#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
COL11A1	1301	broad.mit.edu	37	1	103405905	103405905	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr1:103405905G>C	ENST00000370096.3	-	43	3674	c.3362C>G	c.(3361-3363)tCc>tGc	p.S1121C	COL11A1_ENST00000512756.1_Missense_Mutation_p.S1005C|COL11A1_ENST00000353414.4_Missense_Mutation_p.S1082C|COL11A1_ENST00000358392.2_Missense_Mutation_p.S1133C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1121	Triple-helical region.				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)		TTCCCCAGGGGAGCCGGCAGG	0.473																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3361-3363)TCC>TGC		alpha 1 type XI collagen isoform A							53.0	60.0	57.0					1																	103405905		2203	4300	6503	SO:0001583	missense	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.chr1:103405905G>C	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.3362C>G	1.37:g.103405905G>C	ENSP00000359114:p.Ser1121Cys					COL11A1_uc001duk.2_Missense_Mutation_p.S317C|COL11A1_uc001dum.2_Missense_Mutation_p.S1133C|COL11A1_uc001dun.2_Missense_Mutation_p.S1082C|COL11A1_uc009weh.2_Missense_Mutation_p.S1005C	p.S1121C	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	43	3680	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1121			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3362C>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858120	0.32791	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	5.46	4.55	0.56014	.	0.200149	0.44902	D	0.000410	D	0.94443	0.8212	L	0.39514	1.22	0.40973	D	0.984714	P;D;D;P;P	0.71674	0.679;0.998;0.969;0.79;0.785	B;D;P;B;P	0.87578	0.338;0.998;0.634;0.338;0.54	D	0.95341	0.8438	10	0.66056	D	0.02	.	14.389	0.66965	0.0712:0.0:0.9288:0.0	.	1005;1082;1133;1121;341	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	C	1121;1133;1082;341;1005	ENSP00000359114:S1121C;ENSP00000351163:S1133C;ENSP00000302551:S1082C;ENSP00000426533:S1005C	ENSP00000302551:S1082C	S	-	2	0	COL11A1	103178493	1.000000	0.71417	0.972000	0.41901	0.062000	0.15995	9.869000	0.99810	1.312000	0.45043	-0.157000	0.13467	TCC		0.473	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		17	33	0	0	0	0	17	33				
SCNM1	79005	broad.mit.edu	37	1	151143016	151143016	+	IGR	SNP	T	T	C	rs143662204	byFrequency	TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr1:151143016T>C	ENST00000368905.4	+	0	2016				TMOD4_ENST00000416280.2_Missense_Mutation_p.M263V	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTTCGGGTCATGGCCTGGGCT	0.542													T|||	7	0.00139776	0.0	0.0029	5008	,	,		20691	0.0		0.005	False		,,,				2504	0.0					uc001exc.3		NA																	0				ovary(1)	1						c.(994-996)ATG>GTG		tropomodulin 4 (muscle)		T	VAL/MET	9,4397	15.5+/-35.6	0,9,2194	170.0	160.0	163.0		994	1.9	1.0	1	dbSNP_134	163	80,8520	45.8+/-104.6	1,78,4221	yes	missense	TMOD4	NM_013353.2	21	1,87,6415	CC,CT,TT		0.9302,0.2043,0.6843	benign	332/346	151143016	89,12917	2203	4300	6503	SO:0001628	intergenic_variant	29765				muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr1:151143016T>C	BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258		1.37:g.151143016T>C						TMOD4_uc001exb.2_Missense_Mutation_p.M160V|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.M263V	p.M332V	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		9	1184	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		332					B4DWR1|Q5JR74	Missense_Mutation	SNP	ENST00000368905.4	37	c.994A>G	CCDS987.1	7	0.003205128205128205	0	0.0	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	T	13.71	2.318955	0.41096	0.002043	0.009302	ENSG00000163157	ENST00000295314;ENST00000416280	D;D	0.91843	-2.92;-2.92	5.88	1.93	0.25924	.	0.177587	0.64402	N	0.000010	T	0.73265	0.3565	N	0.12746	0.255	0.80722	D	1	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.68424	-0.5412	10	0.59425	D	0.04	-14.4072	9.9734	0.41768	0.0:0.234:0.0:0.766	.	263;332;332	B7Z6N9;Q9NZQ9;B2R891	.;TMOD4_HUMAN;.	V	332;263	ENSP00000295314:M332V;ENSP00000414180:M263V	ENSP00000295314:M332V	M	-	1	0	TMOD4	149409640	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.746000	0.38288	0.498000	0.27948	0.459000	0.35465	ATG		0.542	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2	NM_024041		6	123	0	0	0	0	6	123				
OLFML2B	25903	broad.mit.edu	37	1	161954641	161954641	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr1:161954641T>C	ENST00000294794.3	-	7	2027	c.1604A>G	c.(1603-1605)tAc>tGc	p.Y535C	OLFML2B_ENST00000367938.1_Missense_Mutation_p.Y18C|OLFML2B_ENST00000367940.2_Missense_Mutation_p.Y536C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	535	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGTGTTGCCGTAGTAATAGTT	0.542																																						uc001gbu.2		NA																	0				skin(1)	1						c.(1603-1605)TAC>TGC		olfactomedin-like 2B precursor							275.0	255.0	262.0					1																	161954641		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161954641T>C	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1604A>G	1.37:g.161954641T>C	ENSP00000294794:p.Tyr535Cys					OLFML2B_uc001gbt.2_Missense_Mutation_p.Y18C|OLFML2B_uc010pkq.1_Missense_Mutation_p.Y536C	p.Y535C	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		7	2028	-	all_hematologic(112;0.156)		535			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1604A>G	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.671141	0.67814	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.88975	-2.45;-2.45;-2.45	4.18	4.18	0.49190	Olfactomedin-like (3);	.	.	.	.	D	0.92867	0.7731	M	0.85542	2.76	0.47341	D	0.999394	D;D	0.89917	1.0;0.998	D;D	0.73708	0.981;0.951	D	0.93987	0.7263	8	0.87932	D	0	.	11.2537	0.49041	0.0:0.0:0.0:1.0	.	536;535	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	C	535;536;18	ENSP00000294794:Y535C;ENSP00000356917:Y536C;ENSP00000356915:Y18C	ENSP00000294794:Y535C	Y	-	2	0	OLFML2B	160221265	1.000000	0.71417	0.988000	0.46212	0.863000	0.49368	7.722000	0.84778	1.756000	0.51951	0.379000	0.24179	TAC		0.542	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		42	79	0	0	0	0	42	79				
ARID5B	84159	broad.mit.edu	37	10	63851924	63851924	+	Missense_Mutation	SNP	C	C	T	rs199637139		TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr10:63851924C>T	ENST00000279873.7	+	10	3112	c.2702C>T	c.(2701-2703)aCg>aTg	p.T901M	ARID5B_ENST00000309334.5_Missense_Mutation_p.T658M	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	901					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GAAGCCCCTACGGATGATCAG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		17448	0.001		0.0	False		,,,				2504	0.0					uc001jlt.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(2701-2703)ACG>ATG		AT rich interactive domain 5B (MRF1-like)							59.0	63.0	61.0					10																	63851924		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63851924C>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2702C>T	10.37:g.63851924C>T	ENSP00000279873:p.Thr901Met						p.T901M	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			10	2728	+	Prostate(12;0.016)|all_hematologic(501;0.215)		901					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.2702C>T	CCDS31208.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.365	0.833885	0.16820	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.47177	0.85;0.85	5.87	5.87	0.94306	.	0.952539	0.08864	N	0.882557	T	0.36853	0.0982	L	0.29908	0.895	0.09310	N	1	P	0.48350	0.909	B	0.35182	0.197	T	0.37361	-0.9709	10	0.72032	D	0.01	-6.1274	13.4064	0.60915	0.0:0.9285:0.0:0.0715	.	901	Q14865	ARI5B_HUMAN	M	901;658	ENSP00000279873:T901M;ENSP00000308862:T658M	ENSP00000279873:T901M	T	+	2	0	ARID5B	63521930	0.733000	0.28132	0.022000	0.16811	0.188000	0.23474	2.842000	0.48230	2.779000	0.95612	0.655000	0.94253	ACG		0.552	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		28	46	0	0	0	0	28	46				
KCNMA1	3778	broad.mit.edu	37	10	78708933	78708933	+	Silent	SNP	C	C	T	rs143184179		TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr10:78708933C>T	ENST00000286628.8	-	22	2675	c.2676G>A	c.(2674-2676)acG>acA	p.T892T	KCNMA1_ENST00000286627.5_Silent_p.T834T|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000406533.3_Silent_p.T896T|KCNMA1_ENST00000372443.1_Silent_p.T834T|RP11-443A13.5_ENST00000608791.1_RNA|KCNMA1_ENST00000404771.3_Silent_p.T892T|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000354353.5_Silent_p.T895T|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Silent_p.T875T|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Silent_p.T834T	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	892					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AGTTATGAAGCGTCTCCCATT	0.458																																						uc001jxn.2		NA																	0				pancreas(2)|ovary(1)	3						c.(2674-2676)ACG>ACA		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						156.0	147.0	150.0					10																	78708933		2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78708933C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2676G>A	10.37:g.78708933C>T						KCNMA1_uc001jxj.2_Silent_p.T838T|KCNMA1_uc001jxk.1_Silent_p.T510T|KCNMA1_uc009xrt.1_Silent_p.T683T|KCNMA1_uc001jxl.1_Silent_p.T517T|KCNMA1_uc001jxo.2_Silent_p.T875T|KCNMA1_uc001jxm.2_Silent_p.T834T|KCNMA1_uc001jxq.2_Silent_p.T837T	p.T892T	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		22	2853	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		892			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.2676G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	10.12|10.12	1.263388|1.263388	0.23051|0.23051	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.93|5.93	-11.9|-11.9	0.00025|0.00025	.|.	.|.	.|.	.|.	.|.	T|T	0.46983|0.46983	0.1421|0.1421	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61441|0.61441	-0.7062|-0.7062	4|4	.|.	.|.	.|.	-10.3177|-10.3177	10.4174|10.4174	0.44329|0.44329	0.1332:0.0727:0.0666:0.7275|0.1332:0.0727:0.0666:0.7275	.|.	.|.	.|.	.|.	T|H	823;542|785	.|.	.|.	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78378939|78378939	0.000000|0.000000	0.05858|0.05858	0.401000|0.401000	0.26359|0.26359	0.994000|0.994000	0.84299|0.84299	-2.667000|-2.667000	0.00846|0.00846	-2.280000|-2.280000	0.00675|0.00675	-0.126000|-0.126000	0.14955|0.14955	GCT|CGC		0.458	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		5	117	0	0	0	0	5	117				
