31318481G>A	ENST00000269197.5	+	11	1113	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATCTGTGAAGCTCACTACTG	0.448																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1111-1113)AAG>AAA		additional sex combs like 3							61.0	61.0	61.0					18																	31318481		1910	4125	6035	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31318481G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1113G>A	18.37:g.31318481G>A						ASXL3_uc002kxq.2_Silent_p.K78K	p.K371K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	1168	+			371					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.1113G>A	CCDS45847.1																																																																																				0.448	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			12	26	0	0	0	0.00136819	0	12	26				
RTTN	25914	broad.mit.edu	37	18	67687924	67687924	+	Missense_Mutation	SNP	G	G	A	rs199546509		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr18:67687924G>A	ENST00000255674.6	-	45	6366	c.6080C>T	c.(6079-6081)aCg>aTg	p.T2027M	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2027					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTGCTGAACCGTGGTGTTCTC	0.473																																							uc002lkp.2		NA																	0				ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(6079-6081)ACG>ATG		rotatin							147.0	141.0	143.0					18																	67687924		1949	4156	6105	SO:0001583	missense	25914						binding	g.chr18:67687924G>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6080C>T	18.37:g.67687924G>A	ENSP00000255674:p.Thr2027Met					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.T1115M|RTTN_uc002lkn.2_Missense_Mutation_p.T17M|RTTN_uc010dqp.2_Missense_Mutation_p.T279M	p.T2027M	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			45	6148	-		Esophageal squamous(42;0.129)	2027					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.6080C>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521450	0.44866	.	.	ENSG00000176225	ENST00000255674	T	0.49432	0.78	6.07	3.2	0.36748	Armadillo-like helical (1);Armadillo-type fold (1);	0.688939	0.15019	N	0.285126	T	0.45115	0.1326	L	0.40543	1.245	0.18873	N	0.999984	P	0.51449	0.945	P	0.47015	0.534	T	0.25950	-1.0117	10	0.51188	T	0.08	.	12.1969	0.54303	0.0:0.116:0.6478:0.2362	.	2027	Q86VV8	RTTN_HUMAN	M	2027	ENSP00000255674:T2027M	ENSP00000255674:T2027M	T	-	2	0	RTTN	65838904	0.058000	0.20735	0.000000	0.03702	0.672000	0.39443	1.631000	0.37092	0.389000	0.25086	0.650000	0.86243	ACG		0.473	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		12	111	0	0	0	0.00185496	0	12	111				
MED16	10025	broad.mit.edu	37	19	873486	873486	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:873486T>A	ENST00000589119.1	-	10	1867	c.1868A>T	c.(1867-1869)gAc>gTc	p.D623V	MED16_ENST00000269814.4_Missense_Mutation_p.D623V|MED16_ENST00000325464.1_Missense_Mutation_p.D623V|MED16_ENST00000395808.3_Missense_Mutation_p.D623V|MED16_ENST00000606828.1_5'Flank|MED16_ENST00000312090.6_Missense_Mutation_p.D623V			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	623					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCACGAAGTCGCCCACCCA	0.612																																							uc002lqd.1		NA																	0					0						c.(1867-1869)GAC>GTC		mediator complex subunit 16							113.0	85.0	95.0					19																	873486		2202	4297	6499	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:873486T>A	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1868A>T	19.37:g.873486T>A	ENSP00000464810:p.Asp623Val					MED16_uc010drw.1_Missense_Mutation_p.D448V|MED16_uc002lqe.2_Missense_Mutation_p.D612V|MED16_uc002lqf.2_Missense_Mutation_p.D612V|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Missense_Mutation_p.D543V|MED16_uc010xfx.1_Missense_Mutation_p.D468V|MED16_uc010xfy.1_Missense_Mutation_p.D200V	p.D623V	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	2019	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	623					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.1868A>T	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	t	21.6	4.175335	0.78564	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000424039	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.64830	0.982;0.97;0.993;0.993;0.994	P;P;P;P;D	0.63192	0.802;0.728;0.857;0.857;0.912	T	0.72683	-0.4219	10	0.87932	D	0	-25.971	13.0729	0.59072	0.0:0.0:0.0:1.0	.	623;623;623;623;623	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	V	623	ENSP00000325612:D623V;ENSP00000308528:D623V;ENSP00000379153:D623V;ENSP00000269814:D623V	ENSP00000269814:D623V	D	-	2	0	MED16	824486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.386000	0.79775	1.686000	0.51046	0.454000	0.30748	GAC		0.612	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		19	38	0	0	0	0.00152264	0	19	38				
SBNO2	22904	broad.mit.edu	37	19	1113547	1113547	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:1113547T>A	ENST00000361757.3	-	19	2471	c.2234A>T	c.(2233-2235)cAg>cTg	p.Q745L	SBNO2_ENST00000438103.2_Missense_Mutation_p.Q688L|SBNO2_ENST00000587024.1_Missense_Mutation_p.Q735L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	745					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCACCCGCTGGGGGCCGCC	0.697																																							uc002lrk.3		NA																	0					0						c.(2233-2235)CAG>CTG		strawberry notch homolog 2 isoform 1							12.0	18.0	16.0					19																	1113547		1913	4067	5980	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1113547T>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2234A>T	19.37:g.1113547T>A	ENSP00000354733:p.Gln745Leu					SBNO2_uc002lrj.3_Missense_Mutation_p.Q688L|SBNO2_uc010dse.2_Missense_Mutation_p.Q728L|SBNO2_uc010xgj.1_Intron	p.Q745L	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2472	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	745					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.2234A>T	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502444	0.26949	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.3	3.27	0.37495	.	0.242425	0.40640	N	0.001051	T	0.30230	0.0758	L	0.31926	0.97	0.25744	N	0.985123	B;B	0.33318	0.408;0.355	B;B	0.30943	0.122;0.075	T	0.19418	-1.0306	9	0.66056	D	0.02	-16.2378	10.2851	0.43562	0.0:0.0:0.1663:0.8337	.	745;688	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	L	745;688;752	.	ENSP00000250872:Q752L	Q	-	2	0	SBNO2	1064547	1.000000	0.71417	0.004000	0.12327	0.011000	0.07611	4.565000	0.60836	0.675000	0.31264	-0.488000	0.04728	CAG		0.697	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		5	10	0	0	0	0.00116845	0	5	10				
C19orf35	374872	broad.mit.edu	37	19	2276204	2276204	+	Silent	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:2276204G>C	ENST00000342063.3	-	4	990	c.897C>G	c.(895-897)ggC>ggG	p.G299G		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	299										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGGGCCGCGCCCCACGCCT	0.711																																							uc002lvn.2		NA																	0				pancreas(1)	1						c.(895-897)GGC>GGG		hypothetical protein LOC374872							4.0	6.0	5.0					19																	2276204		2053	4015	6068	SO:0001819	synonymous_variant	374872							g.chr19:2276204G>C	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.897C>G	19.37:g.2276204G>C						SPPL2B_uc010dsw.1_Intron	p.G299G	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	997	-			299						Silent	SNP	ENST00000342063.3	37	c.897C>G	CCDS12087.1																																																																																				0.711	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		2	1	0	0	0	6.4e-05	0	2	1				
PLIN4	729359	broad.mit.edu	37	19	4499589	4499589	+	IGR	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:4499589G>A	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000586684.1_Silent_p.Q559Q|HDGFRP2_ENST00000301284.4_Silent_p.Q559Q	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						aggcggtgcagaaagtgaaca	0.632																																							uc002mao.2		NA																	0					0						c.(1675-1677)CAG>CAA		hepatoma-derived growth factor-related protein 2							30.0	35.0	33.0					19																	4499589		1933	4119	6052	SO:0001628	intergenic_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4499589G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4499589G>A						HDGFRP2_uc002map.2_Silent_p.Q559Q|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Silent_p.Q24Q|HDGFRP2_uc002maq.1_Silent_p.Q24Q	p.Q559Q	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN			14	1770	+			559			Potential.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.1677G>A	CCDS45927.1																																																																																				0.632	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		4	16	0	0	0	0.00024832	0	4	16				
DCAF15	90379	broad.mit.edu	37	19	14065430	14065430	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:14065430A>G	ENST00000254337.6	+	3	344	c.323A>G	c.(322-324)cAt>cGt	p.H108R	PODNL1_ENST00000538517.2_5'Flank|PODNL1_ENST00000538371.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	108					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TACATCTACCATCTGTACTGG	0.547																																							uc002mxt.2		NA																	0				central_nervous_system(1)	1						c.(322-324)CAT>CGT		DDB1 and CUL4 associated factor 15							109.0	96.0	101.0					19																	14065430		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14065430A>G	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.323A>G	19.37:g.14065430A>G	ENSP00000254337:p.His108Arg					PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank	p.H108R	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			3	329	+			108					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.323A>G	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.772994	0.69992	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.91	4.91	0.64330	.	0.000000	0.64402	U	0.000002	T	0.66577	0.2803	L	0.41824	1.3	0.53005	D	0.999968	D	0.89917	1.0	D	0.83275	0.996	T	0.64630	-0.6362	9	0.33940	T	0.23	-20.2192	13.5345	0.61641	1.0:0.0:0.0:0.0	.	108	Q66K64	DCA15_HUMAN	R	108	.	ENSP00000254337:H108R	H	+	2	0	DCAF15	13926430	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.382000	0.90154	1.837000	0.53436	0.529000	0.55759	CAT		0.547	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		9	57	0	0	0	0.000673444	0	9	57				
C19orf44	84167	broad.mit.edu	37	19	16633869	16633869	+	IGR	SNP	G	G	A	rs181968256	byFrequency	TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:16633869G>A	ENST00000221671.3	+	0	3427				CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Silent_p.L669L|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Silent_p.L658L	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TTACCTTCACGAGGGGGGCCA	0.607													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		16581	0.0		0.0	False		,,,				2504	0.0						uc002nei.1		NA																	0				ovary(2)	2						c.(1972-1974)CTC>CTT		calcium homeostasis endoplasmic reticulum		G		2,4006		0,2,2002	41.0	47.0	45.0		1974	-4.8	1.0	19		45	0,8324		0,0,4162	no	coding-synonymous	CHERP	NM_006387.5		0,2,6164	AA,AG,GG		0.0,0.0499,0.0162		658/917	16633869	2,12330	2004	4162	6166	SO:0001628	intergenic_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16633869G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16633869G>A						MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Silent_p.L197L	p.L658L	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			11	2048	-			658			Pro-rich.		Q8N6Y7	Silent	SNP	ENST00000221671.3	37	c.1974C>T	CCDS12345.1																																																																																				0.607	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		7	54	0	0	0	0.000157383	0	7	54				
ZNF676	163223	broad.mit.edu	37	19	22363504	22363504	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:22363504A>T	ENST00000397121.2	-	3	1332	c.1015T>A	c.(1015-1017)Tgt>Agt	p.C339S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATTCTTCACATTTGTAGGGT	0.413																																							uc002nqs.1		NA																	0					0						c.(1015-1017)TGT>AGT		zinc finger protein 676							74.0	80.0	78.0					19																	22363504		2177	4279	6456	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363504A>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1015T>A	19.37:g.22363504A>T	ENSP00000380310:p.Cys339Ser						p.C339S	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1333	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	339			C2H2-type 7.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1015T>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	14.38	2.519506	0.44866	.	.	ENSG00000196109	ENST00000397121	D	0.85171	-1.95	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93187	0.7830	H	0.95539	3.685	0.19945	N	0.999946	D	0.76494	0.999	D	0.85130	0.997	T	0.83259	-0.0049	9	0.87932	D	0	.	6.592	0.22651	1.0:0.0:0.0:0.0	.	339	Q8N7Q3	ZN676_HUMAN	S	339	ENSP00000380310:C339S	ENSP00000380310:C339S	C	-	1	0	ZNF676	22155344	0.973000	0.33851	0.033000	0.17914	0.033000	0.12548	4.598000	0.61069	0.166000	0.19597	0.164000	0.16699	TGT		0.413	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		20	66	0	0	0	0.00152264	0	20	66				
ZFP82	284406	broad.mit.edu	37	19	36883908	36883908	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:36883908A>G	ENST00000392161.3	-	5	1576	c.1334T>C	c.(1333-1335)aTt>aCt	p.I445T	ZFP82_ENST00000392171.1_Missense_Mutation_p.I445T	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTCTCACCAATATGAATACT	0.408																																							uc002ody.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1333-1335)ATT>ACT		zinc finger protein 82 homolog							93.0	91.0	92.0					19																	36883908		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36883908A>G	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1334T>C	19.37:g.36883908A>G	ENSP00000431265:p.Ile445Thr						p.I445T	NM_133466	NP_597723	Q8N141	ZFP82_HUMAN			5	1569	-			445					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.1334T>C	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.383356	0.01194	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.36699	1.24;1.24	4.2	2.11	0.27256	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.353839	0.20681	N	0.087649	T	0.05135	0.0137	N	0.00057	-2.36	0.24908	N	0.99206	B	0.02656	0.0	B	0.06405	0.002	T	0.40813	-0.9543	10	0.02654	T	1	.	5.0371	0.14440	0.6414:0.0:0.3586:0.0	.	445	Q8N141	ZFP82_HUMAN	T	445	ENSP00000431265:I445T;ENSP00000446080:I445T	ENSP00000431265:I445T	I	-	2	0	ZFP82	41575748	0.618000	0.27051	0.980000	0.43619	0.815000	0.46073	0.648000	0.24828	0.793000	0.33875	0.482000	0.46254	ATT		0.408	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		9	72	0	0	0	0.000442599	0	9	72				
FCGBP	8857	broad.mit.edu	37	19	40366480	40366480	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:40366480G>C	ENST00000221347.6	-	30	13761	c.13754C>G	c.(13753-13755)tCa>tGa	p.S4585*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4585	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGAGAGCCCTGAGGTTGTGGT	0.672																																							uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13753-13755)TCA>TGA		Fc fragment of IgG binding protein precursor							22.0	26.0	25.0					19																	40366480		2192	4284	6476	SO:0001587	stop_gained	8857					extracellular region	protein binding	g.chr19:40366480G>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13754C>G	19.37:g.40366480G>C	ENSP00000221347:p.Ser4585*						p.S4585*	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	13762	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4585			VWFD 11.		O95784	Nonsense_Mutation	SNP	ENST00000221347.6	37	c.13754C>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	52	19.410173	0.99919	.	.	ENSG00000090920	ENST00000221347	.	.	.	4.32	-8.64	0.00874	.	1.219570	0.05895	U	0.628867	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	0.8316	0.01132	0.3781:0.1975:0.1044:0.32	.	.	.	.	X	4585	.	ENSP00000221347:S4585X	S	-	2	0	FCGBP	45058320	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.431000	0.06965	-1.581000	0.01642	0.305000	0.20034	TCA		0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		7	65	0	0	0	0.000157383	0	7	65				
CYP2A13	1553	broad.mit.edu	37	19	41594951	41594951	+	Missense_Mutation	SNP	G	G	A	rs201061612		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:41594951G>A	ENST00000330436.3	+	2	298	c.298G>A	c.(298-300)Ggg>Agg	p.G100R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	100					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GGAGTTCAGCGGGCGAGGCGA	0.642																																							uc002opt.2		NA																	0				ovary(2)|skin(1)	3						c.(298-300)GGG>AGG		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						62.0	59.0	60.0					19																	41594951		2202	4277	6479	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594951G>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.298G>A	19.37:g.41594951G>A	ENSP00000332679:p.Gly100Arg						p.G100R	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			2	307	+			100					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.298G>A	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	12.54	1.969879	0.34754	.	.	ENSG00000197838	ENST00000330436	T	0.01272	5.07	3.39	2.34	0.29019	.	0.208200	0.39146	U	0.001444	T	0.08582	0.0213	M	0.86740	2.835	0.28853	N	0.895934	D	0.89917	1.0	D	0.91635	0.999	T	0.01004	-1.1484	10	0.87932	D	0	.	10.6852	0.45839	0.1018:0.0:0.8982:0.0	.	100	Q16696	CP2AD_HUMAN	R	100	ENSP00000332679:G100R	ENSP00000332679:G100R	G	+	1	0	CYP2A13	46286791	1.000000	0.71417	0.530000	0.27963	0.135000	0.20990	4.547000	0.60712	0.738000	0.32606	-0.763000	0.03452	GGG		0.642	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		9	43	0	0	0	0.000274275	0	9	43				
PSG5	5673	broad.mit.edu	37	19	43679469	43679469	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:43679469T>C	ENST00000366175.3	-	4	992	c.862A>G	c.(862-864)Atc>Gtc	p.I288V	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.I288V|PSG5_ENST00000342951.6_Missense_Mutation_p.I288V|PSG5_ENST00000599812.1_Missense_Mutation_p.I381V|PSG5_ENST00000404580.1_Missense_Mutation_p.I288V			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	288	Ig-like C2-type 2.			I -> M (in Ref. 3; AAA36514). {ECO:0000305}.	female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATTTGGGGGATAGAGAGCTTT	0.448																																							uc002ovu.2		NA																	0				skin(3)	3						c.(862-864)ATC>GTC		pregnancy specific beta-1-glycoprotein 5							179.0	191.0	187.0					19																	43679469		2202	4295	6497	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43679469T>C		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.862A>G	19.37:g.43679469T>C	ENSP00000382334:p.Ile288Val					PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.I163V|PSG5_uc002ovx.2_Missense_Mutation_p.I288V|PSG5_uc002ovv.2_Missense_Mutation_p.I381V|PSG5_uc002ovw.2_Intron	p.I288V	NM_002781	NP_002772	Q15238	PSG5_HUMAN			4	993	-		Prostate(69;0.00899)	288	I -> M (in Ref. 3; AAA36514).		Ig-like C2-type 2.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.862A>G	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	t	11.51	1.660339	0.29515	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	D;D;D;T	0.82526	-1.62;-1.62;-1.62;2.33	1.25	-0.376	0.12505	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84986	0.5594	M	0.62088	1.915	0.09310	N	1	P;P	0.40660	0.726;0.696	P;P	0.57244	0.816;0.687	T	0.74237	-0.3730	9	0.66056	D	0.02	.	2.795	0.05398	0.4176:0.0:0.0:0.5823	.	381;288	Q15228;Q15238	.;PSG5_HUMAN	V	288	ENSP00000382334:I288V;ENSP00000386008:I288V;ENSP00000344413:I288V;ENSP00000385250:I288V	ENSP00000344413:I288V	I	-	1	0	PSG5	48371309	0.003000	0.15002	0.004000	0.12327	0.005000	0.04900	-0.075000	0.11431	0.539000	0.28788	0.155000	0.16302	ATC		0.448	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		29	369	0	0	0	0.00127121	0	29	369				
PSG5	5673	broad.mit.edu	37	19	43679557	43679557	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:43679557G>A	ENST00000366175.3	-	4	904	c.774C>T	c.(772-774)taC>taT	p.Y258Y	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Silent_p.Y258Y|PSG5_ENST00000342951.6_Silent_p.Y258Y|PSG5_ENST00000599812.1_Silent_p.Y351Y|PSG5_ENST00000404580.1_Silent_p.Y258Y			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	258	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGCAGGACAAGTAGAGGTTTT	0.458																																							uc002ovu.2		NA																	0				skin(3)	3						c.(772-774)TAC>TAT		pregnancy specific beta-1-glycoprotein 5							159.0	172.0	168.0					19																	43679557		2203	4295	6498	SO:0001819	synonymous_variant	5673				female pregnancy	extracellular region		g.chr19:43679557G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.774C>T	19.37:g.43679557G>A						PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Silent_p.Y133Y|PSG5_uc002ovx.2_Silent_p.Y258Y|PSG5_uc002ovv.2_Silent_p.Y351Y|PSG5_uc002ovw.2_Intron	p.Y258Y	NM_002781	NP_002772	Q15238	PSG5_HUMAN			4	905	-		Prostate(69;0.00899)	258			Ig-like C2-type 2.		Q15239|Q96QJ1|Q9UQ75	Silent	SNP	ENST00000366175.3	37	c.774C>T	CCDS12617.1																																																																																				0.458	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		58	316	0	0	0	0.000781405	0	58	316				
SLC17A7	57030	broad.mit.edu	37	19	49934332	49934332	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:49934332G>A	ENST00000221485.3	-	11	1500	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	SLC17A7_ENST00000600601.1_Silent_p.G376G|SLC17A7_ENST00000543531.1_Silent_p.G431G	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	443					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GTGTGCCCACGCCGTTGGAGA	0.622																																							uc002pnp.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1327-1329)GGC>GGT		solute carrier family 17, member 7							88.0	71.0	77.0					19																	49934332		2203	4300	6503	SO:0001819	synonymous_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49934332G>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1329C>T	19.37:g.49934332G>A						SLC17A7_uc002pno.2_Silent_p.G105G	p.G443G	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	11	1501	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	443			Helical; (Potential).		B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	c.1329C>T	CCDS12764.1																																																																																				0.622	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			6	29	0	0	0	8.12818e-05	0	6	29				
ZNF761	388561	broad.mit.edu	37	19	53952852	53952852	+	RNA	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:53952852G>T	ENST00000454407.1	+	0	556							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)		TCTATACAGGGACGTGATGCT	0.478																																							uc010eqp.2		NA																	0				ovary(1)	1						c.(103-105)GAC>TAC		zinc finger protein 761							36.0	45.0	42.0					19																	53952852		876	1982	2858			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53952852G>T	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.53952852G>T						ZNF761_uc002qbr.2_RNA|ZNF761_uc010ydy.1_5'UTR|ZNF761_uc002qbs.2_RNA|ZNF761_uc002qbt.1_5'Flank	p.D35Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	5	561	+			35			KRAB.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.103G>T																																																																																					0.478	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		10	39	1	0	7.03913e-09	0.00136819	4.27444e-08	10	39				
ZNF761	388561	broad.mit.edu	37	19	53959377	53959377	+	RNA	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:53959377G>C	ENST00000454407.1	+	0	2069							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)		TCCCTTACCTGCCATCGTAGA	0.438																																							uc010eqp.2		NA																	0				ovary(1)	1						c.(1615-1617)TGC>TCC		zinc finger protein 761							100.0	100.0	100.0					19																	53959377		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959377G>C	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.53959377G>C						ZNF761_uc010ydy.1_Missense_Mutation_p.C485S|ZNF761_uc002qbt.1_Missense_Mutation_p.C485S	p.C539S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	2074	+			539			C2H2-type 12.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1616G>C																																																																																					0.438	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		20	95	0	0	0	0.00121646	0	20	95				
LILRB2	10288	broad.mit.edu	37	19	54778622	54778622	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:54778622C>T	ENST00000391749.4	-	14	1983	c.1712G>A	c.(1711-1713)aGa>aAa	p.R571K	LILRB2_ENST00000434421.1_Missense_Mutation_p.R455K|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.R570K|LILRB2_ENST00000391748.1_Missense_Mutation_p.R570K	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	571					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCCTTCCGTCTGAGGGTCAA	0.632																																							uc002qfb.2		NA																	0				skin(1)	1						c.(1711-1713)AGA>AAA		leukocyte immunoglobulin-like receptor,							126.0	114.0	118.0					19																	54778622		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54778622C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1712G>A	19.37:g.54778622C>T	ENSP00000375629:p.Arg571Lys					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_3'UTR|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.R570K|LILRB2_uc010yet.1_Missense_Mutation_p.R455K	p.R571K	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1978	-	Ovarian(34;0.19)		571			Cytoplasmic (Potential).		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1712G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	9.527	1.109713	0.20714	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421	T;T;T;T	0.00495	7.11;7.11;7.09;6.99	1.31	1.31	0.21738	.	.	.	.	.	T	0.00468	0.0015	L	0.45581	1.43	0.09310	N	1	B;B	0.19200	0.034;0.003	B;B	0.15052	0.012;0.002	T	0.41179	-0.9523	9	0.52906	T	0.07	.	6.172	0.20422	0.0:1.0:0.0:0.0	.	587;571	E7EVY1;Q8N423	.;LIRB2_HUMAN	K	570;570;571;455	ENSP00000375628:R570K;ENSP00000319960:R570K;ENSP00000375629:R571K;ENSP00000410117:R455K	ENSP00000319960:R570K	R	-	2	0	LILRB2	59470434	0.001000	0.12720	0.017000	0.16124	0.102000	0.19082	-0.030000	0.12308	1.071000	0.40834	0.297000	0.19635	AGA		0.632	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			9	83	0	0	0	0.000274275	0	9	83				
PPP1R12C	54776	broad.mit.edu	37	19	55605745	55605745	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:55605745G>A	ENST00000263433.3	-	13	1666	c.1651C>T	c.(1651-1653)Cgt>Tgt	p.R551C	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R551C|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R477C	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CGCATGAGACGGGAGCGAGCT	0.652																																							uc002qix.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1651-1653)CGT>TGT		protein phosphatase 1, regulatory subunit 12C							96.0	91.0	93.0					19																	55605745		2203	4300	6503	SO:0001583	missense	54776					cytoplasm		g.chr19:55605745G>A	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1651C>T	19.37:g.55605745G>A	ENSP00000263433:p.Arg551Cys					PPP1R12C_uc010yfs.1_Missense_Mutation_p.R477C|PPP1R12C_uc002qiy.2_Missense_Mutation_p.R550C	p.R551C	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	13	1667	-			551						Missense_Mutation	SNP	ENST00000263433.3	37	c.1651C>T	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079169	0.76528	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.80909	-1.22;-1.39;-1.43	4.79	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.75615	2.305	0.52501	D	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.959;0.997;0.972	D	0.87873	0.2672	10	0.54805	T	0.06	.	11.7797	0.52006	0.0:0.0:0.8234:0.1766	.	477;550;551	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	C	551;551;477	ENSP00000263433:R551C;ENSP00000365573:R551C;ENSP00000387833:R477C	ENSP00000263433:R551C	R	-	1	0	PPP1R12C	60297557	0.655000	0.27376	1.000000	0.80357	0.992000	0.81027	1.545000	0.36169	2.390000	0.81377	0.561000	0.74099	CGT		0.652	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		9	71	0	0	0	0.000442599	0	9	71				
ZNF132	7691	broad.mit.edu	37	19	58945293	58945293	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:58945293C>G	ENST00000254166.3	-	3	1918	c.1518G>C	c.(1516-1518)caG>caC	p.Q506H	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	506					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(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TATGTACTTTCTGGTGCTGGA	0.488																																							uc002qst.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1516-1518)CAG>CAC		zinc finger protein 132							75.0	72.0	73.0					19																	58945293		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945293C>G	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1518G>C	19.37:g.58945293C>G	ENSP00000254166:p.Gln506His						p.Q506H	NM_003433	NP_003424	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1919	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	506			C2H2-type 11.		Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.1518G>C	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211609	0.39102	.	.	ENSG00000131849	ENST00000254166	T	0.07567	3.18	3.57	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08133	0.0203	L	0.59912	1.85	0.09310	N	1	P	0.35894	0.526	B	0.32090	0.14	T	0.28459	-1.0043	9	0.72032	D	0.01	.	4.453	0.11630	0.0:0.5919:0.1879:0.2201	.	506	P52740	ZN132_HUMAN	H	506	ENSP00000254166:Q506H	ENSP00000254166:Q506H	Q	-	3	2	ZNF132	63637105	0.000000	0.05858	0.969000	0.41365	0.981000	0.71138	-0.767000	0.04720	0.607000	0.29982	0.655000	0.94253	CAG		0.488	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		9	51	0	0	0	0.000442599	0	9	51				
