#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_filter	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KIF1B	23095	broad.mit.edu	37	1	10425162	10425162	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:10425162G>A	ENST00000377086.1	+	42	4573	c.4371G>A	c.(4369-4371)atG>atA	p.M1457I	KIF1B_ENST00000263934.6_Missense_Mutation_p.M1411I|KIF1B_ENST00000377081.1_Missense_Mutation_p.M1457I			O60333	KIF1B_HUMAN	kinesin family member 1B	1457					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.M1411I(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCTTAGGTATGCAGAGAAGGA	0.383																																						uc001aqx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(4369-4371)ATG>ATA		kinesin family member 1B isoform b							43.0	46.0	45.0					1																	10425162		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425162G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4371G>A	1.37:g.10425162G>A	ENSP00000366290:p.Met1457Ile					KIF1B_uc001aqw.3_Missense_Mutation_p.M1411I|KIF1B_uc001aqy.2_Missense_Mutation_p.M1431I|KIF1B_uc001aqz.2_Missense_Mutation_p.M1457I|KIF1B_uc001ara.2_Missense_Mutation_p.M1417I|KIF1B_uc001arb.2_Missense_Mutation_p.M1443I	p.M1457I	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	42	4573	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1457					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4371G>A		.	.	.	.	.	.	.	.	.	.	G	18.62	3.663670	0.67700	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72394	-0.57;-0.65;-0.65	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	L	0.34521	1.04	0.80722	D	1	P;P;D;P;P;P	0.61697	0.653;0.872;0.99;0.653;0.69;0.656	B;B;P;B;B;P	0.56088	0.243;0.185;0.791;0.297;0.164;0.584	T	0.75972	-0.3129	10	0.52906	T	0.07	.	18.9755	0.92735	0.0:0.0:1.0:0.0	.	1443;1417;1457;1431;1457;1411	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	I	1457;1411;1457;1457	ENSP00000263934:M1411I;ENSP00000366290:M1457I;ENSP00000366284:M1457I	ENSP00000263934:M1411I	M	+	3	0	KIF1B	10347749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.458000	0.83093	0.650000	0.86243	ATG		PASS	0.383	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			26	39	26	39	---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10716794	10716794	+	Splice_Site	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:10716794C>G	ENST00000377022.3	-	8	1727		c.e8-1		RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Splice_Site	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1						multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCCCGAGAACCTGGAGGGAGG	0.662																																						uc001aro.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e8-1		castor homolog 1, zinc finger isoform a							65.0	52.0	56.0					1																	10716794		2198	4295	6493	SO:0001630	splice_region_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10716794C>G	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1410-1G>C	1.37:g.10716794C>G						CASZ1_uc001arp.1_Splice_Site_p.R470_splice|CASZ1_uc009vmx.2_Splice_Site_p.R494_splice	p.R470_splice	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	8	1730	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)						Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Splice_Site	SNP	ENST00000377022.3	37	c.1410_splice	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433788	0.83776	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6192	0.88076	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CASZ1	10639381	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.387000	0.79785	2.237000	0.73441	0.655000	0.94253	.		PASS	0.662	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766	Intron	3	4	3	4	---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11297936	11297936	+	Silent	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:11297936G>A	ENST00000361445.4	-	13	2248	c.2172C>T	c.(2170-2172)gcC>gcT	p.A724A		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	724					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A724A(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCATGACAAAGGCAGGGTTCA	0.557																																						uc001asd.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(2170-2172)GCC>GCT		FK506 binding protein 12-rapamycin associated							91.0	74.0	80.0					1																	11297936		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11297936G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2172C>T	1.37:g.11297936G>A							p.A724A	NM_004958	NP_004949	P42345	MTOR_HUMAN			13	2293	-			724					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.2172C>T	CCDS127.1																																																																																				PASS	0.557	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		27	44	27	44	---	---	---	---
CLCN6	1185	broad.mit.edu	37	1	11898493	11898493	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:11898493G>A	ENST00000346436.6	+	21	2449	c.2397G>A	c.(2395-2397)atG>atA	p.M799I	NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000376487.3_Missense_Mutation_p.M777I|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.M799I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	799					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.M799I(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGCGCATGATCGTGGTGA	0.657											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ate.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2395-2397)ATG>ATA		chloride channel 6 isoform ClC-6a							98.0	91.0	93.0					1																	11898493		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11898493G>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2397G>A	1.37:g.11898493G>A	ENSP00000234488:p.Met799Ile		OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	CLCN6_uc010oat.1_Missense_Mutation_p.M515I|CLCN6_uc010oau.1_Missense_Mutation_p.M777I|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oaz.1_5'Flank|CLCN6_uc010oba.1_5'Flank	p.M799I	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	21	2510	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	799			Cytoplasmic (By similarity).		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.2397G>A	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146332	0.57044	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.87650	-2.28;-2.28;-2.28	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.89993	0.6876	M	0.62723	1.935	0.80722	D	1	D;D	0.56968	0.978;0.963	P;P	0.53861	0.736;0.549	D	0.87189	0.2233	10	0.22706	T	0.39	-42.8812	18.7705	0.91890	0.0:0.0:1.0:0.0	.	777;799	F8W9R3;P51797	.;CLCN6_HUMAN	I	799;777;799	ENSP00000234488:M799I;ENSP00000365670:M777I;ENSP00000365679:M799I	ENSP00000234488:M799I	M	+	3	0	CLCN6	11821080	1.000000	0.71417	0.997000	0.53966	0.107000	0.19398	9.331000	0.96430	2.677000	0.91161	0.561000	0.74099	ATG		PASS	0.657	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		15	25	15	25	---	---	---	---
PRAMEF10	343071	broad.mit.edu	37	1	12955401	12955401	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:12955401A>G	ENST00000235347.4	-	2	357	c.278T>C	c.(277-279)gTt>gCt	p.V93A		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	93					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.V93A(1)		NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGGGCGAACCTTCTGGGC	0.607																																						uc001auo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(277-279)GTT>GCT		PRAME family member 10							20.0	21.0	20.0					1																	12955401		1915	3651	5566	SO:0001583	missense	343071							g.chr1:12955401A>G	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.278T>C	1.37:g.12955401A>G	ENSP00000235347:p.Val93Ala						p.V93A	NM_001039361	NP_001034450	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	351	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	93					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.278T>C	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	10.54	1.379019	0.24944	.	.	ENSG00000187545	ENST00000235347	T	0.48201	0.82	1.99	1.99	0.26369	.	3.556960	0.00649	N	0.000553	T	0.52256	0.1723	M	0.78916	2.43	0.09310	N	1	P	0.36616	0.561	B	0.38755	0.281	T	0.35919	-0.9769	10	0.32370	T	0.25	.	6.0147	0.19596	1.0:0.0:0.0:0.0	.	93	O60809	PRA10_HUMAN	A	93	ENSP00000235347:V93A	ENSP00000235347:V93A	V	-	2	0	PRAMEF10	12877988	0.000000	0.05858	0.008000	0.14137	0.112000	0.19704	0.110000	0.15437	1.174000	0.42811	0.329000	0.21502	GTT		PASS	0.607	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		12	6	12	6	---	---	---	---
SLC25A34	284723	broad.mit.edu	37	1	16065173	16065173	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:16065173G>T	ENST00000294454.5	+	4	763	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	RP11-169K16.4_ENST00000418525.1_RNA|SLC25A34_ENST00000489568.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	228					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.D228Y(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACTCCCTTCGATGTGGTCAG	0.652																																						uc001axb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)GAT>TAT		solute carrier family 25, member 34							78.0	73.0	75.0					1																	16065173		2203	4300	6503	SO:0001583	missense	284723				transport	integral to membrane|mitochondrial inner membrane		g.chr1:16065173G>T	BC027998	CCDS162.1	1p36.13	2013-05-22			ENSG00000162461	ENSG00000162461		"""Solute carriers"""	27653	protein-coding gene	gene with protein product		610817					Standard	NM_207348		Approved	DKFZp781A10161	uc001axb.1	Q6PIV7	OTTHUMG00000003063	ENST00000294454.5:c.682G>T	1.37:g.16065173G>T	ENSP00000294454:p.Asp228Tyr					SLC25A34_uc009vok.1_5'Flank	p.D228Y	NM_207348	NP_997231	Q6PIV7	S2534_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	854	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	228			Solcar 3.		Q68DV0	Missense_Mutation	SNP	ENST00000294454.5	37	c.682G>T	CCDS162.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300767	0.60195	.	.	ENSG00000162461	ENST00000294454	D	0.84660	-1.88	5.08	5.08	0.68730	Mitochondrial carrier domain (2);	0.048667	0.85682	D	0.000000	D	0.95956	0.8683	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98068	1.0397	10	0.87932	D	0	.	18.469	0.90766	0.0:0.0:1.0:0.0	.	228	Q6PIV7	S2534_HUMAN	Y	228	ENSP00000294454:D228Y	ENSP00000294454:D228Y	D	+	1	0	SLC25A34	15937760	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	9.003000	0.93577	2.339000	0.79563	0.563000	0.77884	GAT		PASS	0.652	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008467.1	NM_207348		16	39	16	39	---	---	---	---
RUNX3	864	broad.mit.edu	37	1	25229099	25229099	+	Silent	SNP	C	C	A	rs377188925		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:25229099C>A	ENST00000308873.6	-	5	770	c.762G>T	c.(760-762)acG>acT	p.T254T	RUNX3_ENST00000338888.3_Silent_p.T268T|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000540420.1_Silent_p.T161T|RUNX3_ENST00000399916.1_Silent_p.T268T	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	254	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T254T(1)|p.T268T(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGGTTGGCAGCGTGGGGAAGG	0.642																																						uc001bjq.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(760-762)ACG>ACT		runt-related transcription factor 3 isoform 2							77.0	76.0	77.0					1																	25229099		2193	4286	6479	SO:0001819	synonymous_variant	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25229099C>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.762G>T	1.37:g.25229099C>A						RUNX3_uc010oen.1_Silent_p.T201T|RUNX3_uc009vrj.2_Silent_p.T268T|RUNX3_uc001bjr.2_Silent_p.T268T|RUNX3_uc001bjs.2_RNA	p.T254T	NM_004350	NP_004341	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	5	1173	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	254			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	c.762G>T	CCDS257.1																																																																																				PASS	0.642	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		3	125	3	125	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34076683	34076683	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:34076683C>T	ENST00000373380.1	-	20	3140	c.2920G>A	c.(2920-2922)Gac>Aac	p.D974N	CSMD2_ENST00000373388.2_Missense_Mutation_p.D200N|CSMD2_ENST00000373381.4_Missense_Mutation_p.D2101N|CSMD2_ENST00000373377.1_Missense_Mutation_p.D200N			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2061	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D2061N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGGAGTGGTCGCTGTGGAAA	0.567																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(6181-6183)GAC>AAC		CUB and Sushi multiple domains 2							118.0	99.0	106.0					1																	34076683		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34076683C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2920G>A	1.37:g.34076683C>T	ENSP00000362478:p.Asp974Asn					CSMD2_uc001bxm.1_Missense_Mutation_p.D2101N|CSMD2_uc001bxo.1_Missense_Mutation_p.D974N	p.D2061N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			41	6210	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2061			CUB 12.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6181G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.445981	0.96187	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.26	5.26	0.73747	CUB (5);	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.72478	-0.4281	10	0.72032	D	0.01	.	17.8662	0.88795	0.0:1.0:0.0:0.0	.	974;2061;2101	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	N	2101;974;200;200	ENSP00000362479:D2101N;ENSP00000362478:D974N;ENSP00000362475:D200N;ENSP00000362486:D200N	ENSP00000241312:D2061N	D	-	1	0	CSMD2	33849270	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.747000	0.85070	2.470000	0.83445	0.561000	0.74099	GAC		PASS	0.567	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		16	14	16	14	---	---	---	---
SLC1A7	6512	broad.mit.edu	37	1	53555558	53555558	+	Silent	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:53555558G>C	ENST00000371494.4	-	9	1402	c.1275C>G	c.(1273-1275)gcC>gcG	p.A425A	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	425					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.A425A(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		TGACGAGGCCGGCCTGGGGGA	0.627																																					NSCLC(128;80 1811 21245 38490 51715)	uc001cuy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1273-1275)GCC>GCG		solute carrier family 1 (glutamate transporter),	L-Glutamic Acid(DB00142)						73.0	66.0	69.0					1																	53555558		2203	4300	6503	SO:0001819	synonymous_variant	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53555558G>C	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.1275C>G	1.37:g.53555558G>C						SLC1A7_uc001cux.2_Silent_p.A78A	p.A425A	NM_006671	NP_006662	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	9	1443	-			425			Helical; (Potential).		Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	c.1275C>G	CCDS574.1																																																																																				PASS	0.627	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		28	49	28	49	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75037105	75037105	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:75037105C>A	ENST00000326665.5	-	14	4507	c.4289G>T	c.(4288-4290)gGg>gTg	p.G1430V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1430	Glu-rich.							p.G1430V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGTGCCCACCCCAGCCTCTGT	0.607																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4288-4290)GGG>GTG		hypothetical protein LOC127254							106.0	109.0	108.0					1																	75037105		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037105C>A																												ENST00000326665.5:c.4289G>T	1.37:g.75037105C>A	ENSP00000322609:p.Gly1430Val						p.G1430V	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4508	-			1430			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4289G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350823	0.24512	.	.	ENSG00000178965	ENST00000326665	T	0.12569	2.67	3.56	-0.402	0.12404	.	.	.	.	.	T	0.04092	0.0114	N	0.14661	0.345	0.18873	N	0.999988	D	0.58268	0.982	P	0.51866	0.682	T	0.32402	-0.9908	9	0.41790	T	0.15	-0.7064	6.1717	0.20421	0.0:0.2977:0.0:0.7023	.	1430	Q5RHP9	CA173_HUMAN	V	1430	ENSP00000322609:G1430V	ENSP00000322609:G1430V	G	-	2	0	C1orf173	74809693	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.613000	0.05610	0.037000	0.15575	0.561000	0.74099	GGG		PASS	0.607	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			50	145	50	145	---	---	---	---
FAM73A	374986	broad.mit.edu	37	1	78268972	78268972	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:78268972A>G	ENST00000370791.3	+	4	423	c.391A>G	c.(391-393)Agc>Ggc	p.S131G	FAM73A_ENST00000443751.2_Missense_Mutation_p.S93G	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	131						integral component of membrane (GO:0016021)		p.S131G(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TTGTTCCAGTAGCAGACAGAA	0.284																																						uc001dhx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(391-393)AGC>GGC		hypothetical protein LOC374986							60.0	60.0	60.0					1																	78268972		2203	4297	6500	SO:0001583	missense	374986					integral to membrane		g.chr1:78268972A>G		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.391A>G	1.37:g.78268972A>G	ENSP00000359827:p.Ser131Gly					FAM73A_uc010ork.1_Missense_Mutation_p.S131G|FAM73A_uc010orl.1_Missense_Mutation_p.S93G|FAM73A_uc001dhy.1_5'UTR	p.S131G	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	4	423	+			131					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.391A>G	CCDS681.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552591	0.65425	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.24723	1.84;1.84	4.72	4.72	0.59763	.	0.233889	0.48286	D	0.000182	T	0.28863	0.0716	M	0.76328	2.33	0.45930	D	0.998765	P;P;P	0.50819	0.939;0.891;0.891	P;P;P	0.48952	0.503;0.596;0.596	T	0.17806	-1.0357	10	0.72032	D	0.01	-13.1397	14.5034	0.67737	1.0:0.0:0.0:0.0	.	93;131;131	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	G	131;93	ENSP00000359827:S131G;ENSP00000393675:S93G	ENSP00000359827:S131G	S	+	1	0	FAM73A	78041560	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	6.531000	0.73820	1.908000	0.55244	0.454000	0.30748	AGC		PASS	0.284	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		6	101	6	101	---	---	---	---
CD53	963	broad.mit.edu	37	1	111435128	111435128	+	Silent	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:111435128C>A	ENST00000271324.5	+	3	337	c.225C>A	c.(223-225)atC>atA	p.I75I	CD53_ENST00000429072.2_Silent_p.I75I	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	75					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I75I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TGGGCTCTATCAAGGAAAACA	0.517																																						uc001dzw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(223-225)ATC>ATA		CD53 antigen							231.0	211.0	218.0					1																	111435128		2203	4300	6503	SO:0001819	synonymous_variant	963				signal transduction	integral to membrane|plasma membrane		g.chr1:111435128C>A	BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.225C>A	1.37:g.111435128C>A						CD53_uc001dzx.2_Silent_p.I75I|CD53_uc010owa.1_Silent_p.I75I|CD53_uc001dzy.2_Silent_p.I75I	p.I75I	NM_001040033	NP_001035122	P19397	CD53_HUMAN		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)	4	396	+		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	75			Cytoplasmic (Potential).		B2R905|Q5U0D6	Silent	SNP	ENST00000271324.5	37	c.225C>A	CCDS829.1																																																																																				PASS	0.517	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560		5	243	5	243	---	---	---	---