ENTPD1	953	broad.mit.edu	37	10	97607265	97607265	+	Silent	SNP	C	C	T	rs199648967	byFrequency	TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr10:97607265C>T	ENST00000371205.4	+	7	1159	c.876C>T	c.(874-876)aaC>aaT	p.N292N	ENTPD1_ENST00000453258.2_Silent_p.N299N|ENTPD1_ENST00000371207.3_Silent_p.N304N|ENTPD1_ENST00000539125.1_Silent_p.N154N|ENTPD1_ENST00000371203.5_Silent_p.N154N|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000543964.1_Silent_p.N184N			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	292					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGGTAGTGAACGTAAGTGACC	0.418													C|||	3	0.000599042	0.0	0.0	5008	,	,		20532	0.003		0.0	False		,,,				2504	0.0					uc001klh.3		NA																	0				ovary(3)	3						c.(874-876)AAC>AAT		ectonucleoside triphosphate diphosphohydrolase 1							130.0	126.0	127.0					10																	97607265		2203	4300	6503	SO:0001819	synonymous_variant	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97607265C>T	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.876C>T	10.37:g.97607265C>T						ENTPD1_uc001kli.3_Silent_p.N299N|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Silent_p.N304N|ENTPD1_uc010qok.1_Silent_p.N184N|ENTPD1_uc010qol.1_Silent_p.N184N|ENTPD1_uc010qom.1_Intron|ENTPD1_uc010qon.1_Silent_p.N154N|ENTPD1_uc009xva.2_Silent_p.N154N|ENTPD1_uc009xuz.2_Intron	p.N292N	NM_001776	NP_001767	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	7	1200	+		Colorectal(252;0.0821)	292			Extracellular (Potential).		A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	c.876C>T	CCDS7444.1																																																																																				0.418	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		26	46	0	0	0	0	26	46				
ELP4	26610	broad.mit.edu	37	11	31616337	31616337	+	Silent	SNP	T	T	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:31616337T>A	ENST00000350638.5	+	4	437	c.402T>A	c.(400-402)ctT>ctA	p.L134L	ELP4_ENST00000379163.5_Silent_p.L134L|ELP4_ENST00000395934.2_Silent_p.L134L	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	134					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CACCATTACTTGATGATAAAT	0.289																																						uc001mtb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3						c.(400-402)CTT>CTA		elongation protein 4 homolog							69.0	66.0	67.0					11																	31616337		1805	4066	5871	SO:0001819	synonymous_variant	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31616337T>A	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.402T>A	11.37:g.31616337T>A						ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.L134L|ELP4_uc010rdz.1_Silent_p.L134L	p.L134L	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN			4	437	+	Lung SC(675;0.225)		134					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Silent	SNP	ENST00000350638.5	37	c.402T>A	CCDS7875.2																																																																																				0.289	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		11	26	0	0	0	0	11	26				
QSER1	79832	broad.mit.edu	37	11	32955375	32955375	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:32955375T>A	ENST00000399302.2	+	4	2519	c.2184T>A	c.(2182-2184)gaT>gaA	p.D728E	QSER1_ENST00000527788.1_Missense_Mutation_p.D489E	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	728	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCCTTTTAGATTCTGCCTGTG	0.408																																						uc001mty.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2182-2184)GAT>GAA		glutamine and serine rich 1							88.0	83.0	85.0					11																	32955375		1897	4118	6015	SO:0001583	missense	79832							g.chr11:32955375T>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2184T>A	11.37:g.32955375T>A	ENSP00000382241:p.Asp728Glu					QSER1_uc001mtz.1_Missense_Mutation_p.D489E|QSER1_uc001mua.2_Missense_Mutation_p.D233E	p.D728E	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	2451	+	Breast(20;0.158)		728			Gln-rich.		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.2184T>A	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	T	9.876	1.200143	0.22121	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.19250	2.43;2.16	5.53	-3.94	0.04130	.	0.155058	0.44097	D	0.000481	T	0.05135	0.0137	N	0.08118	0	0.34240	D	0.677559	B;B;B	0.16166	0.016;0.005;0.003	B;B;B	0.19148	0.024;0.007;0.003	T	0.37979	-0.9682	10	0.02654	T	1	.	1.1072	0.01697	0.1669:0.2524:0.29:0.2907	.	489;489;728	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	E	728;489;489	ENSP00000382241:D728E;ENSP00000432766:D489E	ENSP00000078652:D489E	D	+	3	2	QSER1	32911951	0.648000	0.27313	0.996000	0.52242	0.970000	0.65996	-0.241000	0.08940	-0.215000	0.10063	0.482000	0.46254	GAT		0.408	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		28	49	0	0	0	0	28	49				
ABTB2	25841	broad.mit.edu	37	11	34176283	34176283	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:34176283C>T	ENST00000435224.2	-	15	3155	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	ABTB2_ENST00000298992.2_Missense_Mutation_p.E725K	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	911	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCCATGGATTCTGTTCCTCCG	0.592																																						uc001mvl.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2173-2175)GAA>AAA		ankyrin repeat and BTB (POZ) domain containing							181.0	158.0	166.0					11																	34176283		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34176283C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2731G>A	11.37:g.34176283C>T	ENSP00000410157:p.Glu911Lys						p.E725K	NM_145804	NP_665803	Q8N961	ABTB2_HUMAN			15	2403	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	725					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2173G>A	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656853	0.88154	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.67865	-0.29;-0.29	4.79	4.79	0.61399	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	L	0.41906	1.305	0.80722	D	1	D	0.53619	0.961	P	0.50970	0.655	T	0.70142	-0.4953	10	0.45353	T	0.12	-12.6145	18.1968	0.89825	0.0:1.0:0.0:0.0	.	725	Q8N961	ABTB2_HUMAN	K	911;725	ENSP00000410157:E911K;ENSP00000298992:E725K	ENSP00000298992:E725K	E	-	1	0	ABTB2	34132859	1.000000	0.71417	0.343000	0.25615	0.549000	0.35272	7.776000	0.85560	2.365000	0.80145	0.462000	0.41574	GAA		0.592	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		24	45	0	0	0	0	24	45				
OR5L1	219437	broad.mit.edu	37	11	55578997	55578997	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:55578997G>A	ENST00000333973.2	+	1	144	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGACTATCAGATGTCCCTGA	0.443																																						uc001nhw.1		NA																	0				skin(3)|ovary(2)	5						c.(55-57)GAT>AAT		olfactory receptor, family 5, subfamily L,							219.0	204.0	209.0					11																	55578997		2200	4293	6493	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55578997G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.55G>A	11.37:g.55578997G>A	ENSP00000335529:p.Asp19Asn						p.D19N	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	55	+		all_epithelial(135;0.208)	19			Extracellular (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.55G>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	15.04	2.716290	0.48622	.	.	ENSG00000186117	ENST00000333973	T	0.00433	7.43	4.32	1.36	0.22044	.	0.393988	0.21510	N	0.073397	T	0.00356	0.0011	L	0.27053	0.805	0.09310	N	1	P	0.45715	0.865	P	0.49683	0.619	T	0.56402	-0.7985	10	0.33141	T	0.24	-15.7368	7.9196	0.29837	0.283:0.0:0.717:0.0	.	19	Q8NGL2	OR5L1_HUMAN	N	19	ENSP00000335529:D19N	ENSP00000335529:D19N	D	+	1	0	OR5L1	55335573	0.003000	0.15002	0.002000	0.10522	0.036000	0.12997	1.021000	0.30040	0.297000	0.22615	0.435000	0.28638	GAT		0.443	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		14	113	0	0	0	0	14	113				