RNASEH1	246243	broad.mit.edu	37	2	3596229	3596229	+	Splice_Site	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:3596229C>G	ENST00000315212.3	-	6	1005		c.e6+1		RP13-512J5.1_ENST00000438485.1_5'Flank	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1						mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TGAAAGCTTACCATTTATCGT	0.413																																							uc002qxt.2		NA																	0				ovary(1)	1						c.e6+1		ribonuclease H1							147.0	126.0	133.0					2																	3596229		2202	4300	6502	SO:0001630	splice_region_variant	246243				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	g.chr2:3596229C>G	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.649+1G>C	2.37:g.3596229C>G						RNASEH1_uc002qxs.2_Splice_Site_p.G100_splice	p.G217_splice	NM_002936	NP_002927	O60930	RNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)	6	739	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)							B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Splice_Site	SNP	ENST00000315212.3	37	c.649_splice	CCDS1647.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358894	0.24598	.	.	ENSG00000171865	ENST00000315212	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3272	0.82987	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNASEH1	3574104	1.000000	0.71417	0.990000	0.47175	0.093000	0.18481	6.365000	0.73090	2.512000	0.84698	0.563000	0.77884	.		0.413	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2		Intron	3	38	0	0	0	0.00024832	0	3	38				
OSR1	130497	broad.mit.edu	37	2	19553422	19553422	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:19553422C>A	ENST00000272223.2	-	2	489	c.145G>T	c.(145-147)Gct>Tct	p.A49S	OSR1_ENST00000536433.1_Missense_Mutation_p.A49S	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	49					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AGGTGCACAGCGTGCAACGCG	0.612																																							uc002rdc.2		NA																	0				ovary(1)	1						c.(145-147)GCT>TCT		odd-skipped related 1							49.0	47.0	48.0					2																	19553422		2203	4300	6503	SO:0001583	missense	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19553422C>A	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.145G>T	2.37:g.19553422C>A	ENSP00000272223:p.Ala49Ser						p.A49S	NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN			2	448	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	49					B3KV97|D6W521	Missense_Mutation	SNP	ENST00000272223.2	37	c.145G>T	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347481	0.82022	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.07908	3.15;3.15	5.27	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.15435	0.0372	L	0.51422	1.61	0.46061	D	0.998847	D	0.62365	0.991	P	0.52481	0.7	T	0.01729	-1.1286	9	.	.	.	-11.4994	13.908	0.63848	0.0:0.926:0.0:0.074	.	49	Q8TAX0	OSR1_HUMAN	S	49	ENSP00000272223:A49S;ENSP00000441801:A49S	.	A	-	1	0	OSR1	19416903	0.806000	0.28996	0.168000	0.22838	0.986000	0.74619	1.615000	0.36922	1.466000	0.48025	0.555000	0.69702	GCT		0.612	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		5	19	1	0	1.23904e-05	0.000602214	6.98652e-05	5	19				
CAPN13	92291	broad.mit.edu	37	2	30985980	30985980	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:30985980G>A	ENST00000295055.8	-	7	918	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	CAPN13_ENST00000534090.2_Missense_Mutation_p.L248F|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	248	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TAGGCATGGAGACTCACCAGC	0.522																																							uc002rnn.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(742-744)CTC>TTC		calpain 13							61.0	69.0	67.0					2																	30985980		2015	4184	6199	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30985980G>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.742C>T	2.37:g.30985980G>A	ENSP00000295055:p.Leu248Phe					CAPN13_uc002rnp.1_Missense_Mutation_p.L248F	p.L248F	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			7	918	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		248			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.742C>T	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380920	0.24944	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.15834	2.39;2.39	4.78	-0.919	0.10478	Peptidase C2, calpain, catalytic domain (3);	1.178890	0.05851	N	0.621204	T	0.15522	0.0374	N	0.11845	0.185	0.09310	N	1	D	0.54601	0.967	P	0.51550	0.673	T	0.39461	-0.9613	10	0.59425	D	0.04	.	8.9623	0.35854	0.0:0.5001:0.2435:0.2564	.	248	Q6MZZ7	CAN13_HUMAN	F	248	ENSP00000295055:L248F;ENSP00000431298:L248F	ENSP00000295055:L248F	L	-	1	0	CAPN13	30839484	0.794000	0.28838	0.000000	0.03702	0.192000	0.23643	1.677000	0.37576	0.130000	0.18549	-0.502000	0.04539	CTC		0.522	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		5	19	0	0	0	0.00116845	0	5	19				
SPAST	6683	broad.mit.edu	37	2	32339713	32339713	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:32339713G>C	ENST00000315285.3	+	5	814	c.689G>C	c.(688-690)gGa>gCa	p.G230A	SPAST_ENST00000345662.1_Missense_Mutation_p.G198A	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCAGAAAGTGGAGCTGTTCCA	0.358																																							uc002roc.2		NA																	0				breast(1)	1						c.(688-690)GGA>GCA		spastin isoform 1							55.0	57.0	57.0					2																	32339713		2203	4299	6502	SO:0001583	missense	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32339713G>C	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.689G>C	2.37:g.32339713G>C	ENSP00000320885:p.Gly230Ala					SPAST_uc002rod.2_Missense_Mutation_p.G198A	p.G230A	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN			5	910	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		230			Required for interaction with RTN1.|Sufficient for microtubule severing.|Sufficient for interaction with microtubules.			Missense_Mutation	SNP	ENST00000315285.3	37	c.689G>C	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689277	0.48097	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	T;T	0.63913	-0.07;-0.07	5.09	5.09	0.68999	.	0.867745	0.10290	N	0.692461	T	0.58566	0.2131	L	0.46157	1.445	0.58432	D	0.999999	B;B	0.30605	0.126;0.287	B;B	0.28011	0.041;0.085	T	0.51513	-0.8696	10	0.21014	T	0.42	-28.3071	18.0777	0.89432	0.0:0.0:1.0:0.0	.	198;230	E5KRP6;Q9UBP0	.;SPAST_HUMAN	A	198;230	ENSP00000340817:G198A;ENSP00000320885:G230A	ENSP00000320885:G230A	G	+	2	0	SPAST	32193217	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.295000	0.78780	2.374000	0.81015	0.460000	0.39030	GGA		0.358	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		6	44	0	0	0	0.00116845	0	6	44				
THADA	63892	broad.mit.edu	37	2	43797537	43797537	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:43797537T>C	ENST00000405006.4	-	14	2528	c.2177A>G	c.(2176-2178)cAg>cGg	p.Q726R	THADA_ENST00000415080.2_Missense_Mutation_p.Q436R|THADA_ENST00000330266.7_Missense_Mutation_p.Q436R|THADA_ENST00000405975.2_Missense_Mutation_p.Q726R|THADA_ENST00000403856.1_Missense_Mutation_p.Q726R|THADA_ENST00000402360.2_Missense_Mutation_p.Q726R|THADA_ENST00000404790.1_Missense_Mutation_p.Q726R	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	726										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTTATACTGCTGTAAAGAAAC	0.313																																							uc002rsw.3		NA																	0				ovary(2)|skin(1)	3						c.(2176-2178)CAG>CGG		thyroid adenoma associated							146.0	133.0	137.0					2																	43797537		1809	4073	5882	SO:0001583	missense	63892						binding	g.chr2:43797537T>C	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2177A>G	2.37:g.43797537T>C	ENSP00000385995:p.Gln726Arg					THADA_uc010far.2_5'UTR|THADA_uc002rsx.3_Missense_Mutation_p.Q726R|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.Q436R|THADA_uc010fat.1_5'UTR|THADA_uc002rta.2_Missense_Mutation_p.Q436R|THADA_uc002rtb.1_Missense_Mutation_p.Q726R|THADA_uc002rtc.3_Missense_Mutation_p.Q726R|THADA_uc002rtd.2_Missense_Mutation_p.Q726R	p.Q726R	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			14	2529	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	726					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.2177A>G	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.56|13.56	2.272567|2.272567	0.40194|0.40194	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856|ENST00000407351	T;T;T;T;T;T;T|.	0.66099|.	1.42;2.79;2.65;2.79;-0.19;-0.19;1.48|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Armadillo-type fold (1);|.	0.360350|.	0.30338|.	N|.	0.009841|.	T|T	0.68366|0.68366	0.2993|0.2993	M|M	0.68317|0.68317	2.08|2.08	0.33498|0.33498	D|D	0.589565|0.589565	D;P;B;B;P|.	0.55385|.	0.971;0.787;0.196;0.124;0.682|.	P;B;B;B;B|.	0.55577|.	0.779;0.439;0.099;0.031;0.255|.	T|T	0.77133|0.77133	-0.2700|-0.2700	10|5	0.36615|.	T|.	0.2|.	.|.	15.4421|15.4421	0.75190|0.75190	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	726;726;726;436;726|.	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6|.	.;.;.;.;THADA_HUMAN|.	R|G	436;726;727;436;726;726;726;726|40	ENSP00000331105:Q436R;ENSP00000386088:Q726R;ENSP00000416048:Q436R;ENSP00000385995:Q726R;ENSP00000385441:Q726R;ENSP00000384266:Q726R;ENSP00000385469:Q726R|.	ENSP00000331105:Q436R|.	Q|S	-|-	2|1	0|0	THADA|THADA	43651041|43651041	1.000000|1.000000	0.71417|0.71417	0.778000|0.778000	0.31720|0.31720	0.985000|0.985000	0.73830|0.73830	3.592000|3.592000	0.53993|0.53993	2.047000|2.047000	0.60756|0.60756	0.482000|0.482000	0.46254|0.46254	CAG|AGC		0.313	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		6	44	0	0	0	0.000274275	0	6	44				
CYP26B1	56603	broad.mit.edu	37	2	72360361	72360361	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:72360361G>A	ENST00000001146.2	-	5	1140	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L	CYP26B1_ENST00000412253.1_Silent_p.L122L|CYP26B1_ENST00000546307.1_Silent_p.L238L	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	313					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGGTGCTTCAGCAGCTGCATG	0.652																																							uc002sih.1		NA																	0				skin(2)	2						c.(937-939)CTG>TTG		cytochrome P450, family 26, subfamily b,							26.0	27.0	26.0					2																	72360361		2203	4299	6502	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72360361G>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.937C>T	2.37:g.72360361G>A						CYP26B1_uc010yra.1_Silent_p.L296L|CYP26B1_uc010yrb.1_Silent_p.L238L	p.L313L	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			5	937	-			313					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.937C>T	CCDS1919.1																																																																																				0.652	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		4	20	0	0	0	0.00024832	0	4	20				
ALMS1	7840	broad.mit.edu	37	2	73830384	73830384	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:73830384G>A	ENST00000264448.6	+	21	12423	c.12312G>A	c.(12310-12312)caG>caA	p.Q4104Q	ALMS1_ENST00000409009.1_Silent_p.Q4062Q|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4104	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGCTATCCAGAAGAACAAGC	0.478																																							uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(12316-12318)CAG>CAA		Alstrom syndrome 1							103.0	100.0	101.0					2																	73830384		2203	4300	6503	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73830384G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12312G>A	2.37:g.73830384G>A						ALMS1_uc002sjf.1_Silent_p.Q4062Q|ALMS1_uc002sjh.1_Silent_p.Q3492Q	p.Q4106Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			23	12429	+			4104					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.12318G>A	CCDS42697.1																																																																																				0.478	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		7	36	0	0	0	0.000274275	0	7	36				
DCTN1	1639	broad.mit.edu	37	2	74604792	74604792	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:74604792G>C	ENST00000361874.3	-	3	658	c.341C>G	c.(340-342)tCa>tGa	p.S114*	DCTN1_ENST00000409868.1_Nonsense_Mutation_p.S97*|DCTN1_ENST00000409567.3_Nonsense_Mutation_p.S114*|DCTN1_ENST00000394003.3_Nonsense_Mutation_p.S114*|DCTN1_ENST00000409240.1_Nonsense_Mutation_p.S97*|DCTN1_ENST00000407639.2_5'Flank|DCTN1_ENST00000409438.1_5'Flank	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	114					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GAGGACTTTTGAAGCAGAAGA	0.468																																							uc002skx.2		NA																	0				ovary(3)|skin(2)	5						c.(340-342)TCA>TGA		dynactin 1 isoform 1							161.0	161.0	161.0					2																	74604792		2203	4300	6503	SO:0001587	stop_gained	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74604792G>C		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.341C>G	2.37:g.74604792G>C	ENSP00000354791:p.Ser114*					DCTN1_uc002skv.2_5'Flank|DCTN1_uc002sku.2_5'Flank|DCTN1_uc002skw.1_Nonsense_Mutation_p.S97*|DCTN1_uc010ffd.2_Nonsense_Mutation_p.S114*|DCTN1_uc002sky.2_Nonsense_Mutation_p.S97*	p.S114*	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			3	652	-			114					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Nonsense_Mutation	SNP	ENST00000361874.3	37	c.341C>G	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	37	5.997368	0.97184	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000409240;ENST00000409868;ENST00000409567;ENST00000458655;ENST00000454119;ENST00000417090	.	.	.	5.17	4.28	0.50868	.	0.483190	0.15499	N	0.259138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-1.2343	14.084	0.64944	0.0:0.0:0.8478:0.1522	.	.	.	.	X	114;114;97;97;97;114;121;97;118	.	ENSP00000354791:S114X	S	-	2	0	DCTN1	74458300	0.967000	0.33354	1.000000	0.80357	0.976000	0.68499	3.485000	0.53208	1.388000	0.46506	0.655000	0.94253	TCA		0.468	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		9	90	0	0	0	0.000673444	0	9	90				
REG3G	130120	broad.mit.edu	37	2	79254244	79254244	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:79254244A>T	ENST00000272324.5	+	4	464	c.280A>T	c.(280-282)Agc>Tgc	p.S94C	REG3G_ENST00000393897.2_Missense_Mutation_p.S94C|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	94	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTGGTGAGGAGCATTAGTAA	0.537																																							uc002snw.2		NA																	0					0						c.(280-282)AGC>TGC		regenerating islet-derived 3 gamma precursor							161.0	145.0	150.0					2																	79254244		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254244A>T	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.280A>T	2.37:g.79254244A>T	ENSP00000272324:p.Ser94Cys					REG3G_uc002snx.2_Missense_Mutation_p.S94C|REG3G_uc010ffu.2_Intron	p.S94C	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			4	365	+			94			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.280A>T	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705900	0.48412	.	.	ENSG00000143954	ENST00000393897;ENST00000272324	T;T	0.03094	4.05;4.05	4.83	2.46	0.29980	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.872300	0.10058	N	0.721335	T	0.11793	0.0287	M	0.77103	2.36	0.09310	N	1	P	0.48503	0.911	P	0.52823	0.71	T	0.13845	-1.0494	10	0.66056	D	0.02	.	7.862	0.29516	0.8821:0.0:0.1179:0.0	.	94	Q6UW15	REG3G_HUMAN	C	94	ENSP00000377475:S94C;ENSP00000272324:S94C	ENSP00000272324:S94C	S	+	1	0	REG3G	79107752	0.005000	0.15991	0.003000	0.11579	0.002000	0.02628	1.646000	0.37249	0.436000	0.26393	0.533000	0.62120	AGC		0.537	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		18	96	0	0	0	0.00152264	0	18	96				
CNTNAP5	129684	broad.mit.edu	37	2	125405345	125405345	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:125405345C>G	ENST00000431078.1	+	13	2248	c.1884C>G	c.(1882-1884)atC>atG	p.I628M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	628	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGACAAGATCTGGACATCAG	0.547																																							uc002tno.2		NA																	0				ovary(10)	10						c.(1882-1884)ATC>ATG		contactin associated protein-like 5 precursor							39.0	39.0	39.0					2																	125405345		2103	4237	6340	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125405345C>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1884C>G	2.37:g.125405345C>G	ENSP00000399013:p.Ile628Met					CNTNAP5_uc010flu.2_Missense_Mutation_p.I629M	p.I628M	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	13	2248	+			628			Extracellular (Potential).|Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1884C>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971308	0.53614	.	.	ENSG00000155052	ENST00000431078	T	0.20598	2.06	5.5	0.358	0.16084	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.51477	D	0.000085	T	0.30355	0.0762	M	0.78916	2.43	0.41099	D	0.98565	D	0.62365	0.991	P	0.55871	0.786	T	0.08638	-1.0712	10	0.38643	T	0.18	.	2.5961	0.04855	0.1291:0.5227:0.1253:0.2229	.	628	Q8WYK1	CNTP5_HUMAN	M	628	ENSP00000399013:I628M	ENSP00000399013:I628M	I	+	3	3	CNTNAP5	125121815	0.996000	0.38824	0.998000	0.56505	0.851000	0.48451	0.331000	0.19733	-0.008000	0.14320	0.561000	0.74099	ATC		0.547	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			4	22	0	0	0	0.00024832	0	4	22				
LRP1B	53353	broad.mit.edu	37	2	141641532	141641532	+	Silent	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:141641532T>A	ENST00000389484.3	-	25	4994	c.4023A>T	c.(4021-4023)acA>acT	p.T1341T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1341					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAGTCGACTGTCAGGCCTT	0.473										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4021-4023)ACA>ACT		low density lipoprotein-related protein 1B							142.0	136.0	138.0					2																	141641532		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141641532T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4023A>T	2.37:g.141641532T>A		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Silent_p.T523T	p.T1341T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	25	4995	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1341			Extracellular (Potential).|LDL-receptor class B 9.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.4023A>T	CCDS2182.1																																																																																				0.473	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	106	0	0	0	0.000308642	0	14	106				
LRP1B	53353	broad.mit.edu	37	2	141773358	141773358	+	Silent	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:141773358A>G	ENST00000389484.3	-	13	3068	c.2097T>C	c.(2095-2097)ggT>ggC	p.G699G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	699					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAGAGTTAAACCGTTTGGCC	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2095-2097)GGT>GGC		low density lipoprotein-related protein 1B							131.0	126.0	128.0					2																	141773358		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141773358A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2097T>C	2.37:g.141773358A>G		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.G699G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	13	3069	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	699			Extracellular (Potential).|LDL-receptor class B 7.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.2097T>C	CCDS2182.1																																																																																				0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	39	0	0	0	0.000274275	0	9	39				
FIGN	55137	broad.mit.edu	37	2	164466757	164466757	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:164466757C>A	ENST00000333129.3	-	3	1899	c.1585G>T	c.(1585-1587)Ggg>Tgg	p.G529W	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	529					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTGCCTGTCCCCCGAGGTCCA	0.512																																							uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1585-1587)GGG>TGG		fidgetin							66.0	63.0	64.0					2																	164466757		1943	4145	6088	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466757C>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1585G>T	2.37:g.164466757C>A	ENSP00000333836:p.Gly529Trp						p.G529W	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1896	-			529			ATP (By similarity).		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1585G>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215580	0.58452	.	.	ENSG00000182263	ENST00000333129	D	0.99881	-7.47	5.66	5.66	0.87406	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96210	0.9152	10	0.87932	D	0	-27.321	19.7468	0.96255	0.0:1.0:0.0:0.0	.	529	Q5HY92	FIGN_HUMAN	W	529	ENSP00000333836:G529W	ENSP00000333836:G529W	G	-	1	0	FIGN	164175003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.678000	0.91216	0.563000	0.77884	GGG		0.512	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		11	40	1	0	0.000978159	0.000978159	0.00527184	11	40				
FIGN	55137	broad.mit.edu	37	2	164467138	164467138	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:164467138G>A	ENST00000333129.3	-	3	1518	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	402					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTGTAGGAAGGAGGGGTCAGA	0.473																																							uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1204-1206)CCT>TCT		fidgetin							88.0	89.0	89.0					2																	164467138		1988	4171	6159	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467138G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1204C>T	2.37:g.164467138G>A	ENSP00000333836:p.Pro402Ser						p.P402S	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1515	-			402					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1204C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873256	0.17322	.	.	ENSG00000182263	ENST00000333129	D	0.92099	-2.97	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.95130	0.8422	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91672	0.5351	10	0.14252	T	0.57	-14.3458	20.5948	0.99439	0.0:0.0:1.0:0.0	.	402	Q5HY92	FIGN_HUMAN	S	402	ENSP00000333836:P402S	ENSP00000333836:P402S	P	-	1	0	FIGN	164175384	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	CCT		0.473	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		14	69	0	0	0	0.000219431	0	14	69				
XIRP2	129446	broad.mit.edu	37	2	167760039	167760039	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:167760039G>T	ENST00000409728.1	+	2	136	c.47G>T	c.(46-48)tGg>tTg	p.W16L	XIRP2_ENST00000420519.1_Missense_Mutation_p.W16L|XIRP2_ENST00000409756.2_Missense_Mutation_p.W16L|XIRP2_ENST00000409043.1_Missense_Mutation_p.W16L|XIRP2_ENST00000409195.1_Missense_Mutation_p.W16L|XIRP2_ENST00000295237.9_Missense_Mutation_p.W16L	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGCAGAAATGGGAATCTTGT	0.473																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(46-48)TGG>TTG		xin actin-binding repeat containing 2 isoform 1							69.0	68.0	69.0					2																	167760039		1931	4136	6067	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760039G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.47G>T	2.37:g.167760039G>T	ENSP00000386619:p.Trp16Leu					XIRP2_uc010fpn.2_Missense_Mutation_p.W16L|XIRP2_uc010fpo.2_Missense_Mutation_p.W16L|XIRP2_uc010fpp.2_Missense_Mutation_p.W16L	p.W16L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			1	65	+			Error:Variant_position_missing_in_A4UGR9_after_alignment					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.47G>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142550	0.77888	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.91894	-2.92;-2.93;2.54;-2.92;-2.93;2.54	5.36	5.36	0.76844	.	.	.	.	.	D	0.95847	0.8648	.	.	.	0.30240	N	0.79509	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93232	0.6618	8	0.87932	D	0	-1.478	14.5682	0.68194	0.0:0.0:1.0:0.0	.	16;16	A4UGR9-4;A4UGR9-6	.;.	L	16	ENSP00000386454:W16L;ENSP00000386619:W16L;ENSP00000386840:W16L;ENSP00000386724:W16L;ENSP00000415541:W16L;ENSP00000295237:W16L	ENSP00000295237:W16L	W	+	2	0	XIRP2	167468285	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.830000	0.62745	2.506000	0.84524	0.655000	0.94253	TGG		0.473	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		5	49	1	0	0.000602214	0.000602214	0.00325876	5	49				
TTN	7273	broad.mit.edu	37	2	179431323	179431323	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:179431323G>C	ENST00000591111.1	-	276	74837	c.74613C>G	c.(74611-74613)atC>atG	p.I24871M	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I17639M|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I26512M|TTN_ENST00000342992.6_Missense_Mutation_p.I23944M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I17572M|TTN_ENST00000460472.2_Missense_Mutation_p.I17447M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24871	Fibronectin type-III 81. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I23942I(1)|p.I17572I(1)|p.I17639I(1)|p.I17447I(1)|p.I23944I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCCATCATAGATGGGTTTAC	0.443																																							uc010zfg.1		NA																	5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(71830-71832)ATC>ATG		titin isoform N2-A							187.0	188.0	188.0					2																	179431323		1866	4101	5967	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431323G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74613C>G	2.37:g.179431323G>C	ENSP00000465570:p.Ile24871Met					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I17639M|TTN_uc010zfi.1_Missense_Mutation_p.I17572M|TTN_uc010zfj.1_Missense_Mutation_p.I17447M	p.I23944M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72056	-			24871					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.71832C>G		.	.	.	.	.	.	.	.	.	.	G	6.005	0.369331	0.11352	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.78	2.63	0.31362	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51041	0.1651	L	0.31120	0.905	0.36059	D	0.841283	D;D;D;D	0.62365	0.991;0.991;0.991;0.983	P;P;P;P	0.62740	0.906;0.906;0.906;0.867	T	0.59026	-0.7531	9	0.87932	D	0	.	2.8964	0.05692	0.4629:0.0:0.3383:0.1988	.	17447;17572;17639;24871	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	23944;17447;17639;17572;17445	ENSP00000343764:I23944M;ENSP00000434586:I17447M;ENSP00000340554:I17639M;ENSP00000352154:I17572M	ENSP00000340554:I17639M	I	-	3	3	TTN	179139569	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	0.953000	0.29162	0.783000	0.33636	-0.291000	0.09656	ATC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	220	0	0	0	0.00127121	0	29	220				
TTN	7273	broad.mit.edu	37	2	179439646	179439646	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:179439646T>A	ENST00000591111.1	-	276	66514	c.66290A>T	c.(66289-66291)gAa>gTa	p.E22097V	RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14865V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E23738V|TTN_ENST00000342992.6_Missense_Mutation_p.E21170V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14798V|TTN_ENST00000460472.2_Missense_Mutation_p.E14673V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22097	Fibronectin type-III 60. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGAAACTTCATCAAATTT	0.448																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(63508-63510)GAA>GTA		titin isoform N2-A							56.0	52.0	54.0					2																	179439646		1904	4136	6040	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179439646T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66290A>T	2.37:g.179439646T>A	ENSP00000465570:p.Glu22097Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E14865V|TTN_uc010zfi.1_Missense_Mutation_p.E14798V|TTN_uc010zfj.1_Missense_Mutation_p.E14673V	p.E21170V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	63733	-			22097					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.63509A>T		.	.	.	.	.	.	.	.	.	.	T	13.54	2.268180	0.40095	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.69	5.69	0.88448	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73171	0.3553	M	0.69248	2.105	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.994	D;D;D;P	0.65323	0.934;0.934;0.934;0.906	T	0.76457	-0.2952	9	0.87932	D	0	.	15.9537	0.79865	0.0:0.0:0.0:1.0	.	14673;14798;14865;22097	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	21170;14673;14865;14798;14671	ENSP00000343764:E21170V;ENSP00000434586:E14673V;ENSP00000340554:E14865V;ENSP00000352154:E14798V	ENSP00000340554:E14865V	E	-	2	0	TTN	179147892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.179000	0.69175	0.528000	0.53228	GAA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	19	0	0	0	0.00116845	0	5	19				