GJA8	2703	broad.mit.edu	37	1	147380119	147380119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:147380119G>T	ENST00000369235.1	+	1	37	c.37G>T	c.(37-39)Gag>Tag	p.E13*	GJA8_ENST00000240986.4_Nonsense_Mutation_p.E13*			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	13					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.E13*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CATCTTGGAGGAGGTGAATGA	0.577																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(37-39)GAG>TAG		connexin 50							112.0	109.0	110.0					1																	147380119		2203	4300	6503	SO:0001587	stop_gained	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380119G>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.37G>T	1.37:g.147380119G>T	ENSP00000358238:p.Glu13*						p.E13*	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	100	+	all_hematologic(923;0.0276)		13			Cytoplasmic (Potential).		A7L5M5|Q5VVN9|Q9NP25	Nonsense_Mutation	SNP	ENST00000369235.1	37	c.37G>T	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	36	5.951833	0.97139	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	.	.	.	5.03	5.03	0.67393	.	0.055737	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	15.0257	0.71669	0.0:0.1532:0.8468:0.0	.	.	.	.	X	13	.	ENSP00000240986:E13X	E	+	1	0	GJA8	145846743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.366000	0.73095	2.320000	0.78422	0.591000	0.81541	GAG		PASS	0.577	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		34	111	34	111	---	---	---	---
NES	10763	broad.mit.edu	37	1	156639573	156639573	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:156639573C>G	ENST00000368223.3	-	4	4539	c.4407G>C	c.(4405-4407)tgG>tgC	p.W1469C		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1469	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.W1469C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCTGTCATCCCAGGGGACAC	0.612																																						uc001fpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(4405-4407)TGG>TGC		nestin							54.0	56.0	56.0					1																	156639573		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156639573C>G	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4407G>C	1.37:g.156639573C>G	ENSP00000357206:p.Trp1469Cys						p.W1469C	NM_006617	NP_006608	P48681	NEST_HUMAN			4	4540	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1469			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.4407G>C	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735691	0.30774	.	.	ENSG00000132688	ENST00000368223	D	0.87412	-2.25	4.55	2.24	0.28232	.	0.605038	0.12680	N	0.448050	D	0.83709	0.5313	M	0.65498	2.005	0.28424	N	0.91758	D	0.64830	0.994	P	0.51355	0.667	T	0.75199	-0.3402	10	0.87932	D	0	.	10.5849	0.45278	0.0:0.8001:0.0:0.1999	.	1469	P48681	NEST_HUMAN	C	1469	ENSP00000357206:W1469C	ENSP00000357206:W1469C	W	-	3	0	NES	154906197	0.000000	0.05858	0.965000	0.40720	0.582000	0.36321	-0.178000	0.09782	0.895000	0.36342	0.557000	0.71058	TGG		PASS	0.612	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		30	35	30	35	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687756	158687756	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:158687756C>G	ENST00000368146.1	-	1	197	c.198G>C	c.(196-198)agG>agC	p.R66S	OR6K3_ENST00000368145.1_Missense_Mutation_p.R50S			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R66S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GGGTGTCCAGCCTTACAGCAG	0.398																																						uc010pip.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(196-198)AGG>AGC		olfactory receptor, family 6, subfamily K,							122.0	136.0	131.0					1																	158687756		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687756C>G	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.198G>C	1.37:g.158687756C>G	ENSP00000357128:p.Arg66Ser						p.R66S	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	198	-	all_hematologic(112;0.0378)		66			Cytoplasmic (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.198G>C		.	.	.	.	.	.	.	.	.	.	C	1.513	-0.548856	0.04024	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.02890	4.12;4.12	3.97	-1.43	0.08884	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	N	0.21097	0.63	0.09310	N	1	B	0.26120	0.142	B	0.23275	0.045	T	0.44847	-0.9301	9	0.27082	T	0.32	.	4.9564	0.14044	0.1576:0.2935:0.0:0.5489	.	66	Q8NGY3	OR6K3_HUMAN	S	50;66	ENSP00000357127:R50S;ENSP00000357128:R66S	ENSP00000357127:R50S	R	-	3	2	OR6K3	156954380	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.511000	0.02260	-0.399000	0.07668	-0.544000	0.04233	AGG		PASS	0.398	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				114	200	114	200	---	---	---	---
SLAMF6	114836	broad.mit.edu	37	1	160466051	160466051	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:160466051G>T	ENST00000368057.3	-	2	242	c.182C>A	c.(181-183)tCt>tAt	p.S61Y	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Missense_Mutation_p.S61Y			Q96DU3	SLAF6_HUMAN	SLAM family member 6	61	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S61Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GAAGGCAAGAGATGTTTCATT	0.478																																						uc001fwe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(181-183)TCT>TAT		activating NK receptor precursor							250.0	228.0	235.0					1																	160466051		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466051G>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.182C>A	1.37:g.160466051G>T	ENSP00000357036:p.Ser61Tyr					SLAMF6_uc001fwd.1_Missense_Mutation_p.S61Y|SLAMF6_uc010pjh.1_Intron|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Intron	p.S61Y	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	242	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		61			Extracellular (Potential).		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.182C>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555882	0.45487	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.66815	-0.23;-0.23	4.95	1.97	0.26223	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.871050	0.10145	N	0.710355	T	0.68128	0.2967	M	0.85777	2.775	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.70716	0.97;0.97	T	0.53114	-0.8484	10	0.29301	T	0.29	-0.8411	4.5024	0.11870	0.189:0.0:0.6343:0.1767	.	61;61	Q96DU3;B2R8X8	SLAF6_HUMAN;.	Y	61	ENSP00000357038:S61Y;ENSP00000357036:S61Y	ENSP00000357036:S61Y	S	-	2	0	SLAMF6	158732675	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.027000	0.13621	0.671000	0.31185	0.655000	0.94253	TCT		PASS	0.478	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		145	220	145	220	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162302887	162302887	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:162302887G>C	ENST00000361897.5	+	5	827	c.425G>C	c.(424-426)aGg>aCg	p.R142T	NOS1AP_ENST00000530878.1_Missense_Mutation_p.R137T	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	142	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.R142T(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AATATCTTCAGGTGTAACGTC	0.448																																						uc001gbv.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)	3						c.(424-426)AGG>ACG		nitric oxide synthase 1 (neuronal) adaptor							112.0	104.0	107.0					1																	162302887		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162302887G>C	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.425G>C	1.37:g.162302887G>C	ENSP00000355133:p.Arg142Thr					NOS1AP_uc010pkr.1_Missense_Mutation_p.R137T|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.R137T	p.R142T	NM_014697	NP_055512	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		5	812	+	all_hematologic(112;0.203)		142			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.425G>C	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806562	0.90623	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.14266	2.52;2.52	5.56	5.56	0.83823	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	L	0.43923	1.385	.	.	.	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79108	0.99;0.992;0.99	T	0.00666	-1.1619	9	0.39692	T	0.17	.	17.0281	0.86453	0.0:0.0:1.0:0.0	.	137;137;142	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	T	137;142	ENSP00000431586:R137T;ENSP00000355133:R142T	ENSP00000355133:R142T	R	+	2	0	NOS1AP	160569511	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.080000	0.76837	2.601000	0.87937	0.655000	0.94253	AGG		PASS	0.448	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		49	74	49	74	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169586442	169586442	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:169586442G>A	ENST00000263686.6	-	3	342	c.305C>T	c.(304-306)aCa>aTa	p.T102I	SELP_ENST00000367792.2_Missense_Mutation_p.T102I|SELP_ENST00000458599.2_Missense_Mutation_p.T102I|SELP_ENST00000367793.2_Missense_Mutation_p.T102I|SELP_ENST00000367794.2_Missense_Mutation_p.T102I|SELP_ENST00000367786.2_Missense_Mutation_p.T102I|SELP_ENST00000367791.2_Missense_Mutation_p.T102I|SELP_ENST00000367788.2_Missense_Mutation_p.T102I	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	102	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.T102I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCCCACCCATGTCCATGTCTT	0.443																																						uc001ggi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(304-306)ACA>ATA		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						282.0	246.0	258.0					1																	169586442		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169586442G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.305C>T	1.37:g.169586442G>A	ENSP00000263686:p.Thr102Ile					SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.T102I	p.T102I	NM_003005	NP_002996	P16109	LYAM3_HUMAN			3	370	-	all_hematologic(923;0.208)		102			Extracellular (Potential).|C-type lectin.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.305C>T	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873763	0.72180	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.9	4.03	0.46877	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.56097	D	0.000028	T	0.24044	0.0582	L	0.46567	1.45	0.44142	D	0.996932	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01583	-1.1319	10	0.42905	T	0.14	-26.5588	10.4224	0.44359	0.158:0.0:0.842:0.0	.	102;102	Q6NUL9;P16109	.;LYAM3_HUMAN	I	102;102;101;102;102;102;102;102;102;102;102;102;87	ENSP00000263686:T102I;ENSP00000356767:T102I;ENSP00000356768:T102I;ENSP00000356766:T102I;ENSP00000356765:T102I;ENSP00000356762:T102I;ENSP00000356760:T102I	ENSP00000263686:T102I	T	-	2	0	SELP	167853066	1.000000	0.71417	0.972000	0.41901	0.874000	0.50279	5.399000	0.66314	0.828000	0.34709	0.563000	0.77884	ACA		PASS	0.443	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		172	228	172	228	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175375773	175375773	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:175375773G>C	ENST00000367674.2	-	3	786	c.78C>G	c.(76-78)atC>atG	p.I26M	TNR_ENST00000263525.2_Missense_Mutation_p.I26M			Q92752	TENR_HUMAN	tenascin R	26					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.I26M(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGAAGGCTTGATCATGGAGC	0.532																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(76-78)ATC>ATG		tenascin R precursor							194.0	171.0	179.0					1																	175375773		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375773G>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.78C>G	1.37:g.175375773G>C	ENSP00000356646:p.Ile26Met					TNR_uc009wwu.1_Missense_Mutation_p.I26M|TNR_uc010pmz.1_Missense_Mutation_p.I26M	p.I26M	NM_003285	NP_003276	Q92752	TENR_HUMAN			1	159	-	Renal(580;0.146)		26					C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.78C>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602306	0.28534	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.26957	1.7;1.7	5.56	3.67	0.42095	.	0.360996	0.29100	N	0.013149	T	0.10380	0.0254	N	0.03608	-0.345	0.09310	N	0.999993	B;B	0.17465	0.022;0.01	B;B	0.17098	0.01;0.017	T	0.13361	-1.0512	10	0.54805	T	0.06	.	5.2048	0.15285	0.2938:0.1441:0.5621:0.0	.	26;26	B4DIX8;Q92752	.;TENR_HUMAN	M	26	ENSP00000356646:I26M;ENSP00000263525:I26M	ENSP00000263525:I26M	I	-	3	3	TNR	173642396	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	1.362000	0.34148	1.343000	0.45638	0.561000	0.74099	ATC		PASS	0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		116	166	116	166	---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182544550	182544550	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:182544550C>A	ENST00000367559.3	-	7	2456	c.2203G>T	c.(2203-2205)Ggg>Tgg	p.G735W	RNASEL_ENST00000444138.1_Missense_Mutation_p.G735W	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	735					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.G735W(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTGGCCAACCCACTGGCCCCA	0.488																																						uc001gpj.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(1)	5						c.(2203-2205)GGG>TGG		ribonuclease L							141.0	140.0	140.0					1																	182544550		2203	4300	6503	SO:0001583	missense	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182544550C>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.2203G>T	1.37:g.182544550C>A	ENSP00000356530:p.Gly735Trp					RNASEL_uc009wxz.1_Missense_Mutation_p.G735W	p.G735W	NM_021133	NP_066956	Q05823	RN5A_HUMAN			6	2370	-			735					Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.2203G>T	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	6.566	0.472739	0.12461	.	.	ENSG00000135828	ENST00000367559;ENST00000444138	T;T	0.34667	1.35;1.35	3.29	-1.5	0.08691	.	2.511690	0.02018	N	0.047579	T	0.21550	0.0519	N	0.08118	0	0.09310	N	1	P	0.34699	0.464	B	0.33042	0.157	T	0.24977	-1.0145	10	0.59425	D	0.04	-1.0E-4	8.5715	0.33572	0.0:0.5629:0.0:0.4371	.	735	Q05823	RN5A_HUMAN	W	735	ENSP00000356530:G735W;ENSP00000411147:G735W	ENSP00000356530:G735W	G	-	1	0	RNASEL	180811173	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.627000	0.05521	-0.663000	0.05331	-1.731000	0.00696	GGG		PASS	0.488	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		63	141	63	141	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183498558	183498558	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:183498558G>C	ENST00000347615.2	+	8	852	c.733G>C	c.(733-735)Ggt>Cgt	p.G245R	SMG7_ENST00000508461.1_Missense_Mutation_p.G203R|SMG7_ENST00000515829.2_Missense_Mutation_p.G245R|SMG7_ENST00000367537.3_Missense_Mutation_p.G274R|SMG7_ENST00000507469.1_Missense_Mutation_p.G245R|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000456731.2_Missense_Mutation_p.G203R	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	245					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.G245R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACCAAGTGGGGTGTTTCTGA	0.418																																						uc001gqg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(733-735)GGT>CGT		SMG-7 homolog isoform 1							81.0	80.0	80.0					1																	183498558		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183498558G>C	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.733G>C	1.37:g.183498558G>C	ENSP00000340766:p.Gly245Arg					SMG7_uc010pob.1_Missense_Mutation_p.G274R|SMG7_uc001gqf.2_Missense_Mutation_p.G245R|SMG7_uc001gqh.2_Missense_Mutation_p.G245R|SMG7_uc001gqi.2_Missense_Mutation_p.G203R|SMG7_uc010poc.1_Missense_Mutation_p.G203R	p.G245R	NM_173156	NP_775179	Q92540	SMG7_HUMAN			8	855	+			245					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.733G>C	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232470	0.39498	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	4.86	1.97	0.26223	.	0.260017	0.44483	D	0.000456	T	0.18383	0.0441	N	0.22421	0.69	0.45704	D	0.998613	B;B;B;B;B;P	0.35226	0.105;0.351;0.213;0.145;0.213;0.491	B;B;B;B;B;B	0.37198	0.046;0.243;0.213;0.101;0.229;0.243	T	0.05435	-1.0885	10	0.15499	T	0.54	-1.8648	9.4033	0.38447	0.3195:0.0:0.6805:0.0	.	203;274;203;245;245;245	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	R	203;274;203;203;245;245;245	ENSP00000407629:G203R;ENSP00000356507:G274R;ENSP00000426915:G203R;ENSP00000388390:G203R;ENSP00000340766:G245R;ENSP00000425133:G245R;ENSP00000421358:G245R	ENSP00000340766:G245R	G	+	1	0	SMG7	181765181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.052000	0.49893	0.199000	0.20427	-0.136000	0.14681	GGT		PASS	0.418	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		9	201	9	201	---	---	---	---
UCHL5	51377	broad.mit.edu	37	1	193018982	193018982	+	Splice_Site	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:193018982C>A	ENST00000367455.4	-	3	376		c.e3-1		UCHL5_ENST00000367448.1_Splice_Site|UCHL5_ENST00000530098.2_Intron|UCHL5_ENST00000367454.1_Splice_Site|UCHL5_ENST00000367452.4_Splice_Site|UCHL5_ENST00000367451.4_Splice_Site|UCHL5_ENST00000483156.1_Splice_Site|UCHL5_ENST00000367449.1_Splice_Site	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						ATGAACTGGCCTACAAAATAA	0.343																																						uc001gsm.2																			1	Unknown(1)		lung(1)	lung(2)|ovary(1)	3						c.e3-1		ubiquitin carboxyl-terminal hydrolase L5							41.0	43.0	42.0					1																	193018982		2203	4300	6503	SO:0001630	splice_region_variant	51377				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:193018982C>A		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.141-1G>T	1.37:g.193018982C>A						UCHL5_uc001gsn.2_Splice_Site|UCHL5_uc001gso.2_Splice_Site_p.K47_splice|UCHL5_uc010pov.1_Splice_Site|UCHL5_uc001gsp.2_Splice_Site_p.K47_splice|UCHL5_uc001gsq.2_Splice_Site_p.K47_splice|UCHL5_uc010pow.1_Splice_Site|UCHL5_uc010pox.1_Intron	p.K47_splice	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN			3	272	-								Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Splice_Site	SNP	ENST00000367455.4	37	c.141_splice	CCDS1378.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243318	0.79912	.	.	ENSG00000116750	ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000391991;ENST00000421683	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6767	0.88232	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UCHL5	191285605	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.963000	0.76055	2.535000	0.85469	0.591000	0.81541	.		PASS	0.343	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984	Intron	23	49	23	49	---	---	---	---
CAMK1G	57172	broad.mit.edu	37	1	209786165	209786165	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:209786165C>G	ENST00000009105.1	+	12	1621	c.1376C>G	c.(1375-1377)gCc>gGc	p.A459G	CAMK1G_ENST00000361322.2_Missense_Mutation_p.A459G			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	459						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.A459G(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCAGTTAAAGCCAGTGGCAGC	0.507																																					Ovarian(163;530 1939 9680 28669 48710)	uc001hhd.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1375-1377)GCC>GGC		calcium/calmodulin-dependent protein kinase IG							99.0	99.0	99.0					1																	209786165		2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209786165C>G		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1376C>G	1.37:g.209786165C>G	ENSP00000009105:p.Ala459Gly					CAMK1G_uc001hhe.2_Missense_Mutation_p.A459G	p.A459G	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	12	1478	+			459					Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.1376C>G	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	C	2.750	-0.260355	0.05791	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.68765	-0.35;-0.35	5.29	3.33	0.38152	.	0.674546	0.13558	N	0.378984	T	0.47340	0.1440	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	10	0.44086	T	0.13	.	13.4814	0.61338	0.0:0.7027:0.2973:0.0	.	459	Q96NX5	KCC1G_HUMAN	G	459	ENSP00000009105:A459G;ENSP00000354861:A459G	ENSP00000009105:A459G	A	+	2	0	CAMK1G	207852788	0.467000	0.25831	0.012000	0.15200	0.017000	0.09413	1.015000	0.29963	1.224000	0.43551	-0.304000	0.09214	GCC		PASS	0.507	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		23	64	23	64	---	---	---	---