NOX4	50507	broad.mit.edu	37	11	89088181	89088181	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:89088181G>C	ENST00000263317.4	-	13	1404	c.1166C>G	c.(1165-1167)tCt>tGt	p.S389C	NOX4_ENST00000532825.1_Missense_Mutation_p.S365C|NOX4_ENST00000413594.2_Missense_Mutation_p.S410C|NOX4_ENST00000531342.1_Missense_Mutation_p.S82C|NOX4_ENST00000527956.1_Missense_Mutation_p.S365C|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.S223C|NOX4_ENST00000424319.1_Missense_Mutation_p.S365C|NOX4_ENST00000535633.1_Missense_Mutation_p.S365C|NOX4_ENST00000528341.1_Missense_Mutation_p.S364C|NOX4_ENST00000542487.1_Missense_Mutation_p.S365C|NOX4_ENST00000343727.5_Missense_Mutation_p.S365C|NOX4_ENST00000534731.1_Missense_Mutation_p.S389C|NOX4_ENST00000375979.3_Missense_Mutation_p.S82C			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	389	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GTCTTGACTAGATGGAGGCAG	0.363																																						uc001pct.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1165-1167)TCT>TGT		NADPH oxidase 4 isoform a							52.0	52.0	52.0					11																	89088181		2201	4297	6498	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89088181G>C	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1166C>G	11.37:g.89088181G>C	ENSP00000263317:p.Ser389Cys					NOX4_uc009yvr.2_Missense_Mutation_p.S364C|NOX4_uc001pcu.2_Missense_Mutation_p.S315C|NOX4_uc001pcw.2_Missense_Mutation_p.S82C|NOX4_uc001pcx.2_Missense_Mutation_p.S82C|NOX4_uc001pcv.2_Missense_Mutation_p.S389C|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.S223C|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.S365C|NOX4_uc009yvq.2_Missense_Mutation_p.S365C	p.S389C	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			13	1405	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	389			FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.1166C>G	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442676	0.43326	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	T;T;T;D;T;D;T;T;T;T;T;D;D	0.95554	2.49;2.49;2.49;-3.65;2.49;-3.74;2.49;2.49;2.49;2.49;2.49;-3.15;-3.03	5.31	5.31	0.75309	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.545426	0.19528	N	0.112110	D	0.95714	0.8606	L	0.45352	1.415	0.38495	D	0.948089	P;B;D;D;D;B;P	0.63046	0.882;0.001;0.986;0.99;0.992;0.005;0.698	P;B;P;P;P;B;P	0.59948	0.547;0.006;0.866;0.634;0.794;0.023;0.762	D	0.95346	0.8442	9	.	.	.	-2.2771	14.4891	0.67639	0.0:0.0:1.0:0.0	.	365;223;364;82;82;389;389	E9PMY6;E9PR43;E9PPP2;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;NOX4_HUMAN	C	365;365;365;389;389;365;365;365;223;364;410;82;82	ENSP00000412446:S365C;ENSP00000440172:S365C;ENSP00000344747:S365C;ENSP00000436892:S389C;ENSP00000263317:S389C;ENSP00000434924:S365C;ENSP00000433797:S365C;ENSP00000439373:S365C;ENSP00000436093:S223C;ENSP00000436970:S364C;ENSP00000405705:S410C;ENSP00000435039:S82C;ENSP00000365146:S82C	.	S	-	2	0	NOX4	88727829	0.996000	0.38824	0.994000	0.49952	0.981000	0.71138	3.632000	0.54287	2.479000	0.83701	0.563000	0.77884	TCT		0.363	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		6	22	0	0	0	0	6	22				
IQSEC3	440073	broad.mit.edu	37	12	247484	247484	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr12:247484G>A	ENST00000538872.1	+	4	1073	c.955G>A	c.(955-957)Gct>Act	p.A319T	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A319T|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A16T			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	319	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCGGCGCGCCGCTTGCACCAT	0.592																																						uc001qhw.1		NA																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(46-48)GCT>ACT		IQ motif and Sec7 domain 3							58.0	50.0	53.0					12																	247484		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247484G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.955G>A	12.37:g.247484G>A	ENSP00000437554:p.Ala319Thr					IQSEC3_uc001qhu.1_Missense_Mutation_p.A16T|IQSEC3_uc001qht.1_Missense_Mutation_p.A101T|uc001qhv.1_RNA	p.A16T	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	52	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		319			IQ.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.46G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418718	0.96092	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.78126	-1.15;-1.15;-1.15	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.90320	0.4344	10	0.87932	D	0	.	18.9415	0.92607	0.0:0.0:1.0:0.0	.	319;16	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	T	319;319;16	ENSP00000437554:A319T;ENSP00000315662:A319T;ENSP00000372292:A16T	ENSP00000315662:A319T	A	+	1	0	IQSEC3	117745	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.850000	0.99511	2.475000	0.83589	0.462000	0.41574	GCT		0.592	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		8	128	0	0	0	0	8	128				
PGAM5	192111	broad.mit.edu	37	12	133294060	133294060	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr12:133294060G>A	ENST00000498926.2	+	3	464	c.406G>A	c.(406-408)Gca>Aca	p.A136T	PGAM5_ENST00000454808.2_5'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.A136T|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000543955.1_5'UTR	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	136					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GCTCCGCCTGGCAAGCTTGGG	0.592																																						uc009zyv.2		NA																	0					0						c.(406-408)GCA>ACA		phosphoglycerate mutase family member 5							71.0	76.0	75.0					12																	133294060		2203	4299	6502	SO:0001583	missense	192111					integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity	g.chr12:133294060G>A	BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.406G>A	12.37:g.133294060G>A	ENSP00000438465:p.Ala136Thr					PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.A136T	p.A136T	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)	3	433	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		136					A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	ENST00000498926.2	37	c.406G>A	CCDS53845.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035790	0.54896	.	.	ENSG00000247077	ENST00000317555;ENST00000498926	T;T	0.72725	-0.68;-0.68	5.6	5.6	0.85130	Histidine phosphatase superfamily, clade-1 (2);	0.053079	0.85682	D	0.000000	T	0.71525	0.3350	M	0.75085	2.285	0.80722	D	1	P;P	0.49090	0.614;0.919	B;B	0.42087	0.186;0.375	T	0.75187	-0.3406	10	0.48119	T	0.1	-13.5942	14.4709	0.67517	0.0:0.0:0.8531:0.1469	.	136;136	Q96HS1;Q96HS1-2	PGAM5_HUMAN;.	T	136	ENSP00000321503:A136T;ENSP00000438465:A136T	ENSP00000321503:A136T	A	+	1	0	PGAM5	131804133	1.000000	0.71417	0.969000	0.41365	0.241000	0.25554	7.217000	0.77982	2.636000	0.89361	0.591000	0.81541	GCA		0.592	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	NM_138575		3	31	0	0	0	0	3	31				
NALCN	259232	broad.mit.edu	37	13	101997763	101997763	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr13:101997763G>T	ENST00000251127.6	-	7	734	c.653C>A	c.(652-654)aCc>aAc	p.T218N	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.T218N	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	218					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTATTCCAGGTTACATTCCT	0.373																																						uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(652-654)ACC>AAC		voltage gated channel like 1							108.0	94.0	99.0					13																	101997763		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101997763G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.653C>A	13.37:g.101997763G>T	ENSP00000251127:p.Thr218Asn					NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.T218N|NALCN_uc001vpa.2_Missense_Mutation_p.T218N	p.T218N	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			7	842	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		218			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.653C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865193	0.91511	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98717	-4.77;-5.09	5.66	5.66	0.87406	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	M	0.84683	2.71	0.80722	D	1	D;P	0.59767	0.986;0.933	D;P	0.66084	0.941;0.737	D	0.99597	1.0977	10	0.66056	D	0.02	.	19.7461	0.96252	0.0:0.0:1.0:0.0	.	218;218	F2Z323;Q8IZF0	.;NALCN_HUMAN	N	218	ENSP00000251127:T218N;ENSP00000365367:T218N	ENSP00000251127:T218N	T	-	2	0	NALCN	100795764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.645000	0.89757	0.650000	0.86243	ACC		0.373	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		20	34	1	0	5.04e-11	5.75e-11	20	34				
FBLN5	10516	broad.mit.edu	37	14	92336584	92336584	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr14:92336584G>A	ENST00000342058.4	-	11	1924	c.1331C>T	c.(1330-1332)tCg>tTg	p.S444L	TC2N_ENST00000435962.2_5'Flank|FBLN5_ENST00000556154.1_Missense_Mutation_p.S449L|FBLN5_ENST00000267620.10_Missense_Mutation_p.S485L|FBLN5_ENST00000556961.1_5'UTR|TC2N_ENST00000555302.1_5'Flank	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	444					cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGGGTACTGCGACACATATAT	0.542																																						uc001xzx.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(1330-1332)TCG>TTG		fibulin 5 precursor							79.0	79.0	79.0					14																	92336584		2203	4300	6503	SO:0001583	missense	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92336584G>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.1331C>T	14.37:g.92336584G>A	ENSP00000345008:p.Ser444Leu					TC2N_uc001xzv.3_5'Flank|FBLN5_uc010aud.2_Missense_Mutation_p.S449L|FBLN5_uc010aue.2_Missense_Mutation_p.S485L|FBLN5_uc001xzw.2_RNA	p.S444L	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN			11	1804	-		all_cancers(154;0.0722)	444					O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	c.1331C>T	CCDS9898.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.740837|5.740837	0.96873|0.96873	.|.	.|.	ENSG00000140092|ENSG00000140092	ENST00000554121|ENST00000267620;ENST00000342058;ENST00000556154	.|D;D;D	.|0.88509	.|-2.38;-2.39;-2.38	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93743|0.93743	0.8000|0.8000	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.998;0.997	.|D;D;D	.|0.83275	.|0.996;0.979;0.953	D|D	0.93606|0.93606	0.6934|0.6934	5|10	.|0.72032	.|D	.|0.01	.|.	20.0965|20.0965	0.97849|0.97849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|485;449;444	.|G3XA98;G3V4U0;Q9UBX5	.|.;.;FBLN5_HUMAN	C|L	153|485;444;449	.|ENSP00000267620:S485L;ENSP00000345008:S444L;ENSP00000451982:S449L	.|ENSP00000267620:S541L	R|S	-|-	1|2	0|0	FBLN5|FBLN5	91406337|91406337	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	6.635000|6.635000	0.74295|0.74295	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.542	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			26	51	0	0	0	0	26	51				