SSFA2	6744	broad.mit.edu	37	2	182767109	182767109	+	Silent	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:182767109T>C	ENST00000431877.2	+	8	1508	c.1329T>C	c.(1327-1329)ccT>ccC	p.P443P	SSFA2_ENST00000409001.1_Silent_p.P443P|SSFA2_ENST00000428267.2_Silent_p.P290P|SSFA2_ENST00000320370.7_Silent_p.P443P	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	443						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TATCCACACCTGAAAAAGAGC	0.393																																							uc002uoi.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1327-1329)CCT>CCC		sperm specific antigen 2 isoform 1							97.0	103.0	101.0					2																	182767109		2198	4298	6496	SO:0001819	synonymous_variant	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182767109T>C	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1329T>C	2.37:g.182767109T>C						SSFA2_uc002uoh.2_Silent_p.P443P|SSFA2_uc002uoj.2_Silent_p.P443P|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Silent_p.P290P|SSFA2_uc002uol.2_Silent_p.P290P	p.P443P	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		8	1651	+			443					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Silent	SNP	ENST00000431877.2	37	c.1329T>C	CCDS46467.1																																																																																				0.393	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		4	50	0	0	0	0.000602214	0	4	50				
COL5A2	1290	broad.mit.edu	37	2	189929354	189929354	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:189929354C>A	ENST00000374866.3	-	25	1919	c.1645G>T	c.(1645-1647)Ggt>Tgt	p.G549C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	549					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGAAGAACCTACAGGACCC	0.488																																							uc002uqk.2		NA																	0				ovary(2)	2						c.(1645-1647)GGT>TGT		alpha 2 type V collagen preproprotein							54.0	57.0	56.0					2																	189929354		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189929354C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1645G>T	2.37:g.189929354C>A	ENSP00000364000:p.Gly549Cys					COL5A2_uc010frx.2_Missense_Mutation_p.G125C	p.G549C	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		25	1920	-			549					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.1645G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055697	0.93793	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99637	-6.29	5.59	5.59	0.84812	.	0.000000	0.56097	D	0.000040	D	0.99854	0.9932	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96579	0.9429	9	.	.	.	.	19.9542	0.97213	0.0:1.0:0.0:0.0	.	189;549	Q5PR22;P05997	.;CO5A2_HUMAN	C	549;189	ENSP00000364000:G549C	.	G	-	1	0	COL5A2	189637599	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.445000	0.80570	2.788000	0.95919	0.585000	0.79938	GGT		0.488	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		19	51	1	0	3.5997e-14	0.000295444	2.31139e-13	19	51				
ALS2	57679	broad.mit.edu	37	2	202626448	202626448	+	Missense_Mutation	SNP	C	C	T	rs374117082		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:202626448C>T	ENST00000264276.6	-	4	641	c.269G>A	c.(268-270)gGg>gAg	p.G90E	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.G90E	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	90					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AACATATTGCCCAACCAGGGC	0.502																																							uc002uyo.2		NA																	0				skin(5)|lung(1)|breast(1)	7						c.(268-270)GGG>GAG		alsin isoform 1		C	GLU/GLY,GLU/GLY	0,3890		0,0,1945	116.0	112.0	113.0		269,269	6.1	1.0	2		113	1,8303		0,1,4151	no	missense,missense	ALS2	NM_001135745.1,NM_020919.3	98,98	0,1,6096	TT,TC,CC		0.012,0.0,0.0082	possibly-damaging,possibly-damaging	90/397,90/1658	202626448	1,12193	1945	4152	6097	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626448C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.269G>A	2.37:g.202626448C>T	ENSP00000264276:p.Gly90Glu					ALS2_uc002uyp.3_Missense_Mutation_p.G90E|ALS2_uc002uyq.2_Missense_Mutation_p.G90E|ALS2_uc002uyr.2_Missense_Mutation_p.G90E	p.G90E	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			4	625	-			90			RCC1 1.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.269G>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288519	0.80914	0.0	1.2E-4	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	6.07	6.07	0.98685	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.91446	0.7300	M	0.74546	2.27	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.927;0.982	D;D;B;P	0.97110	1.0;1.0;0.388;0.724	D	0.90015	0.4124	10	0.48119	T	0.1	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	90;90;90;90	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	E	90	ENSP00000264276:G90E;ENSP00000429223:G90E;ENSP00000386384:G90E;ENSP00000386948:G90E	ENSP00000264276:G90E	G	-	2	0	ALS2	202334693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.647000	0.67923	2.885000	0.99019	0.655000	0.94253	GGG		0.502	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		17	84	0	0	0	0.00121646	0	17	84				
PLCB4	5332	broad.mit.edu	37	20	9376236	9376236	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr20:9376236A>G	ENST00000378493.1	+	16	1496	c.1481A>G	c.(1480-1482)gAg>gGg	p.E494G	PLCB4_ENST00000378473.3_Missense_Mutation_p.E494G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.E494G|PLCB4_ENST00000334005.3_Missense_Mutation_p.E494G|PLCB4_ENST00000414679.2_Missense_Mutation_p.E494G|PLCB4_ENST00000378501.2_Missense_Mutation_p.E494G			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	494					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AACATCTTAGAGGACGATAAT	0.413																																							uc002wnf.2		NA																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(1480-1482)GAG>GGG		phospholipase C beta 4 isoform b							117.0	119.0	118.0					20																	9376236		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9376236A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1481A>G	20.37:g.9376236A>G	ENSP00000367754:p.Glu494Gly					PLCB4_uc010gbw.1_Missense_Mutation_p.E494G|PLCB4_uc010gbx.2_Missense_Mutation_p.E494G|PLCB4_uc002wne.2_Missense_Mutation_p.E494G|PLCB4_uc002wnh.2_Missense_Mutation_p.E341G	p.E494G	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			18	1617	+			494					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1481A>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.806241	0.31961	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.24723	2.03;2.03;2.04;2.04;2.03;1.84	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.211234	0.35708	U	0.003038	T	0.19287	0.0463	N	0.24115	0.695	0.53005	D	0.999961	B;B;B;B	0.18310	0.006;0.001;0.0;0.027	B;B;B;B	0.15484	0.011;0.004;0.0;0.013	T	0.05419	-1.0886	10	0.22706	T	0.39	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	494;341;494;494	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	G	494;494;494;494;494;330	ENSP00000334105:E494G;ENSP00000367734:E494G;ENSP00000278655:E494G;ENSP00000367754:E494G;ENSP00000367762:E494G;ENSP00000390616:E330G	ENSP00000278655:E494G	E	+	2	0	PLCB4	9324236	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	6.049000	0.71053	2.225000	0.72522	0.459000	0.35465	GAG		0.413	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			9	63	0	0	0	0.000673444	0	9	63				
KIF16B	55614	broad.mit.edu	37	20	16493527	16493527	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr20:16493527G>A	ENST00000354981.2	-	5	547	c.390C>T	c.(388-390)ttC>ttT	p.F130F	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.F130F|KIF16B_ENST00000408042.1_Silent_p.F130F	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	130	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTATCCGACTGAAGAGTCCTT	0.463																																							uc002wpg.1		NA																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(388-390)TTC>TTT		kinesin-like motor protein C20orf23							111.0	98.0	103.0					20																	16493527		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16493527G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.390C>T	20.37:g.16493527G>A						KIF16B_uc010gch.1_Silent_p.F130F|KIF16B_uc010gci.1_Silent_p.F130F|KIF16B_uc010gcj.1_Silent_p.F130F	p.F130F	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			5	548	-			130			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.390C>T	CCDS13122.1																																																																																				0.463	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		6	50	0	0	0	8.12818e-05	0	6	50				
CHD6	84181	broad.mit.edu	37	20	40161984	40161984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr20:40161984C>A	ENST00000373233.3	-	3	436	c.259G>T	c.(259-261)Gga>Tga	p.G87*	CHD6_ENST00000373222.3_Nonsense_Mutation_p.G122*|CHD6_ENST00000309279.7_Nonsense_Mutation_p.G87*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	87	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTACCTCCTCCTCCACTGTCC	0.507																																							uc002xka.1		NA																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(259-261)GGA>TGA		chromodomain helicase DNA binding protein 6							131.0	117.0	121.0					20																	40161984		2203	4300	6503	SO:0001587	stop_gained	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40161984C>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.259G>T	20.37:g.40161984C>A	ENSP00000362330:p.Gly87*					CHD6_uc002xkd.2_Nonsense_Mutation_p.G65*|CHD6_uc002xkc.2_Nonsense_Mutation_p.G122*	p.G87*	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			3	437	-		Myeloproliferative disorder(115;0.00425)	87			Poly-Gly.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	c.259G>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	35	5.414987	0.96092	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222;ENST00000440647	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-17.1023	19.6817	0.95967	0.0:1.0:0.0:0.0	.	.	.	.	X	87;87;122;87	.	ENSP00000308684:G87X	G	-	1	0	CHD6	39595398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.564000	0.67359	2.653000	0.90120	0.650000	0.86243	GGA		0.507	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			15	86	1	0	1.05317e-09	0.000219431	6.54331e-09	15	86				
STAU1	6780	broad.mit.edu	37	20	47768130	47768130	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr20:47768130C>A	ENST00000371856.2	-	5	909	c.499G>T	c.(499-501)Gag>Tag	p.E167*	STAU1_ENST00000371828.3_Nonsense_Mutation_p.E86*|STAU1_ENST00000340954.7_Nonsense_Mutation_p.E86*|STAU1_ENST00000371802.1_Nonsense_Mutation_p.E86*|STAU1_ENST00000347458.5_Nonsense_Mutation_p.E86*|STAU1_ENST00000360426.4_Nonsense_Mutation_p.E86*|STAU1_ENST00000371792.1_Nonsense_Mutation_p.E86*	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	167					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCCAGCCTCTCTGGCAGGGGC	0.547																																							uc002xud.2		NA																	0				ovary(4)|kidney(1)	5						c.(499-501)GAG>TAG		staufen isoform b							115.0	103.0	107.0					20																	47768130		2203	4300	6503	SO:0001587	stop_gained	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47768130C>A		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.499G>T	20.37:g.47768130C>A	ENSP00000360922:p.Glu167*					STAU1_uc002xua.2_Nonsense_Mutation_p.E86*|STAU1_uc002xub.2_Nonsense_Mutation_p.E86*|STAU1_uc002xuc.2_Nonsense_Mutation_p.E86*|STAU1_uc002xue.2_Nonsense_Mutation_p.E86*|STAU1_uc002xuf.2_Nonsense_Mutation_p.E86*|STAU1_uc002xug.2_Nonsense_Mutation_p.E167*	p.E167*	NM_017453	NP_059347	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		5	910	-			167					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Nonsense_Mutation	SNP	ENST00000371856.2	37	c.499G>T	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607994	0.87258	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404;ENST00000456866	.	.	.	5.63	5.63	0.86233	.	0.215172	0.48767	D	0.000168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.6276	19.7096	0.96089	0.0:1.0:0.0:0.0	.	.	.	.	X	86;86;167;86;86;86;86;86;86;126	.	ENSP00000345425:E86X	E	-	1	0	STAU1	47201537	1.000000	0.71417	0.958000	0.39756	0.184000	0.23303	4.946000	0.63576	2.652000	0.90054	0.655000	0.94253	GAG		0.547	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		15	77	1	0	1.15088e-07	0.000422831	6.71512e-07	15	77				
ATP9A	10079	broad.mit.edu	37	20	50245520	50245520	+	Splice_Site	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr20:50245520T>A	ENST00000338821.5	-	16	2024	c.1760A>T	c.(1759-1761)gAg>gTg	p.E587V	ATP9A_ENST00000311637.5_Splice_Site_p.E451V|ATP9A_ENST00000402822.1_Splice_Site_p.E466V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	587					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CACACTTACCTCTTCCTCCAA	0.483																																							uc002xwg.1		NA																	0				ovary(4)	4						c.(1759-1761)GAG>GTG		ATPase, class II, type 9A							229.0	186.0	201.0					20																	50245520		2203	4300	6503	SO:0001630	splice_region_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50245520T>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1761+1A>T	20.37:g.50245520T>A						ATP9A_uc010gih.1_Missense_Mutation_p.E451V|ATP9A_uc002xwf.1_Intron	p.E587V	NM_006045	NP_006036	O75110	ATP9A_HUMAN			16	1760	-			587			Cytoplasmic (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1760A>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498916	0.85069	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.68903	-0.36;-0.36;-0.36	5.21	5.21	0.72293	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.052411	0.85682	D	0.000000	T	0.77994	0.4214	L	0.56280	1.765	0.80722	D	1	D;P	0.61080	0.989;0.828	D;P	0.72625	0.978;0.764	T	0.80072	-0.1535	10	0.66056	D	0.02	-37.2572	15.0788	0.72099	0.0:0.0:0.0:1.0	.	466;587	O75110-2;O75110	.;ATP9A_HUMAN	V	451;587;466	ENSP00000309086:E451V;ENSP00000342481:E587V;ENSP00000385875:E466V	ENSP00000309086:E451V	E	-	2	0	ATP9A	49678927	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.835000	0.86780	1.947000	0.56498	0.533000	0.62120	GAG		0.483	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	Missense_Mutation	13	127	0	0	0	0.00185496	0	13	127				
TAF4	6874	broad.mit.edu	37	20	60551268	60551268	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr20:60551268C>G	ENST00000252996.4	-	15	3213	c.3214G>C	c.(3214-3216)Gag>Cag	p.E1072Q		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	1072					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGGCTTGTCTCACGTTCATTT	0.483																																							uc002ybs.2		NA																	0				ovary(2)|pancreas(1)	3						c.(3214-3216)GAG>CAG		TBP-associated factor 4							95.0	95.0	95.0					20																	60551268		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60551268C>G	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.3214G>C	20.37:g.60551268C>G	ENSP00000252996:p.Glu1072Gln						p.E1072Q	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		15	3214	-	Breast(26;1e-08)		1072					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.3214G>C	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974731	0.74360	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.27402	1.68;1.67	5.35	5.35	0.76521	Transcription initiation factor TFIID component TAF4 (1);	0.297911	0.36665	N	0.002470	T	0.47857	0.1468	L	0.49778	1.585	0.50813	D	0.999891	D	0.63880	0.993	D	0.62955	0.909	T	0.18116	-1.0347	10	0.22706	T	0.39	-23.6306	19.0436	0.93011	0.0:1.0:0.0:0.0	.	1072	O00268	TAF4_HUMAN	Q	1072;936	ENSP00000252996:E1072Q;ENSP00000399091:E936Q	ENSP00000252996:E1072Q	E	-	1	0	TAF4	59984663	0.959000	0.32827	0.982000	0.44146	0.971000	0.66376	2.251000	0.43187	2.496000	0.84212	0.655000	0.94253	GAG		0.483	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		10	89	0	0	0	0.000673444	0	10	89				
TCF20	6942	broad.mit.edu	37	22	42610586	42610586	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr22:42610586G>A	ENST00000359486.3	-	1	862	c.726C>T	c.(724-726)tcC>tcT	p.S242S	TCF20_ENST00000335626.4_Silent_p.S242S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	242	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						aggaggaggaggaggaggaAG	0.517																																							uc003bcj.1		NA																	0				ovary(4)|skin(1)	5						c.(724-726)TCC>TCT		transcription factor 20 isoform 1							100.0	86.0	91.0					22																	42610586		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610586G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.726C>T	22.37:g.42610586G>A						TCF20_uc003bck.1_Silent_p.S242S|TCF20_uc003bnt.2_Silent_p.S242S	p.S242S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	860	-			242			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.726C>T	CCDS14033.1																																																																																				0.517	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		10	64	0	0	0	0.000442599	0	10	64				
PACSIN2	11252	broad.mit.edu	37	22	43272321	43272321	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr22:43272321C>T	ENST00000263246.3	-	10	1371	c.1170G>A	c.(1168-1170)aaG>aaA	p.K390K	PACSIN2_ENST00000407585.1_Silent_p.K349K|PACSIN2_ENST00000337959.4_Silent_p.K349K|PACSIN2_ENST00000403744.3_Silent_p.K390K|PACSIN2_ENST00000402229.1_Silent_p.K390K	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	390					actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				AGCTCTGGGTCTTCTCGTAGC	0.627																																							uc010gzg.2		NA																	0					0						c.(1168-1170)AAG>AAA		protein kinase C and casein kinase substrate in							76.0	80.0	79.0					22																	43272321		2068	4217	6285	SO:0001819	synonymous_variant	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43272321C>T	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.1170G>A	22.37:g.43272321C>T						PACSIN2_uc003bdg.3_Silent_p.K390K|PACSIN2_uc003bde.3_Silent_p.K390K|PACSIN2_uc003bdf.3_Silent_p.K349K	p.K390K	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN			10	1392	-		Glioma(61;0.222)	390					O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Silent	SNP	ENST00000263246.3	37	c.1170G>A	CCDS43023.1																																																																																				0.627	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		4	39	0	0	0	0.000602214	0	4	39				
WNT7A	7476	broad.mit.edu	37	3	13916540	13916540	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:13916540T>G	ENST00000285018.4	-	2	506	c.202A>C	c.(202-204)Atg>Ctg	p.M68L	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	68					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCAGGCCCATTTGTGAGCCT	0.587																																							uc003bye.1		NA																	0				ovary(2)|breast(1)	3						c.(202-204)ATG>CTG		wingless-type MMTV integration site family,							63.0	57.0	59.0					3																	13916540		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13916540T>G	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.202A>C	3.37:g.13916540T>G	ENSP00000285018:p.Met68Leu						p.M68L	NM_004625	NP_004616	O00755	WNT7A_HUMAN			2	507	-			68					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.202A>C	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	t	14.70	2.612677	0.46631	.	.	ENSG00000154764	ENST00000285018	T	0.74209	-0.82	5.31	5.31	0.75309	.	0.043710	0.85682	D	0.000000	T	0.46092	0.1375	N	0.01809	-0.71	0.54753	D	0.999981	B	0.06786	0.001	B	0.09377	0.004	T	0.52253	-0.8600	10	0.05351	T	0.99	.	15.2796	0.73770	0.0:0.0:0.0:1.0	.	68	O00755	WNT7A_HUMAN	L	68	ENSP00000285018:M68L	ENSP00000285018:M68L	M	-	1	0	WNT7A	13891541	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.078000	0.50096	2.008000	0.58898	0.529000	0.55759	ATG		0.587	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		4	42	0	0	0	0.00024832	0	4	42				
GALNT15	117248	broad.mit.edu	37	3	16237379	16237379	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:16237379G>T	ENST00000339732.5	+	2	1155	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L	GALNT15_ENST00000437509.1_Missense_Mutation_p.V218L	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	218	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCTCGACACAGTGCCCAGGGC	0.617																																							uc003car.3		NA																	0				breast(1)	1						c.(652-654)GTG>TTG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							93.0	70.0	78.0					3																	16237379		2203	4300	6503	SO:0001583	missense	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16237379G>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.652G>T	3.37:g.16237379G>T	ENSP00000344260:p.Val218Leu					GALNTL2_uc003caq.3_5'UTR	p.V218L	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN			2	1127	+			218			Lumenal (Potential).|Catalytic subdomain A.		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.652G>T	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681570	0.47991	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.58652	0.32;0.32	4.88	4.88	0.63580	Glycosyl transferase, family 2 (1);	0.379769	0.25971	N	0.027133	T	0.44891	0.1315	N	0.21324	0.655	0.09310	N	1	B	0.12013	0.005	B	0.18871	0.023	T	0.47114	-0.9142	10	0.87932	D	0	.	13.0788	0.59100	0.0:0.0:0.8395:0.1605	.	218	Q8N3T1	GLTL2_HUMAN	L	218	ENSP00000344260:V218L;ENSP00000395873:V218L	ENSP00000344260:V218L	V	+	1	0	GALNTL2	16212383	0.196000	0.23350	0.839000	0.33178	0.994000	0.84299	1.863000	0.39459	2.256000	0.74724	0.555000	0.69702	GTG		0.617	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		6	49	1	0	3.59834e-05	0.00116845	0.000199544	6	49				
KCNH8	131096	broad.mit.edu	37	3	19575178	19575178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:19575178C>T	ENST00000328405.2	+	16	3177	c.2911C>T	c.(2911-2913)Caa>Taa	p.Q971*		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	971	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GAGCAGCCCCCAACGAACTGG	0.498																																					NSCLC(124;1625 1765 8018 24930 42026)	NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	0				lung(4)|ovary(1)	5						c.(2911-2913)CAA>TAA		potassium voltage-gated channel, subfamily H,							102.0	102.0	102.0					3																	19575178		2203	4300	6503	SO:0001587	stop_gained	131096					integral to membrane	two-component sensor activity	g.chr3:19575178C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2911C>T	3.37:g.19575178C>T	ENSP00000328813:p.Gln971*					KCNH8_uc010hex.1_Nonsense_Mutation_p.Q432*	p.Q971*	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			16	3106	+			971			Ser-rich.|Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Nonsense_Mutation	SNP	ENST00000328405.2	37	c.2911C>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	40	8.477479	0.98829	.	.	ENSG00000183960	ENST00000328405	.	.	.	5.58	5.58	0.84498	.	0.000000	0.31102	U	0.008260	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5672	0.95398	0.0:1.0:0.0:0.0	.	.	.	.	X	971	.	.	Q	+	1	0	KCNH8	19550182	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.677000	0.68142	2.616000	0.88540	0.655000	0.94253	CAA		0.498	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		19	69	0	0	0	0.000958276	0	19	69				
ARPP21	10777	broad.mit.edu	37	3	35763130	35763130	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:35763130G>A	ENST00000187397.4	+	14	1485	c.1029G>A	c.(1027-1029)ggG>ggA	p.G343G	ARPP21_ENST00000444190.1_Silent_p.G289G|ARPP21_ENST00000337271.5_Silent_p.G289G|ARPP21_ENST00000458225.1_Silent_p.G309G|ARPP21_ENST00000417925.1_Silent_p.G309G	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	343	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GAACATCTGGGAGTCGACAGA	0.537																																							uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(1027-1029)GGG>GGA		cyclic AMP-regulated phosphoprotein, 21 kD							59.0	55.0	57.0					3																	35763130		2203	4300	6503	SO:0001819	synonymous_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35763130G>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1029G>A	3.37:g.35763130G>A						ARPP21_uc003cga.2_Silent_p.G289G|ARPP21_uc011axy.1_Silent_p.G309G|ARPP21_uc003cgf.2_Silent_p.G144G|ARPP21_uc003cgg.2_5'UTR	p.G343G	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			14	1293	+			343			Ser-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.1029G>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538126	0.65085	.	.	ENSG00000172995	ENST00000425289	.	.	.	5.74	1.15	0.20763	.	.	.	.	.	T	0.56321	0.1977	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51180	-0.8738	4	.	.	.	-15.9607	8.9772	0.35944	0.1832:0.1987:0.6181:0.0	.	.	.	.	K	116	.	.	E	+	1	0	ARPP21	35738134	1.000000	0.71417	0.995000	0.50966	0.781000	0.44180	1.811000	0.38942	0.628000	0.30357	-0.355000	0.07637	GAG		0.537	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		4	32	0	0	0	0.000602214	0	4	32				
SCN10A	6336	broad.mit.edu	37	3	38739977	38739977	+	Silent	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:38739977G>T	ENST00000449082.2	-	27	4733	c.4734C>A	c.(4732-4734)gcC>gcA	p.A1578A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1578					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A1578A(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGCCAATTCGGGCCAGGCGGA	0.512																																							uc003ciq.2		NA																	1	Substitution - coding silent(1)		skin(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4732-4734)GCC>GCA		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						80.0	79.0	79.0					3																	38739977		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739977G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4734C>A	3.37:g.38739977G>T							p.A1578A	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4734	-			1578			IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).		A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.4734C>A	CCDS33736.1																																																																																				0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		17	60	1	0	9.16793e-09	0.000566183	5.54205e-08	17	60				
SCN11A	11280	broad.mit.edu	37	3	38889071	38889071	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:38889071A>T	ENST00000302328.3	-	26	4688	c.4490T>A	c.(4489-4491)cTg>cAg	p.L1497Q	SCN11A_ENST00000450244.1_Missense_Mutation_p.L1497Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.L1459Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1497					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATGTTGAACAGAGAAGGAAG	0.473																																							uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4489-4491)CTG>CAG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						86.0	87.0	87.0					3																	38889071		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38889071A>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4490T>A	3.37:g.38889071A>T	ENSP00000307599:p.Leu1497Gln						p.L1497Q	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	4689	-			1497			IV.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4490T>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371952	0.82573	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.99186	-5.53;-5.53;-5.53	5.81	5.81	0.92471	Ion transport (1);	0.071876	0.56097	D	0.000022	D	0.99651	0.9871	H	0.99261	4.49	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.97292	0.9925	10	0.87932	D	0	.	16.1668	0.81768	1.0:0.0:0.0:0.0	.	1497	Q9UI33	SCNBA_HUMAN	Q	1497;1497;1459	ENSP00000307599:L1497Q;ENSP00000400945:L1497Q;ENSP00000416757:L1459Q	ENSP00000307599:L1497Q	L	-	2	0	SCN11A	38864075	1.000000	0.71417	0.526000	0.27913	0.869000	0.49853	9.331000	0.96430	2.220000	0.72140	0.519000	0.50382	CTG		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	32	0	0	0	0.00024832	0	4	32				
ZNF445	353274	broad.mit.edu	37	3	44488255	44488255	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:44488255C>G	ENST00000396077.2	-	8	3255	c.2908G>C	c.(2908-2910)Gac>Cac	p.D970H	ZNF445_ENST00000425708.2_Missense_Mutation_p.D970H	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	970					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ATGCTTATGTCCTGGAGTCCA	0.443																																							uc003cnf.2		NA																	0				ovary(1)	1						c.(2908-2910)GAC>CAC		zinc finger protein 445							144.0	141.0	142.0					3																	44488255		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488255C>G	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2908G>C	3.37:g.44488255C>G	ENSP00000379387:p.Asp970His					ZNF445_uc011azv.1_Missense_Mutation_p.D958H|ZNF445_uc011azw.1_Missense_Mutation_p.D970H	p.D970H	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	8	3256	-			970					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.2908G>C	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	8.848	0.943966	0.18281	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.06608	3.28;3.28	4.38	-5.85	0.02311	.	1.480890	0.04110	N	0.314533	T	0.02807	0.0084	N	0.03608	-0.345	0.09310	N	1	P;P	0.42337	0.65;0.776	B;B	0.29353	0.101;0.101	T	0.43410	-0.9393	10	0.72032	D	0.01	.	15.22	0.73303	0.0:0.7645:0.0:0.2355	.	958;970	B7ZKX2;P59923	.;ZN445_HUMAN	H	970	ENSP00000413073:D970H;ENSP00000379387:D970H	ENSP00000379387:D970H	D	-	1	0	ZNF445	44463259	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.601000	0.02081	-1.208000	0.02634	-0.793000	0.03317	GAC		0.443	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		36	106	0	0	0	0.000692331	0	36	106				