SYT14	255928	broad.mit.edu	37	1	210126103	210126103	+	Splice_Site	SNP	T	T	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:210126103T>A	ENST00000472886.1	+	2	75		c.e2+2		SYT14_ENST00000367015.1_Splice_Site|SYT14_ENST00000537238.1_Splice_Site|SYT14_ENST00000534859.1_Splice_Site|SYT14_ENST00000367019.1_Splice_Site|SYT14_ENST00000422431.1_Splice_Site|SYT14_ENST00000271745.7_Splice_Site|SYT14_ENST00000399639.2_Splice_Site			Q8NB59	SYT14_HUMAN	synaptotagmin XIV						cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.?(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTAGAAAAGGTAAGTCATTGC	0.318																																						uc009xcv.2																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e2+2		synaptotagmin XIV isoform 4							89.0	88.0	88.0					1																	210126103		2203	4296	6499	SO:0001630	splice_region_variant	255928					integral to membrane		g.chr1:210126103T>A	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.61+2T>A	1.37:g.210126103T>A						SYT14_uc001hhs.3_Splice_Site_p.K25_splice|SYT14_uc001hht.3_Splice_Site_p.V21_splice|SYT14_uc001hhu.3_Splice_Site|SYT14_uc010psn.1_Splice_Site_p.K25_splice|SYT14_uc010pso.1_Splice_Site	p.V21_splice	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	2	133	+								B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Splice_Site	SNP	ENST00000472886.1	37	c.61_splice	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.274261	0.40194	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000367019;ENST00000472886	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2933	0.49263	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYT14	208192726	1.000000	0.71417	0.996000	0.52242	0.699000	0.40488	4.540000	0.60664	1.979000	0.57680	0.482000	0.46254	.		PASS	0.318	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262	Intron	9	108	9	108	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220153444	220153444	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:220153444T>G	ENST00000366923.3	-	26	3963	c.3694A>C	c.(3694-3696)Agt>Cgt	p.S1232R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1232	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.S1232R(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GCTCTTCCACTAGCAGATATA	0.408																																						uc001hly.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3694-3696)AGT>CGT		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						253.0	235.0	241.0					1																	220153444		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220153444T>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3694A>C	1.37:g.220153444T>G	ENSP00000355890:p.Ser1232Arg						p.S1232R	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	26	3964	-			1232			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.3694A>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.872050	0.91587	.	.	ENSG00000136628	ENST00000366923	T	0.07327	3.2	5.96	5.96	0.96718	Aminoacyl-tRNA synthetase, class II (1);	0.071833	0.85682	D	0.000000	T	0.31796	0.0808	M	0.86573	2.825	0.80722	D	1	P	0.45126	0.851	P	0.57152	0.814	T	0.05649	-1.0872	10	0.87932	D	0	-16.217	16.4484	0.83959	0.0:0.0:0.0:1.0	.	1232	P07814	SYEP_HUMAN	R	1232	ENSP00000355890:S1232R	ENSP00000355890:S1232R	S	-	1	0	EPRS	218220067	1.000000	0.71417	0.907000	0.35723	0.995000	0.86356	8.040000	0.89188	2.285000	0.76669	0.533000	0.62120	AGT		PASS	0.408	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		22	357	22	357	---	---	---	---
CCDC185	164127	broad.mit.edu	37	1	223568525	223568525	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:223568525C>A	ENST00000366875.3	+	1	1811	c.1708C>A	c.(1708-1710)Cag>Aag	p.Q570K		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		570								p.Q570K(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GAAAAAGGAGCAGAGGGTGCA	0.532																																						uc001hoa.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1708-1710)CAG>AAG		hypothetical protein LOC164127							89.0	89.0	89.0					1																	223568525		2203	4300	6503	SO:0001583	missense	164127							g.chr1:223568525C>A																												ENST00000366875.3:c.1708C>A	1.37:g.223568525C>A	ENSP00000355840:p.Gln570Lys						p.Q570K	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1811	+			570			Potential.		Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.1708C>A	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792817	0.31685	.	.	ENSG00000178395	ENST00000366875	T	0.23147	1.92	5.75	5.75	0.90469	.	.	.	.	.	T	0.25975	0.0633	L	0.46157	1.445	0.25845	N	0.984008	P	0.42518	0.782	B	0.41813	0.367	T	0.14643	-1.0465	9	0.34782	T	0.22	.	10.8177	0.46587	0.0:0.9145:0.0:0.0855	.	570	Q8N715	CA065_HUMAN	K	570	ENSP00000355840:Q570K	ENSP00000355840:Q570K	Q	+	1	0	C1orf65	221635148	1.000000	0.71417	0.855000	0.33649	0.795000	0.44927	2.443000	0.44881	2.719000	0.93026	0.655000	0.94253	CAG		PASS	0.532	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			19	51	19	51	---	---	---	---
SDCCAG8	10806	broad.mit.edu	37	1	243504391	243504391	+	Silent	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:243504391G>A	ENST00000366541.3	+	11	1390	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K	SDCCAG8_ENST00000355875.4_Silent_p.K381K|SDCCAG8_ENST00000343783.6_Silent_p.K279K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	424	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.K424K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AGGTGGAAAAGGTTACAAAGG	0.383																																						uc001hzw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1270-1272)AAG>AAA		serologically defined colon cancer antigen 8							87.0	92.0	90.0					1																	243504391		2203	4300	6503	SO:0001819	synonymous_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243504391G>A	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1272G>A	1.37:g.243504391G>A						SDCCAG8_uc010pyk.1_Silent_p.K279K|SDCCAG8_uc010pyl.1_Silent_p.K236K|SDCCAG8_uc001hzx.2_Silent_p.K236K	p.K424K	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	11	1428	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	424			Potential.|Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	c.1272G>A	CCDS31075.1																																																																																				PASS	0.383	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		65	101	65	101	---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3743381	3743381	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:3743381G>T	ENST00000252505.3	+	8	748	c.586G>T	c.(586-588)Gca>Tca	p.A196S	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	215					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.A196S(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CAAAGAACCTGCAGACCTAGT	0.433										HNSCC(21;0.051)																												uc010ewt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(586-588)GCA>TCA		allantoicase isoform a							93.0	94.0	93.0					2																	3743381		1892	4101	5993	SO:0001583	missense	55821						allantoicase activity	g.chr2:3743381G>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.586G>T	2.37:g.3743381G>T	ENSP00000252505:p.Ala196Ser	HNSCC(21;0.051)				ALLC_uc002qyf.2_5'UTR	p.A196S	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	8	747	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	215					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.586G>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	5.273	0.235797	0.10023	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.42	-2.6	0.06190	Galactose-binding domain-like (1);	1.213680	0.05598	N	0.575763	T	0.13072	0.0317	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25047	-1.0143	9	0.31617	T	0.26	-18.348	9.967	0.41730	0.164:0.0:0.6073:0.2287	.	215	Q8N6M5	ALLC_HUMAN	S	196	.	ENSP00000252505:A196S	A	+	1	0	ALLC	3721256	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.424000	0.07025	-0.093000	0.12396	-0.258000	0.10820	GCA		PASS	0.433	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			25	36	25	36	---	---	---	---
PPM1G	5496	broad.mit.edu	37	2	27607803	27607803	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:27607803C>A	ENST00000344034.4	-	5	826	c.562G>T	c.(562-564)Ggg>Tgg	p.G188W	PPM1G_ENST00000350803.4_Missense_Mutation_p.G188W	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	188					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.G188W(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCTGCCTCCCCATTGAGGCCC	0.592																																						uc002rkl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(562-564)GGG>TGG		protein phosphatase 1G							158.0	149.0	152.0					2																	27607803		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27607803C>A	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.562G>T	2.37:g.27607803C>A	ENSP00000342778:p.Gly188Trp					PPM1G_uc002rkm.2_Intron	p.G188W	NM_002707	NP_002698	O15355	PPM1G_HUMAN			6	669	-	Acute lymphoblastic leukemia(172;0.155)		188						Missense_Mutation	SNP	ENST00000344034.4	37	c.562G>T	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952134	0.73787	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412	T;T	0.55234	0.53;0.53	5.75	5.75	0.90469	Protein phosphatase 2C-like (3);	1.056630	0.07340	N	0.880698	T	0.73737	0.3625	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.65307	-0.6200	10	0.72032	D	0.01	-14.3191	18.4871	0.90833	0.0:1.0:0.0:0.0	.	188	O15355	PPM1G_HUMAN	W	188;188;171	ENSP00000342778:G188W;ENSP00000264714:G188W	ENSP00000342778:G188W	G	-	1	0	PPM1G	27461307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.730000	0.74780	2.728000	0.93425	0.655000	0.94253	GGG		PASS	0.592	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		81	130	81	130	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29296801	29296801	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:29296801G>T	ENST00000331664.5	-	1	326	c.327C>A	c.(325-327)caC>caA	p.H109Q		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	109					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.H109Q(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCTTAGCCATGTGGCTTTGTG	0.468																																						uc002rmt.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(325-327)CAC>CAA		hypothetical protein LOC388939							270.0	252.0	257.0					2																	29296801		1955	4151	6106	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296801G>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.327C>A	2.37:g.29296801G>T	ENSP00000332809:p.His109Gln						p.H109Q	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	327	-			109						Missense_Mutation	SNP	ENST00000331664.5	37	c.327C>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	8.982	0.975483	0.18736	.	.	ENSG00000179270	ENST00000331664	T	0.20332	2.08	5.37	3.55	0.40652	.	0.547746	0.18810	N	0.130557	T	0.21227	0.0511	L	0.56769	1.78	0.09310	N	1	B	0.32753	0.383	B	0.32724	0.151	T	0.15809	-1.0424	10	0.62326	D	0.03	-2.6303	8.9419	0.35736	0.2311:0.0:0.7689:0.0	.	109	A6NGG8	CB071_HUMAN	Q	109	ENSP00000332809:H109Q	ENSP00000332809:H109Q	H	-	3	2	C2orf71	29150305	0.002000	0.14202	0.407000	0.26434	0.424000	0.31475	0.431000	0.21444	1.268000	0.44264	0.561000	0.74099	CAC		PASS	0.468	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		117	163	117	163	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48026011	48026011	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:48026011G>A	ENST00000234420.5	+	4	1041	c.889G>A	c.(889-891)Gct>Act	p.A297T	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Missense_Mutation_p.A167T	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	297					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.A297T(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTCAAAGTTGCTCGAAAGCG	0.478			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.3			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	Mis|N|F|S	mutS homolog 6 (E. coli)			E		colorectal|endometrial|ovarian	colorectal		3	Whole gene deletion(2)|Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(2)|lung(1)	large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168						c.(889-891)GCT>ACT	MMR	mutS homolog 6							153.0	163.0	160.0					2																	48026011		2203	4300	6503	SO:0001583	missense	2956	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026011G>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.889G>A	2.37:g.48026011G>A	ENSP00000234420:p.Ala297Thr					MSH6_uc002rwc.2_Missense_Mutation_p.A297T|MSH6_uc010fbj.2_5'UTR|MSH6_uc010yoi.1_Missense_Mutation_p.A167T|MSH6_uc010yoj.1_5'UTR	p.A297T	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1041	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	297					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.889G>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	5.785	0.329122	0.10956	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021	D;D	0.85773	-1.89;-2.03	3.95	3.05	0.35203	.	0.248415	0.39834	N	0.001251	T	0.72882	0.3516	L	0.34521	1.04	0.43637	D	0.996035	B;B;B	0.23540	0.087;0.004;0.006	B;B;B	0.18263	0.021;0.005;0.012	T	0.62163	-0.6912	10	0.11485	T	0.65	-6.104	8.7363	0.34530	0.0:0.4516:0.404:0.1445	.	167;297;297	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	T	297;295;167	ENSP00000234420:A297T;ENSP00000446475:A167T	ENSP00000234420:A297T	A	+	1	0	MSH6	47879515	0.995000	0.38212	0.997000	0.53966	0.646000	0.38490	1.875000	0.39578	1.003000	0.39130	0.561000	0.74099	GCT		PASS	0.478	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		105	160	105	160	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48915454	48915454	+	Silent	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:48915454A>G	ENST00000294954.7	-	11	1503	c.1482T>C	c.(1480-1482)tcT>tcC	p.S494S	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Silent_p.S432S|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Silent_p.S467S	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	494					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.S494S(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CAATTAGAGAAGAAAAGAGCC	0.443																																						uc002rwu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1480-1482)TCT>TCC		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						124.0	110.0	115.0					2																	48915454		2203	4300	6503	SO:0001819	synonymous_variant	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915454A>G		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1482T>C	2.37:g.48915454A>G						GTF2A1L_uc002rwt.2_Intron	p.S494S	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1552	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	494			Helical; Name=4; (Potential).		Q14751|Q15996|Q9UEW9	Silent	SNP	ENST00000294954.7	37	c.1482T>C	CCDS1842.1																																																																																				PASS	0.443	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		53	79	53	79	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55253585	55253585	+	Silent	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:55253585C>G	ENST00000337526.6	-	3	1893	c.1650G>C	c.(1648-1650)ctG>ctC	p.L550L	RTN4_ENST00000405240.1_Silent_p.L344L|RTN4_ENST00000404909.1_Silent_p.L344L|RTN4_ENST00000354474.6_Silent_p.L318L|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Silent_p.L344L|RTN4_ENST00000394611.2_Silent_p.L344L|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	550					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.L344L(1)|p.L550L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AATCTGGAGTCAGGCCTTCAG	0.393																																						uc002rye.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(1648-1650)CTG>CTC		reticulon 4 isoform A							112.0	105.0	107.0					2																	55253585		2203	4300	6503	SO:0001819	synonymous_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253585C>G	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1650G>C	2.37:g.55253585C>G						RTN4_uc002ryd.2_Silent_p.L344L|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	p.L550L	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			3	1948	-			550			Cytoplasmic (Potential).		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Silent	SNP	ENST00000337526.6	37	c.1650G>C	CCDS42684.1																																																																																				PASS	0.393	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			80	124	80	124	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746748	77746748	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:77746748C>A	ENST00000409093.1	-	3	583	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C	LRRTM4_ENST00000409884.1_Missense_Mutation_p.G83C|LRRTM4_ENST00000409088.3_Missense_Mutation_p.G83C|LRRTM4_ENST00000409282.1_Missense_Mutation_p.G84C|LRRTM4_ENST00000409911.1_Missense_Mutation_p.G84C			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	83					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.G83C(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGGTTAAGGCCGGCAAACTGA	0.403																																						uc002snr.2																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(247-249)GGC>TGC		leucine rich repeat transmembrane neuronal 4							131.0	124.0	126.0					2																	77746748		1902	4115	6017	SO:0001583	missense	80059					integral to membrane		g.chr2:77746748C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.247G>T	2.37:g.77746748C>A	ENSP00000386357:p.Gly83Cys					LRRTM4_uc002snq.2_Missense_Mutation_p.G83C|LRRTM4_uc002sns.2_Missense_Mutation_p.G83C|LRRTM4_uc002snt.2_Missense_Mutation_p.G84C	p.G83C	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	662	-			83			LRR 1.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.247G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546047	0.45383	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	5.96	5.07	0.68467	.	0.154837	0.64402	D	0.000013	T	0.73329	0.3573	M	0.72624	2.21	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.74348	0.983;0.97;0.975	T	0.76366	-0.2985	10	0.72032	D	0.01	.	12.6798	0.56916	0.0:0.9182:0.0:0.0818	.	84;83;83	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	C	84;83;83;83;84	ENSP00000387228:G84C;ENSP00000387297:G83C;ENSP00000386357:G83C;ENSP00000386236:G83C;ENSP00000386286:G84C	ENSP00000386236:G83C	G	-	1	0	LRRTM4	77600256	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	3.893000	0.56243	1.486000	0.48398	0.655000	0.94253	GGC		PASS	0.403	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		50	98	50	98	---	---	---	---
IMMT	10989	broad.mit.edu	37	2	86378604	86378604	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:86378604G>C	ENST00000410111.3	-	12	1604	c.1217C>G	c.(1216-1218)gCt>gGt	p.A406G	IMMT_ENST00000449247.2_Missense_Mutation_p.A395G|IMMT_ENST00000442664.2_Missense_Mutation_p.A405G|IMMT_ENST00000409051.2_Missense_Mutation_p.A359G|IMMT_ENST00000254636.5_Missense_Mutation_p.A307G	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	406					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.A406G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATGTGCATGAGCAATGAGGGA	0.428																																						uc002sqz.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1216-1218)GCT>GGT		inner membrane protein, mitochondrial isoform 1							120.0	105.0	110.0					2																	86378604		1989	4185	6174	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86378604G>C	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1217C>G	2.37:g.86378604G>C	ENSP00000387262:p.Ala406Gly					IMMT_uc002sqy.3_Missense_Mutation_p.A147G|IMMT_uc002srb.3_Missense_Mutation_p.A395G|IMMT_uc002sra.3_Missense_Mutation_p.A405G|IMMT_uc010ytd.1_Missense_Mutation_p.A394G|IMMT_uc010yte.1_Missense_Mutation_p.A359G|IMMT_uc002src.1_Missense_Mutation_p.A142G	p.A406G	NM_006839	NP_006830	Q16891	IMMT_HUMAN			12	1605	-			406			Mitochondrial intermembrane (Potential).		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.1217C>G	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.843821|4.843821	0.91197|0.91197	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.34275|.	1.37;1.37;1.37;1.37;1.37|.	5.72|5.72	4.84|4.84	0.62591|0.62591	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72542|0.72542	0.3473|0.3473	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	P;P;D;P;P;P|.	0.54207|.	0.867;0.739;0.965;0.839;0.694;0.867|.	P;P;P;P;P;P|.	0.58266|.	0.836;0.734;0.819;0.723;0.615;0.722|.	T|T	0.71836|0.71836	-0.4472|-0.4472	10|5	0.31617|.	T|.	0.26|.	-16.7174|-16.7174	14.1942|14.1942	0.65659|0.65659	0.0715:0.0:0.9285:0.0|0.0715:0.0:0.9285:0.0	.|.	359;394;308;395;374;406|.	B9A067;B4DKR1;B4DS66;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;.;IMMT_HUMAN|.	G|W	307;395;406;405;359;395;374;307|260	ENSP00000254636:A307G;ENSP00000396899:A395G;ENSP00000387262:A406G;ENSP00000407788:A405G;ENSP00000387227:A359G|.	ENSP00000254636:A307G|.	A|C	-|-	2|3	0|2	IMMT|IMMT	86232115|86232115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.829000|6.829000	0.75314|0.75314	2.716000|2.716000	0.92895|0.92895	0.650000|0.650000	0.86243|0.86243	GCT|TGC		PASS	0.428	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		6	105	6	105	---	---	---	---