HERC2	8924	broad.mit.edu	37	15	28375741	28375741	+	Splice_Site	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr15:28375741C>T	ENST00000261609.7	-	82	12679		c.e82-1			NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAGAATCAATCTAGAGGGGGA	0.413																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.e82-1		hect domain and RLD 2							121.0	130.0	127.0					15																	28375741		2203	4300	6503	SO:0001630	splice_region_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28375741C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12571-1G>A	15.37:g.28375741C>T							p.I4191_splice	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	82	12677	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)							Splice_Site	SNP	ENST00000261609.7	37	c.12571_splice	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.930000	0.52759	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3543	0.90352	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC2	26049336	1.000000	0.71417	0.996000	0.52242	0.254000	0.26022	7.788000	0.85771	2.310000	0.77875	0.561000	0.74099	.		0.413	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Intron	43	72	0	0	0	0	43	72				
PLA2G4B	100137049	broad.mit.edu	37	15	42133017	42133017	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr15:42133017G>T	ENST00000452633.1	+	5	617	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.D320Y|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.D89Y|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.D320Y|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.D320Y			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	89	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GGTGACCGGAGATGACCCTGT	0.577																																						uc010bco.2		NA																	0				large_intestine(1)	1						c.(265-267)GAT>TAT		phospholipase A2, group IVB							115.0	103.0	107.0					15																	42133017		2203	4300	6503	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42133017G>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.265G>T	15.37:g.42133017G>T	ENSP00000396045:p.Asp89Tyr					JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.D320Y|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.D320Y|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	p.D89Y	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			4	366	+			89			C2.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.265G>T	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	15.00	2.702779	0.48307	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.04	5.04	0.67666	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.067787	0.56097	D	0.000029	T	0.50939	0.1645	H	0.97611	4.04	0.44388	D	0.997292	D;D;D	0.89917	1.0;0.99;1.0	D;D;D	0.97110	1.0;0.912;0.999	T	0.64980	-0.6279	10	0.87932	D	0	-23.3844	11.7378	0.51775	0.0847:0.0:0.9153:0.0	.	89;320;320	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	Y	320;320;89;89	ENSP00000371886:D320Y;ENSP00000342785:D320Y;ENSP00000416610:D89Y;ENSP00000396045:D89Y	ENSP00000342785:D320Y	D	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39920309	1.000000	0.71417	0.943000	0.38184	0.040000	0.13550	4.881000	0.63114	2.793000	0.96121	0.655000	0.94253	GAT		0.577	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		29	41	1	0	3.73e-12	4.29e-12	29	41				
MYZAP	100820829	broad.mit.edu	37	15	57913836	57913836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr15:57913836C>T	ENST00000267853.5	+	4	443	c.349C>T	c.(349-351)Cga>Tga	p.R117*	GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000396180.1_Intron|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R117*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R117*|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000574161.1_Nonsense_Mutation_p.R117*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R117*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R117*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R117*			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	117					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											GGTGAGAAAGCGAATGTATGG	0.403																																						uc002aei.2		NA																	0				ovary(1)	1						c.(349-351)CGA>TGA		GRINL1A upstream protein isoform 7							141.0	133.0	136.0					15																	57913836		2192	4292	6484	SO:0001587	stop_gained	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57913836C>T	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.349C>T	15.37:g.57913836C>T	ENSP00000267853:p.Arg117*					GCOM1_uc002aej.2_Nonsense_Mutation_p.R117*|GCOM1_uc002aek.2_Intron|GCOM1_uc002ael.2_Intron|GCOM1_uc002aem.2_Nonsense_Mutation_p.R117*|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Nonsense_Mutation_p.R117*|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	p.R117*	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN			4	468	+			117			Potential.		D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Nonsense_Mutation	SNP	ENST00000267853.5	37	c.349C>T	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	C	36	5.751972	0.96890	.	.	ENSG00000137878	ENST00000380569;ENST00000267853;ENST00000380565;ENST00000380568	.	.	.	5.66	2.69	0.31865	.	0.180261	0.46145	D	0.000316	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-2.7833	10.1756	0.42937	0.4752:0.4045:0.1203:0.0	.	.	.	.	X	117	.	ENSP00000267853:R117X	R	+	1	2	GCOM1	55701128	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.268000	0.33062	0.396000	0.25283	-0.189000	0.12847	CGA		0.403	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		23	53	0	0	0	0	23	53				
SLX4	84464	broad.mit.edu	37	16	3645643	3645643	+	Missense_Mutation	SNP	G	G	A	rs372150541		TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr16:3645643G>A	ENST00000294008.3	-	9	2616	c.1976C>T	c.(1975-1977)tCg>tTg	p.S659L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	659	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTTGTCCTGCGATGGCACCAC	0.632								Direct reversal of damage																														uc002cvp.2		NA																	0					0						c.(1975-1977)TCG>TTG	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12		G	LEU/SER	0,4394		0,0,2197	58.0	61.0	60.0		1976	-0.8	0.0	16		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLX4	NM_032444.2	145	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	659/1835	3645643	1,12993	2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3645643G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1976C>T	16.37:g.3645643G>A	ENSP00000294008:p.Ser659Leu						p.S659L	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			9	2603	-			659			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.1976C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099788	0.37048	0.0	1.16E-4	ENSG00000188827	ENST00000294008	T	0.01159	5.25	4.96	-0.838	0.10762	.	1.137980	0.06485	N	0.733615	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48198	-0.9056	10	0.32370	T	0.25	.	2.1747	0.03859	0.17:0.2927:0.3958:0.1415	.	659	Q8IY92	SLX4_HUMAN	L	659	ENSP00000294008:S659L	ENSP00000294008:S659L	S	-	2	0	SLX4	3585644	0.010000	0.17322	0.000000	0.03702	0.033000	0.12548	0.856000	0.27818	-0.275000	0.09219	0.561000	0.74099	TCG		0.632	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		9	21	0	0	0	0	9	21				
CDH11	1009	broad.mit.edu	37	16	65032649	65032649	+	Silent	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr16:65032649G>A	ENST00000268603.4	-	4	954	c.339C>T	c.(337-339)acC>acT	p.T113T	CDH11_ENST00000566827.1_5'UTR|CDH11_ENST00000394156.3_Silent_p.T113T	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCAACGTCTTGGTGGCATGAA	0.493			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(337-339)ACC>ACT		cadherin 11, type 2 preproprotein							155.0	117.0	130.0					16																	65032649		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65032649G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.339C>T	16.37:g.65032649G>A		TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.T113T|CDH11_uc010vin.1_5'UTR|CDH11_uc010vio.1_Silent_p.T113T	p.T113T	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	4	773	-		Ovarian(137;0.0973)	113			Extracellular (Potential).|Cadherin 1.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.339C>T	CCDS10803.1																																																																																				0.493	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		10	6	0	0	0	0	10	6				
MYH2	4620	broad.mit.edu	37	17	10448712	10448712	+	Silent	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr17:10448712C>T	ENST00000245503.5	-	5	840	c.456G>A	c.(454-456)ccG>ccA	p.P152P	MYH2_ENST00000397183.2_Silent_p.P152P|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Silent_p.P152P	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	152	Myosin motor.				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						AGATGTGGGGCGGGGCCTCCT	0.542																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(454-456)CCG>CCA		myosin heavy chain IIa							180.0	183.0	182.0					17																	10448712		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10448712C>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.456G>A	17.37:g.10448712C>T						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.P152P|MYH2_uc010coj.2_Silent_p.P152P	p.P152P	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			5	584	-			152			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.456G>A	CCDS11156.1																																																																																				0.542	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		10	96	0	0	0	0	10	96				