ZKSCAN7	55888	broad.mit.edu	37	3	44612782	44612782	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:44612782C>T	ENST00000273320.3	+	6	2609	c.2180C>T	c.(2179-2181)gCc>gTc	p.A727V	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.A727V	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	727					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)										TGTGGGAAAGCCTTTAGTCAG	0.453																																						Esophageal Squamous(121;907 1626 38429 48584 52774)	uc010hin.2		NA																	0				ovary(2)	2						c.(2179-2181)GCC>GTC		zinc finger protein 167 isoform 1							106.0	102.0	104.0					3																	44612782		2203	4300	6503	SO:0001583	missense	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44612782C>T	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2180C>T	3.37:g.44612782C>T	ENSP00000273320:p.Ala727Val					ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.A727V|ZNF167_uc003cnk.2_Intron	p.A727V	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	6	2568	+			727			C2H2-type 13.		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.2180C>T	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	15.59	2.878296	0.51801	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.19105	2.17;2.17	4.2	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32952	N	0.005442	T	0.32585	0.0834	L	0.50847	1.595	0.80722	D	1	D	0.71674	0.998	D	0.65874	0.939	T	0.01829	-1.1265	10	0.42905	T	0.14	-5.6269	7.7901	0.29114	0.1593:0.5524:0.2883:0.0	.	727	Q9P0L1	ZN167_HUMAN	V	727;727;165	ENSP00000395524:A727V;ENSP00000273320:A727V	ENSP00000273320:A727V	A	+	2	0	ZNF167	44587786	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.179000	0.09768	2.179000	0.69175	0.655000	0.94253	GCC		0.453	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		15	95	0	0	0	0.000308642	0	15	95				
ADAMTS9	56999	broad.mit.edu	37	3	64589620	64589620	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:64589620C>A	ENST00000498707.1	-	25	4067	c.3725G>T	c.(3724-3726)tGg>tTg	p.W1242L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W1214L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1242	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAAGGCCTTCCATTGCCCACA	0.557																																							uc003dmg.2		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(3724-3726)TGG>TTG		ADAM metallopeptidase with thrombospondin type 1							122.0	125.0	124.0					3																	64589620		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64589620C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3725G>T	3.37:g.64589620C>A	ENSP00000418735:p.Trp1242Leu					ADAMTS9_uc011bfo.1_Missense_Mutation_p.W1214L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.W1071L|ADAMTS9_uc011bfp.1_Missense_Mutation_p.W153L	p.W1242L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	25	3757	-		Lung NSC(201;0.00682)	1242			TSP type-1 8.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.3725G>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.901017|4.901017	0.92035|0.92035	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.61158	.|0.13;0.13	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.86159	.|0.5866	H|H	0.98426|0.98426	4.23|4.23	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;1.0	.|D	.|0.91381	.|0.5127	.|10	.|0.87932	.|D	.|0	.|.	18.9748|18.9748	0.92731|0.92731	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1214;1242;1242	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	X|L	298|1214;1242	.|ENSP00000295903:W1214L;ENSP00000418735:W1242L	.|ENSP00000295903:W1214L	G|W	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64564660|64564660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.320000|7.320000	0.79064|0.79064	2.721000|2.721000	0.93114|0.93114	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.557	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			29	72	1	0	1.62565e-12	0.000409698	1.03887e-11	29	72				
C3orf38	285237	broad.mit.edu	37	3	88199160	88199160	+	5'UTR	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:88199160G>T	ENST00000318887.3	+	0	268				CGGBP1_ENST00000462901.1_5'Flank|C3orf38_ENST00000486971.1_5'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38						apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GTGGGCCGTAGGGGCGACATT	0.622																																							uc003dqw.2		NA																	0					0						c.(-45--41)TAGGG>TATGG		hypothetical protein LOC285237							31.0	30.0	30.0					3																	88199160		2203	4299	6502	SO:0001623	5_prime_UTR_variant	285237				apoptosis			g.chr3:88199160G>T	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.-43G>T	3.37:g.88199160G>T						CGGBP1_uc003dqu.2_5'Flank		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	268	+		Lung NSC(201;0.17)						B2R8X6|Q8TC85	Translation_Start_Site	SNP	ENST00000318887.3	37	c.-43G>T	CCDS2921.2																																																																																				0.622	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		7	20	1	0	5.18039e-06	0.000157383	2.9458e-05	7	20				
EPHA6	285220	broad.mit.edu	37	3	97311539	97311539	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:97311539C>A	ENST00000514100.1	+	9	888	c.646C>A	c.(646-648)Cca>Aca	p.P216T	EPHA6_ENST00000502694.1_Missense_Mutation_p.P216T|EPHA6_ENST00000389672.5_Missense_Mutation_p.P824T|EPHA6_ENST00000442602.2_Missense_Mutation_p.P190T	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	730						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.P730S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGCCCCGCATCCAGTGCCAGG	0.517																																							uc010how.1		NA																	1	Substitution - Missense(1)		ovary(1)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2470-2472)CCA>ACA		EPH receptor A6 isoform a							44.0	46.0	45.0					3																	97311539		1841	4082	5923	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97311539C>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.646C>A	3.37:g.97311539C>A	ENSP00000421711:p.Pro216Thr					EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.P190T|EPHA6_uc003drs.3_Missense_Mutation_p.P216T|EPHA6_uc003drr.3_Missense_Mutation_p.P216T|EPHA6_uc003drt.2_Missense_Mutation_p.P216T|EPHA6_uc010hox.1_Intron	p.P824T	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			12	2513	+			729			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2470C>A		.	.	.	.	.	.	.	.	.	.	C	17.87	3.495615	0.64186	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;D;T;T	0.82255	-0.84;-1.59;-1.34;0.31	6.16	6.16	0.99307	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87724	0.6249	L	0.34521	1.04	0.39852	D	0.973256	D;D;D;D	0.89917	0.998;0.998;1.0;1.0	D;D;D;D	0.83275	0.981;0.981;0.996;0.996	D	0.88279	0.2935	9	0.66056	D	0.02	.	19.0404	0.92997	0.0:1.0:0.0:0.0	.	190;729;216;216	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	T	824;216;216;190	ENSP00000374323:P824T;ENSP00000421711:P216T;ENSP00000423950:P216T;ENSP00000403100:P190T	ENSP00000374323:P824T	P	+	1	0	EPHA6	98794229	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.744000	0.62118	2.937000	0.99478	0.650000	0.86243	CCA		0.517	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		11	21	1	0	7.03913e-09	0.00136819	4.27444e-08	11	21				
MYH15	22989	broad.mit.edu	37	3	108211363	108211363	+	Silent	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:108211363T>C	ENST00000273353.3	-	10	971	c.915A>G	c.(913-915)ggA>ggG	p.G305G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	305	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTCTTTTTGTCCAGATAGAA	0.378																																							uc003dxa.1		NA																	0				ovary(5)|central_nervous_system(2)	7						c.(913-915)GGA>GGG		myosin, heavy polypeptide 15							104.0	95.0	98.0					3																	108211363		1821	4086	5907	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108211363T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.915A>G	3.37:g.108211363T>C							p.G305G	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			10	972	-			305			Myosin head-like.			Silent	SNP	ENST00000273353.3	37	c.915A>G	CCDS43127.1																																																																																				0.378	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		10	24	0	0	0	0.000442599	0	10	24				
GTF2E1	2960	broad.mit.edu	37	3	120489623	120489623	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:120489623C>T	ENST00000283875.5	+	3	590	c.497C>T	c.(496-498)tCa>tTa	p.S166L		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	166					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GAGGATGAATCAGCAATGCCC	0.418																																							uc003edz.3		NA																	0				ovary(1)	1						c.(496-498)TCA>TTA		general transcription factor IIE, polypeptide 1,							169.0	163.0	165.0					3																	120489623		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120489623C>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.497C>T	3.37:g.120489623C>T	ENSP00000283875:p.Ser166Leu						p.S166L	NM_005513	NP_005504	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	3	611	+			166					Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.497C>T	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414283	0.83449	.	.	ENSG00000153767	ENST00000283875	T	0.47528	0.84	5.91	5.91	0.95273	Zinc finger, TFIIB-type (1);Zinc finger, RING/FYVE/PHD-type (1);	0.124468	0.56097	D	0.000023	T	0.53417	0.1795	L	0.52823	1.66	0.80722	D	1	B	0.19445	0.036	B	0.34418	0.182	T	0.49753	-0.8906	10	0.56958	D	0.05	-18.7024	19.2845	0.94065	0.0:1.0:0.0:0.0	.	166	P29083	T2EA_HUMAN	L	166	ENSP00000283875:S166L	ENSP00000283875:S166L	S	+	2	0	GTF2E1	121972313	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	TCA		0.418	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		17	156	0	0	0	0.00074312	0	17	156				
STXBP5L	9515	broad.mit.edu	37	3	120876378	120876378	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:120876378G>A	ENST00000273666.6	+	9	1052	c.781G>A	c.(781-783)Gag>Aag	p.E261K	STXBP5L_ENST00000472879.1_Missense_Mutation_p.E261K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E261K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E261K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E261K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	261					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTGGCATCATGAGGGCAAACA	0.373																																							uc003eec.3		NA																	0				ovary(7)|skin(2)	9						c.(781-783)GAG>AAG		syntaxin binding protein 5-like							107.0	95.0	99.0					3																	120876378		1852	4105	5957	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120876378G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.781G>A	3.37:g.120876378G>A	ENSP00000273666:p.Glu261Lys					STXBP5L_uc011bji.1_Missense_Mutation_p.E261K	p.E261K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	9	921	+			261			WD 5.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.781G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504954	0.96371	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.54071	0.59;1.6;0.59;0.59;1.6;1.6	5.45	5.45	0.79879	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	0.74007	0.3660	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.74948	-0.3490	10	0.52906	T	0.07	-21.287	18.4677	0.90761	0.0:0.0:1.0:0.0	.	261;261	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	K	261	ENSP00000273666:E261K;ENSP00000420019:E261K;ENSP00000419627:E261K;ENSP00000420287:E261K;ENSP00000420666:E261K;ENSP00000420167:E261K	ENSP00000273666:E261K	E	+	1	0	STXBP5L	122359068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.076000	0.94009	2.729000	0.93468	0.558000	0.71614	GAG		0.373	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			7	29	0	0	0	8.12818e-05	0	7	29				
PLSCR1	5359	broad.mit.edu	37	3	146246609	146246609	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:146246609C>A	ENST00000342435.4	-	4	514	c.104G>T	c.(103-105)gGa>gTa	p.G35V	PLSCR1_ENST00000487389.1_Missense_Mutation_p.G28V|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	35	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GCCACTATATCCTGGAGGTCC	0.498																																							uc003evx.3		NA																	0				ovary(2)	2						c.(103-105)GGA>GTA		phospholipid scramblase 1							19.0	25.0	23.0					3																	146246609		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146246609C>A	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.104G>T	3.37:g.146246609C>A	ENSP00000345494:p.Gly35Val					PLSCR1_uc003evy.3_Missense_Mutation_p.G28V|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_Missense_Mutation_p.G35V	p.G35V	NM_021105	NP_066928	O15162	PLS1_HUMAN			4	492	-			35			Cytoplasmic.|WW-binding 2 (Potential).		B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.104G>T	CCDS3135.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423396	0.43020	.	.	ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000462666;ENST00000472349	T;T;T;T	0.24908	2.16;2.16;2.05;1.83	2.99	1.15	0.20763	.	.	.	.	.	T	0.40694	0.1127	M	0.66297	2.02	0.09310	N	1	D;D	0.89917	1.0;0.994	D;P	0.74674	0.984;0.81	T	0.19484	-1.0304	9	0.27082	T	0.32	.	5.6035	0.17367	0.0:0.6282:0.1648:0.207	.	35;35	Q8WVK1;O15162	.;PLS1_HUMAN	V	35;28;35;35	ENSP00000345494:G35V;ENSP00000417792:G28V;ENSP00000418103:G35V;ENSP00000420523:G35V	ENSP00000345494:G35V	G	-	2	0	PLSCR1	147729299	0.005000	0.15991	0.207000	0.23584	0.424000	0.31475	0.214000	0.17541	0.302000	0.22762	0.484000	0.47621	GGA		0.498	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		8	28	1	0	1.76689e-08	0.000442599	1.05385e-07	8	28				
SSR3	6747	broad.mit.edu	37	3	156272859	156272859	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:156272859G>A	ENST00000265044.2	-	1	114	c.20C>T	c.(19-21)tCc>tTc	p.S7F	SSR3_ENST00000476217.1_Missense_Mutation_p.S7F|SSR3_ENST00000467789.1_Missense_Mutation_p.S7F|SSR3_ENST00000463503.1_5'Flank|SSR3_ENST00000496050.1_5'Flank	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	7					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)				endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTGCTGTTTGGAGCTGCCTTT	0.632																																							uc003fau.2		NA																	0					0						c.(19-21)TCC>TTC		signal sequence receptor gamma subunit							56.0	56.0	56.0					3																	156272859		2203	4300	6503	SO:0001583	missense	6747				cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding	g.chr3:156272859G>A	BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.20C>T	3.37:g.156272859G>A	ENSP00000265044:p.Ser7Phe					SSR3_uc011bop.1_Missense_Mutation_p.S7F	p.S7F	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	77	-			7			Lumenal (Potential).		B2R7D0|B4E2P2|D3DNK5|Q549M4	Missense_Mutation	SNP	ENST00000265044.2	37	c.20C>T	CCDS3176.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452546	0.43531	.	.	ENSG00000114850	ENST00000265044;ENST00000467789;ENST00000476217	.	.	.	4.87	2.12	0.27331	.	0.802256	0.11741	N	0.534004	T	0.34687	0.0906	N	0.14661	0.345	0.80722	D	1	B;B	0.33379	0.396;0.41	B;B	0.38712	0.082;0.28	T	0.27123	-1.0083	9	0.66056	D	0.02	-0.8958	3.202	0.06652	0.1578:0.1404:0.557:0.1448	.	7;7	B4E2P2;Q9UNL2	.;SSRG_HUMAN	F	7	.	ENSP00000265044:S7F	S	-	2	0	SSR3	157755553	1.000000	0.71417	0.937000	0.37676	0.810000	0.45777	0.855000	0.27805	0.771000	0.33359	-0.133000	0.14855	TCC		0.632	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351521.1	NM_007107		6	47	0	0	0	8.12818e-05	0	6	47				
MUC4	4585	broad.mit.edu	37	3	195498624	195498625	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:195498624_195498625GG>AC	ENST00000346145.4	-	4	471_472	c.432_433CC>GT	c.(430-435)aaCCca>aaGTca	p.144_145NP>KS	MUC4_ENST00000349607.4_Missense_Mutation_p.93_94NP>KS|MUC4_ENST00000463781.3_Missense_Mutation_p.4380_4381NP>KS|MUC4_ENST00000475231.1_Missense_Mutation_p.4380_4381NP>KS	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1137					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTTGGGAGTGGGTTGGGGTAGG	0.559																																							uc011bto.1		NA																	0					0						c.(12754-12759)AACCCA>AAGTCA		mucin 4 isoform a																																				SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195498624_195498625GG>AC	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.432_433delinsAC	3.37:g.195498624_195498625delinsAC	ENSP00000304207:p.N144_P145delinsKS					MUC4_uc003fuz.2_Missense_Mutation_p.T60S|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Missense_Mutation_p.121_122NP>KS|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Missense_Mutation_p.121_122NP>KS|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Missense_Mutation_p.144_145NP>KS|MUC4_uc003fvp.2_Missense_Mutation_p.93_94NP>KS|MUC4_uc010hzu.1_Missense_Mutation_p.992_993NP>KS	p.4252_4253NP>KS	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	6	13216_13217	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1137_1138					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	DNP	ENST00000346145.4	37	c.12756_12757CC>GT	CCDS3310.1																																																																																				0.559	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		6	59	0	0	0	6.4e-05	0	6	59				
DEFB131	644414	broad.mit.edu	37	4	9452085	9452085	+	Splice_Site	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:9452085G>A	ENST00000334879.1	+	2	58		c.e2-1			NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				lung(2)	2						TCTTTTTAAAGCCAGAAGCTT	0.279																																							uc011bwt.1		NA																	0					0						c.e2-1		defensin, beta 131 precursor							35.0	29.0	31.0					4																	9452085		1811	4066	5877	SO:0001630	splice_region_variant	644414				defense response to bacterium	extracellular region		g.chr4:9452085G>A	AF529414	CCDS43213.1	4p16.1	2010-03-30			ENSG00000186146	ENSG00000186146		"""Defensins, beta"""	18108	protein-coding gene	gene with protein product						11854508, 16033865, 12600824	Standard	NM_001040448		Approved	DEFB-31	uc011bwt.2	P59861	OTTHUMG00000160187	ENST00000334879.1:c.59-1G>A	4.37:g.9452085G>A							p.A20_splice	NM_001040448	NP_001035538	P59861	DB131_HUMAN			2	59	+									Splice_Site	SNP	ENST00000334879.1	37	c.59_splice	CCDS43213.1	.	.	.	.	.	.	.	.	.	.	.	6.849	0.525959	0.13066	.	.	ENSG00000186146	ENST00000334879	.	.	.	0.42	0.42	0.16444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6378	0.22893	2.0E-4:0.0:0.9998:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEFB131	9061183	0.031000	0.19500	0.592000	0.28758	0.187000	0.23431	0.137000	0.15995	0.463000	0.27118	0.162000	0.16502	.		0.279	DEFB131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359607.1	NM_001040448	Intron	12	11	0	0	0	0.000978159	0	12	11				
ZNF518B	85460	broad.mit.edu	37	4	10445956	10445956	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:10445956C>T	ENST00000326756.3	-	3	2435	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	666					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TATCTTTCTGCGCAACAGTTC	0.443																																							uc003gmn.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1996-1998)CGC>CAC		zinc finger protein 518B							120.0	122.0	122.0					4																	10445956		2203	4299	6502	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445956C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1997G>A	4.37:g.10445956C>T	ENSP00000317614:p.Arg666His						p.R666H	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	2484	-			666					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.1997G>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032385	0.54790	.	.	ENSG00000178163	ENST00000326756	T	0.01647	4.71	6.17	5.17	0.71159	.	0.419059	0.23386	N	0.048745	T	0.01627	0.0052	L	0.36672	1.1	0.30914	N	0.728736	P	0.47910	0.902	B	0.31101	0.124	T	0.48422	-0.9037	10	0.40728	T	0.16	-10.9199	13.713	0.62680	0.0:0.9178:0.0:0.0822	.	666	Q9C0D4	Z518B_HUMAN	H	666	ENSP00000317614:R666H	ENSP00000317614:R666H	R	-	2	0	ZNF518B	10055054	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.158000	0.50723	2.941000	0.99782	0.655000	0.94253	CGC		0.443	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		34	71	0	0	0	0.00111076	0	34	71				
SLC34A2	10568	broad.mit.edu	37	4	25674767	25674767	+	Silent	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:25674767C>G	ENST00000382051.3	+	10	1157	c.1107C>G	c.(1105-1107)ctC>ctG	p.L369L	SLC34A2_ENST00000504570.1_Silent_p.L368L|SLC34A2_ENST00000503434.1_Silent_p.L368L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	369					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCATCTTGCTCATACTCTCCC	0.527			T	ROS1	NSCLC																																		uc003grr.2		NA		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					0				skin(3)|ovary(1)|kidney(1)	5						c.(1105-1107)CTC>CTG		solute carrier family 34 (sodium phosphate),							215.0	187.0	197.0					4																	25674767		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25674767C>G	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1107C>G	4.37:g.25674767C>G						SLC34A2_uc003grs.2_Silent_p.L368L|SLC34A2_uc010iev.2_Silent_p.L368L	p.L369L	NM_006424	NP_006415	O95436	NPT2B_HUMAN			10	1188	+		Breast(46;0.0503)	369			Helical; Name=M4; (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1107C>G	CCDS3435.1																																																																																				0.527	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		10	106	0	0	0	0.000673444	0	10	106				
PCDH7	5099	broad.mit.edu	37	4	30726045	30726045	+	Missense_Mutation	SNP	C	C	T	rs202059640		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:30726045C>T	ENST00000361762.2	+	1	4009	c.3001C>T	c.(3001-3003)Cca>Tca	p.P1001S	PCDH7_ENST00000543491.1_Missense_Mutation_p.P1001S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1001					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCTAGTTCCCCATTGCCTAC	0.532																																							uc003gsk.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(3001-3003)CCA>TCA		protocadherin 7 isoform a precursor							95.0	95.0	95.0					4																	30726045		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30726045C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.3001C>T	4.37:g.30726045C>T	ENSP00000355243:p.Pro1001Ser					PCDH7_uc011bxw.1_Missense_Mutation_p.P954S|PCDH7_uc011bxx.1_Missense_Mutation_p.P1001S	p.P1001S	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	4009	+			1001			Cytoplasmic (Potential).		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.3001C>T	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.680492|3.680492	0.68042|0.68042	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.60040	.|0.22;0.22	5.08|5.08	5.08|5.08	0.68730|0.68730	.|Protocadherin (1);	.|.	.|.	.|.	.|.	T|T	0.77685|0.77685	0.4167|0.4167	M|M	0.79011|0.79011	2.435|2.435	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.996;1.0	T|T	0.80434|0.80434	-0.1384|-0.1384	5|9	.|0.87932	.|D	.|0	.|.	18.6577|18.6577	0.91460|0.91460	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1001;954;1001	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	L|S	690|1001;1001;954	.|ENSP00000355243:P1001S;ENSP00000441802:P1001S	.|ENSP00000330302:P954S	P|P	+|+	2|1	0|0	PCDH7|PCDH7	30335143|30335143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.320000|7.320000	0.79064|0.79064	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	CCC|CCA		0.532	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		9	43	0	0	0	0.000442599	0	9	43				
KIAA1109	84162	broad.mit.edu	37	4	123269788	123269788	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:123269788C>T	ENST00000264501.4	+	77	13569	c.13196C>T	c.(13195-13197)cCa>cTa	p.P4399L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4399L			Q2LD37	K1109_HUMAN	KIAA1109	4399					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAAGGGACCCCATGGGAAACA	0.328																																							uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(13195-13197)CCA>CTA		fragile site-associated protein							67.0	65.0	65.0					4																	123269788		1831	4080	5911	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123269788C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13196C>T	4.37:g.123269788C>T	ENSP00000264501:p.Pro4399Leu					KIAA1109_uc003iem.2_Missense_Mutation_p.P755L	p.P4399L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			75	13241	+			4399					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.13196C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.647165|4.647165	0.87958|0.87958	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.49139	.|0.79;0.79;0.79	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Fragile site-associated protein, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65123|0.65123	0.2661|0.2661	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	T|T	0.64757|0.64757	-0.6332|-0.6332	5|10	.|0.59425	.|D	.|0.04	.|.	19.6996|19.6996	0.96048|0.96048	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4398;4399	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	Y|L	775|4399;4399;1068	.|ENSP00000264501:P4399L;ENSP00000373390:P4399L;ENSP00000410874:P1068L	.|ENSP00000264501:P4399L	H|P	+|+	1|2	0|0	KIAA1109|KIAA1109	123489238|123489238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	CAT|CCA		0.328	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		14	33	0	0	0	0.00185496	0	14	33				
FAT1	2195	broad.mit.edu	37	4	187521447	187521447	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:187521447C>G	ENST00000441802.2	-	22	11917	c.11708G>C	c.(11707-11709)aGc>aCc	p.S3903T	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3903	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GACCTGAATGCTCTGAACAGA	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(11707-11709)AGC>ACC		FAT tumor suppressor 1 precursor							45.0	43.0	44.0					4																	187521447		1995	4165	6160	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187521447C>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11708G>C	4.37:g.187521447C>G	ENSP00000406229:p.Ser3903Thr	HNSCC(5;0.00058)					p.S3903T	NM_005245	NP_005236	Q14517	FAT1_HUMAN			22	11896	-			3903			Extracellular (Potential).|Laminin G-like.			Missense_Mutation	SNP	ENST00000441802.2	37	c.11708G>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421212	0.83559	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.69040	-0.37	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	L	0.54965	1.715	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71547	-0.4560	10	0.19590	T	0.45	.	18.7161	0.91677	0.0:1.0:0.0:0.0	.	3903	Q14517	FAT1_HUMAN	T	3903;3905	ENSP00000406229:S3903T	ENSP00000260147:S3905T	S	-	2	0	FAT1	187758441	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.191000	0.77763	2.726000	0.93360	0.655000	0.94253	AGC		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	19	0	0	0	0.000157383	0	7	19				
DNAH5	1767	broad.mit.edu	37	5	13700752	13700752	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:13700752T>G	ENST00000265104.4	-	78	13824	c.13720A>C	c.(13720-13722)Aat>Cat	p.N4574H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4574					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACTTACTATTGTTTTCTGCA	0.383									Kartagener syndrome																														uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(13720-13722)AAT>CAT		dynein, axonemal, heavy chain 5							145.0	140.0	142.0					5																	13700752		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13700752T>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13720A>C	5.37:g.13700752T>G	ENSP00000265104:p.Asn4574His					DNAH5_uc003jfc.2_Missense_Mutation_p.N742H	p.N4574H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			78	13762	-	Lung NSC(4;0.00476)		4574					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13720A>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252997	0.80135	.	.	ENSG00000039139	ENST00000265104	T	0.08546	3.08	5.95	5.95	0.96441	Dynein heavy chain (1);	0.154860	0.56097	D	0.000029	T	0.12860	0.0312	N	0.13327	0.33	0.58432	D	0.999996	B	0.33266	0.404	P	0.49637	0.617	T	0.42632	-0.9440	10	0.35671	T	0.21	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	4574	Q8TE73	DYH5_HUMAN	H	4574	ENSP00000265104:N4574H	ENSP00000265104:N4574H	N	-	1	0	DNAH5	13753752	1.000000	0.71417	0.968000	0.41197	0.811000	0.45836	6.070000	0.71220	2.281000	0.76405	0.528000	0.53228	AAT		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		30	104	0	0	0	0.001512	0	30	104				
C7	730	broad.mit.edu	37	5	40958281	40958281	+	Missense_Mutation	SNP	G	G	T	rs531427544		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:40958281G>T	ENST00000313164.9	+	11	1766	c.1407G>T	c.(1405-1407)gaG>gaT	p.E469D		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	469	EGF-like.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				CTACTGTTGAGGGGACCCATT	0.483																																							uc003jmh.2		NA																	0					0						c.(1405-1407)GAG>GAT		complement component 7 precursor							150.0	146.0	147.0					5																	40958281		1970	4149	6119	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40958281G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1407G>T	5.37:g.40958281G>T	ENSP00000322061:p.Glu469Asp					C7_uc011cpn.1_RNA	p.E469D	NM_000587	NP_000578	P10643	CO7_HUMAN			11	1521	+		Ovarian(839;0.0112)	469			EGF-like.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1407G>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	4.167	0.029587	0.08054	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.63255	-0.03	5.87	2.03	0.26663	.	1.212960	0.05637	N	0.582756	T	0.43986	0.1272	L	0.31526	0.94	0.09310	N	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.18304	-1.0341	10	0.13470	T	0.59	0.138	1.2316	0.01944	0.2769:0.2568:0.3345:0.1318	.	469	P10643	CO7_HUMAN	D	469;309	ENSP00000322061:E469D	ENSP00000322061:E469D	E	+	3	2	C7	40994038	0.016000	0.18221	0.146000	0.22360	0.554000	0.35429	0.153000	0.16323	0.085000	0.17107	0.655000	0.94253	GAG		0.483	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			36	67	1	0	1.36161e-19	0.000814825	9.00141e-19	36	67				