GPR17	2840	broad.mit.edu	37	2	128408686	128408686	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:128408686G>A	ENST00000272644.3	+	3	535	c.461G>A	c.(460-462)aGc>aAc	p.S154N	LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.S154N|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000393018.3_Missense_Mutation_p.S154N|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	154					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.S154N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		ACCTGCATCAGCGCCGACCGT	0.602																																						uc010yzn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)AGC>AAC		G protein-coupled receptor 17 isoform a							124.0	103.0	110.0					2																	128408686		2203	4300	6503	SO:0001583	missense	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408686G>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.461G>A	2.37:g.128408686G>A	ENSP00000272644:p.Ser154Asn					LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.S154N|GPR17_uc010yzo.1_Missense_Mutation_p.S126N|GPR17_uc002tpd.2_Missense_Mutation_p.S126N	p.S154N	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1072	+	Colorectal(110;0.1)	Ovarian(717;0.15)	154			Helical; Name=3; (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.461G>A	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.272381	0.80580	.	.	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.81330	-1.48;-1.48;-1.48	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.101290	0.64402	D	0.000002	D	0.91496	0.7315	M	0.88241	2.94	0.46609	D	0.999128	D	0.89917	1.0	D	0.72338	0.977	D	0.92850	0.6296	10	0.87932	D	0	.	19.1293	0.93399	0.0:0.0:1.0:0.0	.	154	Q13304	GPR17_HUMAN	N	154	ENSP00000442982:S154N;ENSP00000272644:S154N;ENSP00000376741:S154N	ENSP00000272644:S154N	S	+	2	0	GPR17	128125156	1.000000	0.71417	0.988000	0.46212	0.957000	0.61999	5.730000	0.68546	2.525000	0.85131	0.591000	0.81541	AGC		PASS	0.602	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			50	81	50	81	---	---	---	---
ARHGEF4	50649	broad.mit.edu	37	2	131688620	131688620	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:131688620C>A	ENST00000326016.5	+	3	609	c.90C>A	c.(88-90)ttC>ttA	p.F30L	ARHGEF4_ENST00000428230.2_Missense_Mutation_p.F30L|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.F30L|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.F30L|SCARNA4_ENST00000517020.2_RNA|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.F30L|ARHGEF4_ENST00000409359.1_Missense_Mutation_p.F886L	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	30					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.F30L(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGCCCTGCTTCACCACTGACA	0.612																																						uc002tsa.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(88-90)TTC>TTA		Rho guanine nucleotide exchange factor 4 isoform							64.0	57.0	60.0					2																	131688620		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131688620C>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.90C>A	2.37:g.131688620C>A	ENSP00000316845:p.Phe30Leu					ARHGEF4_uc010fmw.1_Missense_Mutation_p.F676L|ARHGEF4_uc002tsb.1_Missense_Mutation_p.F30L|ARHGEF4_uc010fmx.1_Missense_Mutation_p.F30L|ARHGEF4_uc002trz.1_Missense_Mutation_p.F676L	p.F30L	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	3	610	+		Prostate(154;0.055)	30					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.90C>A	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529419	0.27387	.	.	ENSG00000136002	ENST00000409359;ENST00000326016;ENST00000392953;ENST00000438985;ENST00000428230;ENST00000525839;ENST00000409303	T;T;T;T;T;T;T	0.70516	0.96;-0.2;-0.32;0.98;0.96;-0.32;-0.49	4.51	1.25	0.21368	.	.	.	.	.	T	0.45657	0.1353	N	0.19112	0.55	0.09310	N	1	B;P;B;B	0.41450	0.039;0.75;0.065;0.039	B;B;B;B	0.33960	0.015;0.173;0.056;0.015	T	0.26258	-1.0108	9	0.27785	T	0.31	.	3.8747	0.09051	0.0:0.5334:0.1982:0.2684	.	30;886;30;30	E9PEM0;E7EV07;Q9NR80-4;Q9NR80	.;.;.;ARHG4_HUMAN	L	886;30;30;210;30;30;30	ENSP00000386794:F886L;ENSP00000316845:F30L;ENSP00000376680:F30L;ENSP00000389661:F210L;ENSP00000398455:F30L;ENSP00000432267:F30L;ENSP00000387285:F30L	ENSP00000316845:F30L	F	+	3	2	ARHGEF4	131405090	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.299000	0.19138	-0.101000	0.12219	0.467000	0.42956	TTC		PASS	0.612	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			35	54	35	54	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138163301	138163301	+	Silent	SNP	C	C	G	rs530835436		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:138163301C>G	ENST00000409968.1	+	13	2797	c.2619C>G	c.(2617-2619)acC>acG	p.T873T	THSD7B_ENST00000413152.2_Silent_p.T842T|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.T873T			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	873	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.T873T(1)|p.T842T(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAGACTGCACCTTCACTGCTT	0.498																																						uc002tva.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2524-2526)ACC>ACG		thrombospondin, type I, domain containing 7B							80.0	83.0	82.0					2																	138163301		2037	4176	6213	SO:0001819	synonymous_variant	80731							g.chr2:138163301C>G			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2619C>G	2.37:g.138163301C>G						THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.T732T	p.T842T	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	12	2526	+									Silent	SNP	ENST00000409968.1	37	c.2526C>G																																																																																					PASS	0.498	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		10	31	10	31	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165994574	165994574	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:165994574C>T	ENST00000360093.3	-	15	2697	c.2206G>A	c.(2206-2208)Gtg>Atg	p.V736M	SCN3A_ENST00000409101.3_Missense_Mutation_p.V687M|SCN3A_ENST00000283254.7_Missense_Mutation_p.V736M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	736					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V736M(1)|p.V687M(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCAAGAACACATTGGCAAAT	0.363																																						uc002ucx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2206-2208)GTG>ATG		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						108.0	105.0	106.0					2																	165994574		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165994574C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2206G>A	2.37:g.165994574C>T	ENSP00000353206:p.Val736Met					SCN3A_uc002ucy.2_Missense_Mutation_p.V687M|SCN3A_uc002ucz.2_Missense_Mutation_p.V687M|SCN3A_uc002uda.1_Missense_Mutation_p.V556M|SCN3A_uc002udb.1_Missense_Mutation_p.V556M	p.V736M	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			15	2698	-			736					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2206G>A		.	.	.	.	.	.	.	.	.	.	C	11.07	1.529734	0.27387	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96011	-3.88;-3.88;-3.85;-3.73	5.76	-4.89	0.03103	.	0.633946	0.14724	N	0.302178	D	0.85287	0.5662	N	0.02721	-0.515	0.80722	D	1	B;B;B;B;B	0.09022	0.001;0.001;0.0;0.0;0.002	B;B;B;B;B	0.08055	0.003;0.001;0.001;0.001;0.003	T	0.60151	-0.7319	10	0.28530	T	0.3	.	15.6743	0.77303	0.0:0.1953:0.0:0.8047	.	736;687;687;687;736	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	M	736;736;687;687	ENSP00000353206:V736M;ENSP00000283254:V736M;ENSP00000386726:V687M;ENSP00000403348:V687M	ENSP00000283254:V736M	V	-	1	0	SCN3A	165702820	0.999000	0.42202	0.807000	0.32361	0.996000	0.88848	1.055000	0.30467	-0.863000	0.04084	-0.143000	0.13931	GTG		PASS	0.363	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		37	72	37	72	---	---	---	---
CHRNA1	1134	broad.mit.edu	37	2	175624353	175624353	+	Missense_Mutation	SNP	C	C	A	rs202221890		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:175624353C>A	ENST00000261007.5	-	2	118	c.52G>T	c.(52-54)Gtc>Ttc	p.V18F	CHRNA1_ENST00000409219.1_Missense_Mutation_p.V18F|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V18F|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V18F|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V18F	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	18					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.V18F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GAGCCCAGGACGAGGCCAGCT	0.557																																						uc002ujd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(52-54)GTC>TTC		nicotinic cholinergic receptor alpha 1 isoform a							52.0	51.0	51.0					2																	175624353		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175624353C>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.52G>T	2.37:g.175624353C>A	ENSP00000261007:p.Val18Phe					uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.V18F|CHRNA1_uc002ujf.3_Missense_Mutation_p.V18F	p.V18F	NM_001039523	NP_001034612	P02708	ACHA_HUMAN			2	130	-			18					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.52G>T	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480090	0.63849	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;D;D;T	0.83591	-1.22;-1.33;-1.74;-1.5;-0.85	5.92	3.12	0.35913	.	0.188846	0.45606	D	0.000347	T	0.77054	0.4074	L	0.53617	1.68	0.39851	D	0.973241	P;B;P	0.42203	0.773;0.435;0.664	B;B;B	0.37480	0.251;0.09;0.197	T	0.79505	-0.1776	10	0.51188	T	0.08	.	11.4068	0.49902	0.0:0.8099:0.0:0.1901	.	18;18;18	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	F	18	ENSP00000261008:V18F;ENSP00000261007:V18F;ENSP00000387026:V18F;ENSP00000386611:V18F;ENSP00000386684:V18F	ENSP00000261007:V18F	V	-	1	0	CHRNA1	175332599	0.885000	0.30320	0.996000	0.52242	0.981000	0.71138	1.785000	0.38684	1.503000	0.48686	0.467000	0.42956	GTC		PASS	0.557	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			68	75	68	75	---	---	---	---
HOXD3	3232	broad.mit.edu	37	2	177036984	177036984	+	Silent	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:177036984C>G	ENST00000468418.3	+	4	3371	c.1281C>G	c.(1279-1281)ccC>ccG	p.P427P	HOXD3_ENST00000249440.3_Silent_p.P427P|HOXD3_ENST00000410016.1_Silent_p.P427P|HOXD-AS1_ENST00000416928.2_RNA			P31249	HXD3_HUMAN	homeobox D3	427					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P427P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CGGAGGCTCCCAAACTGACGC	0.632																																						uc002ukt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1279-1281)CCC>CCG		homeobox D3							30.0	36.0	34.0					2																	177036984		2203	4300	6503	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036984C>G		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.1281C>G	2.37:g.177036984C>G							p.P427P	NM_006898	NP_008829	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	1457	+			427					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.1281C>G	CCDS2270.1																																																																																				PASS	0.632	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			9	20	9	20	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179604027	179604027	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:179604027G>T	ENST00000591111.1	-	46	13206	c.12982C>A	c.(12982-12984)Cct>Act	p.P4328T	TTN_ENST00000342175.6_Missense_Mutation_p.P4474T|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4407T|TTN_ENST00000460472.2_Missense_Mutation_p.P4282T|TTN_ENST00000589042.1_Missense_Mutation_p.P4645T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12086	Ig-like 23.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P4407T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATCTGAAGGCACCAGTTTA	0.368																																						uc010zfh.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13420-13422)CCT>ACT		titin isoform novex-2							135.0	120.0	125.0					2																	179604027		1897	4120	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604027G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12982C>A	2.37:g.179604027G>T	ENSP00000465570:p.Pro4328Thr					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.P4407T|TTN_uc010zfj.1_Missense_Mutation_p.P4282T|TTN_uc002umz.1_Intron	p.P4474T	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13644	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13420C>A		.	.	.	.	.	.	.	.	.	.	G	9.053	0.992556	0.18966	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.65549	-0.16;-0.16;-0.16	5.93	-3.72	0.04411	.	.	.	.	.	T	0.39860	0.1094	N	0.20766	0.605	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.28964	-1.0027	9	0.87932	D	0	.	4.4096	0.11427	0.6118:0.1304:0.1397:0.1181	.	4282;4407;4474	D3DPF9;E7EQE6;E7ET18	.;.;.	T	4282;4474;4407;4282	ENSP00000434586:P4282T;ENSP00000340554:P4474T;ENSP00000352154:P4407T	ENSP00000340554:P4474T	P	-	1	0	TTN	179312272	0.001000	0.12720	0.538000	0.28064	0.959000	0.62525	-0.159000	0.10056	-0.597000	0.05813	-1.114000	0.02060	CCT		PASS	0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	55	38	55	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179621084	179621084	+	Intron	SNP	T	T	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:179621084T>A	ENST00000591111.1	-	44	10528				TTN_ENST00000342175.6_Nonsense_Mutation_p.K3536*|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.K3707*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGATTGTTTCAGTCTCTCG	0.403																																						uc010zfh.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10606-10608)AAA>TAA		titin isoform novex-2							125.0	118.0	120.0					2																	179621084		1877	4122	5999	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621084T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2626A>T	2.37:g.179621084T>A						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	p.K3536*	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10830	-			3550					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.10606A>T		.	.	.	.	.	.	.	.	.	.	T	52	20.047173	0.99926	.	.	ENSG00000155657	ENST00000342175	.	.	.	6.16	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.27883	N	0.939616	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.4025	0.38442	0.0:0.0631:0.1225:0.8143	.	.	.	.	X	3536	.	ENSP00000340554:K3536X	K	-	1	0	TTN	179329329	0.947000	0.32204	0.001000	0.08648	0.690000	0.40134	4.502000	0.60400	0.512000	0.28257	0.528000	0.53228	AAA		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		56	105	56	105	---	---	---	---
MYL1	4632	broad.mit.edu	37	2	211159113	211159113	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:211159113G>T	ENST00000352451.3	-	4	481	c.334C>A	c.(334-336)Caa>Aaa	p.Q112K	MYL1_ENST00000341685.4_Missense_Mutation_p.Q68K|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	112					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.Q112K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGCAGAAATTGTTCAAACTCA	0.398																																						uc002vec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(334-336)CAA>AAA		fast skeletal myosin alkali light chain 1							146.0	132.0	136.0					2																	211159113		2203	4300	6503	SO:0001583	missense	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211159113G>T		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.334C>A	2.37:g.211159113G>T	ENSP00000307280:p.Gln112Lys					MYL1_uc002veb.2_Missense_Mutation_p.Q68K	p.Q112K	NM_079420	NP_524144	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	4	463	-			112					B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	c.334C>A	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801694	0.31869	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	T;T	0.79247	-1.25;-1.25	5.77	5.77	0.91146	EF-hand-like domain (1);	0.334696	0.36740	N	0.002438	T	0.77412	0.4126	M	0.67397	2.05	0.32908	D	0.514174	B;B	0.28552	0.215;0.125	B;B	0.32624	0.101;0.149	T	0.78942	-0.2005	10	0.29301	T	0.29	.	15.8319	0.78760	0.0:0.173:0.827:0.0	.	112;68	P05976;P05976-2	MYL1_HUMAN;.	K	68;112	ENSP00000343321:Q68K;ENSP00000307280:Q112K	ENSP00000343321:Q68K	Q	-	1	0	MYL1	210867358	0.979000	0.34478	1.000000	0.80357	0.998000	0.95712	2.732000	0.47352	2.752000	0.94435	0.650000	0.86243	CAA		PASS	0.398	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		48	65	48	65	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211447371	211447371	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:211447371G>T	ENST00000233072.5	+	6	755	c.559G>T	c.(559-561)Ggt>Tgt	p.G187C	CPS1_ENST00000430249.2_Missense_Mutation_p.G193C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	187	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.G193C(1)|p.G187C(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGAATTTGAAGGTCAGCCTGT	0.348																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(559-561)GGT>TGT		carbamoyl-phosphate synthetase 1 isoform b							145.0	145.0	145.0					2																	211447371		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211447371G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.559G>T	2.37:g.211447371G>T	ENSP00000233072:p.Gly187Cys					CPS1_uc010fur.2_Missense_Mutation_p.G193C	p.G187C	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	6	691	+			187			Anthranilate phosphoribosyltransferase homolog.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.559G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625785	0.87560	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.94280	-3.39;-3.39	5.43	5.43	0.79202	Carbamoyl-phosphate synthase, small subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	D	0.97103	0.9799	10	0.72032	D	0.01	5.4611	19.2357	0.93858	0.0:0.0:1.0:0.0	.	197;187	Q59HF8;P31327	.;CPSM_HUMAN	C	193;195;187;187	ENSP00000402608:G193C;ENSP00000233072:G187C	ENSP00000233072:G187C	G	+	1	0	CPS1	211155616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.401000	0.97294	2.554000	0.86153	0.655000	0.94253	GGT		PASS	0.348	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			56	142	56	142	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216257885	216257885	+	Intron	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:216257885C>T	ENST00000359671.1	-	25	4062				FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000356005.4_Intron|FN1_ENST00000354785.4_Missense_Mutation_p.D1280N|FN1_ENST00000323926.6_Missense_Mutation_p.D1280N|FN1_ENST00000432072.2_Missense_Mutation_p.D1280N|FN1_ENST00000357867.4_Intron|FN1_ENST00000336916.4_Intron|FN1_ENST00000346544.3_Intron			P02751	FINC_HUMAN	fibronectin 1						acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.D1280N(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATGCTTGAATCGGTTATATCA	0.468																																						uc002vfa.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(3838-3840)GAT>AAT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						80.0	79.0	79.0					2																	216257885		1868	4096	5964	SO:0001627	intron_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216257885C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3797-1348G>A	2.37:g.216257885C>T						FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Missense_Mutation_p.D1280N|FN1_uc002vfe.2_Intron|FN1_uc002vff.2_Intron|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.D1280N|FN1_uc002vfj.2_Missense_Mutation_p.D1280N|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'UTR	p.D1280N	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	25	4104	-		Renal(323;0.127)	1280			Fibronectin type-III 8.