CA4	762	broad.mit.edu	37	17	58233927	58233927	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr17:58233927T>C	ENST00000300900.4	+	3	218	c.119T>C	c.(118-120)gTc>gCc	p.V40A		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	40					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCAGTGCCAGTCAAGTGGGGT	0.587																																						uc002iym.3		NA																	0					0						c.(118-120)GTC>GCC		carbonic anhydrase IV precursor	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						86.0	78.0	81.0					17																	58233927		2203	4300	6503	SO:0001583	missense	762				bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	g.chr17:58233927T>C	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.119T>C	17.37:g.58233927T>C	ENSP00000300900:p.Val40Ala					CA4_uc010wou.1_RNA	p.V40A	NM_000717	NP_000708	P22748	CAH4_HUMAN	Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		3	213	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		40					B4DQA4|Q6FHI7	Missense_Mutation	SNP	ENST00000300900.4	37	c.119T>C	CCDS11624.1	.	.	.	.	.	.	.	.	.	.	T	2.122	-0.401289	0.04865	.	.	ENSG00000167434	ENST00000300900	T	0.66995	-0.24	5.27	-9.67	0.00531	Carbonic anhydrase, alpha-class, catalytic domain (4);	2.718800	0.00913	N	0.002483	T	0.29288	0.0729	N	0.01686	-0.76	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30387	-0.9980	10	0.09338	T	0.73	.	4.0886	0.09958	0.1872:0.4033:0.3099:0.0996	.	40	P22748	CAH4_HUMAN	A	40	ENSP00000300900:V40A	ENSP00000300900:V40A	V	+	2	0	CA4	55588709	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.114000	0.03293	-1.938000	0.01046	-3.213000	0.00053	GTC		0.587	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		17	35	0	0	0	0	17	35				
SLC14A1	6563	broad.mit.edu	37	18	43319570	43319570	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr18:43319570A>G	ENST00000321925.4	+	8	1121	c.889A>G	c.(889-891)Atg>Gtg	p.M297V	SLC14A1_ENST00000402943.2_Missense_Mutation_p.M192V|SLC14A1_ENST00000415427.3_Missense_Mutation_p.M353V|SLC14A1_ENST00000535474.1_Missense_Mutation_p.M165V|SLC14A1_ENST00000586142.1_Missense_Mutation_p.M297V|SLC14A1_ENST00000591541.1_Start_Codon_SNP_p.M1V|SLC14A1_ENST00000436407.3_Missense_Mutation_p.M353V|RP11-116O18.3_ENST00000589510.1_RNA|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000502059.2_Missense_Mutation_p.M189V|SLC14A1_ENST00000589700.1_Silent_p.Q247Q	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	297					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTGCATTGCAATGGGAGGAAT	0.562																																						uc010xcn.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(889-891)ATG>GTG		solute carrier family 14 (urea transporter),							121.0	104.0	110.0					18																	43319570		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43319570A>G	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.889A>G	18.37:g.43319570A>G	ENSP00000318546:p.Met297Val					SLC14A1_uc010dnk.2_Missense_Mutation_p.M353V|SLC14A1_uc002lbf.3_Missense_Mutation_p.M297V|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.M192V|SLC14A1_uc002lbh.3_Missense_Mutation_p.M189V|SLC14A1_uc002lbi.3_Missense_Mutation_p.M165V|SLC14A1_uc002lbj.3_Missense_Mutation_p.M353V|SLC14A1_uc002lbk.3_Missense_Mutation_p.M297V	p.M297V	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			9	1208	+			297			Helical; (Potential).		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.889A>G	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788765	0.31685	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.62	4.45	0.53987	.	0.209749	0.38217	N	0.001765	T	0.15219	0.0367	N	0.00996	-1.065	0.23150	N	0.998213	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.003	T	0.18650	-1.0330	10	0.20519	T	0.43	-4.2199	10.9062	0.47081	0.9264:0.0:0.0736:0.0	.	353;189;297	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	V	297;353;189;192;165;353	ENSP00000318546:M297V;ENSP00000412309:M353V;ENSP00000442180:M189V;ENSP00000385320:M192V;ENSP00000441998:M165V;ENSP00000390637:M353V	ENSP00000318546:M297V	M	+	1	0	SLC14A1	41573568	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.334000	0.65923	0.949000	0.37715	0.482000	0.46254	ATG		0.562	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		26	44	0	0	0	0	26	44				
ZNRF4	148066	broad.mit.edu	37	19	5456253	5456253	+	Missense_Mutation	SNP	G	G	A	rs113345491		TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr19:5456253G>A	ENST00000222033.4	+	1	828	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	251						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGTCACCCCGTGCTGACCGT	0.682													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16791	0.0		0.0	False		,,,				2504	0.0					uc002mca.3		NA																	0				large_intestine(2)	2						c.(751-753)GTG>ATG		zinc and ring finger 4 precursor		G	MET/VAL	1,4337		0,1,2168	43.0	47.0	46.0		751	1.7	0.0	19	dbSNP_132	46	9,8521		0,9,4256	yes	missense	ZNRF4	NM_181710.3	21	0,10,6424	AA,AG,GG		0.1055,0.0231,0.0777	probably-damaging	251/430	5456253	10,12858	2169	4265	6434	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5456253G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.751G>A	19.37:g.5456253G>A	ENSP00000222033:p.Val251Met						p.V251M	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	828	+			251			Helical; (Potential).		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.751G>A	CCDS42475.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.96	2.692761	0.48202	2.31E-4	0.001055	ENSG00000105428	ENST00000222033	T	0.05580	3.42	3.91	1.69	0.24217	.	0.231030	0.35378	U	0.003255	T	0.07188	0.0182	L	0.34521	1.04	0.09310	N	1	D	0.64830	0.994	P	0.49085	0.6	T	0.21177	-1.0253	10	0.59425	D	0.04	.	7.3647	0.26766	0.2153:0.0:0.7847:0.0	.	251	Q8WWF5	ZNRF4_HUMAN	M	251	ENSP00000222033:V251M	ENSP00000222033:V251M	V	+	1	0	ZNRF4	5407253	0.078000	0.21339	0.005000	0.12908	0.124000	0.20399	1.687000	0.37680	0.314000	0.23086	0.491000	0.48974	GTG		0.682	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		25	19	0	0	0	0	25	19				
ZNF835	90485	broad.mit.edu	37	19	57175924	57175924	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr19:57175924C>T	ENST00000537055.2	-	2	874	c.643G>A	c.(643-645)Gtg>Atg	p.V215M		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCCGTGTGCACGCGCCGGTGC	0.716																																						uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(709-711)GTG>ATG		zinc finger protein 835							17.0	18.0	18.0					19																	57175924		2197	4275	6472	SO:0001583	missense	90485							g.chr19:57175924C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.643G>A	19.37:g.57175924C>T	ENSP00000444747:p.Val215Met					ZNF835_uc010ygn.1_Missense_Mutation_p.V215M	p.V237M	NM_001005850	NP_001005850					2	709	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.709G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161203	0.38119	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.08102	3.13	1.99	-1.69	0.08186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13243	0.0321	L	0.41027	1.25	0.09310	N	1	D	0.76494	0.999	D	0.66847	0.947	T	0.17531	-1.0366	9	0.54805	T	0.06	.	2.5382	0.04719	0.2272:0.315:0.0:0.4578	.	237	Q9Y2P0	ZN835_HUMAN	M	237;215	ENSP00000444747:V215M	ENSP00000341756:V237M	V	-	1	0	ZNF835	61867736	0.000000	0.05858	0.004000	0.12327	0.469000	0.32828	-1.353000	0.02617	-0.336000	0.08438	0.462000	0.41574	GTG		0.716	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		5	9	0	0	0	0	5	9				
ALK	238	broad.mit.edu	37	2	29455179	29455179	+	Missense_Mutation	SNP	C	C	T	rs148001139		TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:29455179C>T	ENST00000389048.3	-	15	3529	c.2623G>A	c.(2623-2625)Gga>Aga	p.G875R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	875	Gly-rich.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCTGCGGCTCCGGAATTGCCG	0.617			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(2623-2625)GGA>AGA		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)	C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	101.0	95.0	97.0		2623	5.4	1.0	2	dbSNP_134	97	0,8600		0,0,4300	no	missense	ALK	NM_004304.4	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	875/1621	29455179	1,13005	2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29455179C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2623G>A	2.37:g.29455179C>T	ENSP00000373700:p.Gly875Arg						p.G875R	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			15	3530	-	Acute lymphoblastic leukemia(172;0.155)		875			Gly-rich.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2623G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515411	0.85389	2.27E-4	0.0	ENSG00000171094	ENST00000389048	T	0.61158	0.13	5.41	5.41	0.78517	.	0.000000	0.46758	D	0.000265	T	0.74419	0.3714	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73193	-0.4060	9	.	.	.	.	19.2048	0.93726	0.0:1.0:0.0:0.0	.	875	Q9UM73	ALK_HUMAN	R	875	ENSP00000373700:G875R	.	G	-	1	0	ALK	29308683	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.432000	0.66514	2.534000	0.85438	0.555000	0.69702	GGA		0.617	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		6	91	0	0	0	0	6	91				