C6	729	broad.mit.edu	37	5	41203279	41203279	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:41203279C>A	ENST00000263413.3	-	2	318	c.54G>T	c.(52-54)aaG>aaT	p.K18N	C6_ENST00000337836.5_Missense_Mutation_p.K18N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	18					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGCTTGGCCCTTGTTGATCA	0.493																																							uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(52-54)AAG>AAT		complement component 6 precursor							162.0	152.0	155.0					5																	41203279		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41203279C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.54G>T	5.37:g.41203279C>A	ENSP00000263413:p.Lys18Asn					C6_uc003jml.1_Missense_Mutation_p.K18N	p.K18N	NM_000065	NP_000056	P13671	CO6_HUMAN			2	264	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	18						Missense_Mutation	SNP	ENST00000263413.3	37	c.54G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	8.652	0.898571	0.17686	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809;ENST00000433294	T;T;T	0.60548	0.18;0.18;1.75	5.92	1.92	0.25849	.	0.709554	0.14729	N	0.301892	T	0.40297	0.1111	L	0.46157	1.445	0.09310	N	1	P	0.35656	0.514	B	0.29716	0.106	T	0.15780	-1.0425	10	0.23891	T	0.37	-3.407	3.7624	0.08609	0.1197:0.5322:0.2017:0.1464	.	18	P13671	CO6_HUMAN	N	18	ENSP00000338861:K18N;ENSP00000263413:K18N;ENSP00000396565:K18N	ENSP00000263413:K18N	K	-	3	2	C6	41239036	0.004000	0.15560	0.047000	0.18901	0.822000	0.46500	0.302000	0.19192	0.385000	0.24970	0.585000	0.79938	AAG		0.493	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			60	161	1	0	5.82218e-30	0.000781405	3.92631e-29	60	161				
MCTP1	79772	broad.mit.edu	37	5	94224613	94224613	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:94224613G>A	ENST00000515393.1	-	12	1903	c.1904C>T	c.(1903-1905)gCg>gTg	p.A635V	MCTP1_ENST00000505078.1_Missense_Mutation_p.A151V|MCTP1_ENST00000505208.1_Missense_Mutation_p.A414V|MCTP1_ENST00000429576.2_Missense_Mutation_p.A368V|MCTP1_ENST00000312216.8_Missense_Mutation_p.A414V	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	635	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TAACCCTTCCGCTCTGATGAC	0.443																																							uc003kkx.2		NA																	0				ovary(2)	2						c.(1903-1905)GCG>GTG		multiple C2 domains, transmembrane 1 isoform L							109.0	108.0	108.0					5																	94224613		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94224613G>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1904C>T	5.37:g.94224613G>A	ENSP00000424126:p.Ala635Val					MCTP1_uc003kkv.2_Missense_Mutation_p.A414V|MCTP1_uc003kkw.2_Missense_Mutation_p.A368V|MCTP1_uc003kkz.2_Missense_Mutation_p.A296V|MCTP1_uc003kku.2_Missense_Mutation_p.A151V	p.A635V	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	12	1904	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	635			C2 3.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.1904C>T	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	35	5.547177	0.96488	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568	T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	H	0.97806	4.08	0.80722	D	1	D;P;D	0.63046	0.992;0.846;0.99	P;B;P	0.51657	0.638;0.297;0.676	D	0.94477	0.7690	10	0.87932	D	0	-14.0663	19.6915	0.96002	0.0:0.0:1.0:0.0	.	635;368;414	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	V	635;368;151;414;355;296;414;236	ENSP00000424126:A635V;ENSP00000391639:A368V;ENSP00000426417:A151V;ENSP00000308957:A414V;ENSP00000423410:A355V;ENSP00000431075:A296V;ENSP00000426438:A414V;ENSP00000426294:A236V	ENSP00000308957:A414V	A	-	2	0	MCTP1	94250369	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.191000	0.94940	2.824000	0.97209	0.655000	0.94253	GCG		0.443	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		10	77	0	0	0	0.000308642	0	10	77				
FER	2241	broad.mit.edu	37	5	108203572	108203572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:108203572C>T	ENST00000281092.4	+	6	970	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	FER_ENST00000536402.1_Nonsense_Mutation_p.Q196*|FER_ENST00000438717.2_Nonsense_Mutation_p.Q21*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	196	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ACAGCTCCATCAGAATCAGTA	0.388																																					Colon(146;1051 1799 9836 27344 47401)	Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NA																	0				lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(586-588)CAG>TAG		fer (fps/fes related) tyrosine kinase							161.0	129.0	140.0					5																	108203572		2202	4300	6502	SO:0001587	stop_gained	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108203572C>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.586C>T	5.37:g.108203572C>T	ENSP00000281092:p.Gln196*					FER_uc011cve.1_Nonsense_Mutation_p.Q136*|FER_uc011cvf.1_RNA|FER_uc011cvg.1_Nonsense_Mutation_p.Q21*	p.Q196*	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	6	970	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	196			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Nonsense_Mutation	SNP	ENST00000281092.4	37	c.586C>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	40	7.935275	0.98568	.	.	ENSG00000151422	ENST00000281092;ENST00000536402;ENST00000438717	.	.	.	5.53	5.53	0.82687	.	0.051799	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-12.9174	19.8293	0.96628	0.0:1.0:0.0:0.0	.	.	.	.	X	196;196;21	.	ENSP00000281092:Q196X	Q	+	1	0	FER	108231471	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.319000	0.79040	2.749000	0.94314	0.655000	0.94253	CAG		0.388	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		8	25	0	0	0	0.000157383	0	8	25				
MAN2A1	4124	broad.mit.edu	37	5	109124722	109124722	+	Silent	SNP	T	T	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:109124722T>G	ENST00000261483.4	+	11	2900	c.1848T>G	c.(1846-1848)tcT>tcG	p.S616S		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	616					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CATACGACTCTTACTCTCCTG	0.333																																							uc003kou.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1846-1848)TCT>TCG		mannosidase, alpha, class 2A, member 1							112.0	113.0	113.0					5																	109124722		2202	4298	6500	SO:0001819	synonymous_variant	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109124722T>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1848T>G	5.37:g.109124722T>G							p.S616S	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	11	2811	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	616			Lumenal (Potential).		Q16767	Silent	SNP	ENST00000261483.4	37	c.1848T>G	CCDS34209.1																																																																																				0.333	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			6	69	0	0	0	0.000673444	0	6	69				
RAPGEF6	51735	broad.mit.edu	37	5	130797726	130797726	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:130797726G>C	ENST00000509018.1	-	19	2741	c.2536C>G	c.(2536-2538)Caa>Gaa	p.Q846E	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.Q846E|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.Q896E|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.Q561E|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.Q851E|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.Q846E|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.Q846E	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	846					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ACTAGTTCTTGAGCATCTTCA	0.338																																					Melanoma(168;435 1955 13113 13877 23213)	Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(2536-2538)CAA>GAA		PDZ domain-containing guanine nucleotide							67.0	67.0	67.0					5																	130797726		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130797726G>C	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2536C>G	5.37:g.130797726G>C	ENSP00000421684:p.Gln846Glu					RAPGEF6_uc003kvp.1_Missense_Mutation_p.Q896E|RAPGEF6_uc003kvo.1_Missense_Mutation_p.Q851E|RAPGEF6_uc010jdi.1_Missense_Mutation_p.Q846E|RAPGEF6_uc010jdj.1_Missense_Mutation_p.Q846E|RAPGEF6_uc003kvq.2_Missense_Mutation_p.Q563E|RAPGEF6_uc003kvr.2_Missense_Mutation_p.Q846E|RAPGEF6_uc011cxe.1_RNA	p.Q846E	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	19	2742	-			846					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.2536C>G	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643646	0.67244	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.69	5.69	0.88448	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	N	0.22421	0.69	0.80722	D	1	D;B;D;D;D;D;P	0.67145	0.996;0.23;0.987;0.978;0.996;0.987;0.903	P;B;P;P;P;P;P	0.61201	0.823;0.129;0.885;0.688;0.823;0.835;0.593	T	0.14839	-1.0458	10	0.40728	T	0.16	.	19.8146	0.96562	0.0:0.0:1.0:0.0	.	846;846;846;561;896;851;846	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	E	846;851;846;846;851;561;846;896	ENSP00000421684:Q846E;ENSP00000309298:Q851E;ENSP00000426081:Q846E;ENSP00000296859:Q846E;ENSP00000426910:Q561E;ENSP00000311419:Q846E;ENSP00000426948:Q896E	ENSP00000426948:Q896E	Q	-	1	0	RAPGEF6;FNIP1	130825625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.682000	0.91365	0.655000	0.94253	CAA		0.338	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		5	35	0	0	0	0.000602214	0	5	35				
PCDHA3	56145	broad.mit.edu	37	5	140182124	140182124	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:140182124G>A	ENST00000522353.2	+	1	1342	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	PCDHA3_ENST00000532566.2_Missense_Mutation_p.V448M|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	448	Cadherin 4. {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(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCCGACGTGAACGACAA	0.662																																							uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(1342-1344)GTG>ATG		protocadherin alpha 3 isoform 1 precursor							99.0	100.0	100.0					5																	140182124		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182124G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1342G>A	5.37:g.140182124G>A	ENSP00000429808:p.Val448Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.V448M	p.V448M	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1342	+			448			Cadherin 4.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1342G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.368027	0.82463	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.63744	-0.06;-0.06	4.75	4.75	0.60458	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.37623	U	0.002010	D	0.83119	0.5185	M	0.91140	3.18	0.42346	D	0.992358	D;D	0.89917	1.0;0.999	D;D	0.69142	0.962;0.953	D	0.87772	0.2606	10	0.72032	D	0.01	.	18.1666	0.89729	0.0:0.0:1.0:0.0	.	448;448	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	M	448	ENSP00000429808:V448M;ENSP00000434086:V448M	ENSP00000429808:V448M	V	+	1	0	PCDHA3	140162308	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.602000	0.61098	2.374000	0.81015	0.461000	0.40582	GTG		0.662	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		15	140	0	0	0	0.000308642	0	15	140				
PCDHA9	9752	broad.mit.edu	37	5	140230156	140230156	+	Silent	SNP	G	G	T	rs549105939		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:140230156G>T	ENST00000532602.1	+	1	3109	c.2076G>T	c.(2074-2076)acG>acT	p.T692T	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.T692T|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	692					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGGTGACGCTGGTGGATG	0.652													.|||	1	0.000199681	0.0	0.0	5008	,	,		13869	0.001		0.0	False		,,,				2504	0.0				Melanoma(55;1800 1972 14909)	Melanoma(55;1800 1972 14909)	uc003lhu.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(2074-2076)ACG>ACT		protocadherin alpha 9 isoform 1 precursor							65.0	61.0	63.0					5																	140230156		2196	4272	6468	SO:0001819	synonymous_variant	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140230156G>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2076G>T	5.37:g.140230156G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.T692T	p.T692T	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2800	+			692			Extracellular (Potential).		O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.2076G>T	CCDS54920.1																																																																																				0.652	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		9	76	1	0	5.4927e-09	0.000274275	3.36585e-08	9	76				
PCDHB16	57717	broad.mit.edu	37	5	140564076	140564076	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:140564076G>T	ENST00000361016.2	+	1	3097	c.1942G>T	c.(1942-1944)Ggc>Tgc	p.G648C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	648	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGGACAATGGCGAGCCTCC	0.711																																							uc003liv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1942-1944)GGC>TGC		protocadherin beta 16 precursor							18.0	20.0	19.0					5																	140564076		2061	4104	6165	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564076G>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1942G>T	5.37:g.140564076G>T	ENSP00000354293:p.Gly648Cys					PCDHB9_uc003liw.1_5'Flank	p.G648C	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3097	+			648			Cadherin 6.|Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1942G>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.089693	0.76756	.	.	ENSG00000196963	ENST00000361016	T	0.65916	-0.18	3.81	3.81	0.43845	Cadherin (4);Cadherin-like (1);	0.000000	0.34986	N	0.003523	D	0.87617	0.6222	H	0.99325	4.515	0.52501	D	0.999953	D	0.89917	1.0	D	0.97110	1.0	D	0.93120	0.6524	10	0.87932	D	0	.	15.3767	0.74610	0.0:0.0:1.0:0.0	.	648	Q9NRJ7	PCDBG_HUMAN	C	648	ENSP00000354293:G648C	ENSP00000354293:G648C	G	+	1	0	PCDHB16	140544260	1.000000	0.71417	0.999000	0.59377	0.684000	0.39900	9.428000	0.97476	1.675000	0.50919	0.298000	0.19748	GGC		0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		17	50	1	0	6.33239e-15	0.00152264	4.08561e-14	17	50				
ATP10B	23120	broad.mit.edu	37	5	159992643	159992643	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:159992643C>T	ENST00000327245.5	-	26	5049	c.4203G>A	c.(4201-4203)caG>caA	p.Q1401Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1401					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCACATCTCTGTTCGTGGA	0.547																																							uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4201-4203)CAG>CAA		ATPase, class V, type 10B							113.0	123.0	120.0					5																	159992643		2072	4190	6262	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992643C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4203G>A	5.37:g.159992643C>T						ATP10B_uc010jit.1_Silent_p.Q651Q	p.Q1401Q	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	5050	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1401			Cytoplasmic (Potential).		Q9H725	Silent	SNP	ENST00000327245.5	37	c.4203G>A	CCDS43394.1																																																																																				0.547	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		14	106	0	0	0	0.000219431	0	14	106				
F13A1	2162	broad.mit.edu	37	6	6267034	6267034	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:6267034G>T	ENST00000264870.3	-	4	593	c.328C>A	c.(328-330)Cca>Aca	p.P110T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	110					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCTCCTGTGGGTAGCGACCT	0.453																																							uc003mwv.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(328-330)CCA>ACA		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						153.0	150.0	151.0					6																	6267034		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6267034G>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.328C>A	6.37:g.6267034G>T	ENSP00000264870:p.Pro110Thr					F13A1_uc011dib.1_Missense_Mutation_p.P47T	p.P110T	NM_000129	NP_000120	P00488	F13A_HUMAN			4	451	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	110					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.328C>A	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914359	0.72983	.	.	ENSG00000124491	ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222	D;D	0.95656	-3.77;-3.77	5.65	5.65	0.86999	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98572	1.0646	10	0.87932	D	0	.	18.7279	0.91722	0.0:0.0:1.0:0.0	.	47;110	F5H080;P00488	.;F13A_HUMAN	T	110;47;110;148	ENSP00000264870:P110T;ENSP00000413334:P110T	ENSP00000264870:P110T	P	-	1	0	F13A1	6212033	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	8.139000	0.89615	2.660000	0.90430	0.655000	0.94253	CCA		0.453	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		20	78	1	0	3.10358e-05	0.000295444	0.000172822	20	78				
GCNT2	2651	broad.mit.edu	37	6	10529657	10529657	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:10529657G>A	ENST00000379597.3	+	1	1069	c.513G>A	c.(511-513)ctG>ctA	p.L171L	GCNT2_ENST00000495262.1_Silent_p.L171L|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	171					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGGCTGACCTGAACTGCCTGG	0.517																																							uc010joo.2		NA																	0				ovary(2)	2						c.(511-513)CTG>CTA		glucosaminyl (N-acetyl) transferase 2,							43.0	43.0	43.0					6																	10529657		2203	4300	6503	SO:0001819	synonymous_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529657G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.513G>A	6.37:g.10529657G>A						GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Silent_p.L170L|GCNT2_uc010jon.2_Silent_p.L170L	p.L171L	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	3	1064	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	171			Lumenal (Potential).			Silent	SNP	ENST00000379597.3	37	c.513G>A	CCDS34338.1																																																																																				0.517	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		10	47	0	0	0	0.000673444	0	10	47				
KIF13A	63971	broad.mit.edu	37	6	17834252	17834252	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:17834252C>T	ENST00000259711.6	-	12	1311	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	KIF13A_ENST00000378814.5_Silent_p.L402L|KIF13A_ENST00000378826.2_Silent_p.L402L|KIF13A_ENST00000378843.2_Silent_p.L402L|KIF13A_ENST00000378816.5_Silent_p.L402L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	402					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTCTTTTATCAGCTTTTCAG	0.378																																							uc003ncg.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(1204-1206)CTG>CTA		kinesin family member 13A isoform a							141.0	128.0	132.0					6																	17834252		1835	4081	5916	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17834252C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1206G>A	6.37:g.17834252C>T						KIF13A_uc003ncf.2_Silent_p.L402L|KIF13A_uc003nch.3_Silent_p.L402L|KIF13A_uc003nci.3_Silent_p.L402L|KIF13A_uc003ncj.2_Silent_p.L78L	p.L402L	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		12	1311	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	402			Potential.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.1206G>A	CCDS47381.1																																																																																				0.378	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			5	31	0	0	0	0.000602214	0	5	31				
FAM65B	9750	broad.mit.edu	37	6	24843500	24843500	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:24843500C>T	ENST00000259698.4	-	14	1685	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	FAM65B_ENST00000473070.1_5'Flank|FAM65B_ENST00000538035.1_Missense_Mutation_p.D483N|FAM65B_ENST00000510784.2_Missense_Mutation_p.D488N|FAM65B_ENST00000378023.4_Missense_Mutation_p.D454N|FAM65B_ENST00000540914.1_Missense_Mutation_p.D454N	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	504					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCCTCTGGGTCTTCCTCCTTC	0.582																																							uc003neo.1		NA																	0				ovary(1)	1						c.(1510-1512)GAC>AAC		hypothetical protein LOC9750 isoform 1							90.0	85.0	86.0					6																	24843500		1925	4120	6045	SO:0001583	missense	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24843500C>T	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1510G>A	6.37:g.24843500C>T	ENSP00000259698:p.Asp504Asn					FAM65B_uc011djs.1_Missense_Mutation_p.D483N|FAM65B_uc011dju.1_Missense_Mutation_p.D488N|FAM65B_uc003nep.2_Missense_Mutation_p.D454N|FAM65B_uc011djt.1_Missense_Mutation_p.D454N	p.D504N	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			14	1686	-			504					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	c.1510G>A	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	9.453	1.091145	0.20471	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	4.81	1.82	0.25136	.	0.618969	0.17601	N	0.168429	T	0.08935	0.0221	L	0.36672	1.1	0.09310	N	1	P;B;B;B	0.34800	0.469;0.216;0.332;0.054	B;B;B;B	0.29598	0.104;0.031;0.102;0.047	T	0.24512	-1.0158	10	0.17369	T	0.5	-9.101	9.4723	0.38851	0.0:0.5717:0.3505:0.0778	.	488;483;454;504	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	N	504;483;454;454;488	ENSP00000259698:D504N;ENSP00000441138:D483N;ENSP00000367262:D454N;ENSP00000438425:D454N;ENSP00000441305:D488N	ENSP00000259698:D504N	D	-	1	0	FAM65B	24951479	0.000000	0.05858	0.005000	0.12908	0.114000	0.19823	-2.974000	0.00666	0.591000	0.29711	0.655000	0.94253	GAC		0.582	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			7	44	0	0	0	0.000274275	0	7	44				
BTN3A3	10384	broad.mit.edu	37	6	26444523	26444523	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:26444523A>T	ENST00000244519.2	+	4	667	c.424A>T	c.(424-426)Aag>Tag	p.K142*	BTN3A3_ENST00000361232.3_Nonsense_Mutation_p.K100*|BTN3A3_ENST00000339789.4_Nonsense_Mutation_p.K100*	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	142					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GGTGGAGCTGAAGGTTGCAGG	0.488																																							uc003nhz.2		NA																	0					0						c.(424-426)AAG>TAG		butyrophilin, subfamily 3, member A3 isoform a							105.0	105.0	105.0					6																	26444523		2203	4300	6503	SO:0001587	stop_gained	10384					integral to membrane		g.chr6:26444523A>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.424A>T	6.37:g.26444523A>T	ENSP00000244519:p.Lys142*					BTN3A3_uc003nia.2_Nonsense_Mutation_p.K100*|BTN3A3_uc011dkn.1_Nonsense_Mutation_p.K100*	p.K142*	NM_006994	NP_008925	O00478	BT3A3_HUMAN			4	604	+			142			Extracellular (Potential).		B4DWI7|E9PCP5	Nonsense_Mutation	SNP	ENST00000244519.2	37	c.424A>T	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	36	5.643675	0.96704	.	.	ENSG00000111801	ENST00000482451;ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000487627;ENST00000496719;ENST00000490254;ENST00000476281;ENST00000487272	.	.	.	2.5	-0.0393	0.13876	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0658	0.09859	0.6611:0.2105:0.1285:0.0	.	.	.	.	X	124;142;100;100;100;100;142;100;100;100	.	ENSP00000244519:K142X	K	+	1	0	BTN3A3	26552502	0.000000	0.05858	0.920000	0.36463	0.988000	0.76386	-0.210000	0.09345	-0.012000	0.14223	0.454000	0.30748	AAG		0.488	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		10	82	0	0	0	0.000978159	0	10	82				
NKAPL	222698	broad.mit.edu	37	6	28227575	28227575	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:28227575G>T	ENST00000343684.3	+	1	478	c.426G>T	c.(424-426)aaG>aaT	p.K142N	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	142										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGTCTCCAAAGTTCCCTCAGC	0.512																																							uc003nkt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(424-426)AAG>AAT		NFKB activating protein-like							103.0	112.0	109.0					6																	28227575		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227575G>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.426G>T	6.37:g.28227575G>T	ENSP00000345716:p.Lys142Asn					ZKSCAN4_uc011dlb.1_5'Flank	p.K142N	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	478	+			142					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.426G>T	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	G	8.913	0.959071	0.18507	.	.	ENSG00000189134	ENST00000343684	T	0.15718	2.4	5.1	2.86	0.33363	.	0.147488	0.64402	D	0.000013	T	0.05456	0.0144	L	0.52126	1.63	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.28332	-1.0047	10	0.59425	D	0.04	-5.884	5.6458	0.17588	0.125:0.2011:0.6738:0.0	.	142	Q5M9Q1	NKAPL_HUMAN	N	142	ENSP00000345716:K142N	ENSP00000345716:K142N	K	+	3	2	NKAPL	28335554	0.997000	0.39634	0.002000	0.10522	0.585000	0.36419	2.602000	0.46257	0.776000	0.33473	-0.150000	0.13652	AAG		0.512	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			20	172	1	0	4.30721e-22	0.00152264	2.86152e-21	20	172				
BAG6	7917	broad.mit.edu	37	6	31608189	31608189	+	Silent	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:31608189T>C	ENST00000375964.6	-	22	3334	c.3021A>G	c.(3019-3021)acA>acG	p.T1007T	BAG6_ENST00000362049.6_Silent_p.T1001T|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000375976.4_Silent_p.T1001T|BAG6_ENST00000404765.2_Silent_p.T1037T|BAG6_ENST00000211379.5_Silent_p.T1001T	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1007					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCCAAGGTTCTGTCTCAGCTG	0.557																																							uc003nvg.3		NA																	0					0						c.(3019-3021)ACA>ACG		HLA-B associated transcript-3 isoform a							119.0	140.0	133.0					6																	31608189		1511	2709	4220	SO:0001819	synonymous_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608189T>C	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.3021A>G	6.37:g.31608189T>C						BAT3_uc003nvf.3_Silent_p.T1001T|BAT3_uc003nvh.3_Silent_p.T1001T|BAT3_uc003nvi.3_Silent_p.T1001T|BAT3_uc011dnw.1_Silent_p.T1001T|BAT3_uc011dnx.1_Intron	p.T1007T	NM_004639	NP_004630	P46379	BAG6_HUMAN			22	3335	-			1007					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	c.3021A>G	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	T	8.118	0.780346	0.16120	.	.	ENSG00000204463	ENST00000441793	.	.	.	5.55	0.372	0.16173	.	.	.	.	.	T	0.25494	0.0620	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19451	-1.0305	4	.	.	.	.	1.8235	0.03116	0.1219:0.2072:0.1261:0.5448	.	.	.	.	R	150	.	.	Q	-	2	0	BAG6	31716168	0.949000	0.32298	1.000000	0.80357	0.998000	0.95712	-0.026000	0.12392	0.174000	0.19809	0.533000	0.62120	CAG		0.557	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		30	124	0	0	0	0.001512	0	30	124				
SRF	6722	broad.mit.edu	37	6	43146097	43146097	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:43146097C>T	ENST00000265354.4	+	5	1586	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	SRF_ENST00000457278.2_Missense_Mutation_p.P206S	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	410					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CATGATGTACCCTAGCCCGCA	0.617																																							uc003oui.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1228-1230)CCT>TCT		serum response factor (c-fos serum response							101.0	74.0	83.0					6																	43146097		2203	4300	6503	SO:0001583	missense	6722				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr6:43146097C>T	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.1228C>T	6.37:g.43146097C>T	ENSP00000265354:p.Pro410Ser					SRF_uc011dvf.1_Missense_Mutation_p.P206S	p.P410S	NM_003131	NP_003122	P11831	SRF_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		5	1703	+			410					Q5T648	Missense_Mutation	SNP	ENST00000265354.4	37	c.1228C>T	CCDS4889.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584327	0.65992	.	.	ENSG00000112658	ENST00000265354;ENST00000457278	D	0.83419	-1.72	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	N	0.14661	0.345	0.80722	D	1	B	0.29162	0.235	B	0.25884	0.064	T	0.64076	-0.6492	10	0.41790	T	0.15	-8.4	19.7959	0.96481	0.0:1.0:0.0:0.0	.	410	P11831	SRF_HUMAN	S	410;206	ENSP00000265354:P410S	ENSP00000265354:P410S	P	+	1	0	SRF	43254075	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.614000	0.67695	2.745000	0.94114	0.561000	0.74099	CCT		0.617	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		6	52	0	0	0	0.000274275	0	6	52				
MRPS18A	55168	broad.mit.edu	37	6	43648835	43648835	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:43648835C>T	ENST00000372133.3	-	2	146	c.135G>A	c.(133-135)aaG>aaA	p.K45K	MRPS18A_ENST00000372116.1_Silent_p.K45K	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	45					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			CTATAGTTGTCTTCCCTTCTT	0.473																																							uc003ovy.1		NA																	0					0						c.(133-135)AAG>AAA		mitochondrial ribosomal protein S18A precursor							129.0	99.0	109.0					6																	43648835		2203	4300	6503	SO:0001819	synonymous_variant	55168				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr6:43648835C>T	AB049952	CCDS4906.1, CCDS55006.1	6p21.3	2012-09-13			ENSG00000096080	ENSG00000096080		"""Mitochondrial ribosomal proteins / small subunits"""	14515	protein-coding gene	gene with protein product		611981				11279123, 11543634	Standard	NM_018135		Approved	FLJ10548, MRPS18-3	uc003ovy.2	Q9NVS2	OTTHUMG00000014750	ENST00000372133.3:c.135G>A	6.37:g.43648835C>T						MRPS18A_uc003ovz.1_Silent_p.K45K|MRPS18A_uc003owa.1_Silent_p.K45K|MRPS18A_uc010jyw.2_Silent_p.K45K	p.K45K	NM_018135	NP_060605	Q9NVS2	RT18A_HUMAN	all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)		2	147	-	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		45					A6XND3|Q5QPA4	Silent	SNP	ENST00000372133.3	37	c.135G>A	CCDS4906.1																																																																																				0.473	MRPS18A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040697.1	NM_018135		4	29	0	0	0	0.00116845	0	4	29				