|Cell-attachment.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.3838G>A		.	.	.	.	.	.	.	.	.	.	C	26.0	4.691151	0.88735	.	.	ENSG00000115414	ENST00000323926;ENST00000354785;ENST00000265313;ENST00000432072	T;T;T	0.57107	0.42;0.42;0.42	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	T	0.71367	0.3331	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.997;0.997	D;D;D;D	0.91635	0.974;0.999;0.992;0.97	T	0.65438	-0.6168	10	0.33141	T	0.24	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1280;1280;1280;1280	P02751-13;P02751-7;E7ERA1;P02751-15	.;.;.;.	N	1280	ENSP00000323534:D1280N;ENSP00000346839:D1280N;ENSP00000399538:D1280N	ENSP00000265313:D1280N	D	-	1	0	FN1	215966130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.384000	0.79751	2.861000	0.98227	0.655000	0.94253	GAT		PASS	0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		30	79	30	79	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228881925	228881925	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:228881925G>C	ENST00000392056.3	-	7	3691	c.3645C>G	c.(3643-3645)agC>agG	p.S1215R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1215R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1215						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S1215R(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AATCCTGGCTGCTCCGTCTGG	0.577																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(3643-3645)AGC>AGG		sphingosine kinase type 1-interacting protein							85.0	85.0	85.0					2																	228881925		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881925G>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3645C>G	2.37:g.228881925G>C	ENSP00000375909:p.Ser1215Arg					SPHKAP_uc002vpp.2_Missense_Mutation_p.S1215R|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1215R	p.S1215R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3692	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1215					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3645C>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143610	0.37825	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42513	0.97;0.97	5.87	4.98	0.66077	.	0.303001	0.44688	N	0.000435	T	0.52661	0.1748	L	0.56769	1.78	0.28267	N	0.924578	P;D;D	0.63880	0.954;0.981;0.993	P;P;P	0.56916	0.556;0.77;0.809	T	0.53344	-0.8452	10	0.66056	D	0.02	.	10.6819	0.45819	0.1621:0.0:0.8379:0.0	.	246;1215;1215	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	R	1215	ENSP00000375909:S1215R;ENSP00000339886:S1215R	ENSP00000339886:S1215R	S	-	3	2	SPHKAP	228590169	1.000000	0.71417	0.979000	0.43373	0.333000	0.28666	2.822000	0.48073	1.468000	0.48064	0.655000	0.94253	AGC		PASS	0.577	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		61	74	61	74	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230643658	230643658	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:230643658G>C	ENST00000283943.5	-	34	5096	c.4918C>G	c.(4918-4920)Cag>Gag	p.Q1640E	TRIP12_ENST00000389045.3_Missense_Mutation_p.Q1370E|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1688E	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1640					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.Q1640E(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGTAGTTCCTGAGATACAAGC	0.393																																						uc002vpw.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(4918-4920)CAG>GAG		thyroid hormone receptor interactor 12							171.0	171.0	171.0					2																	230643658		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230643658G>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4918C>G	2.37:g.230643658G>C	ENSP00000283943:p.Gln1640Glu					TRIP12_uc002vpx.1_Missense_Mutation_p.Q1688E|TRIP12_uc002vpy.1_Missense_Mutation_p.Q1370E	p.Q1640E	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	34	5027	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1640					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.4918C>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969086	0.92855	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.56444	0.46;0.46;0.46	6.03	6.03	0.97812	HECT (4);	0.000000	0.85682	D	0.000000	T	0.58963	0.2159	L	0.28192	0.835	0.80722	D	1	B;P;B	0.49185	0.079;0.92;0.079	B;P;B	0.55871	0.114;0.786;0.054	T	0.58457	-0.7633	10	0.56958	D	0.05	.	20.1617	0.98138	0.0:0.0:1.0:0.0	.	1370;1688;1640	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	E	1640;1370;1688	ENSP00000283943:Q1640E;ENSP00000373697:Q1370E;ENSP00000373696:Q1688E	ENSP00000283943:Q1640E	Q	-	1	0	TRIP12	230351902	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.368000	0.97152	2.854000	0.98071	0.655000	0.94253	CAG		PASS	0.393	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		17	313	17	313	---	---	---	---
AQP12A	375318	broad.mit.edu	37	2	241631533	241631534	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:241631533_241631534GG>TT	ENST00000337801.4	+	2	235_236	c.166_167GG>TT	c.(166-168)GGg>TTg	p.G56L	AC011298.2_ENST00000407635.2_lincRNA|AQP12A_ENST00000429564.1_Missense_Mutation_p.G68L	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	56						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.G56V(1)|p.G56W(1)|p.G56L(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TGGGGACTTTGGGCCTGACCTG	0.693																																						uc002vzu.2																			3	Substitution - Missense(3)		lung(3)		0						c.(166-168)GGG>TGG|c.(166-168)GGG>GTG		aquaporin 12A																																				SO:0001583	missense	375318					integral to membrane	transporter activity	g.chr2:241631533G>T|g.chr2:241631534G>T	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	Exception_encountered	2.37:g.241631533_241631534delinsTT	ENSP00000337144:p.Gly56Leu					AQP12A_uc002vzv.2_Intron	p.G56W|p.G56V	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	2	235|236	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	56			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000337801.4	37	c.166G>T|c.167G>T																																																																																					PASS	0.693	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		22	9	22	9	---	---	---	---
ATG7	10533	broad.mit.edu	37	3	11468349	11468349	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:11468349A>T	ENST00000354449.3	+	18	2053	c.2028A>T	c.(2026-2028)ttA>ttT	p.L676F	ATG7_ENST00000446450.2_Intron|ATG7_ENST00000354956.5_Missense_Mutation_p.L649F	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	676					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.L676F(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						ATTCCTTCTTAGAAGACTTGA	0.358																																						uc003bwc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2026-2028)TTA>TTT		APG7 autophagy 7-like isoform a							109.0	101.0	104.0					3																	11468349		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11468349A>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.2028A>T	3.37:g.11468349A>T	ENSP00000346437:p.Leu676Phe					ATG7_uc003bwd.2_Missense_Mutation_p.L649F|ATG7_uc011aum.1_Intron	p.L676F	NM_006395	NP_006386	O95352	ATG7_HUMAN			18	2145	+			676					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.2028A>T	CCDS2605.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	14.65|14.65|14.65	2.598581|2.598581|2.598581	0.46318|0.46318|0.46318	.|.|.	.|.|.	ENSG00000197548|ENSG00000197548|ENSG00000197548	ENST00000354956;ENST00000354449;ENST00000414717|ENST00000446110|ENST00000427759	T;T|.|.	0.61510|.|.	0.22;0.1|.|.	5.97|5.97|5.97	-1.81|-1.81|-1.81	0.07882|0.07882|0.07882	.|.|.	0.214735|.|.	0.32769|.|.	N|.|.	0.005674|.|.	D|.|.	0.83418|.|.	0.5250|.|.	M|M|M	0.93197|0.93197|0.93197	3.39|3.39|3.39	0.47949|0.47949|0.47949	D|D|D	0.999559|0.999559|0.999559	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.77557|.|.	0.99;0.976|.|.	D|.|.	0.84934|.|.	0.0861|.|.	10|.|.	0.87932|.|.	D|.|.	0|.|.	-9.5261|-9.5261|-9.5261	15.9843|15.9843|15.9843	0.80138|0.80138|0.80138	0.4712:0.0:0.5288:0.0|0.4712:0.0:0.5288:0.0|0.4712:0.0:0.5288:0.0	.|.|.	649;676|.|.	O95352-2;O95352|.|.	.;ATG7_HUMAN|.|.	F|X|L	649;676;77|77|77	ENSP00000347042:L649F;ENSP00000346437:L676F|.|.	ENSP00000346437:L676F|.|.	L|R|X	+|+|+	3|1|2	2|2|0	ATG7|ATG7|ATG7	11443349|11443349|11443349	0.975000|0.975000|0.975000	0.34042|0.34042|0.34042	0.920000|0.920000|0.920000	0.36463|0.36463|0.36463	0.405000|0.405000|0.405000	0.30901|0.30901|0.30901	0.179000|0.179000|0.179000	0.16840|0.16840|0.16840	-0.939000|-0.939000|-0.939000	0.03709|0.03709|0.03709	-2.125000|-2.125000|-2.125000	0.00346|0.00346|0.00346	TTA|AGA|TAG		PASS	0.358	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		35	30	35	30	---	---	---	---
SLC22A14	9389	broad.mit.edu	37	3	38357879	38357879	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:38357879A>G	ENST00000273173.4	+	9	1688	c.1597A>G	c.(1597-1599)Atc>Gtc	p.I533V	SLC22A14_ENST00000448498.1_Missense_Mutation_p.I533V	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	533					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)	p.I533V(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCTGACAATCATCAGCCAGAC	0.617																																						uc010hhc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1597-1599)ATC>GTC		organic cation transporter like 4							128.0	97.0	108.0					3																	38357879		2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38357879A>G	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1597A>G	3.37:g.38357879A>G	ENSP00000273173:p.Ile533Val					SLC22A14_uc003cib.2_Missense_Mutation_p.I533V|SLC22A14_uc011ayo.1_RNA	p.I533V	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	10	1639	+			533			Helical; (Potential).		A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.1597A>G	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	A	4.932	0.173237	0.09391	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.57907	0.37;0.37	4.2	-3.3	0.05003	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	3.157760	0.01359	N	0.012167	T	0.27454	0.0674	N	0.10972	0.075	0.09310	N	1	B	0.16166	0.016	B	0.16289	0.015	T	0.04400	-1.0954	10	0.21540	T	0.41	.	1.0144	0.01504	0.3564:0.1587:0.3191:0.1658	.	533	Q9Y267	S22AE_HUMAN	V	533;518;533	ENSP00000396283:I533V;ENSP00000273173:I533V	ENSP00000273173:I533V	I	+	1	0	SLC22A14	38332883	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.373000	0.07494	-0.570000	0.06022	-0.290000	0.09829	ATC		PASS	0.617	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		27	11	27	11	---	---	---	---
PLXNB1	5364	broad.mit.edu	37	3	48450817	48450817	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:48450817C>G	ENST00000358536.4	-	34	6276	c.6007G>C	c.(6007-6009)Gat>Cat	p.D2003H	PLXNB1_ENST00000358459.4_Missense_Mutation_p.D1820H|PLXNB1_ENST00000296440.6_Missense_Mutation_p.D2003H|PLXNB1_ENST00000448774.2_Missense_Mutation_p.D614H|PLXNB1_ENST00000456774.1_Missense_Mutation_p.D1820H	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2003					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.D2003H(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCATGTTATCAGATGTTTGC	0.552																																						uc003csw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(6007-6009)GAT>CAT		plexin B1 precursor							96.0	105.0	102.0					3																	48450817		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48450817C>G	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.6007G>C	3.37:g.48450817C>G	ENSP00000351338:p.Asp2003His					PLXNB1_uc003cst.2_Missense_Mutation_p.D453H|PLXNB1_uc003csu.2_Missense_Mutation_p.D1820H|PLXNB1_uc003csx.2_Missense_Mutation_p.D2003H	p.D2003H	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	34	6277	-			2003			Cytoplasmic (Potential).		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.6007G>C	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.672736	0.88445	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	4.56	4.56	0.56223	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.36962	-0.9726	10	0.46703	T	0.11	.	16.3099	0.82865	0.0:1.0:0.0:0.0	.	2003;1820	O43157;O43157-2	PLXB1_HUMAN;.	H	2003;1820;2003;614;1820	ENSP00000296440:D2003H;ENSP00000351242:D1820H;ENSP00000351338:D2003H;ENSP00000389320:D614H;ENSP00000414199:D1820H	ENSP00000296440:D2003H	D	-	1	0	PLXNB1	48425821	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.744000	0.85034	2.077000	0.62373	0.457000	0.33378	GAT		PASS	0.552	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		79	33	79	33	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97467485	97467485	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:97467485C>G	ENST00000389672.5	+	18	3371	c.3333C>G	c.(3331-3333)agC>agG	p.S1111R		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	1017						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.S1017R(1)|p.S1111R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAATAGTCAGCAGCATACAGA	0.428																																						uc010how.1																			2	Substitution - Missense(2)		lung(2)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(3331-3333)AGC>AGG		EPH receptor A6 isoform a							112.0	105.0	107.0					3																	97467485		1959	4159	6118	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97467485C>G	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.3333C>G	3.37:g.97467485C>G	ENSP00000374323:p.Ser1111Arg						p.S1111R	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			18	3376	+			1016			SAM.|Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.3333C>G	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683362	0.88542	.	.	ENSG00000080224	ENST00000389672	T	0.50001	0.76	5.68	5.68	0.88126	.	.	.	.	.	T	0.62865	0.2463	L	0.55743	1.74	0.80722	D	1	.	.	.	.	.	.	T	0.63296	-0.6669	7	0.72032	D	0.01	.	19.7884	0.96447	0.0:1.0:0.0:0.0	.	.	.	.	R	1111	ENSP00000374323:S1111R	ENSP00000374323:S1111R	S	+	3	2	EPHA6	98950175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.666000	0.90696	0.650000	0.86243	AGC		PASS	0.428	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		14	47	14	47	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100472662	100472662	+	Splice_Site	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:100472662C>A	ENST00000284322.5	-	32	2937		c.e32+1		ABI3BP_ENST00000383691.4_Splice_Site|ABI3BP_ENST00000471714.1_Splice_Site	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.?(3)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGGTACTTACCAGAAACTGG	0.423																																						uc003dun.2																			3	Unknown(3)		lung(3)	ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.e32+1		ABI gene family, member 3 (NESH) binding protein							62.0	60.0	61.0					3																	100472662		1907	4116	6023	SO:0001630	splice_region_variant	25890					extracellular space		g.chr3:100472662C>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2827+1G>T	3.37:g.100472662C>A						ABI3BP_uc003duj.2_Splice_Site_p.A523_splice|ABI3BP_uc003duk.2_Splice_Site_p.A652_splice|ABI3BP_uc003dul.2_Splice_Site_p.A773_splice|ABI3BP_uc011bhd.1_Splice_Site_p.A897_splice|ABI3BP_uc003dum.2_Splice_Site_p.A354_splice	p.A943_splice	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			32	2912	-								B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Splice_Site	SNP	ENST00000284322.5	37	c.2827_splice	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666414	0.88251	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000495591;ENST00000383691	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0079	0.97439	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABI3BP	101955352	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.255000	0.72466	2.722000	0.93159	0.655000	0.94253	.		PASS	0.423	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		Intron	14	32	14	32	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100962934	100962934	+	Missense_Mutation	SNP	C	C	A	rs201394380	byFrequency	TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:100962934C>A	ENST00000193391.7	-	13	2428	c.2241G>T	c.(2239-2241)atG>atT	p.M747I		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	747					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.M747I(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TAATTTGTTCCATATCCTCCC	0.403																																						uc003duq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2239-2241)ATG>ATT		interphotoreceptor matrix proteoglycan 2							119.0	114.0	116.0					3																	100962934		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100962934C>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2241G>T	3.37:g.100962934C>A	ENSP00000193391:p.Met747Ile					IMPG2_uc011bhe.1_Missense_Mutation_p.M610I	p.M747I	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			13	2444	-			747			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.2241G>T	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449117	0.01080	.	.	ENSG00000081148	ENST00000193391	T	0.19250	2.16	5.88	-0.452	0.12205	.	0.600804	0.18165	N	0.149652	T	0.12860	0.0312	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.30851	-0.9964	10	0.20519	T	0.43	0.0	10.5528	0.45099	0.0:0.5493:0.0:0.4507	.	747;747	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	I	747	ENSP00000193391:M747I	ENSP00000193391:M747I	M	-	3	0	IMPG2	102445624	0.000000	0.05858	0.040000	0.18447	0.084000	0.17831	-0.437000	0.06914	-0.004000	0.14419	0.655000	0.94253	ATG		PASS	0.403	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			14	295	14	295	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108224623	108224623	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:108224623C>A	ENST00000273353.3	-	3	258	c.202G>T	c.(202-204)Gta>Tta	p.V68L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	68						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V68L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCCCTTTTACCTCAGCCTCG	0.358																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(202-204)GTA>TTA		myosin, heavy polypeptide 15							210.0	195.0	199.0					3																	108224623		1873	4133	6006	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108224623C>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.202G>T	3.37:g.108224623C>A	ENSP00000273353:p.Val68Leu						p.V68L	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			3	259	-			68			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.202G>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	4.871	0.161924	0.09287	.	.	ENSG00000144821	ENST00000273353	D	0.82344	-1.6	3.32	-3.79	0.04320	Myosin, N-terminal, SH3-like (1);	.	.	.	.	T	0.76919	0.4055	L	0.52905	1.665	0.24686	N	0.993337	B	0.17852	0.024	B	0.28553	0.091	T	0.64478	-0.6398	9	0.46703	T	0.11	.	7.9209	0.29846	0.1264:0.157:0.0:0.7166	.	68	Q9Y2K3	MYH15_HUMAN	L	68	ENSP00000273353:V68L	ENSP00000273353:V68L	V	-	1	0	MYH15	109707313	0.002000	0.14202	0.367000	0.25926	0.076000	0.17211	-0.352000	0.07701	-0.969000	0.03573	0.491000	0.48974	GTA		PASS	0.358	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		87	287	87	287	---	---	---	---
HSPBAP1	79663	broad.mit.edu	37	3	122487665	122487665	+	Silent	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:122487665G>A	ENST00000306103.2	-	3	458	c.315C>T	c.(313-315)aaC>aaT	p.N105N	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_Silent_p.N105N	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	105	Interaction with HSPB1. {ECO:0000250}.					cytoplasm (GO:0005737)		p.N105N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		ACTGGTCACAGTTCCAGGTCA	0.363																																						uc003efu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(313-315)AAC>AAT		Hspb associated protein 1							78.0	75.0	76.0					3																	122487665		2203	4300	6503	SO:0001819	synonymous_variant	79663					cytoplasm		g.chr3:122487665G>A	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.315C>T	3.37:g.122487665G>A						HSPBAP1_uc003efv.1_Silent_p.N105N	p.N105N	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	3	438	-			105			Interaction with HSPB1 (By similarity).		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	c.315C>T	CCDS3017.1																																																																																				PASS	0.363	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		3	115	3	115	---	---	---	---