SCN1A	6323	broad.mit.edu	37	2	166848284	166848284	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:166848284G>A	ENST00000303395.4	-	26	5500	c.5501C>T	c.(5500-5502)gCg>gTg	p.A1834V	SCN1A_ENST00000375405.3_Missense_Mutation_p.A1823V|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1806V|SCN1A_ENST00000423058.2_Missense_Mutation_p.A1834V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1834					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGGTTCAAGCGCAGCTGCAAA	0.458																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(5467-5469)GCG>GTG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						102.0	105.0	104.0					2																	166848284		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848284G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5501C>T	2.37:g.166848284G>A	ENSP00000303540:p.Ala1834Val						p.A1823V	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5486	-			1834					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5468C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885346	0.72410	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96265	-3.96;-3.96;-3.92;-3.9	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000006	D	0.94318	0.8174	L	0.54908	1.71	0.80722	D	1	P	0.47034	0.889	B	0.37780	0.258	D	0.93091	0.6500	10	0.25106	T	0.35	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	1823	P35498-2	.	V	1834;1834;1823;1806	ENSP00000407030:A1834V;ENSP00000303540:A1834V;ENSP00000364554:A1823V;ENSP00000386312:A1806V	ENSP00000303540:A1834V	A	-	2	0	SCN1A	166556530	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.885000	0.87282	2.731000	0.93534	0.650000	0.86243	GCG		0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		43	64	0	0	0	0	43	64				
CDK15	65061	broad.mit.edu	37	2	202700438	202700438	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:202700438C>T	ENST00000374598.4	+	8	803	c.803C>T	c.(802-804)cCt>cTt	p.P268L	CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000410091.3_Missense_Mutation_p.P217L|CDK15_ENST00000450471.2_Missense_Mutation_p.P268L|CDK15_ENST00000434439.1_Missense_Mutation_p.P268L|CDK15_ENST00000260967.2_Missense_Mutation_p.P217L			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TACCGGCCCCCTGATGCTTTG	0.522																																						uc002uyt.2		NA																	0				breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.(802-804)CCT>CTT		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						72.0	69.0	70.0					2																	202700438		2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202700438C>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.803C>T	2.37:g.202700438C>T	ENSP00000363726:p.Pro268Leu					CDK15_uc010ftm.2_Missense_Mutation_p.P133L|CDK15_uc002uys.2_Missense_Mutation_p.P217L|CDK15_uc010ftn.1_Missense_Mutation_p.P217L|CDK15_uc010fto.1_Missense_Mutation_p.P247L	p.P268L	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			8	852	+			268			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.803C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.346085	0.95807	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.62	5.62	0.85841	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	0.85682	D	0.000000	D	0.93651	0.7972	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94393	0.7616	10	0.87932	D	0	-15.2194	20.02	0.97489	0.0:1.0:0.0:0.0	.	247;268;268	Q96Q40-2;Q96Q40;F8W6H8	.;CDK15_HUMAN;.	L	217;217;268;268;268	ENSP00000386901:P217L;ENSP00000260967:P217L;ENSP00000406472:P268L;ENSP00000412775:P268L;ENSP00000363726:P268L	ENSP00000260967:P217L	P	+	2	0	CDK15	202408683	1.000000	0.71417	0.982000	0.44146	0.966000	0.64601	7.655000	0.83696	2.809000	0.96659	0.557000	0.71058	CCT		0.522	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			15	29	0	0	0	0	15	29				
MAP2	4133	broad.mit.edu	37	2	210594941	210594941	+	Silent	SNP	T	T	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:210594941T>A	ENST00000360351.4	+	15	5810	c.5304T>A	c.(5302-5304)gcT>gcA	p.A1768A	MAP2_ENST00000447185.1_Silent_p.A1764A|MAP2_ENST00000392194.1_Silent_p.A412A|MAP2_ENST00000199940.6_Silent_p.A500A|MAP2_ENST00000361559.4_Silent_p.A412A	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1768					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GAGAGCATGCTAAAGCCCGTG	0.512																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(5302-5304)GCT>GCA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						79.0	73.0	75.0					2																	210594941		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210594941T>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5304T>A	2.37:g.210594941T>A						MAP2_uc002vdd.1_Silent_p.A500A|MAP2_uc002vdf.1_Silent_p.A443A|MAP2_uc002vdg.1_Silent_p.A412A|MAP2_uc002vdh.1_Silent_p.A469A|MAP2_uc002vdi.1_Silent_p.A1764A	p.A1768A	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	15	5552	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1768					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.5304T>A	CCDS2384.1																																																																																				0.512	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		9	17	0	0	0	0	9	17				
COL4A4	1286	broad.mit.edu	37	2	228009238	228009238	+	Silent	SNP	T	T	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:228009238T>A	ENST00000396625.3	-	3	315	c.108A>T	c.(106-108)gtA>gtT	p.V36V	COL4A4_ENST00000329662.7_Silent_p.V36V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	36					axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTACCCCATATACATATTGTA	0.308																																						uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(106-108)GTA>GTT		alpha 4 type IV collagen precursor							89.0	84.0	85.0					2																	228009238		1817	4071	5888	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:228009238T>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.108A>T	2.37:g.228009238T>A							p.V36V	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	3	762	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	36					A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.108A>T	CCDS42828.1																																																																																				0.308	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		19	45	0	0	0	0	19	45				
RALGAPA2	57186	broad.mit.edu	37	20	20506898	20506898	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr20:20506898C>T	ENST00000202677.7	-	28	3698	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1231					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGACTTACTTCTGCCATTTTC	0.353																																						uc002wrz.2		NA																	0				ovary(1)	1						c.(3691-3693)GAA>AAA		akt substrate AS250							30.0	29.0	29.0					20																	20506898		1813	4083	5896	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20506898C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3691G>A	20.37:g.20506898C>T	ENSP00000202677:p.Glu1231Lys					RALGAPA2_uc010gcx.2_Missense_Mutation_p.E935K|RALGAPA2_uc010zsg.1_Missense_Mutation_p.E679K|RALGAPA2_uc002wsa.1_Missense_Mutation_p.E3K	p.E1231K	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			28	3834	-			1231					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.3691G>A	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050810	0.93740	.	.	ENSG00000188559	ENST00000202677	T	0.29655	1.56	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	L	0.56396	1.775	0.58432	D	0.999996	P;D;P	0.76494	0.898;0.999;0.898	P;D;P	0.85130	0.714;0.997;0.642	T	0.37865	-0.9687	10	0.33940	T	0.23	.	18.2973	0.90151	0.0:1.0:0.0:0.0	.	1069;1231;1231	A8MSM5;Q2PPJ7-2;Q2PPJ7	.;.;RGPA2_HUMAN	K	1231	ENSP00000202677:E1231K	ENSP00000202677:E1231K	E	-	1	0	RALGAPA2	20454898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.790000	0.75115	2.728000	0.93425	0.561000	0.74099	GAA		0.353	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		7	11	0	0	0	0	7	11				
BIK	638	broad.mit.edu	37	22	43524565	43524565	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr22:43524565G>A	ENST00000216115.2	+	4	387	c.324G>A	c.(322-324)atG>atA	p.M108I		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	108					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GAAGTTTCATGGACGGTTTCA	0.512																																						uc003bdk.2		NA																	0					0						c.(322-324)ATG>ATA		BCL2-interacting killer							128.0	125.0	126.0					22																	43524565		2203	4300	6503	SO:0001583	missense	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43524565G>A	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.324G>A	22.37:g.43524565G>A	ENSP00000216115:p.Met108Ile						p.M108I	NM_001197	NP_001188	Q13323	BIK_HUMAN			4	384	+		Ovarian(80;0.0694)	108					Q16582|Q6FH93	Missense_Mutation	SNP	ENST00000216115.2	37	c.324G>A	CCDS14044.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.308307	0.01342	.	.	ENSG00000100290	ENST00000216115	T	0.19532	2.14	3.65	-5.7	0.02421	.	.	.	.	.	T	0.05960	0.0155	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36915	-0.9728	9	0.12430	T	0.62	0.0463	2.322	0.04213	0.2028:0.4244:0.232:0.1408	.	108	Q13323	BIK_HUMAN	I	108	ENSP00000216115:M108I	ENSP00000216115:M108I	M	+	3	0	BIK	41854509	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.543000	0.02194	-1.097000	0.03042	-0.502000	0.04539	ATG		0.512	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		27	67	0	0	0	0	27	67				