EYS	346007	broad.mit.edu	37	6	66205196	66205196	+	Silent	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:66205196G>T	ENST00000370621.3	-	4	634	c.108C>A	c.(106-108)ccC>ccA	p.P36P	EYS_ENST00000342421.5_Silent_p.P36P|EYS_ENST00000503581.1_Silent_p.P36P|EYS_ENST00000370618.3_Silent_p.P36P|EYS_ENST00000393380.2_Silent_p.P36P|EYS_ENST00000370616.2_Silent_p.P36P			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	36					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATATGATGAGGGTTGTGGAT	0.388																																							uc011dxu.1		NA																	0				lung(4)|ovary(1)|skin(1)	6						c.(106-108)CCC>CCA		eyes shut homolog isoform 1							105.0	105.0	105.0					6																	66205196		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205196G>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.108C>A	6.37:g.66205196G>T						EYS_uc003peq.2_Silent_p.P36P|EYS_uc003per.1_Silent_p.P36P|EYS_uc010kaj.1_RNA	p.P36P	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	646	-			36					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.108C>A																																																																																					0.388	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		25	86	1	0	7.92952e-12	0.000586117	5.04333e-11	25	86				
BAI3	577	broad.mit.edu	37	6	69703681	69703681	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:69703681G>T	ENST00000370598.1	+	11	2577	c.1756G>T	c.(1756-1758)Ggg>Tgg	p.G586W		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	586					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G586R(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTTGCTAAGGGGCAGCGAAT	0.403																																							uc003pev.3		NA																	1	Substitution - Missense(1)	p.G586R(1)	lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1756-1758)GGG>TGG		brain-specific angiogenesis inhibitor 3							211.0	226.0	221.0					6																	69703681		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69703681G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1756G>T	6.37:g.69703681G>T	ENSP00000359630:p.Gly586Trp					BAI3_uc010kak.2_Missense_Mutation_p.G586W	p.G586W	NM_001704	NP_001695	O60242	BAI3_HUMAN			11	2204	+		all_lung(197;0.212)	586			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1756G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868583	0.91587	.	.	ENSG00000135298	ENST00000370598	T	0.10860	2.83	5.85	5.85	0.93711	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00605	-1.1648	10	0.87932	D	0	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	586	O60242	BAI3_HUMAN	W	586	ENSP00000359630:G586W	ENSP00000359630:G586W	G	+	1	0	BAI3	69760402	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.837000	0.99465	2.772000	0.95346	0.650000	0.86243	GGG		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			70	186	1	0	4.75426e-39	0.000781405	3.22233e-38	70	186				
BAI3	577	broad.mit.edu	37	6	70071370	70071370	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:70071370A>G	ENST00000370598.1	+	29	5026	c.4205A>G	c.(4204-4206)gAa>gGa	p.E1402G	BAI3_ENST00000238918.8_Missense_Mutation_p.E608G|BAI3_ENST00000546190.1_Missense_Mutation_p.E366G	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1402					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCAAGAAGTGAAACTGGATCA	0.373																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(4204-4206)GAA>GGA		brain-specific angiogenesis inhibitor 3							96.0	102.0	100.0					6																	70071370		2202	4299	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071370A>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4205A>G	6.37:g.70071370A>G	ENSP00000359630:p.Glu1402Gly					BAI3_uc010kak.2_Missense_Mutation_p.E1402G|BAI3_uc011dxx.1_Missense_Mutation_p.E608G	p.E1402G	NM_001704	NP_001695	O60242	BAI3_HUMAN			29	4653	+		all_lung(197;0.212)	1402			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4205A>G	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.783037	0.70222	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.09350	2.99;2.99;2.99	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	M	0.73217	2.22	0.58432	D	0.999999	D;D	0.57899	0.981;0.967	D;B	0.67900	0.954;0.439	T	0.00692	-1.1607	10	0.56958	D	0.05	.	16.2127	0.82178	1.0:0.0:0.0:0.0	.	608;1402	B7Z356;O60242	.;BAI3_HUMAN	G	1402;608;366	ENSP00000359630:E1402G;ENSP00000238918:E608G;ENSP00000441821:E366G	ENSP00000238918:E608G	E	+	2	0	BAI3	70128091	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.236000	0.73375	0.533000	0.62120	GAA		0.373	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			12	46	0	0	0	0.000219431	0	12	46				
MCHR2	84539	broad.mit.edu	37	6	100403872	100403872	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:100403872C>A	ENST00000281806.2	-	2	466	c.152G>T	c.(151-153)gGc>gTc	p.G51V	MCHR2_ENST00000369212.2_Missense_Mutation_p.G51V	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GAGGATGTTGCCAACCAGCCC	0.383																																							uc003pqh.1		NA																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(151-153)GGC>GTC		melanin-concentrating hormone receptor 2							103.0	94.0	98.0					6																	100403872		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100403872C>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.152G>T	6.37:g.100403872C>A	ENSP00000281806:p.Gly51Val					MCHR2_uc003pqi.1_Missense_Mutation_p.G51V	p.G51V	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	2	467	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	51			Helical; Name=1; (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.152G>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901153	0.72754	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.56103	0.48;0.48;0.48	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.77592	0.4153	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84772	0.0768	10	0.87932	D	0	.	15.8342	0.78787	0.0:1.0:0.0:0.0	.	51	Q969V1	MCHR2_HUMAN	V	51	ENSP00000403490:G51V;ENSP00000281806:G51V;ENSP00000358214:G51V	ENSP00000281806:G51V	G	-	2	0	MCHR2	100510593	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.841000	0.62824	2.386000	0.81285	0.561000	0.74099	GGC		0.383	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		10	41	1	0	1.76689e-08	0.000442599	1.05385e-07	10	41				
SAMD3	154075	broad.mit.edu	37	6	130530743	130530743	+	Missense_Mutation	SNP	C	C	T	rs17852709		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:130530743C>T	ENST00000368134.2	-	7	888	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	SAMD3_ENST00000457563.2_Missense_Mutation_p.E118K|SAMD3_ENST00000439090.2_Missense_Mutation_p.E94K|SAMD3_ENST00000532763.1_Missense_Mutation_p.E92K|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Missense_Mutation_p.E94K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E94K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	94			E -> K (in dbSNP:rs17852709). {ECO:0000269|PubMed:15489334}.							breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GAGGACTCTTCATCCCTGTAA	0.468																																							uc003qbv.2		NA																	0				ovary(1)	1						c.(280-282)GAA>AAA		sterile alpha motif domain containing 3 isoform							101.0	92.0	95.0					6																	130530743		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130530743C>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.280G>A	6.37:g.130530743C>T	ENSP00000357116:p.Glu94Lys					SAMD3_uc003qbx.2_Missense_Mutation_p.E94K|SAMD3_uc003qbw.2_Missense_Mutation_p.E94K|SAMD3_uc010kfg.1_Missense_Mutation_p.E94K|SAMD3_uc003qby.2_Missense_Mutation_p.E94K|SAMD3_uc003qbz.1_Missense_Mutation_p.E53K	p.E94K	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	6	606	-			94					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.280G>A	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	6.217	0.408213	0.11754	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.45276	0.91;0.9;0.91;0.91;0.92;0.92;0.92;0.91;0.92	5.63	2.84	0.33178	.	0.729028	0.13030	N	0.419377	T	0.12178	0.0296	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.22276	0.002;0.067;0.001;0.003	B;B;B;B	0.15870	0.003;0.014;0.003;0.002	T	0.24404	-1.0161	10	0.33141	T	0.24	.	6.0257	0.19654	0.0:0.6764:0.1553:0.1683	rs17852709	118;94;94;94	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	K	94;118;94;94;92;94;94;94;92	ENSP00000357116:E94K;ENSP00000402092:E118K;ENSP00000403565:E94K;ENSP00000391163:E94K;ENSP00000436088:E92K;ENSP00000324874:E94K;ENSP00000436115:E94K;ENSP00000435875:E94K;ENSP00000434139:E92K	ENSP00000324874:E94K	E	-	1	0	SAMD3	130572436	0.000000	0.05858	0.005000	0.12908	0.082000	0.17680	-0.323000	0.07997	0.394000	0.25230	0.655000	0.94253	GAA		0.468	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		6	39	0	0	0	0.00116845	0	6	39				
AHI1	54806	broad.mit.edu	37	6	135784321	135784321	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:135784321G>A	ENST00000367800.4	-	6	1089	c.873C>T	c.(871-873)gaC>gaT	p.D291D	AHI1_ENST00000327035.6_Silent_p.D291D|AHI1_ENST00000457866.2_Silent_p.D291D	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	291	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTGCATGCTGTCTTCTGTGC	0.323																																							uc003qgi.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(871-873)GAC>GAT		Abelson helper integration site 1 isoform a							141.0	125.0	130.0					6																	135784321		1860	4105	5965	SO:0001819	synonymous_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135784321G>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.873C>T	6.37:g.135784321G>A						AHI1_uc003qgh.2_Silent_p.D291D|AHI1_uc003qgj.2_Silent_p.D291D|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Silent_p.D291D	p.D291D	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	8	1257	-	Breast(56;0.239)|Colorectal(23;0.24)		291					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	c.873C>T	CCDS47483.1																																																																																				0.323	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		7	73	0	0	0	8.12818e-05	0	7	73				
SCAF8	22828	broad.mit.edu	37	6	155095170	155095170	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:155095170G>A	ENST00000367178.3	+	2	654	c.78G>A	c.(76-78)atG>atA	p.M26I	SCAF8_ENST00000417268.1_Missense_Mutation_p.M26I|SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.M92I	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	26	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AAGCGAAAATGACCCAAATTA	0.318																																							uc003qqa.2		NA																	0					0						c.(76-78)ATG>ATA		RNA-binding motif protein 16							124.0	125.0	125.0					6																	155095170		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155095170G>A	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.78G>A	6.37:g.155095170G>A	ENSP00000356146:p.Met26Ile					RBM16_uc011efj.1_Missense_Mutation_p.M92I|RBM16_uc011efk.1_Missense_Mutation_p.M71I|RBM16_uc003qpz.2_Missense_Mutation_p.M26I|RBM16_uc010kji.2_Missense_Mutation_p.M47I	p.M26I	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	3	310	+		Ovarian(120;0.196)	26			CID.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.78G>A	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894052	0.72639	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.26223	1.75;1.75;1.75	5.38	5.38	0.77491	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.000000	0.85682	U	0.000000	T	0.33206	0.0855	L	0.43152	1.355	0.80722	D	1	P;D;P;P	0.54964	0.923;0.969;0.686;0.823	D;D;D;D	0.68192	0.956;0.914;0.913;0.936	T	0.00872	-1.1532	10	0.24483	T	0.36	.	19.0901	0.93224	0.0:0.0:1.0:0.0	.	71;92;104;26	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	I	26;26;92	ENSP00000356146:M26I;ENSP00000413098:M26I;ENSP00000356154:M92I	ENSP00000356146:M26I	M	+	3	0	SCAF8	155136862	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.210000	0.89753	2.677000	0.91161	0.591000	0.81541	ATG		0.318	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		30	74	0	0	0	0.000692331	0	30	74				
EZR	7430	broad.mit.edu	37	6	159206352	159206352	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:159206352C>T	ENST00000367075.3	-	5	624	c.456G>A	c.(454-456)ctG>ctA	p.L152L	EZR_ENST00000337147.7_Silent_p.L152L|EZR_ENST00000392177.4_Silent_p.L120L|EZR_ENST00000476189.1_5'UTR	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	152	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTTGAGGGATCAGCCGCTCAG	0.562			T	ROS1	NSCLC																																		uc003qrt.3		NA		Dom	yes		6	6q25.3	7430		ezrin			E					0				ovary(1)	1						c.(454-456)CTG>CTA		ezrin							101.0	84.0	90.0					6																	159206352		2203	4300	6503	SO:0001819	synonymous_variant	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159206352C>T	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.456G>A	6.37:g.159206352C>T						EZR_uc011efs.1_Silent_p.L120L|EZR_uc003qru.3_Silent_p.L152L	p.L152L	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	4	671	-		Breast(66;0.000776)|Ovarian(120;0.0303)	152			FERM.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	37	c.456G>A	CCDS5258.1																																																																																				0.562	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		10	50	0	0	0	0.000978159	0	10	50				
RNF216	54476	broad.mit.edu	37	7	5760666	5760666	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:5760666C>T	ENST00000425013.2	-	9	1695	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	RNF216_ENST00000389902.3_Missense_Mutation_p.E548K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	491					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CTTCCTACCTCTGCCATCTCT	0.443																																							uc003soy.1		NA																	0				ovary(3)|breast(2)	5						c.(1471-1473)GAG>AAG		ring finger protein 216 isoform b							187.0	201.0	196.0					7																	5760666		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5760666C>T	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1471G>A	7.37:g.5760666C>T	ENSP00000404602:p.Glu491Lys					RNF216_uc010ksz.1_Missense_Mutation_p.E113K|RNF216_uc010kta.1_Missense_Mutation_p.E113K|RNF216_uc011jwj.1_Missense_Mutation_p.E113K|RNF216_uc003sox.1_Missense_Mutation_p.E548K	p.E491K	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	9	1661	-		Ovarian(82;0.07)	491			Potential.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.1471G>A	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402582	0.96030	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.32272	1.46;1.46	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.43523	0.1251	L	0.27053	0.805	0.80722	D	1	P;D	0.76494	0.694;0.999	P;D	0.74023	0.532;0.982	T	0.21827	-1.0234	10	0.36615	T	0.2	-17.3693	18.1571	0.89694	0.0:1.0:0.0:0.0	.	491;548	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	K	491;548;303	ENSP00000404602:E491K;ENSP00000374552:E548K	ENSP00000374552:E548K	E	-	1	0	RNF216	5727192	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.134000	0.77268	2.544000	0.85801	0.491000	0.48974	GAG		0.443	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		10	163	0	0	0	0.000673444	0	10	163				
COL28A1	340267	broad.mit.edu	37	7	7472294	7472294	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:7472294C>A	ENST00000399429.3	-	24	2038	c.1898G>T	c.(1897-1899)gGa>gTa	p.G633V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	633					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACCTTTGAGTCCTGGAGCACC	0.488																																							uc003src.1		NA																	0				skin(3)	3						c.(1897-1899)GGA>GTA		collagen, type XXVIII precursor							98.0	103.0	102.0					7																	7472294		1991	4152	6143	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7472294C>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1898G>T	7.37:g.7472294C>A	ENSP00000382356:p.Gly633Val					COL28A1_uc011jxe.1_Missense_Mutation_p.G316V|COL28A1_uc003srd.2_Missense_Mutation_p.G188V|COL28A1_uc003sre.1_Missense_Mutation_p.G54V	p.G633V	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	24	2015	-		Ovarian(82;0.0789)	633					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1898G>T	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871218	0.72065	.	.	ENSG00000215018	ENST00000399429;ENST00000435823;ENST00000399419	D;D	0.99353	-4.21;-5.77	4.72	4.72	0.59763	.	0.000000	0.64402	U	0.000010	D	0.99609	0.9858	H	0.97465	4.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97700	1.0184	10	0.72032	D	0.01	-7.1675	13.3867	0.60799	0.0:1.0:0.0:0.0	.	633;633;633	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	V	633;50;633	ENSP00000382356:G633V;ENSP00000410557:G50V	ENSP00000382347:G633V	G	-	2	0	COL28A1	7438819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.404000	0.52623	2.640000	0.89533	0.585000	0.79938	GGA		0.488	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		61	89	1	0	1.3268e-25	0.000781405	8.90285e-25	61	89				
HDAC9	9734	broad.mit.edu	37	7	18688173	18688173	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:18688173G>A	ENST00000432645.2	+	10	1325	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	HDAC9_ENST00000456174.2_Missense_Mutation_p.R414H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R429H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R440H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R365H|HDAC9_ENST00000406451.4_Missense_Mutation_p.R442H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R401H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R442H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R445H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R398H	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	442					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAATTGCCCCGTCACAGACCC	0.493																																							uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1324-1326)CGT>CAT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						82.0	83.0	83.0					7																	18688173		1944	4118	6062	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18688173G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1325G>A	7.37:g.18688173G>A	ENSP00000410337:p.Arg442His					HDAC9_uc003sue.2_Missense_Mutation_p.R442H|HDAC9_uc011jyd.1_Missense_Mutation_p.R442H|HDAC9_uc003sui.2_Missense_Mutation_p.R445H|HDAC9_uc003suj.2_Missense_Mutation_p.R401H|HDAC9_uc011jya.1_Missense_Mutation_p.R439H|HDAC9_uc003sua.1_Missense_Mutation_p.R420H|HDAC9_uc011jyb.1_Missense_Mutation_p.R398H|HDAC9_uc003sud.1_Missense_Mutation_p.R442H|HDAC9_uc011jyc.1_Missense_Mutation_p.R401H|HDAC9_uc003suf.1_Missense_Mutation_p.R473H|HDAC9_uc010kud.1_Missense_Mutation_p.R445H|HDAC9_uc011jye.1_Missense_Mutation_p.R414H|HDAC9_uc011jyf.1_Missense_Mutation_p.R365H|HDAC9_uc010kue.1_Missense_Mutation_p.R185H	p.R442H	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			10	1366	+	all_lung(11;0.187)		442					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1325G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319200	0.81469	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.59224	0.86;0.87;0.29;0.87;0.86;0.28;0.3;0.3;0.89;0.86	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000022	T	0.74442	0.3717	L	0.60455	1.87	0.53688	D	0.999972	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.999;0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	P;D;D;P;P;D;D;D;D;P;D;D;D;D	0.83275	0.818;0.925;0.95;0.902;0.893;0.973;0.991;0.993;0.996;0.902;0.991;0.996;0.938;0.991	T	0.75184	-0.3407	10	0.59425	D	0.04	-28.0279	19.3488	0.94376	0.0:0.0:1.0:0.0	.	365;414;442;429;440;442;445;401;445;442;414;442;442;420	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	H	440;443;442;442;398;429;401;442;445;414;365;442	ENSP00000401669:R440H;ENSP00000384382:R442H;ENSP00000384657:R442H;ENSP00000395655:R398H;ENSP00000384017:R429H;ENSP00000383912:R401H;ENSP00000410337:R442H;ENSP00000408617:R445H;ENSP00000388568:R414H;ENSP00000430036:R365H	ENSP00000262069:R443H	R	+	2	0	HDAC9	18654698	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.939000	0.75911	2.584000	0.87258	0.557000	0.71058	CGT		0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			7	100	0	0	0	0.000157383	0	7	100				
DFNA5	1687	broad.mit.edu	37	7	24749972	24749972	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:24749972C>T	ENST00000342947.3	-	6	1158	c.733G>A	c.(733-735)Gag>Aag	p.E245K	DFNA5_ENST00000409775.3_Missense_Mutation_p.E245K|DFNA5_ENST00000419307.1_Missense_Mutation_p.E81K|DFNA5_ENST00000545231.1_Missense_Mutation_p.E81K|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Missense_Mutation_p.E81K	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	245					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TTCTTGTTCTCGAAGCCACCT	0.488																																					GBM(78;184 1250 20134 20900 23600)	GBM(78;184 1250 20134 20900 23600)	uc010kus.1		NA																	0				ovary(1)	1						c.(733-735)GAG>AAG		deafness, autosomal dominant 5 protein isoform							105.0	101.0	103.0					7																	24749972		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24749972C>T	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.733G>A	7.37:g.24749972C>T	ENSP00000339587:p.Glu245Lys					DFNA5_uc003swz.2_Missense_Mutation_p.E81K|DFNA5_uc003sxa.1_Missense_Mutation_p.E245K|DFNA5_uc010kut.1_Missense_Mutation_p.E81K	p.E245K	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN			6	821	-			245					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.733G>A	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325271	0.60743	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.47	5.47	0.80525	.	0.108149	0.64402	D	0.000008	T	0.50599	0.1625	M	0.78637	2.42	0.58432	D	0.999996	D	0.76494	0.999	D	0.63793	0.918	T	0.50725	-0.8794	10	0.49607	T	0.09	-29.9292	16.2545	0.82505	0.0:1.0:0.0:0.0	.	245	O60443	DFNA5_HUMAN	K	245;81;81;81;245	ENSP00000339587:E245K;ENSP00000401332:E81K;ENSP00000442661:E81K;ENSP00000387119:E81K;ENSP00000386670:E245K	ENSP00000339587:E245K	E	-	1	0	DFNA5	24716497	0.242000	0.23868	0.902000	0.35471	0.011000	0.07611	0.813000	0.27225	2.547000	0.85894	0.563000	0.77884	GAG		0.488	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		13	117	0	0	0	0.000219431	0	13	117				
CCT6A	908	broad.mit.edu	37	7	56122154	56122154	+	Missense_Mutation	SNP	C	C	G	rs368822326		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:56122154C>G	ENST00000275603.4	+	3	513	c.294C>G	c.(292-294)atC>atG	p.I98M	CCT6A_ENST00000540286.1_Missense_Mutation_p.I67M|PSPH_ENST00000275605.3_5'Flank|CCT6A_ENST00000335503.3_Intron|PSPH_ENST00000395471.3_5'Flank|SNORA22_ENST00000383876.1_RNA	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	98					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGTCCTAATCATTGGAGAGC	0.383																																							uc003trl.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(292-294)ATC>ATG		chaperonin containing TCP1, subunit 6A isoform							111.0	108.0	109.0					7																	56122154		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56122154C>G	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.294C>G	7.37:g.56122154C>G	ENSP00000275603:p.Ile98Met					PSPH_uc003trh.2_5'Flank|PSPH_uc003tri.2_5'Flank|PSPH_uc003trj.2_Intron|PSPH_uc003trk.1_5'Flank|CCT6A_uc003trm.1_Intron|CCT6A_uc011kcu.1_Missense_Mutation_p.I67M	p.I98M	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	458	+	Breast(14;0.214)		98					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.294C>G	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379136	0.61735	.	.	ENSG00000146731	ENST00000275603;ENST00000540286	T;T	0.79352	-1.26;-1.26	5.35	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	M	0.74546	2.27	0.58432	D	0.999999	P;P	0.44090	0.826;0.826	B;P	0.45037	0.441;0.467	T	0.79281	-0.1868	10	0.72032	D	0.01	-16.3447	11.1423	0.48411	0.0:0.8498:0.0:0.1502	.	67;98	B4DPJ8;P40227	.;TCPZ_HUMAN	M	98;67	ENSP00000275603:I98M;ENSP00000438488:I67M	ENSP00000275603:I98M	I	+	3	3	CCT6A	56089648	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	2.109000	0.41863	0.645000	0.30675	0.491000	0.48974	ATC		0.383	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		16	183	0	0	0	0.00074312	0	16	183				
PCLO	27445	broad.mit.edu	37	7	82785429	82785429	+	Silent	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:82785429A>G	ENST00000333891.9	-	2	865	c.528T>C	c.(526-528)ttT>ttC	p.F176F	PCLO_ENST00000423517.2_Silent_p.F176F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATATCAAATCAAAAGGGTTGA	0.403																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(526-528)TTT>TTC		piccolo isoform 1							98.0	95.0	96.0					7																	82785429		1858	4091	5949	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82785429A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.528T>C	7.37:g.82785429A>G						PCLO_uc003uhv.2_Silent_p.F176F	p.F176F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	817	-			176						Silent	SNP	ENST00000333891.9	37	c.528T>C	CCDS47630.1																																																																																				0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	53	0	0	0	0.000157383	0	7	53				
SEMA3D	223117	broad.mit.edu	37	7	84628881	84628881	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:84628881T>A	ENST00000284136.6	-	17	2252	c.2209A>T	c.(2209-2211)Agg>Tgg	p.R737W	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	737					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CGCTTCTCCCTGTGCCACATC	0.493																																					Ovarian(63;442 1191 17318 29975 31528)	Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	0				ovary(3)|large_intestine(2)	5						c.(2209-2211)AGG>TGG		semaphorin 3D precursor							166.0	141.0	150.0					7																	84628881		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628881T>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2209A>T	7.37:g.84628881T>A	ENSP00000284136:p.Arg737Trp					SEMA3D_uc010led.2_Missense_Mutation_p.R737W|SEMA3D_uc003uib.2_Missense_Mutation_p.R376W	p.R737W	NM_152754	NP_689967	O95025	SEM3D_HUMAN			17	2249	-			737					A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2209A>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629572	0.67015	.	.	ENSG00000153993	ENST00000284136	T	0.33654	1.4	5.93	0.748	0.18376	.	0.246515	0.46442	D	0.000283	T	0.43344	0.1243	L	0.57536	1.79	0.80722	D	1	P	0.44344	0.833	P	0.48552	0.581	T	0.45338	-0.9268	10	0.41790	T	0.15	.	16.3596	0.83257	0.0:0.0:0.6197:0.3802	.	737	O95025	SEM3D_HUMAN	W	737	ENSP00000284136:R737W	ENSP00000284136:R737W	R	-	1	2	SEMA3D	84466817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.614000	0.24314	0.112000	0.17975	0.533000	0.62120	AGG		0.493	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		5	65	0	0	0	0.00116845	0	5	65				
SAMD9L	219285	broad.mit.edu	37	7	92761372	92761372	+	Missense_Mutation	SNP	C	C	T	rs377323280		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:92761372C>T	ENST00000318238.4	-	5	5129	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1305K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1305K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1305					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGAAAAGTTCTGTGTATTTC	0.358																																							uc003umh.1		NA																	0				ovary(4)	4						c.(3913-3915)GAA>AAA		sterile alpha motif domain containing 9-like							79.0	82.0	81.0					7																	92761372		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92761372C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3913G>A	7.37:g.92761372C>T	ENSP00000326247:p.Glu1305Lys					SAMD9L_uc003umj.1_Missense_Mutation_p.E1305K|SAMD9L_uc003umi.1_Missense_Mutation_p.E1305K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1305K|SAMD9L_uc003umk.1_Missense_Mutation_p.E1305K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1305K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1305K|SAMD9L_uc011khx.1_Intron	p.E1305K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5129	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1305					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3913G>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	9.063	0.994891	0.19043	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.21361	2.01;2.01;2.01	5.22	3.42	0.39159	.	0.293033	0.28109	N	0.016567	T	0.15609	0.0376	L	0.40543	1.245	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.21415	-1.0246	10	0.24483	T	0.36	-0.356	8.4598	0.32921	0.0:0.7625:0.0:0.2375	.	1305	Q8IVG5	SAM9L_HUMAN	K	1305	ENSP00000326247:E1305K;ENSP00000405760:E1305K;ENSP00000408796:E1305K	ENSP00000326247:E1305K	E	-	1	0	SAMD9L	92599308	0.000000	0.05858	0.006000	0.13384	0.908000	0.53690	-1.179000	0.03090	0.782000	0.33613	0.467000	0.42956	GAA		0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		9	73	0	0	0	0.000274275	0	9	73				