OSBPL11	114885	broad.mit.edu	37	3	125313525	125313525	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:125313525G>T	ENST00000296220.5	-	1	409	c.120C>A	c.(118-120)agC>agA	p.S40R		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	40					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.S40R(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						tgctgctgctgctactgattc	0.562																																						uc003eic.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|kidney(1)	5						c.(118-120)AGC>AGA		oxysterol binding protein-like 11							75.0	67.0	70.0					3																	125313525		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125313525G>T	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.120C>A	3.37:g.125313525G>T	ENSP00000296220:p.Ser40Arg						p.S40R	NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN			1	857	-			40					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.120C>A	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	7.005	0.555723	0.13436	.	.	ENSG00000144909	ENST00000296220	T	0.20069	2.1	4.64	2.77	0.32553	.	0.359083	0.26696	N	0.022966	T	0.09158	0.0226	N	0.08118	0	0.36564	D	0.872595	B	0.26258	0.145	B	0.28139	0.086	T	0.21827	-1.0234	10	0.26408	T	0.33	-11.966	5.0142	0.14328	0.1106:0.0:0.6653:0.2242	.	40	Q9BXB4	OSB11_HUMAN	R	40	ENSP00000296220:S40R	ENSP00000296220:S40R	S	-	3	2	OSBPL11	126796215	0.999000	0.42202	0.580000	0.28601	0.027000	0.11550	1.472000	0.35376	0.619000	0.30197	0.484000	0.47621	AGC		PASS	0.562	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		63	32	63	32	---	---	---	---
GATA2	2624	broad.mit.edu	37	3	128205181	128205181	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:128205181G>C	ENST00000341105.2	-	3	591	c.260C>G	c.(259-261)cCa>cGa	p.P87R	RP11-475N22.4_ENST00000468377.1_RNA|RP11-475N22.4_ENST00000464242.1_RNA|GATA2_ENST00000487848.1_Missense_Mutation_p.P87R|RP11-475N22.4_ENST00000473958.1_RNA|GATA2_ENST00000430265.2_Missense_Mutation_p.P87R	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	87					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P87R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CAACAAGTGTGGGCGGCACAT	0.677			Mis		AML(CML blast transformation)																																	uc003ekm.3				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15						c.(259-261)CCA>CGA		GATA binding protein 2 isoform 1							12.0	16.0	14.0					3																	128205181		2191	4272	6463	SO:0001583	missense	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128205181G>C	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.260C>G	3.37:g.128205181G>C	ENSP00000345681:p.Pro87Arg					GATA2_uc003ekn.3_Missense_Mutation_p.P87R|GATA2_uc003eko.2_Missense_Mutation_p.P87R|uc003ekp.2_5'Flank	p.P87R	NM_001145661	NP_001139133	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	4	695	-			87					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	c.260C>G	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264092	0.80358	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848;ENST00000492608	D;D;D	0.98280	-4.84;-4.8;-4.84	4.63	3.68	0.42216	.	0.000000	0.85682	D	0.000000	D	0.98729	0.9573	M	0.86502	2.82	0.80722	D	1	D;D	0.58620	0.96;0.983	P;P	0.61592	0.59;0.891	D	0.99153	1.0859	10	0.87932	D	0	-12.4909	13.7204	0.62723	0.0:0.1557:0.8443:0.0	.	87;87	P23769-2;P23769	.;GATA2_HUMAN	R	87	ENSP00000345681:P87R;ENSP00000400259:P87R;ENSP00000417074:P87R	ENSP00000345681:P87R	P	-	2	0	GATA2	129687871	1.000000	0.71417	0.895000	0.35142	0.927000	0.56198	6.345000	0.72995	2.096000	0.63516	0.297000	0.19635	CCA		PASS	0.677	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		2	6	2	6	---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129238477	129238477	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:129238477G>C	ENST00000348417.2	+	29	3615	c.3538G>C	c.(3538-3540)Gat>Cat	p.D1180H	IFT122_ENST00000507564.1_Missense_Mutation_p.D1173H|IFT122_ENST00000349441.2_Missense_Mutation_p.D1070H|IFT122_ENST00000440957.2_Missense_Mutation_p.D971H|IFT122_ENST00000431818.2_Missense_Mutation_p.D1030H|IFT122_ENST00000296266.3_Missense_Mutation_p.D1231H|IFT122_ENST00000347300.2_Missense_Mutation_p.D1121H|IFT122_ENST00000504021.1_Missense_Mutation_p.D1057H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1180					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.D1231H(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GAGCCGCCGGGATGTCCTCAT	0.642																																						uc003emm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3538-3540)GAT>CAT		WD repeat domain 10 isoform 2							98.0	81.0	87.0					3																	129238477		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129238477G>C	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3538G>C	3.37:g.129238477G>C	ENSP00000324005:p.Asp1180His					IFT122_uc003eml.2_Missense_Mutation_p.D1231H|IFT122_uc003emn.2_Missense_Mutation_p.D1121H|IFT122_uc003emo.2_Missense_Mutation_p.D1070H|IFT122_uc003emp.2_Missense_Mutation_p.D1030H|IFT122_uc010htc.2_Missense_Mutation_p.D1173H|IFT122_uc011bky.1_Missense_Mutation_p.D971H|IFT122_uc003emq.2_Missense_Mutation_p.D1020H|IFT122_uc003emr.2_Missense_Mutation_p.D933H|IFT122_uc011bla.1_Missense_Mutation_p.D954H|IFT122_uc010hte.2_Missense_Mutation_p.D506H|IFT122_uc003ems.2_Missense_Mutation_p.D562H	p.D1180H	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			29	3744	+			1180					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.3538G>C	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503029	0.44558	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.61040	0.79;0.14;0.28;0.33;0.93;0.93;0.78;0.34	5.84	5.84	0.93424	.	0.043376	0.85682	D	0.000000	T	0.66218	0.2767	L	0.36672	1.1	0.80722	D	1	D;D;D;B;B;B;B;B;D;D	0.60575	0.98;0.979;0.988;0.009;0.005;0.009;0.002;0.004;0.966;0.98	P;P;P;B;B;B;B;B;P;P	0.60415	0.874;0.83;0.841;0.041;0.002;0.018;0.004;0.008;0.751;0.874	T	0.60747	-0.7202	10	0.33141	T	0.24	-24.3707	20.1278	0.97990	0.0:0.0:1.0:0.0	.	971;506;1173;568;1057;1022;1070;1121;1180;1231	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	1121;1231;1173;1030;1057;1070;1180;1022;971	ENSP00000323973:D1121H;ENSP00000296266:D1231H;ENSP00000425536:D1173H;ENSP00000410946:D1030H;ENSP00000422179:D1057H;ENSP00000324165:D1070H;ENSP00000324005:D1180H;ENSP00000401569:D971H	ENSP00000296266:D1231H	D	+	1	0	IFT122	130721167	1.000000	0.71417	0.996000	0.52242	0.733000	0.41908	7.803000	0.85983	2.768000	0.95171	0.561000	0.74099	GAT		PASS	0.642	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		17	91	17	91	---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138382872	138382872	+	Splice_Site	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:138382872C>T	ENST00000477593.1	-	20	2746		c.e20-1		PIK3CB_ENST00000544716.1_Splice_Site|PIK3CB_ENST00000289153.2_Splice_Site			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta						activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.?(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CAGGTCATCCCTGAACAAGAG	0.453																																						uc011bmq.1																			1	Unknown(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.e19-1		catalytic phosphatidylinositol 3-kinase beta							69.0	62.0	65.0					3																	138382872		2203	4300	6503	SO:0001630	splice_region_variant	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138382872C>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2673-1G>A	3.37:g.138382872C>T						PIK3CB_uc011bmn.1_Splice_Site_p.G403_splice|PIK3CB_uc011bmo.1_Splice_Site_p.G342_splice|PIK3CB_uc011bmp.1_Splice_Site_p.G478_splice	p.G891_splice	NM_006219	NP_006210	P42338	PK3CB_HUMAN			19	2673	-								D3DNF0|Q24JU2	Splice_Site	SNP	ENST00000477593.1	37	c.2673_splice	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282087	0.80692	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000493568;ENST00000289153	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIK3CB	139865562	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	4.739000	0.62080	2.814000	0.96858	0.655000	0.94253	.		PASS	0.453	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		Intron	4	101	4	101	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	139894792	139894792	+	Splice_Site	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:139894792G>T	ENST00000458420.3	+	2	299		c.e2-1			NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2						homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTATTTTCTAGTCAATAAGCA	0.353										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Unknown(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.e2-1		calsyntenin 2 precursor							79.0	78.0	78.0					3																	139894792		2203	4300	6503	SO:0001630	splice_region_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:139894792G>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.110-1G>T	3.37:g.139894792G>T		HNSCC(16;0.037)				CLSTN2_uc003etm.2_Splice_Site_p.V37_splice	p.V37_splice	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			2	300	+								B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Splice_Site	SNP	ENST00000458420.3	37	c.110_splice	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383158	0.82792	.	.	ENSG00000158258	ENST00000458420	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4714	0.87647	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLSTN2	141377482	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	8.689000	0.91265	2.788000	0.95919	0.650000	0.86243	.		PASS	0.353	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	Intron	44	121	44	121	---	---	---	---
C3orf58	205428	broad.mit.edu	37	3	143691762	143691762	+	Silent	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:143691762C>T	ENST00000315691.3	+	1	1123	c.588C>T	c.(586-588)aaC>aaT	p.N196N	C3orf58_ENST00000493396.1_3'UTR|C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	196					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.N196N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTTCGCAACCTCAAGGACT	0.692																																						uc003evo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(586-588)AAC>AAT		hypothetical protein LOC205428 isoform a							10.0	10.0	10.0					3																	143691762		2177	4243	6420	SO:0001819	synonymous_variant	205428					COPI vesicle coat|extracellular region		g.chr3:143691762C>T	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.588C>T	3.37:g.143691762C>T						C3orf58_uc011bnl.1_5'Flank	p.N196N	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN			1	1123	+			196					B2RCF2|B7Z1W3	Silent	SNP	ENST00000315691.3	37	c.588C>T	CCDS3130.1																																																																																				PASS	0.692	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		6	3	6	3	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154024045	154024045	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:154024045C>A	ENST00000496811.1	-	6	933	c.853G>T	c.(853-855)Ggc>Tgc	p.G285C	DHX36_ENST00000308361.6_Missense_Mutation_p.G285C|DHX36_ENST00000329463.5_Missense_Mutation_p.G285C|DHX36_ENST00000544526.1_Missense_Mutation_p.G285C	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	285	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.G285C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTACCACTGCCACAAGATTCT	0.348																																						uc003ezy.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(853-855)GGC>TGC		DEAH (Asp-Glu-Ala-His) box polypeptide 36							106.0	108.0	107.0					3																	154024045		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154024045C>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.853G>T	3.37:g.154024045C>A	ENSP00000417078:p.Gly285Cys					DHX36_uc010hvq.2_Missense_Mutation_p.G285C|DHX36_uc003ezz.3_Missense_Mutation_p.G285C	p.G285C	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		6	934	-			285			Helicase ATP-binding.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.853G>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439154	0.83885	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	4.79	4.79	0.61399	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	H	0.98178	4.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.974;0.982;0.989	T	0.77943	-0.2398	10	0.87932	D	0	.	18.1809	0.89777	0.0:1.0:0.0:0.0	.	285;285;285	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	C	285;285;285;285;199	ENSP00000417078:G285C;ENSP00000309296:G285C;ENSP00000444247:G285C;ENSP00000330113:G285C;ENSP00000419862:G199C	ENSP00000309296:G285C	G	-	1	0	DHX36	155506739	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.933000	0.75874	2.378000	0.81104	0.460000	0.39030	GGC		PASS	0.348	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		49	162	49	162	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167045879	167045879	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:167045879G>T	ENST00000392766.2	-	11	1053	c.713C>A	c.(712-714)gCa>gAa	p.A238E	ZBBX_ENST00000392767.2_Missense_Mutation_p.A238E|ZBBX_ENST00000455345.2_Missense_Mutation_p.A238E|ZBBX_ENST00000392764.1_Missense_Mutation_p.A209E|ZBBX_ENST00000307529.5_Missense_Mutation_p.A238E|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	238						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.A238E(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTACGTTGTGCTCTTTTCAT	0.338																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(712-714)GCA>GAA		zinc finger, B-box domain containing							204.0	183.0	190.0					3																	167045879		1856	4097	5953	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167045879G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.713C>A	3.37:g.167045879G>T	ENSP00000376519:p.Ala238Glu					ZBBX_uc011bpc.1_Missense_Mutation_p.A238E|ZBBX_uc003feq.2_Missense_Mutation_p.A209E	p.A238E	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			11	1036	-			238					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.713C>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	4.789	0.146718	0.09134	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.10005	3.09;3.09;3.1;3.1;2.92	5.57	-0.0131	0.13985	.	1.768960	0.04524	N	0.385215	T	0.06508	0.0167	N	0.16478	0.41	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.14578	0.011;0.005	T	0.40059	-0.9583	10	0.12103	T	0.63	-0.3197	5.4926	0.16785	0.0808:0.4491:0.3362:0.1339	.	238;238	A8MT70-2;A8MT70	.;ZBBX_HUMAN	E	238;238;238;238;209	ENSP00000376519:A238E;ENSP00000376520:A238E;ENSP00000390232:A238E;ENSP00000305065:A238E;ENSP00000376517:A209E	ENSP00000305065:A238E	A	-	2	0	ZBBX	168528573	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.291000	0.08343	-0.349000	0.08274	-0.312000	0.09012	GCA		PASS	0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		7	306	7	306	---	---	---	---
RTP2	344892	broad.mit.edu	37	3	187416661	187416661	+	Silent	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:187416661C>A	ENST00000358241.1	-	2	731	c.303G>T	c.(301-303)acG>acT	p.T101T		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	101					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.T101T(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCAGCCGCGCCGTGCCGCACT	0.647																																						uc003fro.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(301-303)ACG>ACT		receptor transporting protein 2							24.0	23.0	23.0					3																	187416661		2201	4272	6473	SO:0001819	synonymous_variant	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416661C>A	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.303G>T	3.37:g.187416661C>A							p.T101T	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	732	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		101			Cytoplasmic (Potential).		Q6NVH4	Silent	SNP	ENST00000358241.1	37	c.303G>T	CCDS33911.1																																																																																				PASS	0.647	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		16	33	16	33	---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193039528	193039528	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr3:193039528G>C	ENST00000342358.4	-	16	1974	c.1857C>G	c.(1855-1857)ttC>ttG	p.F619L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	619						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.F619L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGTAGACATGGAAATGATTCT	0.463																																						uc011bsq.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(2)	11						c.(1855-1857)TTC>TTG		ATPase type 13A5							89.0	85.0	86.0					3																	193039528		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193039528G>C	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1857C>G	3.37:g.193039528G>C	ENSP00000341942:p.Phe619Leu						p.F619L	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	16	1857	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		619					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1857C>G	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	0.059	-1.228096	0.01518	.	.	ENSG00000187527	ENST00000342358	T	0.69306	-0.39	5.82	-0.0249	0.13937	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.662303	0.15285	N	0.270442	T	0.32823	0.0842	N	0.03930	-0.32	0.09310	N	0.999991	B	0.02656	0.0	B	0.06405	0.002	T	0.22277	-1.0221	10	0.09590	T	0.72	-0.2087	5.2246	0.15387	0.2854:0.2739:0.4407:0.0	.	619	Q4VNC0	AT135_HUMAN	L	619	ENSP00000341942:F619L	ENSP00000341942:F619L	F	-	3	2	ATP13A5	194522222	0.000000	0.05858	0.012000	0.15200	0.048000	0.14542	-0.454000	0.06770	0.358000	0.24211	0.655000	0.94253	TTC		PASS	0.463	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		4	186	4	186	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22749311	22749311	+	RNA	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr4:22749311G>C	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.V227L(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACTTTTTGCGGTCTGGTTGGA	0.423																																						uc003gqp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)GTC>CTC		cytosolic beta-glucosidase isoform a							161.0	157.0	158.0					4																	22749311		1888	4101	5989			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749311G>C	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749311G>C						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.V228L	p.V227L	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	770	+			227					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.679G>C																																																																																					PASS	0.423	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			9	285	9	285	---	---	---	---
TMEM156	80008	broad.mit.edu	37	4	38972693	38972693	+	Silent	SNP	T	T	C	rs148909241	byFrequency	TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr4:38972693T>C	ENST00000381938.3	-	6	995	c.888A>G	c.(886-888)ctA>ctG	p.L296L		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	296						integral component of membrane (GO:0016021)		p.L296L(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AAGTAACTTATAGTTCTGGAA	0.403													T|||	2	0.000399361	0.0	0.0014	5008	,	,		20920	0.0		0.001	False		,,,				2504	0.0					uc003gto.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(886-888)CTA>CTG		transmembrane protein 156		T		0,4406		0,0,2203	112.0	107.0	109.0		888	-6.9	0.1	4	dbSNP_134	109	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	TMEM156	NM_024943.1		0,17,6486	CC,CT,TT		0.1977,0.0,0.1307		296/297	38972693	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	80008					integral to membrane		g.chr4:38972693T>C	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.888A>G	4.37:g.38972693T>C						TMEM156_uc010ifj.2_Silent_p.L295L	p.L296L	NM_024943	NP_079219	Q8N614	TM156_HUMAN			6	996	-			296			Cytoplasmic (Potential).		Q9H5N9	Silent	SNP	ENST00000381938.3	37	c.888A>G	CCDS3448.1																																																																																				PASS	0.403	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943		6	105	6	105	---	---	---	---