SENP2	59343	broad.mit.edu	37	3	185316239	185316239	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr3:185316239C>T	ENST00000296257.5	+	3	437	c.197C>T	c.(196-198)gCt>gTt	p.A66V	SENP2_ENST00000545472.1_Missense_Mutation_p.A56V|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000427465.2_5'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	66					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTCTACAATGCTGCCAGCTTA	0.393																																						uc003fpn.2		NA																	0					0						c.(196-198)GCT>GTT		SUMO1/sentrin/SMT3 specific protease 2							82.0	79.0	80.0					3																	185316239		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185316239C>T	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.197C>T	3.37:g.185316239C>T	ENSP00000296257:p.Ala66Val					SENP2_uc011brv.1_Missense_Mutation_p.A56V|SENP2_uc011brw.1_5'UTR	p.A66V	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		3	368	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		66					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.197C>T	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049110	0.75846	.	.	ENSG00000163904	ENST00000430355;ENST00000545472;ENST00000296257;ENST00000437107	T;T	0.25414	1.8;1.8	4.98	4.1	0.47936	.	0.000000	0.44097	D	0.000495	T	0.14056	0.0340	N	0.14661	0.345	0.80722	D	1	P;P	0.41978	0.767;0.767	B;B	0.40940	0.344;0.344	T	0.02282	-1.1183	10	0.23891	T	0.37	-11.1641	8.5872	0.33666	0.0:0.8986:0.0:0.1014	.	56;66	B4DQ42;Q9HC62	.;SENP2_HUMAN	V	120;56;66;66	ENSP00000439653:A56V;ENSP00000296257:A66V	ENSP00000296257:A66V	A	+	2	0	SENP2	186798933	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.129000	0.42055	2.739000	0.93911	0.650000	0.86243	GCT		0.393	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		11	36	0	0	0	0	11	36				
SLIT2	9353	broad.mit.edu	37	4	20597445	20597445	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr4:20597445C>T	ENST00000504154.1	+	31	3560	c.3308C>T	c.(3307-3309)cCc>cTc	p.P1103L	SLIT2_ENST00000503823.1_Missense_Mutation_p.P1095L|SLIT2_ENST00000503837.1_Missense_Mutation_p.P1099L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1116L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1103	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCATATGCCCCGAAGGTTAC	0.438																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(3307-3309)CCC>CTC		slit homolog 2 precursor							107.0	100.0	102.0					4																	20597445		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20597445C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3308C>T	4.37:g.20597445C>T	ENSP00000422591:p.Pro1103Leu					SLIT2_uc003gps.1_Missense_Mutation_p.P1095L	p.P1103L	NM_004787	NP_004778	O94813	SLIT2_HUMAN			31	3512	+			1103			EGF-like 5; calcium-binding (Potential).		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3308C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828318	0.90955	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94	6.17	6.17	0.99709	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.092368	0.85682	D	0.000000	D	0.96040	0.8710	L	0.55481	1.735	0.80722	D	1	B;B	0.33964	0.016;0.434	B;P	0.46208	0.042;0.507	D	0.93627	0.6953	10	0.32370	T	0.25	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1095;1103	O94813-3;O94813	.;SLIT2_HUMAN	L	1095;1103;1116;1099;1099	ENSP00000427548:P1095L;ENSP00000422591:P1103L;ENSP00000273739:P1116L;ENSP00000422261:P1099L	ENSP00000273739:P1116L	P	+	2	0	SLIT2	20206543	1.000000	0.71417	0.971000	0.41717	0.817000	0.46193	5.770000	0.68873	2.941000	0.99782	0.655000	0.94253	CCC		0.438	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			19	36	0	0	0	0	19	36				
CHD1	1105	broad.mit.edu	37	5	98233988	98233988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr5:98233988G>T	ENST00000284049.3	-	9	1486	c.1337C>A	c.(1336-1338)tCa>tAa	p.S446*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	446	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGTGGTTTTTGATTGGTTCCT	0.328																																						uc003knf.2		NA																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(1336-1338)TCA>TAA		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						83.0	84.0	84.0					5																	98233988		2203	4300	6503	SO:0001587	stop_gained	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98233988G>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1337C>A	5.37:g.98233988G>T	ENSP00000284049:p.Ser446*						p.S446*	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	9	1485	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	446			Chromo 2.		Q17RZ3	Nonsense_Mutation	SNP	ENST00000284049.3	37	c.1337C>A	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	39	7.806729	0.98501	.	.	ENSG00000153922	ENST00000284049	.	.	.	5.61	5.61	0.85477	.	0.000000	0.29932	U	0.010833	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6288	0.95691	0.0:0.0:1.0:0.0	.	.	.	.	X	446	.	ENSP00000284049:S446X	S	-	2	0	CHD1	98261888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.476000	0.81055	2.644000	0.89710	0.591000	0.81541	TCA		0.328	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		9	31	1	0	0.000442599	0.000475057	9	31				
PCDHA11	56138	broad.mit.edu	37	5	140250616	140250616	+	Missense_Mutation	SNP	G	G	A	rs543880939		TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr5:140250616G>A	ENST00000398640.2	+	1	1928	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCGCCGCGCCACCGACTT	0.687													.|||	1	0.000199681	0.0	0.0	5008	,	,		14666	0.0		0.0	False		,,,				2504	0.001					uc003lia.2		NA																	0				breast(1)	1						c.(1927-1929)CGC>CAC		protocadherin alpha 11 isoform 1 precursor							37.0	43.0	41.0					5																	140250616		2203	4298	6501	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250616G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1928G>A	5.37:g.140250616G>A	ENSP00000381636:p.Arg643His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R643H	p.R643H	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2786	+			643			Extracellular (Potential).|Cadherin 6.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1928G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	3.614	-0.078974	0.07141	.	.	ENSG00000249158	ENST00000398640	T	0.52754	0.65	4.57	2.7	0.31948	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.43986	0.1272	L	0.53780	1.695	0.09310	N	1	B;B	0.25351	0.102;0.124	B;B	0.27715	0.049;0.082	T	0.41288	-0.9517	9	0.72032	D	0.01	.	9.8644	0.41134	0.1771:0.0:0.8229:0.0	.	643;643	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	643	ENSP00000381636:R643H	ENSP00000381636:R643H	R	+	2	0	PCDHA11	140230800	0.000000	0.05858	0.062000	0.19696	0.010000	0.07245	0.079000	0.14782	0.334000	0.23590	0.556000	0.70494	CGC		0.687	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		20	41	0	0	0	0	20	41				
FAT2	2196	broad.mit.edu	37	5	150922619	150922619	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr5:150922619T>C	ENST00000261800.5	-	9	8081	c.8069A>G	c.(8068-8070)aAa>aGa	p.K2690R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2690	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGAAAATTTCGGTAAGGA	0.463																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(8068-8070)AAA>AGA		FAT tumor suppressor 2 precursor							63.0	64.0	64.0					5																	150922619		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922619T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8069A>G	5.37:g.150922619T>C	ENSP00000261800:p.Lys2690Arg					GM2A_uc011dcs.1_Intron	p.K2690R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8082	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2690			Cadherin 23.|Extracellular (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8069A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	3.809	-0.040081	0.07497	.	.	ENSG00000086570	ENST00000261800	T	0.60424	0.19	5.55	5.55	0.83447	Cadherin (2);Cadherin-like (1);	0.254855	0.33916	N	0.004422	T	0.40398	0.1115	L	0.33137	0.985	0.27292	N	0.957823	B	0.09022	0.002	B	0.08055	0.003	T	0.26849	-1.0091	10	0.08837	T	0.75	.	8.3427	0.32254	0.0:0.1171:0.0:0.8829	.	2690	Q9NYQ8	FAT2_HUMAN	R	2690	ENSP00000261800:K2690R	ENSP00000261800:K2690R	K	-	2	0	FAT2	150902812	0.975000	0.34042	0.990000	0.47175	0.413000	0.31143	2.429000	0.44758	2.108000	0.64289	0.379000	0.24179	AAA		0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		26	40	0	0	0	0	26	40				
POLB	5423	broad.mit.edu	37	8	42196204	42196204	+	Splice_Site	SNP	G	G	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr8:42196204G>T	ENST00000265421.4	+	1	231		c.e1+1		POLB_ENST00000530566.1_Intron|POLB_ENST00000538005.1_Splice_Site	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta						base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ATGCTCACAGGTTAGCACCGG	0.617								DNA polymerases (catalytic subunits)																														uc003xoz.1		NA																	0				ovary(1)|breast(1)	2						c.e1+1	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase beta	Cytarabine(DB00987)						60.0	68.0	66.0					8																	42196204		2203	4300	6503	SO:0001630	splice_region_variant	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42196204G>T		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.61+1G>T	8.37:g.42196204G>T						POLB_uc003xpa.1_Splice_Site_p.E21_splice|POLB_uc011lcs.1_Splice_Site	p.E21_splice	NM_002690	NP_002681	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		1	174	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)						B2RC78|Q3KP48|Q6FI34	Splice_Site	SNP	ENST00000265421.4	37	c.61_splice	CCDS6129.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771431	0.49680	.	.	ENSG00000070501	ENST00000265421;ENST00000518925	.	.	.	4.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7223	0.57149	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLB	42315361	1.000000	0.71417	0.987000	0.45799	0.571000	0.35966	6.338000	0.72963	2.460000	0.83146	0.460000	0.39030	.		0.617	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690	Intron	31	56	1	0	1.16e-09	1.32e-09	31	56				