COL1A2	1278	broad.mit.edu	37	7	94053707	94053707	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:94053707C>T	ENST00000297268.6	+	41	3096	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	875					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTCTGGGTCTCCCTGGCTCGA	0.468										HNSCC(75;0.22)																													uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2623-2625)CTC>CTT		alpha 2 type I collagen precursor	Collagenase(DB00048)						161.0	151.0	155.0					7																	94053707		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94053707C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2625C>T	7.37:g.94053707C>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA	p.L875L	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		41	3096	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		875					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.2625C>T	CCDS34682.1																																																																																				0.468	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		12	82	0	0	0	0.00185496	0	12	82				
CPSF4	10898	broad.mit.edu	37	7	99051673	99051674	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:99051673_99051674CC>AA	ENST00000292476.5	+	7	665_666	c.655_656CC>AA	c.(655-657)CCg>AAg	p.P219K	ATP5J2_ENST00000466753.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000436336.2_Missense_Mutation_p.P194K|CPSF4_ENST00000441580.1_Missense_Mutation_p.P141K|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Missense_Mutation_p.P161K|ATP5J2-PTCD1_ENST00000437572.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	219					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P219Q(2)|p.P219T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAGAGAACCCCGCAGGTCATC	0.554																																							uc003uqj.2		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	central_nervous_system(1)	1						c.(655-657)CCG>AAG		cleavage and polyadenylation specific factor 4,																																				SO:0001583	missense	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99051673_99051674CC>AA		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	Exception_encountered	7.37:g.99051673_99051674delinsAA	ENSP00000292476:p.Pro219Lys					PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.P194K|CPSF4_uc003uqk.2_Missense_Mutation_p.P193K|CPSF4_uc011kix.1_Missense_Mutation_p.P141K	p.P219K	NM_006693	NP_006684	O95639	CPSF4_HUMAN			7	798_799	+	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)		219					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	DNP	ENST00000292476.5	37	c.655_656CC>AA	CCDS5664.1																																																																																				0.554	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			9	291	0	0	0	6.4e-05	0	9	291				
DOCK4	9732	broad.mit.edu	37	7	111368635	111368635	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:111368635C>T	ENST00000437633.1	-	52	5852	c.5596G>A	c.(5596-5598)Gaa>Aaa	p.E1866K	DOCK4_ENST00000494651.2_Missense_Mutation_p.E749K|DOCK4_ENST00000428084.1_Missense_Mutation_p.E1875K	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1866					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCTGATTTTCAAAGCCTGAG	0.622																																							uc003vfx.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(5596-5598)GAA>AAA		dedicator of cytokinesis 4							48.0	54.0	52.0					7																	111368635		2078	4212	6290	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111368635C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5596G>A	7.37:g.111368635C>T	ENSP00000404179:p.Glu1866Lys					DOCK4_uc011kml.1_Missense_Mutation_p.E747K|DOCK4_uc011kmm.1_Missense_Mutation_p.E735K|DOCK4_uc003vfw.2_Missense_Mutation_p.E1278K|DOCK4_uc003vfy.2_Missense_Mutation_p.E1911K|DOCK4_uc003vfv.2_Missense_Mutation_p.E179K	p.E1866K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			52	5865	-		Acute lymphoblastic leukemia(1;0.0441)	1866					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.5596G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854532	0.71719	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	T;T;T	0.37058	1.22;1.22;1.22	5.59	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.51422	1.61	0.58432	D	0.999992	B;P;B;B;P;D	0.71674	0.0;0.873;0.421;0.0;0.728;0.998	B;B;B;B;B;D	0.80764	0.001;0.291;0.081;0.001;0.217;0.994	T	0.43343	-0.9397	10	0.22706	T	0.39	.	14.5695	0.68202	0.0:0.9295:0.0:0.0705	.	735;749;1911;1866;1837;179	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4	.;.;.;DOCK4_HUMAN;.;.	K	1854;1875;749;1866;1825	ENSP00000410746:E1875K;ENSP00000440944:E749K;ENSP00000404179:E1866K	ENSP00000345432:E1825K	E	-	1	0	DOCK4	111155871	1.000000	0.71417	0.692000	0.30179	0.989000	0.77384	5.588000	0.67517	1.367000	0.46095	0.655000	0.94253	GAA		0.622	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		10	61	0	0	0	0.00136819	0	10	61				
MET	4233	broad.mit.edu	37	7	116371843	116371843	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:116371843C>G	ENST00000318493.6	+	3	1509	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C	MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.S441C|MET_ENST00000397752.3_Missense_Mutation_p.S441C			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTCTTAACATCTATATCCACC	0.473			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														uc003vij.2		NA		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		0				upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(1321-1323)TCT>TGT		met proto-oncogene isoform b precursor							120.0	113.0	115.0					7																	116371843		1922	4122	6044	SO:0001583	missense	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116371843C>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1322C>G	7.37:g.116371843C>G	ENSP00000317272:p.Ser441Cys					MET_uc010lkh.2_Missense_Mutation_p.S441C|MET_uc011knc.1_Missense_Mutation_p.S441C|MET_uc011knd.1_Missense_Mutation_p.S441C|MET_uc011kne.1_Missense_Mutation_p.S441C|MET_uc011knf.1_Missense_Mutation_p.S441C|MET_uc011kng.1_Missense_Mutation_p.S441C|MET_uc011knh.1_Missense_Mutation_p.S441C|MET_uc011kni.1_Missense_Mutation_p.S441C|MET_uc011knj.1_Missense_Mutation_p.S11C|MET_uc010lkg.2_Missense_Mutation_p.S441C|MET_uc011kna.1_Missense_Mutation_p.S441C|MET_uc011knb.1_Missense_Mutation_p.S441C	p.S441C	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		3	1509	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	441			Extracellular (Potential).|Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1322C>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789411	0.70337	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.06608	3.28;3.28;3.28	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	T	0.32981	-0.9886	10	0.87932	D	0	.	19.5825	0.95473	0.0:1.0:0.0:0.0	.	441;441;441;441;441;441;441;441;441;441;441	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;B5A942;P08581	.;.;.;.;.;.;.;.;.;.;MET_HUMAN	C	441	ENSP00000380860:S441C;ENSP00000317272:S441C;ENSP00000410980:S441C	ENSP00000317272:S441C	S	+	2	0	MET	116159079	1.000000	0.71417	0.994000	0.49952	0.747000	0.42532	5.989000	0.70587	2.624000	0.88883	0.655000	0.94253	TCT		0.473	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			6	49	0	0	0	0.000157383	0	6	49				
CHRM2	1129	broad.mit.edu	37	7	136700368	136700368	+	Missense_Mutation	SNP	C	C	G	rs531986911		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:136700368C>G	ENST00000445907.2	+	3	1284	c.756C>G	c.(754-756)gaC>gaG	p.D252E	hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.D252E|CHRM2_ENST00000397608.3_Missense_Mutation_p.D252E|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.D252E|CHRM2_ENST00000401861.1_Missense_Mutation_p.D252E|CHRM2_ENST00000453373.1_Missense_Mutation_p.D252E|hsa-mir-490_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	252					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCAGCAGTGACGATGGCCTGG	0.507																																							uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(754-756)GAC>GAG		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						56.0	58.0	57.0					7																	136700368		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700368C>G		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.756C>G	7.37:g.136700368C>G	ENSP00000399745:p.Asp252Glu					CHRM2_uc003vtg.1_Missense_Mutation_p.D252E|CHRM2_uc003vtj.1_Missense_Mutation_p.D252E|CHRM2_uc003vtk.1_Missense_Mutation_p.D252E|CHRM2_uc003vtl.1_Missense_Mutation_p.D252E|CHRM2_uc003vtm.1_Missense_Mutation_p.D252E|CHRM2_uc003vti.1_Missense_Mutation_p.D252E|CHRM2_uc003vto.1_Missense_Mutation_p.D252E|CHRM2_uc003vtn.1_Missense_Mutation_p.D252E|uc003vtp.1_Intron	p.D252E	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1379	+			252			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.756C>G	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.009390	0.00043	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.4	-10.4	0.00318	GPCR, rhodopsin-like superfamily (1);	0.797208	0.11928	N	0.516036	T	0.14270	0.0345	N	0.00885	-1.115	0.19300	N	0.999977	B	0.02656	0.0	B	0.12156	0.007	T	0.21690	-1.0238	10	0.02654	T	1	1.25	6.659	0.23004	0.1302:0.4803:0.0727:0.3168	.	252	P08172	ACM2_HUMAN	E	252	ENSP00000399745:D252E;ENSP00000415386:D252E;ENSP00000319984:D252E;ENSP00000380733:D252E;ENSP00000384937:D252E;ENSP00000384401:D252E	ENSP00000319984:D252E	D	+	3	2	CHRM2	136350908	0.000000	0.05858	0.070000	0.20053	0.285000	0.27093	-4.683000	0.00199	-2.463000	0.00535	-1.623000	0.00790	GAC		0.507	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			3	30	0	0	0	6.4e-05	0	3	30				
NOBOX	135935	broad.mit.edu	37	7	144098962	144098962	+	Splice_Site	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:144098962C>G	ENST00000467773.1	-	3	291	c.292G>C	c.(292-294)Ggc>Cgc	p.G98R	NOBOX_ENST00000483238.1_Splice_Site_p.G98R|NOBOX_ENST00000223140.5_Intron	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	98					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGGTACTCACCCCTTGTGAGT	0.453																																							uc011kue.1		NA																	0				ovary(1)	1						c.(292-294)GGC>CGC		NOBOX oogenesis homeobox							71.0	71.0	71.0					7																	144098962		1875	4109	5984	SO:0001630	splice_region_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098962C>G			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.292+1G>C	7.37:g.144098962C>G							p.G98R	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			3	292	-	Melanoma(164;0.14)		98					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.292G>C		.	.	.	.	.	.	.	.	.	.	c	13.58	2.281009	0.40394	.	.	ENSG00000106410	ENST00000483238;ENST00000467773	D;D	0.96716	-3.98;-4.1	2.83	-4.17	0.03857	.	.	.	.	.	D	0.91872	0.7427	N	0.24115	0.695	0.09310	N	1	D	0.56521	0.976	P	0.53722	0.733	D	0.84558	0.0648	8	.	.	.	-6.7039	0.5837	0.00716	0.1749:0.2806:0.2626:0.282	.	98	O60393	NOBOX_HUMAN	R	98	ENSP00000419565:G98R;ENSP00000419457:G98R	.	G	-	1	0	NOBOX	143729895	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.864000	0.04254	-0.819000	0.04323	-0.405000	0.06341	GGC		0.453	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420	Missense_Mutation	5	15	0	0	0	0.00116845	0	5	15				
CSMD1	64478	broad.mit.edu	37	8	4851884	4851884	+	Missense_Mutation	SNP	G	G	T	rs190627256		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:4851884G>T	ENST00000520002.1	-	1	610	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	CSMD1_ENST00000400186.3_Missense_Mutation_p.L19M|CSMD1_ENST00000539096.1_Missense_Mutation_p.L19M|CSMD1_ENST00000602557.1_Missense_Mutation_p.L19M|CSMD1_ENST00000602723.1_Missense_Mutation_p.L19M|CSMD1_ENST00000542608.1_Missense_Mutation_p.L19M|CSMD1_ENST00000537824.1_Missense_Mutation_p.L19M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	19						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)		CTCGCGCACAGCACCAGCAGC	0.657																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(55-57)CTG>ATG		CUB and Sushi multiple domains 1 precursor							54.0	66.0	62.0					8																	4851884		2199	4296	6495	SO:0001583	missense	64478					integral to membrane		g.chr8:4851884G>T			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.55C>A	8.37:g.4851884G>T	ENSP00000430733:p.Leu19Met						p.L19M	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)	1	445	-		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)	19					Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.55C>A		.	.	.	.	.	.	.	.	.	.	G	12.20	1.867222	0.32977	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.31510	1.49;1.61;1.64;1.5;1.95	3.97	3.08	0.35506	.	.	.	.	.	T	0.29850	0.0746	N	0.08118	0	0.23266	N	0.998019	D	0.58970	0.984	D	0.70487	0.969	T	0.07443	-1.0772	9	0.46703	T	0.11	.	6.5726	0.22547	0.1336:0.0:0.8664:0.0	.	19	E5RIG2	.	M	19	ENSP00000383047:L19M;ENSP00000430733:L19M;ENSP00000441462:L19M;ENSP00000446243:L19M;ENSP00000441675:L19M	ENSP00000383047:L19M	L	-	1	2	CSMD1	4839292	0.455000	0.25736	0.862000	0.33874	0.140000	0.21249	1.131000	0.31406	1.718000	0.51419	0.462000	0.41574	CTG		0.657	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	30	1	0	1.024e-07	0.000602214	6.02723e-07	4	30				
RP1L1	94137	broad.mit.edu	37	8	10469299	10469299	+	Missense_Mutation	SNP	G	G	T	rs151054713		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:10469299G>T	ENST00000382483.3	-	4	2532	c.2309C>A	c.(2308-2310)aCa>aAa	p.T770K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	770					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGGCGAGCATGTCCTGGACCC	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16235	0.0		0.0	False		,,,				2504	0.0						uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2308-2310)ACA>AAA		retinitis pigmentosa 1-like 1							50.0	57.0	55.0					8																	10469299		1975	4140	6115	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10469299G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2309C>A	8.37:g.10469299G>T	ENSP00000371923:p.Thr770Lys						p.T770K	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2538	-			770					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.2309C>A	CCDS43708.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.586	-0.084698	0.07097	.	.	ENSG00000183638	ENST00000382483	T	0.03982	3.74	5.11	-5.52	0.02560	.	1.228400	0.06360	N	0.711492	T	0.02342	0.0072	N	0.14661	0.345	0.09310	N	1	B	0.31174	0.311	B	0.28849	0.095	T	0.44345	-0.9334	10	0.51188	T	0.08	-0.7558	0.9439	0.01361	0.4523:0.118:0.1653:0.2644	.	770	A6NKC6	.	K	770	ENSP00000371923:T770K	ENSP00000371923:T770K	T	-	2	0	RP1L1	10506709	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.773000	0.04689	-0.459000	0.07013	0.462000	0.41574	ACA		0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			9	42	1	0	2.17888e-05	0.000442599	0.000121836	9	42				
PTK2B	2185	broad.mit.edu	37	8	27277480	27277480	+	Silent	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:27277480G>T	ENST00000397501.1	+	8	1081	c.273G>T	c.(271-273)ggG>ggT	p.G91G	PTK2B_ENST00000517339.1_Silent_p.G91G|PTK2B_ENST00000346049.5_Silent_p.G91G|PTK2B_ENST00000420218.2_Silent_p.G91G|PTK2B_ENST00000544172.1_Silent_p.G91G|PTK2B_ENST00000338238.4_Silent_p.G91G	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	91	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	AGTGCTATGGGCTGAGGCTGA	0.582																																							uc003xfn.1		NA																	0				lung(3)|ovary(1)|skin(1)	5						c.(271-273)GGG>GGT		PTK2B protein tyrosine kinase 2 beta isoform a							109.0	90.0	97.0					8																	27277480		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27277480G>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.273G>T	8.37:g.27277480G>T						PTK2B_uc003xfo.1_Silent_p.G91G|PTK2B_uc003xfp.1_Silent_p.G91G|PTK2B_uc003xfq.1_Silent_p.G91G	p.G91G	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	8	1081	+		Ovarian(32;2.72e-05)	91			FERM.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.273G>T	CCDS6057.1																																																																																				0.582	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		11	31	1	0	1.67772e-17	0.000978159	1.09296e-16	11	31				
SOX17	64321	broad.mit.edu	37	8	55371727	55371727	+	Silent	SNP	G	G	C	rs559300834	byFrequency	TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:55371727G>C	ENST00000297316.4	+	2	621	c.417G>C	c.(415-417)ccG>ccC	p.P139P		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	139					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			AGTACCGGCCGCGGCGGCGCA	0.736																																							uc003xsb.3		NA																	0				lung(1)	1						c.(415-417)CCG>CCC		SRY-box 17							13.0	15.0	14.0					8																	55371727		2170	4251	6421	SO:0001819	synonymous_variant	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55371727G>C	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.417G>C	8.37:g.55371727G>C							p.P139P	NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	621	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	139						Silent	SNP	ENST00000297316.4	37	c.417G>C	CCDS6159.1																																																																																				0.736	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			3	38	0	0	0	0.000602214	0	3	38				
ZFHX4	79776	broad.mit.edu	37	8	77764192	77764192	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:77764192A>T	ENST00000521891.2	+	10	5483	c.5035A>T	c.(5035-5037)Atc>Ttc	p.I1679F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.I1634F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I1653F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I1634F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1634	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCTGATTTAATCTCTGCTCA	0.428										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4900-4902)ATC>TTC		zinc finger homeodomain 4							98.0	98.0	98.0					8																	77764192		2002	4185	6187	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764192A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5035A>T	8.37:g.77764192A>T	ENSP00000430497:p.Ile1679Phe	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.I1679F|ZFHX4_uc003yaw.1_Missense_Mutation_p.I1634F	p.I1634F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5287	+			1634					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4900A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	8.091	0.774514	0.16051	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50813	0.73;0.78;0.75;0.74	4.41	1.88	0.25563	.	0.000000	0.45126	U	0.000398	T	0.38719	0.1051	L	0.53249	1.67	0.26274	N	0.978374	B;B;B	0.18968	0.019;0.032;0.032	B;B;B	0.21917	0.017;0.037;0.037	T	0.28996	-1.0026	10	0.40728	T	0.16	.	6.8477	0.23996	0.5997:0.3215:0.0788:0.0	.	1634;1634;1679	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	1679;1679;1634;1634;1653	ENSP00000430497:I1679F;ENSP00000399605:I1634F;ENSP00000050961:I1634F;ENSP00000430848:I1653F	ENSP00000050961:I1634F	I	+	1	0	ZFHX4	77926747	0.953000	0.32496	0.371000	0.25978	0.941000	0.58515	1.106000	0.31098	0.281000	0.22233	0.443000	0.29094	ATC		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	106	0	0	0	0.000602214	0	5	106				
ANGPT1	284	broad.mit.edu	37	8	108348418	108348418	+	5'UTR	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:108348418G>A	ENST00000520734.1	-	0	220				ANGPT1_ENST00000520052.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTTGTCTGTTGAAGAAGTTGC	0.343																																							uc003ymn.2		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(535-537)CAA>TAA		angiopoietin 1 precursor							125.0	115.0	119.0					8																	108348418		2203	4300	6503	SO:0001623	5_prime_UTR_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108348418G>A	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.-66C>T	8.37:g.108348418G>A						ANGPT1_uc011lhv.1_5'UTR|ANGPT1_uc003ymo.2_Nonsense_Mutation_p.Q179*	p.Q179*	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		3	1003	-	Breast(1;5.06e-08)		179			Potential.		Q5HYA0	Nonsense_Mutation	SNP	ENST00000520734.1	37	c.535C>T		.	.	.	.	.	.	.	.	.	.	G	43	10.070617	0.99330	.	.	ENSG00000154188	ENST00000517746;ENST00000297450	.	.	.	5.74	5.74	0.90152	.	0.156523	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	19.5096	0.95135	0.0:0.0:1.0:0.0	.	.	.	.	X	179	.	ENSP00000297450:Q179X	Q	-	1	0	ANGPT1	108417594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.004000	0.49513	2.709000	0.92574	0.655000	0.94253	CAA		0.343	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		14	38	0	0	0	0.000308642	0	14	38				
CSMD3	114788	broad.mit.edu	37	8	113504872	113504872	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:113504872C>A	ENST00000297405.5	-	31	5368	c.5124G>T	c.(5122-5124)atG>atT	p.M1708I	CSMD3_ENST00000352409.3_Missense_Mutation_p.M1708I|CSMD3_ENST00000455883.2_Missense_Mutation_p.M1604I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M1668I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1708	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTGCCATTCATTATATTGC	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5122-5124)ATG>ATT		CUB and Sushi multiple domains 3 isoform 1							153.0	140.0	144.0					8																	113504872		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113504872C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5124G>T	8.37:g.113504872C>A	ENSP00000297405:p.Met1708Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.M980I|CSMD3_uc003ynt.2_Missense_Mutation_p.M1668I|CSMD3_uc011lhx.1_Missense_Mutation_p.M1604I	p.M1708I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			31	5283	-			1708			Extracellular (Potential).|Sushi 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5124G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888728	0.52014	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	4.9	4.9	0.64082	Complement control module (2);Sushi/SCR/CCP (3);	0.052193	0.64402	D	0.000001	T	0.51958	0.1705	N	0.26162	0.8	0.43919	D	0.996568	B;B;B	0.23490	0.004;0.005;0.086	B;B;B	0.24155	0.009;0.015;0.051	T	0.45498	-0.9257	10	0.32370	T	0.25	.	18.6241	0.91331	0.0:1.0:0.0:0.0	.	1604;1708;1668	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	1668;1708;1048;1604;1708	ENSP00000345799:M1668I;ENSP00000297405:M1708I;ENSP00000341558:M1048I;ENSP00000412263:M1604I;ENSP00000343124:M1708I	ENSP00000297405:M1708I	M	-	3	0	CSMD3	113574048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.493000	0.81493	2.704000	0.92352	0.585000	0.79938	ATG		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		37	69	1	0	1.30998e-17	0.00111076	8.5756e-17	37	69				
ENPP2	5168	broad.mit.edu	37	8	120569904	120569904	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:120569904C>T	ENST00000075322.6	-	25	2507	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	ENPP2_ENST00000522167.1_Missense_Mutation_p.E452K|ENPP2_ENST00000259486.6_Missense_Mutation_p.E869K|ENPP2_ENST00000427067.2_Missense_Mutation_p.E838K|ENPP2_ENST00000522826.1_Missense_Mutation_p.E842K	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	817					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGAGTTCTTCTACCCATTTT	0.458																																					Melanoma(20;305 879 2501 4818 31020)	Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(2449-2451)GAA>AAA		autotaxin isoform 2 preproprotein							189.0	170.0	176.0					8																	120569904		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569904C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2449G>A	8.37:g.120569904C>T	ENSP00000075322:p.Glu817Lys					ENPP2_uc011lic.1_Missense_Mutation_p.E355K|ENPP2_uc003yor.1_Missense_Mutation_p.E452K|ENPP2_uc003yos.1_Missense_Mutation_p.E869K|ENPP2_uc010mdd.1_Missense_Mutation_p.E842K	p.E817K	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2535	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		817					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2449G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342506	0.95783	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.78126	-0.93;-0.94;-1.15;-0.94;-0.92	5.91	5.91	0.95273	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	D	0.87241	0.6128	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.995;0.999;0.999	D	0.87015	0.2125	10	0.72032	D	0.01	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	355;842;817;869;452	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	K	869;838;452;842;817	ENSP00000259486:E869K;ENSP00000403315:E838K;ENSP00000429476:E452K;ENSP00000428291:E842K;ENSP00000075322:E817K	ENSP00000075322:E817K	E	-	1	0	ENPP2	120639085	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.729000	0.84864	2.808000	0.96608	0.655000	0.94253	GAA		0.458	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			9	176	0	0	0	0.000673444	0	9	176				
FAM135B	51059	broad.mit.edu	37	8	139323096	139323096	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:139323096C>G	ENST00000395297.1	-	3	315	c.145G>C	c.(145-147)Gct>Cct	p.A49P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	49										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCTGCCCAGCGATGGAGGCA	0.557										HNSCC(54;0.14)																													uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(145-147)GCT>CCT		hypothetical protein LOC51059							79.0	76.0	77.0					8																	139323096		2013	4174	6187	SO:0001583	missense	51059							g.chr8:139323096C>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.145G>C	8.37:g.139323096C>G	ENSP00000378710:p.Ala49Pro	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.A49P	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		3	316	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		49					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.145G>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	7.870	0.728032	0.15507	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.15952	2.38	5.1	2.37	0.29283	.	1.031690	0.07758	U	0.949549	T	0.06234	0.0161	N	0.01668	-0.77	0.09310	N	1	B	0.30937	0.301	B	0.27715	0.082	T	0.37820	-0.9689	10	0.27785	T	0.31	-0.8087	7.4762	0.27378	0.0:0.7339:0.0:0.2661	.	49	Q49AJ0	F135B_HUMAN	P	49	ENSP00000378710:A49P	ENSP00000160713:A49P	A	-	1	0	FAM135B	139392278	0.199000	0.23386	0.008000	0.14137	0.624000	0.37722	0.989000	0.29629	0.437000	0.26423	-0.126000	0.14955	GCT		0.557	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		3	79	0	0	0	0.00024832	0	3	79				
CYP11B2	1585	broad.mit.edu	37	8	143996466	143996466	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:143996466T>C	ENST00000323110.2	-	3	593	c.591A>G	c.(589-591)atA>atG	p.I197M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	197					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CCACACCTTCTATGGTGTAGT	0.647									Familial Hyperaldosteronism type I																														uc003yxk.1		NA																	0					0						c.(589-591)ATA>ATG		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						44.0	42.0	42.0					8																	143996466		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143996466T>C	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.591A>G	8.37:g.143996466T>C	ENSP00000325822:p.Ile197Met						p.I197M	NM_000498	NP_000489	P19099	C11B2_HUMAN			3	594	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		197					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.591A>G	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	11.04	1.523121	0.27211	.	.	ENSG00000179142	ENST00000323110	T	0.68331	-0.32	3.44	-5.43	0.02632	.	0.666605	0.14054	N	0.344556	T	0.44414	0.1292	L	0.33624	1.015	0.32414	N	0.550271	B	0.28258	0.205	B	0.29077	0.098	T	0.21075	-1.0256	10	0.44086	T	0.13	.	2.7664	0.05321	0.135:0.2634:0.4379:0.1638	.	197	P19099	C11B2_HUMAN	M	197	ENSP00000325822:I197M	ENSP00000325822:I197M	I	-	3	3	CYP11B2	143993468	0.997000	0.39634	0.041000	0.18516	0.763000	0.43281	0.299000	0.19138	-1.033000	0.03299	0.459000	0.35465	ATA		0.647	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			10	21	0	0	0	0.000442599	0	10	21				
EPPK1	83481	broad.mit.edu	37	8	144941387	144941387	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:144941387G>A	ENST00000525985.1	-	2	6106	c.6035C>T	c.(6034-6036)gCc>gTc	p.A2012V				P58107	EPIPL_HUMAN	epiplakin 1	2012						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCCCCGTGGCCACCTGCAC	0.627																																							uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(6034-6036)GCC>GTC		epiplakin 1							40.0	45.0	43.0					8																	144941387		2148	4254	6402	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941387G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6035C>T	8.37:g.144941387G>A	ENSP00000436337:p.Ala2012Val						p.A2012V	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6048	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2012			Plectin 34.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6035C>T		.	.	.	.	.	.	.	.	.	.	G	19.33	3.806580	0.70682	.	.	ENSG00000227184	ENST00000525985	T	0.78481	-1.18	4.68	4.68	0.58851	.	.	.	.	.	D	0.85656	0.5747	M	0.72118	2.19	0.44852	D	0.997864	D	0.89917	1.0	D	0.79784	0.993	T	0.82912	-0.0222	9	0.21540	T	0.41	.	15.1066	0.72326	0.0:0.0:1.0:0.0	.	2012	E9PPU0	.	V	2012	ENSP00000436337:A2012V	ENSP00000436337:A2012V	A	-	2	0	EPPK1	145013375	1.000000	0.71417	0.985000	0.45067	0.067000	0.16453	9.489000	0.97949	2.424000	0.82194	0.585000	0.79938	GCC		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		19	33	0	0	0	0.00074312	0	19	33				