RBM47	54502	broad.mit.edu	37	4	40440165	40440165	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr4:40440165T>C	ENST00000381793.2	-	3	1142	c.746A>G	c.(745-747)tAc>tGc	p.Y249C	RBM47_ENST00000319592.4_Missense_Mutation_p.Y249C|RBM47_ENST00000295971.7_Missense_Mutation_p.Y249C|RBM47_ENST00000514014.1_Missense_Mutation_p.Y211C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.Y249C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	249	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y249C(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTTGCGCACGTAGAGGATCTT	0.622																																						uc003gvc.2																			3	Substitution - Missense(3)		lung(3)	breast(3)	3						c.(745-747)TAC>TGC		RNA binding motif protein 47 isoform a							131.0	110.0	117.0					4																	40440165		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440165T>C	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.746A>G	4.37:g.40440165T>C	ENSP00000371212:p.Tyr249Cys					RBM47_uc003gvd.2_Missense_Mutation_p.Y249C|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.Y211C|RBM47_uc003gvg.1_Missense_Mutation_p.Y249C	p.Y249C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	1456	-			249			RRM 3.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.746A>G	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.684439	0.68157	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.58	5.58	0.84498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.86510	0.5950	M	0.64630	1.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87908	0.2695	10	0.87932	D	0	-18.1365	15.7506	0.77983	0.0:0.0:0.0:1.0	.	249;249	A0AV96-2;A0AV96	.;RBM47_HUMAN	C	249;249;249;249;211	ENSP00000320108:Y249C;ENSP00000371212:Y249C;ENSP00000371214:Y249C;ENSP00000295971:Y249C;ENSP00000423243:Y211C	ENSP00000295971:Y249C	Y	-	2	0	RBM47	40134922	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.235000	0.72332	2.125000	0.65367	0.379000	0.24179	TAC		PASS	0.622	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		59	110	59	110	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44177019	44177019	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr4:44177019G>T	ENST00000360029.3	-	2	1493	c.1210C>A	c.(1210-1212)Cca>Aca	p.P404T		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	404					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.P404T(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CGTTTGTCTGGTGGGGGTATC	0.483										HNSCC(17;0.042)																												uc003gwu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1210-1212)CCA>ACA		potassium channel tetramerisation domain							198.0	203.0	202.0					4																	44177019		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177019G>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1210C>A	4.37:g.44177019G>T	ENSP00000353129:p.Pro404Thr	HNSCC(17;0.042)					p.P404T	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1494	-			404					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1210C>A	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.45|10.45	1.354892|1.354892	0.24512|0.24512	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000515268|ENST00000360029	.|T	.|0.38887	.|1.11	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|0.000000	.|0.52532	.|D	.|0.000072	T|T	0.28732|0.28732	0.0712|0.0712	N|N	0.24115|0.24115	0.695|0.695	0.38439|0.38439	D|D	0.946665|0.946665	.|P	.|0.47762	.|0.9	.|B	.|0.36244	.|0.22	T|T	0.22556|0.22556	-1.0213|-1.0213	5|10	.|0.40728	.|T	.|0.16	.|.	17.2866|17.2866	0.87143|0.87143	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|404	.|Q6ZWB6	.|KCTD8_HUMAN	Q|T	139|404	.|ENSP00000353129:P404T	.|ENSP00000353129:P404T	H|P	-|-	3|1	2|0	KCTD8|KCTD8	43871776|43871776	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.053000|0.053000	0.15095|0.15095	4.764000|4.764000	0.62264|0.62264	2.622000|2.622000	0.88805|0.88805	0.650000|0.650000	0.86243|0.86243	CAC|CCA		PASS	0.483	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			159	259	159	259	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46388199	46388199	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr4:46388199G>T	ENST00000510861.1	-	3	252	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	GABRA2_ENST00000540012.1_De_novo_Start_OutOfFrame|GABRA2_ENST00000514090.1_Missense_Mutation_p.L27M|GABRA2_ENST00000507069.1_Missense_Mutation_p.L27M|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000515082.1_Missense_Mutation_p.L27M|GABRA2_ENST00000507460.1_Missense_Mutation_p.L27M|GABRA2_ENST00000381620.4_Missense_Mutation_p.L27M|GABRA2_ENST00000356504.1_Missense_Mutation_p.L27M			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	27					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L27M(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATGTTAGCCAGCACCAACCTA	0.343																																						uc003gxc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(79-81)CTG>ATG		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						73.0	67.0	69.0					4																	46388199		2202	4300	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46388199G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.79C>A	4.37:g.46388199G>T	ENSP00000421828:p.Leu27Met					GABRA2_uc010igc.2_Missense_Mutation_p.L27M|GABRA2_uc011bzc.1_Translation_Start_Site|GABRA2_uc003gxe.2_Missense_Mutation_p.L27M|GABRA2_uc010igd.1_Missense_Mutation_p.L27M	p.L27M	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			2	752	-			27					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.79C>A	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.394287	0.42410	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961;ENST00000507460	T;T;T;T;T;T;T;T	0.81330	-1.3;-1.3;-1.3;-1.3;-1.4;-1.48;-1.13;-1.13	5.01	5.01	0.66863	.	0.769306	0.11720	N	0.535996	D	0.83903	0.5355	N	0.24115	0.695	0.80722	D	1	D;P;P	0.76494	0.999;0.681;0.688	D;B;B	0.72075	0.976;0.138;0.066	T	0.81364	-0.0966	10	0.37606	T	0.19	.	17.4821	0.87675	0.0:0.0:1.0:0.0	.	27;27;27	D6RAA9;G5E9Z6;P47869	.;.;GBRA2_HUMAN	M	27	ENSP00000421828:L27M;ENSP00000421300:L27M;ENSP00000371033:L27M;ENSP00000348897:L27M;ENSP00000427603:L27M;ENSP00000423840:L27M;ENSP00000424362:L27M;ENSP00000424093:L27M	ENSP00000348897:L27M	L	-	1	2	GABRA2	46082956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.959000	0.49153	2.598000	0.87819	0.585000	0.79938	CTG		PASS	0.343	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			20	39	20	39	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55962494	55962494	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr4:55962494C>A	ENST00000263923.4	-	19	2925	c.2630G>T	c.(2629-2631)aGt>aTt	p.S877I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	877	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.S877I(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCGATGCTCACTGTGTGTTGC	0.463			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2629-2631)AGT>ATT		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						189.0	167.0	175.0					4																	55962494		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55962494C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2630G>T	4.37:g.55962494C>A	ENSP00000263923:p.Ser877Ile	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.S877I	p.S877I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		19	2932	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		877			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2630G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563316	0.86335	.	.	ENSG00000128052	ENST00000263923	D	0.83591	-1.74	5.86	5.01	0.66863	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.087561	0.85682	D	0.000000	D	0.88138	0.6356	L	0.46885	1.475	0.80722	D	1	D	0.61697	0.99	D	0.67231	0.95	D	0.89399	0.3694	10	0.87932	D	0	.	16.915	0.86149	0.0:0.8719:0.1281:0.0	.	877	P35968	VGFR2_HUMAN	I	877	ENSP00000263923:S877I	ENSP00000263923:S877I	S	-	2	0	KDR	55657251	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	6.066000	0.71185	1.441000	0.47550	0.655000	0.94253	AGT		PASS	0.463	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			58	103	58	103	---	---	---	---
CCSER1	401145	broad.mit.edu	37	4	91229477	91229477	+	Silent	SNP	G	G	T	rs562834496		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr4:91229477G>T	ENST00000509176.1	+	2	330	c.42G>T	c.(40-42)cgG>cgT	p.R14R	CCSER1_ENST00000432775.2_Silent_p.R14R|CCSER1_ENST00000333691.8_Silent_p.R14R	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	14	Ser-rich.							p.R14R(2)									TGGTCTCCCGGTTGCCAATAT	0.453																																						uc003hsv.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(40-42)CGG>CGT		KIAA1680 protein isoform 1							61.0	55.0	57.0					4																	91229477		1875	4102	5977	SO:0001819	synonymous_variant	401145							g.chr4:91229477G>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.42G>T	4.37:g.91229477G>T						FAM190A_uc003hsu.3_Silent_p.R14R|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Silent_p.R14R	p.R14R	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			2	382	+			14			Ser-rich.		Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.42G>T	CCDS47099.1																																																																																				PASS	0.453	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		18	6	18	6	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94690580	94690580	+	Silent	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr4:94690580C>A	ENST00000282020.4	+	15	2838	c.2580C>A	c.(2578-2580)ggC>ggA	p.G860G	GRID2_ENST00000510992.1_Silent_p.G765G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	860					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.G860G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AGAGGAAAGGCTCCCGGGTTC	0.488																																						uc011cdt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(2578-2580)GGC>GGA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						75.0	82.0	80.0					4																	94690580		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94690580C>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2580C>A	4.37:g.94690580C>A						GRID2_uc011cdu.1_Silent_p.G765G	p.G860G	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	15	2838	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	860			Cytoplasmic (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.2580C>A	CCDS3637.1																																																																																				PASS	0.488	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			38	22	38	22	---	---	---	---
LPCAT1	79888	broad.mit.edu	37	5	1463865	1463865	+	Silent	SNP	T	T	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:1463865T>C	ENST00000283415.3	-	14	1638	c.1506A>G	c.(1504-1506)gcA>gcG	p.A502A	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	502					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.A502A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GTGAGGTCTCTGCACAGCTTT	0.537																																						uc003jcm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1504-1506)GCA>GCG		lysophosphatidylcholine acyltransferase 1							111.0	110.0	110.0					5																	1463865		2203	4300	6503	SO:0001819	synonymous_variant	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1463865T>C	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1506A>G	5.37:g.1463865T>C						LPCAT1_uc003jcl.2_Silent_p.A76A	p.A502A	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	14	1623	-			502			Lumenal (Potential).		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	c.1506A>G	CCDS3864.1																																																																																				PASS	0.537	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		45	198	45	198	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19747261	19747262	+	Missense_Mutation	DNP	CG	CG	AC	rs368155280		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:19747261_19747262CG>AC	ENST00000507958.1	-	6	1302_1303	c.312_313CG>GT	c.(310-315)gaCGat>gaGTat	p.104_105DD>EY	CDH18_ENST00000502796.1_Missense_Mutation_p.104_105DD>EY|CDH18_ENST00000511273.1_Missense_Mutation_p.104_105DD>EY|CDH18_ENST00000382275.1_Missense_Mutation_p.104_105DD>EY|CDH18_ENST00000506372.1_Missense_Mutation_p.104_105DD>EY|CDH18_ENST00000274170.4_Missense_Mutation_p.104_105DD>EY			Q13634	CAD18_HUMAN	cadherin 18, type 2	104	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D104_D105>EY(2)|p.D105Y(2)|p.D104E(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCGTGGTATCGTCAATGATAA	0.441																																						uc003jgc.2																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)	ovary(5)|large_intestine(1)|skin(1)	7						c.(313-315)GAT>TAT|c.(310-312)GAC>GAG		cadherin 18, type 2 preproprotein																																				SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747261C>A|g.chr5:19747262G>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.312_313delinsAC	5.37:g.19747261_19747262delinsAC	ENSP00000425093:p.D104_D105delinsEY					CDH18_uc003jgd.2_Missense_Mutation_p.D105Y|CDH18_uc011cnm.1_Missense_Mutation_p.D105Y|CDH18_uc003jgd.2_Missense_Mutation_p.D104E|CDH18_uc011cnm.1_Missense_Mutation_p.D104E	p.D105Y|p.D104E	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	690|689	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		105|104			Extracellular (Potential).|Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.313G>T|c.312C>G	CCDS3889.1																																																																																				PASS	0.441	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		66|68	140|141	66	140	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24593426	24593426	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:24593426C>A	ENST00000264463.4	-	2	681	c.174G>T	c.(172-174)tgG>tgT	p.W58C	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	58	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W58C(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAAATTGATTCCACATCCAAC	0.388										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(172-174)TGG>TGT		cadherin 10, type 2 preproprotein							135.0	134.0	134.0					5																	24593426		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24593426C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.174G>T	5.37:g.24593426C>A	ENSP00000264463:p.Trp58Cys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.W58C	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	2	506	-			58			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.174G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816206	0.70912	.	.	ENSG00000040731	ENST00000264463	T	0.00695	5.83	4.37	4.37	0.52481	Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.06600	0.0169	H	0.96015	3.755	0.80722	D	1	D	0.76494	0.999	P	0.58577	0.841	T	0.04870	-1.0921	10	0.87932	D	0	.	16.3044	0.82842	0.0:1.0:0.0:0.0	.	58	Q9Y6N8	CAD10_HUMAN	C	58	ENSP00000264463:W58C	ENSP00000264463:W58C	W	-	3	0	CDH10	24629183	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.990000	0.76225	2.145000	0.66743	0.585000	0.79938	TGG		PASS	0.388	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		69	240	69	240	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95751805	95751805	+	Missense_Mutation	SNP	C	C	G	rs137852823		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:95751805C>G	ENST00000311106.3	-	6	878	c.641G>C	c.(640-642)gGa>gCa	p.G214A	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.G167A	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	214	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.G214A(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGCAATTTCTCCTGCACATCT	0.383																																						uc003kls.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(640-642)GGA>GCA		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						148.0	140.0	143.0					5																	95751805		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95751805C>G		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.641G>C	5.37:g.95751805C>G	ENSP00000308024:p.Gly214Ala						p.G214A	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	6	847	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	214			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.641G>C	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250255	0.95305	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.93906	-3.31;-3.31	6.06	6.06	0.98353	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.97334	0.9128	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97291	0.9924	10	0.87932	D	0	-19.5292	20.2159	0.98296	0.0:1.0:0.0:0.0	.	214	P29120	NEC1_HUMAN	A	214;167	ENSP00000308024:G214A;ENSP00000421600:G167A	ENSP00000308024:G214A	G	-	2	0	PCSK1	95777561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.345000	0.79337	2.882000	0.98803	0.655000	0.94253	GGA		PASS	0.383	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		7	87	7	87	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127680126	127680126	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:127680126G>C	ENST00000508053.1	-	31	4268	c.3294C>G	c.(3292-3294)tgC>tgG	p.C1098W	FBN2_ENST00000262464.4_Missense_Mutation_p.C1098W|FBN2_ENST00000508989.1_Missense_Mutation_p.C1065W			P35556	FBN2_HUMAN	fibrillin 2	1098	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1098W(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TATTGCAACGGCATTTGAAGC	0.413																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(3292-3294)TGC>TGG		fibrillin 2 precursor							146.0	140.0	142.0					5																	127680126		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127680126G>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3294C>G	5.37:g.127680126G>C	ENSP00000424571:p.Cys1098Trp					FBN2_uc003kuv.2_Missense_Mutation_p.C1065W	p.C1098W	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	25	3733	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1098			EGF-like 15; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3294C>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437925	0.25900	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99445	-5.91;-5.91;-5.91	4.54	-3.8	0.04307	EGF-like calcium-binding, conserved site (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.99708	0.9888	H	0.99565	4.63	0.80722	D	1	D;P	0.89917	1.0;0.938	D;P	0.85130	0.997;0.797	D	0.97927	1.0318	10	0.87932	D	0	.	15.6103	0.76710	0.711:0.0:0.289:0.0	.	1065;1098	D6RJI3;P35556	.;FBN2_HUMAN	W	1098;1098;1065	ENSP00000262464:C1098W;ENSP00000424571:C1098W;ENSP00000425596:C1065W	ENSP00000262464:C1098W	C	-	3	2	FBN2	127708025	0.960000	0.32886	0.863000	0.33907	0.015000	0.08874	0.237000	0.17985	-0.928000	0.03761	-0.266000	0.10368	TGC		PASS	0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		81	37	81	37	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140167445	140167445	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:140167445G>T	ENST00000504120.2	+	1	1570	c.1570G>T	c.(1570-1572)Gac>Tac	p.D524Y	PCDHA1_ENST00000394633.3_Missense_Mutation_p.D524Y|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D524Y	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	524	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D524Y(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCCCCTGGACCACGAGGA	0.677																																						uc003lhb.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1570-1572)GAC>TAC		protocadherin alpha 1 isoform 1 precursor							75.0	78.0	77.0					5																	140167445		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167445G>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1570G>T	5.37:g.140167445G>T	ENSP00000420840:p.Asp524Tyr					PCDHA1_uc003lha.2_Missense_Mutation_p.D524Y|PCDHA1_uc003lgz.2_Missense_Mutation_p.D524Y	p.D524Y	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1570	+			524			Cadherin 5.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1570G>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	20.0	3.930012	0.73327	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.65549	-0.16;-0.16;-0.16	3.63	3.63	0.41609	Cadherin (5);Cadherin-like (1);	0.000000	0.43416	U	0.000575	D	0.86406	0.5925	H	0.98048	4.135	0.49582	D	0.999804	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.999	D	0.92114	0.5698	10	0.87932	D	0	.	