GPAA1	8733	broad.mit.edu	37	8	145139221	145139221	+	Silent	SNP	G	G	A	rs189367473		TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr8:145139221G>A	ENST00000355091.4	+	6	922	c.801G>A	c.(799-801)acG>acA	p.T267T	GPAA1_ENST00000361036.6_Silent_p.T207T|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	267					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGTGCACGCTTCAGGGCA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		19669	0.001		0.0	False		,,,				2504	0.0					uc003zax.2		NA																	0					0						c.(799-801)ACG>ACA		glycosylphosphatidylinositol anchor attachment							47.0	50.0	49.0					8																	145139221		2062	4196	6258	SO:0001819	synonymous_variant	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145139221G>A	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.801G>A	8.37:g.145139221G>A						GPAA1_uc003zav.1_Silent_p.T145T|GPAA1_uc003zaw.1_Silent_p.T207T	p.T267T	NM_003801	NP_003792	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	911	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		267			Lumenal (Potential).		Q9NSS0|Q9UQ31	Silent	SNP	ENST00000355091.4	37	c.801G>A	CCDS43776.1																																																																																				0.627	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		17	48	0	0	0	0	17	48				
TONSL	4796	broad.mit.edu	37	8	145655883	145655883	+	Silent	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr8:145655883G>A	ENST00000409379.3	-	25	3876	c.3847C>T	c.(3847-3849)Ctg>Ttg	p.L1283L	VPS28_ENST00000292510.4_5'Flank|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000377348.2_5'Flank	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1283					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TTGGCAGACAGATCCAGTGAG	0.557																																						uc011llg.1		NA																	0					0						c.(3847-3849)CTG>TTG		NF-kappa-B inhibitor-like protein 2							95.0	84.0	87.0					8																	145655883		2203	4300	6503	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145655883G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3847C>T	8.37:g.145655883G>A						VPS28_uc003zcs.1_5'Flank|VPS28_uc003zct.1_5'Flank	p.L1283L	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		25	3862	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1283			LRR 6.		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.3847C>T	CCDS34968.2																																																																																				0.557	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		6	12	0	0	0	0	6	12				
SPATA31E1	286234	broad.mit.edu	37	9	90501079	90501079	+	Silent	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr9:90501079C>T	ENST00000325643.5	+	4	1743	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	559					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CACAGTCTGTCATCCCCACTG	0.547																																						uc004app.3		NA																	0				ovary(3)	3						c.(1675-1677)GTC>GTT		chromosome 9 open reading frame 79							107.0	114.0	111.0					9																	90501079		2203	4300	6503	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90501079C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1677C>T	9.37:g.90501079C>T						C9orf79_uc004apo.1_Silent_p.V371V	p.V559V	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	1712	+			559					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.1677C>T	CCDS6676.1																																																																																				0.547	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		11	139	0	0	0	0	11	139				
WDR5	11091	broad.mit.edu	37	9	137005026	137005026	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr9:137005026G>C	ENST00000358625.3	+	2	198	c.27G>C	c.(25-27)gaG>gaC	p.E9D	WDR5_ENST00000425041.1_Missense_Mutation_p.E9D	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	9					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		AGAAGCCCGAGACCGAGGCCG	0.657																																						uc004cey.2		NA																	0					0						c.(25-27)GAG>GAC		WD repeat domain 5							58.0	54.0	55.0					9																	137005026		2203	4300	6503	SO:0001583	missense	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137005026G>C	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.27G>C	9.37:g.137005026G>C	ENSP00000351446:p.Glu9Asp					WDR5_uc004cez.2_Missense_Mutation_p.E9D	p.E9D	NM_017588	NP_060058	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	2	198	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	9					Q91VA5|Q9NWX7|Q9UGP9	Missense_Mutation	SNP	ENST00000358625.3	37	c.27G>C	CCDS6981.1	.	.	.	.	.	.	.	.	.	.	G	7.594	0.671343	0.14776	.	.	ENSG00000196363	ENST00000358625;ENST00000425041	T;T	0.51071	0.72;0.72	4.4	4.4	0.53042	.	0.061010	0.64402	D	0.000006	T	0.23451	0.0567	N	0.12182	0.205	0.43007	D	0.994536	B	0.02656	0.0	B	0.01281	0.0	T	0.12016	-1.0564	10	0.12430	T	0.62	.	5.9585	0.19287	0.0993:0.0:0.7102:0.1904	.	9	P61964	WDR5_HUMAN	D	9	ENSP00000351446:E9D;ENSP00000401889:E9D	ENSP00000351446:E9D	E	+	3	2	WDR5	135994847	1.000000	0.71417	0.737000	0.30932	0.328000	0.28507	1.914000	0.39966	2.143000	0.66587	0.643000	0.83706	GAG		0.657	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		11	22	0	0	0	0	11	22				
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	TCC	-	rs71584865|rs1639122	byFrequency	TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr12:6711145_6711147delTCC	ENST00000357008.2	-	4	580_582	c.417_419delGGA	c.(415-420)gaggat>gat	p.E139del	CHD4_ENST00000544040.1_In_Frame_Del_p.E132del|CHD4_ENST00000544484.1_In_Frame_Del_p.E136del|CHD4_ENST00000309577.6_In_Frame_Del_p.E139del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	139	Poly-Asp.		E -> D (in dbSNP:rs1639122). {ECO:0000269|PubMed:7575689}.		ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	0				central_nervous_system(2)	2						c.(415-420)GAGGAT>GAT		chromodomain helicase DNA binding protein 4																																				SO:0001651	inframe_deletion	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711145_6711147delTCC	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.417_419delGGA	12.37:g.6711154_6711156delTCC	ENSP00000349508:p.Glu139del					CHD4_uc001qpn.2_In_Frame_Del_p.E132del|CHD4_uc001qpp.2_In_Frame_Del_p.E136del	p.E139del	NM_001273	NP_001264	Q14839	CHD4_HUMAN			4	581_583	-			139			Poly-Asp.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.417_419delGGA	CCDS8552.1																																																																																				0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		27	286	NA	NA	NA	NA	27	286	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18856797	18856807	+	Frame_Shift_Del	DEL	GGAGTCTTCAG	GGAGTCTTCAG	-	rs530993234|rs373116735		TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr16:18856797_18856807delGGAGTCTTCAG	ENST00000446231.2	-	39	6575_6585	c.6163_6173delCTGAAGACTCC	c.(6163-6174)ctgaagactccafs	p.LKTP2055fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.LKTP2055fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2055					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P2058Q(1)|p.P2054Q(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGGGTTCAATGGAGTCTTCAGTTTTTCTAGG	0.455																																						uc002dfm.2		NA																	2	Substitution - Missense(2)		endometrium(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(6163-6174)CTGAAGACTCCAfs		PI-3-kinase-related kinase SMG-1																																				SO:0001589	frameshift_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18856797_18856807delGGAGTCTTCAG	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6163_6173delCTGAAGACTCC	16.37:g.18856797_18856807delGGAGTCTTCAG	ENSP00000402515:p.Leu2055fs					SMG1_uc010bwb.2_Frame_Shift_Del_p.L1915fs|SMG1_uc010bwa.2_Frame_Shift_Del_p.L786fs|SMG1_uc002dfo.3_Frame_Shift_Del_p.L353fs	p.L2055fs	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			39	6526_6536	-			2055_2058					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Del	DEL	ENST00000446231.2	37	c.6163_6173delCTGAAGACTCC	CCDS45430.1																																																																																				0.455	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		14	40	NA	NA	NA	NA	14	40	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26971123	26971123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr17:26971123delA	ENST00000528896.2	-	2	225	c.151delT	c.(151-153)tggfs	p.W51fs	KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	51						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTCTGGATCCAAAAAAAGCGG	0.478											OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hbu.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(151-153)TGGfs		hypothetical protein LOC9703 precursor							84.0	95.0	91.0					17																	26971123		2203	4300	6503	SO:0001589	frameshift_variant	9703					extracellular region		g.chr17:26971123delA	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.151delT	17.37:g.26971123delA	ENSP00000436773:p.Trp51fs		OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	KIAA0100_uc002hbv.2_Frame_Shift_Del_p.W51fs|KIAA0100_uc010crr.1_5'UTR	p.W51fs	NM_014680	NP_055495	Q14667	K0100_HUMAN			2	250	-	Lung NSC(42;0.00431)		51					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Frame_Shift_Del	DEL	ENST00000528896.2	37	c.151delT	CCDS32595.1																																																																																				0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		7	136	NA	NA	NA	NA	7	136	---	---	---	---