FOXD4	2298	broad.mit.edu	37	9	118076	118076	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:118076C>T	ENST00000382500.2	-	1	341	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	15					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCGGAGGCTGCGCTGCGGTGT	0.642																																							uc003zfz.2		NA																	0				skin(1)	1						c.(43-45)CGC>CAC		forkhead box D4							60.0	70.0	67.0					9																	118076		2180	4259	6439	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:118076C>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.44G>A	9.37:g.118076C>T	ENSP00000371940:p.Arg15His						p.R15H	NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	342	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	15					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.44G>A	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	10.35	1.325924	0.24080	.	.	ENSG00000170122	ENST00000382500	D	0.95482	-3.72	2.14	-0.292	0.12839	.	0.798396	0.10231	U	0.699580	D	0.88276	0.6393	N	0.24115	0.695	0.09310	N	1	B	0.22211	0.066	B	0.09377	0.004	T	0.77222	-0.2667	10	0.31617	T	0.26	.	4.7217	0.12922	0.0:0.5047:0.3285:0.1669	.	15	Q12950	FOXD4_HUMAN	H	15	ENSP00000371940:R15H	ENSP00000371940:R15H	R	-	2	0	FOXD4	108076	0.000000	0.05858	0.009000	0.14445	0.059000	0.15707	-0.100000	0.10990	0.114000	0.18032	0.291000	0.19559	CGC		0.642	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		16	189	0	0	0	0.00074312	0	16	189				
CER1	9350	broad.mit.edu	37	9	14720260	14720260	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:14720260G>A	ENST00000380911.3	-	2	676	c.632C>T	c.(631-633)cCt>cTt	p.P211L		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	211	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GAACTTGGCAGGCAAACAGTG	0.522																																							uc003zlj.2		NA																	0					0						c.(631-633)CCT>CTT		cerberus 1 precursor							142.0	113.0	123.0					9																	14720260		2203	4300	6503	SO:0001583	missense	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14720260G>A	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.632C>T	9.37:g.14720260G>A	ENSP00000370297:p.Pro211Leu						p.P211L	NM_005454	NP_005445	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	2	677	-			211			CTCK.		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	ENST00000380911.3	37	c.632C>T	CCDS6476.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334619	0.60853	.	.	ENSG00000147869	ENST00000380911	T	0.71222	-0.55	5.52	5.52	0.82312	DAN (1);Cystine knot, C-terminal (2);	0.000000	0.64402	D	0.000005	D	0.87454	0.6181	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89040	0.3448	10	0.87932	D	0	-19.1074	19.7926	0.96466	0.0:0.0:1.0:0.0	.	211	O95813	CER1_HUMAN	L	211	ENSP00000370297:P211L	ENSP00000370297:P211L	P	-	2	0	CER1	14710260	1.000000	0.71417	0.384000	0.26145	0.137000	0.21094	5.908000	0.69916	2.761000	0.94854	0.655000	0.94253	CCT		0.522	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		19	57	0	0	0	0.000958276	0	19	57				
ELAVL2	1993	broad.mit.edu	37	9	23693456	23693456	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:23693456C>T	ENST00000397312.2	-	6	1016	c.742G>A	c.(742-744)Gga>Aga	p.G248R	ELAVL2_ENST00000544538.1_Missense_Mutation_p.G248R|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G277R|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G248R|ELAVL2_ENST00000223951.6_Intron	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	248					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTCTTTACTCCATAAGCCATA	0.378																																							uc003zpu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(742-744)GGA>AGA		ELAV (embryonic lethal, abnormal vision,							206.0	190.0	195.0					9																	23693456		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23693456C>T	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.742G>A	9.37:g.23693456C>T	ENSP00000380479:p.Gly248Arg					ELAVL2_uc003zps.2_Intron|ELAVL2_uc003zpt.2_Intron|ELAVL2_uc003zpv.2_Missense_Mutation_p.G248R|ELAVL2_uc003zpw.2_Intron	p.G248R	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	6	1017	-			248					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.742G>A	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015464	0.93404	.	.	ENSG00000107105	ENST00000397312;ENST00000544538;ENST00000380117;ENST00000359598	T;T;T	0.11277	2.79;2.79;2.79	6.04	6.04	0.98038	.	0.046671	0.85682	D	0.000000	T	0.19167	0.0460	M	0.72894	2.215	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	T	0.01583	-1.1319	10	0.49607	T	0.09	.	20.5891	0.99427	0.0:1.0:0.0:0.0	.	248	Q12926	ELAV2_HUMAN	R	248;248;248;276	ENSP00000380479:G248R;ENSP00000440998:G248R;ENSP00000369460:G248R	ENSP00000352612:G276R	G	-	1	0	ELAVL2	23683456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.436000	0.80404	2.876000	0.98609	0.650000	0.86243	GGA		0.378	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		12	83	0	0	0	0.00185496	0	12	83				
PCSK5	5125	broad.mit.edu	37	9	78722189	78722189	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:78722189G>T	ENST00000545128.1	+	9	1668	c.1130G>T	c.(1129-1131)cGt>cTt	p.R377L	PCSK5_ENST00000376752.4_Missense_Mutation_p.R377L|PCSK5_ENST00000376767.3_Missense_Mutation_p.R377L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	377	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGAGGCAGCGTTGCACGGAC	0.478																																							uc004ajz.2		NA																	0				ovary(2)|skin(1)	3						c.(1129-1131)CGT>CTT		proprotein convertase subtilisin/kexin type 5							67.0	58.0	61.0					9																	78722189		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78722189G>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1130G>T	9.37:g.78722189G>T	ENSP00000446280:p.Arg377Leu					PCSK5_uc004ajy.2_Missense_Mutation_p.R377L|PCSK5_uc004aka.2_RNA	p.R377L	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			9	1668	+			377			Catalytic.		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1130G>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	36	5.714376	0.96830	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	6.16	6.16	0.99307	.	0.096722	0.64402	D	0.000001	T	0.80778	0.4688	L	0.56199	1.76	0.80722	D	1	B;B	0.21821	0.048;0.061	B;B	0.26094	0.066;0.061	T	0.74957	-0.3487	10	0.59425	D	0.04	-26.1838	20.4549	0.99139	0.0:0.0:1.0:0.0	.	377;377	Q92824-2;B1AMG5	.;.	L	377;80;377;377;377;50	ENSP00000446280:R377L;ENSP00000365958:R377L;ENSP00000365943:R377L;ENSP00000411654:R50L	ENSP00000365943:R377L	R	+	2	0	PCSK5	77912009	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	9.194000	0.94962	2.937000	0.99478	0.650000	0.86243	CGT		0.478	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	43	1	0	4.68919e-08	0.000673444	2.7722e-07	11	43				
COL15A1	1306	broad.mit.edu	37	9	101812151	101812151	+	Missense_Mutation	SNP	C	C	A	rs372244714		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:101812151C>A	ENST00000375001.3	+	30	3301	c.2878C>A	c.(2878-2880)Ccc>Acc	p.P960T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	960	Nonhelical region 6 (NC6).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTTCCCAATACCCGTCCGACC	0.493																																							uc004azb.1		NA																	0				ovary(6)	6						c.(2878-2880)CCC>ACC		alpha 1 type XV collagen precursor							249.0	206.0	221.0					9																	101812151		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101812151C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2878C>A	9.37:g.101812151C>A	ENSP00000364140:p.Pro960Thr						p.P960T	NM_001855	NP_001846	P39059	COFA1_HUMAN			30	3084	+		Acute lymphoblastic leukemia(62;0.0562)	960			Nonhelical region 6 (NC6).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2878C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294932	0.23564	.	.	ENSG00000204291	ENST00000375001	T	0.32023	1.47	6.06	5.07	0.68467	C-type lectin fold (1);	0.307026	0.30890	N	0.008674	T	0.29158	0.0725	L	0.50333	1.59	0.26457	N	0.97551	P	0.48407	0.91	P	0.45099	0.469	T	0.28618	-1.0038	10	0.44086	T	0.13	-10.034	7.1489	0.25599	0.0:0.8643:0.0:0.1357	.	960	P39059	COFA1_HUMAN	T	960	ENSP00000364140:P960T	ENSP00000364140:P960T	P	+	1	0	COL15A1	100851972	1.000000	0.71417	0.539000	0.28077	0.068000	0.16541	2.678000	0.46900	2.882000	0.98803	0.655000	0.94253	CCC		0.493	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		11	97	1	0	0.00136819	0.00136819	0.00734447	11	97				
GRIN3A	116443	broad.mit.edu	37	9	104356919	104356919	+	Intron	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:104356919C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.A98A	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AAATGCTGAACGCAAACCTCA	0.537																																							uc004bbr.2		NA																	0				ovary(1)|skin(1)	2						c.(292-294)GCG>GCA		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						149.0	135.0	140.0					9																	104356919		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356919C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15277G>A	9.37:g.104356919C>T						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	p.A98A	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	365	-		Acute lymphoblastic leukemia(62;0.0527)	95			EF-hand 3.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.294G>A	CCDS6758.1																																																																																				0.537	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			16	88	0	0	0	0.000422831	0	16	88				
TBL1X	6907	broad.mit.edu	37	X	9660219	9660219	+	Silent	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:9660219C>A	ENST00000217964.7	+	9	1456	c.816C>A	c.(814-816)ctC>ctA	p.L272L	TBL1X_ENST00000407597.2_Silent_p.L272L|TBL1X_ENST00000380961.1_Silent_p.L221L|TBL1X_ENST00000424279.1_Silent_p.L221L|TBL1X_ENST00000536365.1_Silent_p.L221L	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	272					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CCACCCAGCTCGTGTTGAGGC	0.522																																							uc010ndq.2		NA																	0				ovary(1)	1						c.(814-816)CTC>CTA		transducin beta-like 1X isoform a							109.0	105.0	107.0					X																	9660219		2203	4300	6503	SO:0001819	synonymous_variant	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9660219C>A	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.816C>A	X.37:g.9660219C>A						TBL1X_uc004csq.3_Silent_p.L221L|TBL1X_uc010ndr.2_Silent_p.L221L|TBL1X_uc004csr.2_Silent_p.L272L|TBL1X_uc004css.2_Silent_p.L223L	p.L272L	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN			9	1184	+		Hepatocellular(5;0.000888)	272					A8K044|A8K4J7|Q86UY2	Silent	SNP	ENST00000217964.7	37	c.816C>A	CCDS14133.1																																																																																				0.522	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		18	97	1	0	3.32936e-07	0.00074312	1.92586e-06	18	97				
IL1RAPL1	11141	broad.mit.edu	37	X	29414549	29414549	+	Silent	SNP	C	C	A	rs372833369		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:29414549C>A	ENST00000378993.1	+	4	1210	c.537C>A	c.(535-537)atC>atA	p.I179I	IL1RAPL1_ENST00000302196.4_Silent_p.I179I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	179	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AACCTGAAATCCTTTGGTACA	0.378																																							uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(535-537)ATC>ATA		interleukin 1 receptor accessory protein-like 1		C		2,3831		0,2,1629,571	102.0	99.0	100.0		537	4.4	1.0	X		100	0,6727		0,0,2428,1871	no	coding-synonymous	IL1RAPL1	NM_014271.3		0,2,4057,2442	AA,AC,CC,C		0.0,0.0522,0.0189		179/697	29414549	2,10558	2202	4299	6501	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29414549C>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.537C>A	X.37:g.29414549C>A							p.I179I	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			4	1045	+			179			Ig-like C2-type 2.|Extracellular (Potential).		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.537C>A	CCDS14218.1																																																																																				0.378	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		13	64	1	0	3.27435e-08	0.000219431	1.94433e-07	13	64				
MAGEB16	139604	broad.mit.edu	37	X	35820400	35820400	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:35820400G>A	ENST00000399989.1	+	2	366	c.87G>A	c.(85-87)caG>caA	p.Q29Q	MAGEB16_ENST00000399985.1_Silent_p.Q29Q|MAGEB16_ENST00000399987.1_Silent_p.Q29Q|MAGEB16_ENST00000399988.1_Silent_p.Q29Q|MAGEB16_ENST00000399992.1_Silent_p.Q61Q	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	29										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGTTGCACAGGTCTCCAAGG	0.557																																							uc010ngt.1		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(85-87)CAG>CAA		melanoma antigen family B, 16							41.0	42.0	42.0					X																	35820400		2038	4177	6215	SO:0001819	synonymous_variant	139604							g.chrX:35820400G>A		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.87G>A	X.37:g.35820400G>A							p.Q29Q	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			2	366	+			29					A8MU30	Silent	SNP	ENST00000399989.1	37	c.87G>A	CCDS43927.1																																																																																				0.557	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			7	27	0	0	0	8.12818e-05	0	7	27				
DGKK	139189	broad.mit.edu	37	X	50133388	50133388	+	RNA	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:50133388C>T	ENST00000376025.2	-	0	1923							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTGGGAGTCTCACGAATCATC	0.398																																							uc010njr.1		NA																	0				ovary(1)|kidney(1)	2						c.(1864-1866)GAG>AAG		diacylglycerol kinase kappa							181.0	164.0	169.0					X																	50133388		1895	4114	6009			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50133388C>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50133388C>T							p.E622K	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			12	1924	-	Ovarian(276;0.236)		622			DAGKc.		B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.1864G>A																																																																																					0.398	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		23	119	0	0	0	0.00047179	0	23	119				
BRWD3	254065	broad.mit.edu	37	X	79932261	79932261	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:79932261T>A	ENST00000373275.4	-	41	5472	c.5256A>T	c.(5254-5256)caA>caT	p.Q1752H	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1752					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCCTCCTGCCTTGGTTTCTTG	0.418																																							uc004edt.2		NA																	0				ovary(4)	4						c.(5254-5256)CAA>CAT		bromodomain and WD repeat domain containing 3							106.0	86.0	93.0					X																	79932261		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932261T>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5256A>T	X.37:g.79932261T>A	ENSP00000362372:p.Gln1752His					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.Q1348H|BRWD3_uc004edp.2_Missense_Mutation_p.Q1581H|BRWD3_uc004edq.2_Missense_Mutation_p.Q1348H|BRWD3_uc010nmj.1_Missense_Mutation_p.Q1348H|BRWD3_uc004edr.2_Missense_Mutation_p.Q1422H|BRWD3_uc004eds.2_Missense_Mutation_p.Q1348H|BRWD3_uc004edu.2_Missense_Mutation_p.Q1422H|BRWD3_uc004edv.2_Missense_Mutation_p.Q1348H|BRWD3_uc004edw.2_Missense_Mutation_p.Q1348H|BRWD3_uc004edx.2_Missense_Mutation_p.Q1348H|BRWD3_uc004edy.2_Missense_Mutation_p.Q1348H|BRWD3_uc004edz.2_Missense_Mutation_p.Q1422H|BRWD3_uc004eea.2_Missense_Mutation_p.Q1422H|BRWD3_uc004eeb.2_Missense_Mutation_p.Q1348H|uc004edn.1_5'Flank	p.Q1752H	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			41	5519	-			1752					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.5256A>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.272925	0.23221	.	.	ENSG00000165288	ENST00000373275	T	0.64618	-0.11	4.1	4.1	0.47936	.	0.063315	0.64402	D	0.000004	T	0.46483	0.1395	L	0.29908	0.895	0.43678	D	0.996113	P	0.48911	0.917	B	0.44278	0.445	T	0.40887	-0.9539	9	.	.	.	-9.336	4.0841	0.09939	0.0:0.3148:0.0:0.6852	.	1752	Q6RI45	BRWD3_HUMAN	H	1752	ENSP00000362372:Q1752H	.	Q	-	3	2	BRWD3	79818917	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.612000	0.46343	1.650000	0.50662	0.356000	0.21956	CAA		0.418	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		12	59	0	0	0	0.00136819	0	12	59				
DCX	1641	broad.mit.edu	37	X	110654193	110654193	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:110654193G>A	ENST00000338081.3	-	1	181	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	DCX_ENST00000356915.2_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000371993.2_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	4					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TGAAGGGGGAGTGTTTTCATT	0.453																																							uc004epd.2		NA																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(10-12)CTC>TTC		doublecortin isoform a							125.0	108.0	114.0					X																	110654193		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110654193G>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.10C>T	X.37:g.110654193G>A	ENSP00000337697:p.Leu4Phe					DCX_uc011msv.1_Missense_Mutation_p.L4F|DCX_uc004epe.2_Intron|DCX_uc004epf.2_Intron|DCX_uc004epg.2_Intron	p.L4F	NM_000555	NP_000546	O43602	DCX_HUMAN			1	182	-			4					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.10C>T	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	g	7.496	0.651760	0.14516	.	.	ENSG00000077279	ENST00000338081	T	0.27720	1.65	4.46	1.74	0.24563	.	4.873430	0.00738	N	0.000998	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25082	-1.0142	10	0.87932	D	0	.	5.0344	0.14426	0.2717:0.1509:0.5774:0.0	.	4	O43602	DCX_HUMAN	F	4	ENSP00000337697:L4F	ENSP00000337697:L4F	L	-	1	0	DCX	110540849	0.160000	0.22878	0.001000	0.08648	0.937000	0.57800	0.312000	0.19397	0.228000	0.21019	0.509000	0.49947	CTC		0.453	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		12	84	0	0	0	0.00136819	0	12	84				
DCAF12L2	340578	broad.mit.edu	37	X	125298801	125298801	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:125298801A>T	ENST00000360028.2	-	1	1133	c.1107T>A	c.(1105-1107)caT>caA	p.H369Q	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.H369Q			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	369										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCAGGGAACCATGGCCGGTGC	0.642																																							uc004euk.1		NA																	0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(1105-1107)CAT>CAA		DDB1 and CUL4 associated factor 12-like 2							57.0	62.0	60.0					X																	125298801		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298801A>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1107T>A	X.37:g.125298801A>T	ENSP00000353128:p.His369Gln						p.H369Q	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	1134	-			369			WD 4.		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1107T>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.465514	0.26335	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.62364	0.03;0.03	4.05	-4.02	0.04034	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.209748	0.24220	N	0.040446	T	0.27027	0.0662	N	0.04018	-0.295	0.29774	N	0.834529	B	0.16166	0.016	B	0.09377	0.004	T	0.21793	-1.0235	10	0.14252	T	0.57	.	5.4394	0.16500	0.3614:0.2707:0.368:0.0	.	369	Q5VW00	DC122_HUMAN	Q	369	ENSP00000441489:H369Q;ENSP00000353128:H369Q	ENSP00000353128:H369Q	H	-	3	2	DCAF12L2	125126482	0.021000	0.18746	0.801000	0.32222	0.954000	0.61252	-1.018000	0.03626	-0.932000	0.03742	0.441000	0.28932	CAT		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		13	80	0	0	0	0.000308642	0	13	80				
SPANXN2	494119	broad.mit.edu	37	X	142795254	142795254	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:142795254C>A	ENST00000370498.1	-	2	1177	c.424G>T	c.(424-426)Gac>Tac	p.D142Y		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	142										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGATGAGTCCAGGTCTTCG	0.512																																							uc004fbz.2		NA																	0				ovary(1)	1						c.(424-426)GAC>TAC		SPANX-N2 protein							174.0	163.0	166.0					X																	142795254		2203	4298	6501	SO:0001583	missense	494119							g.chrX:142795254C>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.424G>T	X.37:g.142795254C>A	ENSP00000359529:p.Asp142Tyr						p.D142Y	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1178	-	Acute lymphoblastic leukemia(192;6.56e-05)		142					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.424G>T	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	N	0.203	-1.042828	0.01997	.	.	ENSG00000203924	ENST00000370498	T	0.07567	3.18	0.763	-1.53	0.08611	.	.	.	.	.	T	0.06917	0.0176	L	0.52573	1.65	0.09310	N	1	B	0.18863	0.031	B	0.06405	0.002	T	0.44467	-0.9326	8	0.66056	D	0.02	.	.	.	.	.	142	Q5MJ10	SPXN2_HUMAN	Y	142	ENSP00000359529:D142Y	ENSP00000359529:D142Y	D	-	1	0	SPANXN2	142622920	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.442000	0.06871	-4.325000	0.00056	-3.581000	0.00029	GAC		0.512	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		88	306	1	0	1.67448e-56	0.000781405	1.14068e-55	88	306				
SLITRK2	84631	broad.mit.edu	37	X	144905488	144905488	+	Silent	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:144905488G>C	ENST00000370490.1	+	1	5800	c.1545G>C	c.(1543-1545)ctG>ctC	p.L515L	SLITRK2_ENST00000434188.2_Silent_p.L515L|SLITRK2_ENST00000428560.2_Silent_p.L515L|SLITRK2_ENST00000413937.2_Silent_p.L515L|SLITRK2_ENST00000447897.2_Silent_p.L515L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	515					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGGTTCTGGATCAGCTCC	0.502																																							uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1543-1545)CTG>CTC		SLIT and NTRK-like family, member 2 precursor							72.0	76.0	74.0					X																	144905488		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144905488G>C	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1545G>C	X.37:g.144905488G>C						SLITRK2_uc010nsp.2_Silent_p.L515L|SLITRK2_uc010nso.2_Silent_p.L515L|SLITRK2_uc011mwq.1_Silent_p.L515L|SLITRK2_uc011mwr.1_Silent_p.L515L|SLITRK2_uc011mws.1_Silent_p.L515L|SLITRK2_uc004fcg.2_Silent_p.L515L|SLITRK2_uc011mwt.1_Silent_p.L515L	p.L515L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2535	+	Acute lymphoblastic leukemia(192;6.56e-05)		515			Extracellular (Potential).|LRR 12.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.1545G>C	CCDS14680.1																																																																																				0.502	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		13	104	0	0	0	0.00185496	0	13	104				
CNGA2	1260	broad.mit.edu	37	X	150912290	150912290	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:150912290G>A	ENST00000329903.4	+	6	1348	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	439					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAGGGCTGAGATAGCCAT	0.498																																							uc004fey.1		NA																	0				breast(3)	3						c.(1315-1317)GAG>AAG		cyclic nucleotide gated channel alpha 2							75.0	70.0	72.0					X																	150912290		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912290G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1315G>A	X.37:g.150912290G>A	ENSP00000328478:p.Glu439Lys						p.E439K	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1539	+	Acute lymphoblastic leukemia(192;6.56e-05)		439			Extracellular (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1315G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278793	0.80692	.	.	ENSG00000183862	ENST00000329903	D	0.97186	-4.28	5.26	5.26	0.73747	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	M	0.90425	3.115	0.58432	D	0.999999	D	0.69078	0.997	D	0.75020	0.985	D	0.99744	1.1016	10	0.87932	D	0	.	15.2177	0.73281	0.0:0.0:1.0:0.0	.	439	Q16280	CNGA2_HUMAN	K	439	ENSP00000328478:E439K	ENSP00000328478:E439K	E	+	1	0	CNGA2	150662946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.183000	0.69458	0.529000	0.55759	GAG		0.498	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		12	81	0	0	0	0.00136819	0	12	81				
TRPC6	7225	broad.mit.edu	37	11	101323821	101323821	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:101323821delA	ENST00000344327.3	-	13	3085	c.2661delT	c.(2659-2661)attfs	p.I887fs	TRPC6_ENST00000348423.4_Frame_Shift_Del_p.I771fs|TRPC6_ENST00000532133.1_Frame_Shift_Del_p.I809fs|TRPC6_ENST00000360497.4_Frame_Shift_Del_p.I832fs	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	887					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGTCCTGCTTAATTTCCTTCA	0.393																																					Colon(166;1315 1927 11094 12848 34731)	Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2659-2661)ATTfs		transient receptor potential cation channel,							121.0	118.0	119.0					11																	101323821		2203	4300	6503	SO:0001589	frameshift_variant	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101323821delA	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2661delT	11.37:g.101323821delA	ENSP00000340913:p.Ile887fs					TRPC6_uc009ywy.2_Frame_Shift_Del_p.I771fs	p.I887fs	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	13	3086	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	887			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Frame_Shift_Del	DEL	ENST00000344327.3	37	c.2661delT	CCDS8311.1																																																																																				0.393	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		12	68	NA	NA	NA	NA	NA	12	68	---	---	---	---
TIFA	92610	broad.mit.edu	37	4	113199144	113199145	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:113199144_113199145insA	ENST00000361717.3	-	2	709_710	c.428_429insT	c.(427-429)ttafs	p.L143fs	TIFA_ENST00000500655.2_Frame_Shift_Ins_p.L143fs	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	143					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		ATCTTGGAGATAAAATAAATTG	0.465																																							uc003ial.2		NA																	0				breast(1)	1						c.(427-429)TTAfs		TRAF-interacting protein with a																																				SO:0001589	frameshift_variant	92610						protein binding	g.chr4:113199144_113199145insA	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.429dupT	4.37:g.113199148_113199148dupA	ENSP00000354911:p.Leu143fs						p.L143fs	NM_052864	NP_443096	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	710_711	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	143						Frame_Shift_Ins	INS	ENST00000361717.3	37	c.428_429insT	CCDS34051.1																																																																																				0.465	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		7	39	NA	NA	NA	NA	NA	7	39	---	---	---	---
APC	324	broad.mit.edu	37	5	112177967	112177968	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:112177967_112177968delCG	ENST00000457016.1	+	16	7056_7057	c.6676_6677delCG	c.(6676-6678)cgafs	p.R2226fs	APC_ENST00000257430.4_Frame_Shift_Del_p.R2226fs|APC_ENST00000508376.2_Frame_Shift_Del_p.R2226fs|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2226	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCAATCTCTCGAGGCAGGACA	0.401		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Unknown(1)	p.?(1)	skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(6676-6678)CGAfs		adenomatous polyposis coli																																				SO:0001589	frameshift_variant	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112177967_112177968delCG	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6676_6677delCG	5.37:g.112177967_112177968delCG	ENSP00000413133:p.Arg2226fs	TSP Lung(16;0.13)				APC_uc011cvt.1_Frame_Shift_Del_p.R2208fs|APC_uc003kpz.3_Frame_Shift_Del_p.R2226fs|APC_uc003kpy.3_Frame_Shift_Del_p.R2226fs|APC_uc010jbz.2_Frame_Shift_Del_p.R1943fs|APC_uc010jca.2_Frame_Shift_Del_p.R1526fs	p.R2226fs	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	7056_7057	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2226			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	c.6676_6677delCG	CCDS4107.1																																																																																				0.401	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		19	125	NA	NA	NA	NA	NA	19	125	---	---	---	---
DDX56	54606	broad.mit.edu	37	7	44610424	44610424	+	Frame_Shift_Del	DEL	T	T	-			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:44610424delT	ENST00000258772.5	-	7	1049	c.943delA	c.(943-945)actfs	p.T315fs	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Intron	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	315	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TCAGCATCAGTTGCTATGACA	0.572																																							uc003tlg.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(943-945)ACTfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 56							98.0	98.0	98.0					7																	44610424		2203	4300	6503	SO:0001589	frameshift_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44610424delT	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.943delA	7.37:g.44610424delT	ENSP00000258772:p.Thr315fs					DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Frame_Shift_Del_p.T251fs|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Intron|DDX56_uc010kyh.1_RNA	p.T315fs	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN			7	1586	-			315			Helicase C-terminal.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Frame_Shift_Del	DEL	ENST00000258772.5	37	c.943delA	CCDS5492.1																																																																																				0.572	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		100	113	NA	NA	NA	NA	NA	100	113	---	---	---	---