15.7182	0.77685	0.0:0.0:1.0:0.0	.	524;524;524	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	Y	524	ENSP00000420840:D524Y;ENSP00000378129:D524Y;ENSP00000367373:D524Y	ENSP00000367373:D524Y	D	+	1	0	PCDHA1	140147629	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	9.254000	0.95512	1.768000	0.52137	0.549000	0.68633	GAC		PASS	0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		39	8	39	8	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140558611	140558611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:140558611C>A	ENST00000239444.2	+	1	1241	c.996C>A	c.(994-996)tgC>tgA	p.C332*	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	332	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C332*(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGAAAATGCACCGTTCTGA	0.438																																						uc011dai.1																			1	Substitution - Nonsense(1)		lung(1)	skin(4)	4						c.(994-996)TGC>TGA		protocadherin beta 8 precursor							189.0	259.0	235.0					5																	140558611		2203	4300	6503	SO:0001587	stop_gained	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558611C>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.996C>A	5.37:g.140558611C>A	ENSP00000239444:p.Cys332*					PCDHB16_uc003liv.2_5'Flank	p.C332*	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1182	+			332			Cadherin 3.|Extracellular (Potential).		B9EGV1	Nonsense_Mutation	SNP	ENST00000239444.2	37	c.996C>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196906	0.79015	.	.	ENSG00000120322	ENST00000239444	.	.	.	4.25	1.38	0.22167	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0783	0.36536	0.0:0.6747:0.0:0.3253	.	.	.	.	X	332	.	ENSP00000239444:C332X	C	+	3	2	PCDHB8	140538795	0.000000	0.05858	0.970000	0.41538	0.444000	0.32077	-2.388000	0.01059	0.258000	0.21686	0.585000	0.79938	TGC		PASS	0.438	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		8	161	8	161	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140725487	140725487	+	Silent	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:140725487G>A	ENST00000253812.6	+	1	1887	c.1887G>A	c.(1885-1887)gcG>gcA	p.A629A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	629	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A629A(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCACGGCGCGAGCCCTGC	0.701																																						uc003ljm.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1885-1887)GCG>GCA		protocadherin gamma subfamily A, 3 isoform 1							9.0	14.0	13.0					5																	140725487		1964	3983	5947	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725487G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1887G>A	5.37:g.140725487G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A389A|PCDHGA3_uc011dap.1_Silent_p.A629A	p.A629A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1887	+			629			Extracellular (Potential).|Cadherin 6.		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1887G>A	CCDS47290.1																																																																																				PASS	0.701	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		21	14	21	14	---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140741626	140741626	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:140741626C>A	ENST00000522605.1	+	1	1924	c.1924C>A	c.(1924-1926)Ctg>Atg	p.L642M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L642M(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCAGCGCCTGCTGGTCGC	0.687																																						uc003ljs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1924-1926)CTG>ATG		protocadherin gamma subfamily B, 2 isoform 1							15.0	18.0	17.0					5																	140741626		1880	4088	5968	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741626C>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1924C>A	5.37:g.140741626C>A	ENSP00000429018:p.Leu642Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.L642M|PCDHGA5_uc011das.1_5'Flank	p.L642M	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1924	+			642			Extracellular (Potential).|Cadherin 6.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1924C>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	16.83	3.231407	0.58777	.	.	ENSG00000253910	ENST00000522605	T	0.71341	-0.56	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84365	0.5456	M	0.84219	2.685	0.25277	N	0.989465	D;D	0.65815	0.994;0.995	D;D	0.68765	0.96;0.955	T	0.77078	-0.2721	9	0.87932	D	0	.	13.964	0.64199	0.0:0.735:0.265:0.0	.	642;642	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	M	642	ENSP00000429018:L642M	ENSP00000429018:L642M	L	+	1	2	PCDHGB2	140721810	0.829000	0.29322	1.000000	0.80357	0.914000	0.54420	1.608000	0.36847	2.510000	0.84645	0.454000	0.30748	CTG		PASS	0.687	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		11	1	11	1	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140779598	140779598	+	Intron	SNP	G	G	C	rs373709904		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:140779598G>C	ENST00000576222.1	+	1	2546				PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGCCCGCCAGCGCCTG	0.687																																						uc003lkf.1																			0					0						c.(1903-1905)CGC>CCC		protocadherin gamma subfamily B, 5 isoform 1							35.0	40.0	38.0					5																	140779598		2081	4201	6282	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779598G>C	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+27222G>C	5.37:g.140779598G>C						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.R635P|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	p.R635P	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1904	+			635			Cadherin 6.|Extracellular (Potential).		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1904G>C	CCDS58980.1																																																																																				PASS	0.687	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		26	8	26	8	---	---	---	---
FBXO38	81545	broad.mit.edu	37	5	147821650	147821650	+	Silent	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:147821650G>T	ENST00000340253.5	+	22	3675	c.3507G>T	c.(3505-3507)gtG>gtT	p.V1169V	FBXO38_ENST00000394370.3_Silent_p.V1094V|FBXO38_ENST00000296701.6_Silent_p.V924V|FBXO38_ENST00000513826.1_Silent_p.V924V			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1169					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V1169V(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGAGTAGTGGCAATTTTTA	0.418																																						uc003lpf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(3505-3507)GTG>GTT		F-box protein 38 isoform b							177.0	162.0	167.0					5																	147821650		2203	4300	6503	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147821650G>T	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3507G>T	5.37:g.147821650G>T						FBXO38_uc003lpg.1_Silent_p.V1094V|FBXO38_uc003lph.2_Silent_p.V924V	p.V1169V	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	3627	+			1169					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.3507G>T																																																																																					PASS	0.418	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		13	132	13	132	---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148207106	148207106	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:148207106G>A	ENST00000305988.4	+	1	951	c.712G>A	c.(712-714)Ggc>Agc	p.G238S		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	238					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.G238S(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	CAAATCTGAGGGCCGCTTCCA	0.552																																						uc003lpr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(712-714)GGC>AGC		adrenergic, beta-2-, receptor, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						94.0	89.0	91.0					5																	148207106		2203	4300	6503	SO:0001583	missense	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148207106G>A	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.712G>A	5.37:g.148207106G>A	ENSP00000305372:p.Gly238Ser					SH3TC2_uc003lpp.1_Intron	p.G238S	NM_000024	NP_000015	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	951	+			238			Cytoplasmic.		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	c.712G>A	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858391	0.71834	.	.	ENSG00000169252	ENST00000305988	T	0.39056	1.1	5.44	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.051394	0.85682	N	0.000000	T	0.45316	0.1336	L	0.49699	1.58	0.80722	D	1	P	0.48589	0.912	P	0.47376	0.545	T	0.44498	-0.9324	10	0.49607	T	0.09	.	14.0694	0.64851	0.0714:0.0:0.9286:0.0	.	238	P07550	ADRB2_HUMAN	S	238	ENSP00000305372:G238S	ENSP00000305372:G238S	G	+	1	0	ADRB2	148187299	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	6.377000	0.73145	1.537000	0.49254	0.655000	0.94253	GGC		PASS	0.552	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		35	21	35	21	---	---	---	---
CSF1R	1436	broad.mit.edu	37	5	149465950	149465950	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:149465950G>T	ENST00000286301.3	-	2	332	c.41C>A	c.(40-42)gCt>gAt	p.A14D	CSF1R_ENST00000543093.1_Missense_Mutation_p.A14D	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	14					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.A14D(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACCATGCCAAGCTGTGGCCAC	0.627																																						uc003lrl.2																			2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(40-42)GCT>GAT		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						45.0	44.0	44.0					5																	149465950		2202	4300	6502	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149465950G>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.41C>A	5.37:g.149465950G>T	ENSP00000286301:p.Ala14Asp					CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.A14D|CSF1R_uc011dce.1_Missense_Mutation_p.A14D|CSF1R_uc011dcf.1_Missense_Mutation_p.A14D	p.A14D	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		1	236	-			14					B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.41C>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597166	0.46318	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.77877	-1.13;1.2	4.7	-0.318	0.12728	.	0.903592	0.09330	N	0.816993	T	0.69691	0.3139	L	0.53249	1.67	0.09310	N	1	P;P;P	0.45902	0.868;0.698;0.528	B;B;B	0.39299	0.26;0.205;0.296	T	0.59268	-0.7486	10	0.52906	T	0.07	.	7.9696	0.30119	0.406:0.0:0.594:0.0	.	14;14;14	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	D	14	ENSP00000286301:A14D;ENSP00000445282:A14D	ENSP00000286301:A14D	A	-	2	0	CSF1R	149446143	0.001000	0.12720	0.898000	0.35279	0.981000	0.71138	0.032000	0.13732	0.022000	0.15160	0.561000	0.74099	GCT		PASS	0.627	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		6	2	6	2	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156947033	156947033	+	Silent	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:156947033C>T	ENST00000517905.1	-	6	458	c.414G>A	c.(412-414)ctG>ctA	p.L138L	ADAM19_ENST00000394020.1_Silent_p.L140L|ADAM19_ENST00000257527.4_Silent_p.L138L|ADAM19_ENST00000430702.2_5'UTR			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	138					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L138L(1)|p.L139L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCACCGTAATCAGTCCTCTGT	0.473																																						uc003lwz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(412-414)CTG>CTA		ADAM metallopeptidase domain 19 preproprotein							92.0	95.0	94.0					5																	156947033		2203	4300	6503	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156947033C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.414G>A	5.37:g.156947033C>T						ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Silent_p.L69L	p.L138L	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	478	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	138					Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.414G>A																																																																																					PASS	0.473	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		7	78	7	78	---	---	---	---
FGF18	8817	broad.mit.edu	37	5	170883546	170883546	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:170883546G>T	ENST00000274625.5	+	5	905	c.361G>T	c.(361-363)Gat>Tat	p.D121Y		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	121					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.D121Y(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTGCAGCCCGATGGCACCAG	0.522																																						uc003mbk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)GAT>TAT		fibroblast growth factor 18 precursor							65.0	62.0	63.0					5																	170883546		2203	4300	6503	SO:0001583	missense	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170883546G>T	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.361G>T	5.37:g.170883546G>T	ENSP00000274625:p.Asp121Tyr						p.D121Y	NM_003862	NP_003853	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	898	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	121					D3DQL7|Q6UWF1	Missense_Mutation	SNP	ENST00000274625.5	37	c.361G>T	CCDS4378.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918726	0.52546	.	.	ENSG00000156427	ENST00000274625	D	0.81579	-1.51	5.27	5.27	0.74061	.	0.169443	0.53938	D	0.000055	T	0.81725	0.4883	L	0.35288	1.05	0.49798	D	0.999826	D	0.65815	0.995	P	0.60609	0.877	T	0.82248	-0.0551	10	0.52906	T	0.07	-13.7528	11.929	0.52835	0.0806:0.0:0.9194:0.0	.	121	O76093	FGF18_HUMAN	Y	121	ENSP00000274625:D121Y	ENSP00000274625:D121Y	D	+	1	0	FGF18	170816151	1.000000	0.71417	0.838000	0.33150	0.807000	0.45602	5.719000	0.68462	2.468000	0.83385	0.655000	0.94253	GAT		PASS	0.522	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862		53	20	53	20	---	---	---	---
HRH2	3274	broad.mit.edu	37	5	175110623	175110623	+	Silent	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:175110623G>T	ENST00000231683.2	+	1	2160	c.387G>T	c.(385-387)ctG>ctT	p.L129L	HRH2_ENST00000377291.2_Silent_p.L129L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	129					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.L129L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	ACCCTGTGCTGGTCACCCCAG	0.557																																						uc003mdd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(385-387)CTG>CTT		histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						137.0	115.0	122.0					5																	175110623		2203	4300	6503	SO:0001819	synonymous_variant	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110623G>T		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.387G>T	5.37:g.175110623G>T						HRH2_uc003mdc.3_Silent_p.L129L	p.L129L	NM_022304	NP_071640	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2160	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	129			Cytoplasmic (Potential).		B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	c.387G>T	CCDS4395.1																																																																																				PASS	0.557	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			31	15	31	15	---	---	---	---
ZNF454	285676	broad.mit.edu	37	5	178392042	178392042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:178392042G>T	ENST00000320129.3	+	5	940	c.637G>T	c.(637-639)Gag>Tag	p.E213*	ZNF454_ENST00000519564.1_Nonsense_Mutation_p.E213*	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	213					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)	p.E213*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCATATTAAGGAGAAAAGATA	0.353																																						uc003mjo.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(637-639)GAG>TAG		zinc finger protein 454							53.0	58.0	56.0					5																	178392042		2203	4300	6503	SO:0001587	stop_gained	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392042G>T	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.637G>T	5.37:g.178392042G>T	ENSP00000326249:p.Glu213*					ZNF454_uc010jkz.1_Nonsense_Mutation_p.E213*	p.E213*	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	908	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	213					Q2M1P2|Q2M323	Nonsense_Mutation	SNP	ENST00000320129.3	37	c.637G>T	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906218	0.92107	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	.	.	.	4.61	4.61	0.57282	.	0.000000	0.39909	N	0.001226	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-23.2548	8.8208	0.35025	0.1005:0.0:0.8995:0.0	.	.	.	.	X	213	.	ENSP00000326249:E213X	E	+	1	0	ZNF454	178324648	1.000000	0.71417	0.978000	0.43139	0.370000	0.29829	4.500000	0.60387	2.550000	0.86006	0.555000	0.69702	GAG		PASS	0.353	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		50	30	50	30	---	---	---	---
BTNL9	153579	broad.mit.edu	37	5	180477308	180477308	+	Silent	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr5:180477308G>A	ENST00000327705.9	+	4	906	c.675G>A	c.(673-675)gtG>gtA	p.V225V	BTNL9_ENST00000515271.1_Silent_p.V156V|BTNL9_ENST00000376841.2_Silent_p.V225V|BTNL9_ENST00000376842.3_Silent_p.V225V	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	225						integral component of membrane (GO:0016021)		p.V225V(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGCAATGTGTCCGTCTCCA	0.547																																						uc003mmt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(673-675)GTG>GTA		butyrophilin-like 9 precursor							115.0	115.0	115.0					5																	180477308		2203	4300	6503	SO:0001819	synonymous_variant	153579					integral to membrane		g.chr5:180477308G>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.675G>A	5.37:g.180477308G>A						BTNL9_uc011dhi.1_Silent_p.V156V	p.V225V	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	906	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	225			Extracellular (Potential).		A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	c.675G>A	CCDS4460.2																																																																																				PASS	0.547	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		52	25	52	25	---	---	---	---
OFCC1	266553	broad.mit.edu	37	6	9933028	9933028	+	Missense_Mutation	SNP	C	C	A	rs558174791	byFrequency	TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:9933028C>A	ENST00000316020.6	-	4	434	c.435G>T	c.(433-435)agG>agT	p.R145S	OFCC1_ENST00000472329.1_5'UTR			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1	77			T -> I (in dbSNP:rs9477211).					p.R77S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				AGGCTGGCAGCCTGAATTTTT	0.488																																						uc003myg.1																			1	Substitution - Missense(1)		lung(1)										Homo sapiens clone 958LR MRDS1 protein (MRDS1) mRNA, complete cds.							190.0	181.0	184.0					6																	9933028		2203	4300	6503	SO:0001583	missense	0							g.chr6:9933028C>A	AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000316020.6:c.435G>T	6.37:g.9933028C>A	ENSP00000325053:p.Arg145Ser					uc010jog.1_Missense_Mutation_p.R52S|uc003myh.1_Missense_Mutation_p.R77S|uc003myj.1_Missense_Mutation_p.R77S|uc003myk.1_RNA|uc003myn.2_Missense_Mutation_p.R77S|uc010joi.1_Missense_Mutation_p.R145S|uc010joh.1_RNA|uc011dif.1_Missense_Mutation_p.R77S|uc011dig.1_Missense_Mutation_p.R77S								2		-								Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	RNA	SNP	ENST00000316020.6	37	c.219G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.01|12.01	1.809026|1.809026	0.31961|0.31961	.|.	.|.	ENSG00000181355|ENSG00000181355	ENST00000492169|ENST00000460363;ENST00000316020;ENST00000491508	.|T;T	.|0.35421	.|1.32;1.31	5.91|5.91	4.99|4.99	0.66335|0.66335	.|.	.|0.227387	.|0.45606	.|D	.|0.000344	T|T	0.13927|0.13927	0.0337|0.0337	.|.	.|.	.|.	0.36012|0.36012	D|D	0.838167|0.838167	.|B;B;B;B;B	.|0.28850	.|0.225;0.033;0.033;0.225;0.033	.|B;B;B;B;B	.|0.23574	.|0.047;0.012;0.012;0.047;0.008	T|T	0.04090|0.04090	-1.0978|-1.0978	4|8	.|.	.|.	.|.	-7.3736|-7.3736	16.5754|16.5754	0.84635|0.84635	0.0:0.8699:0.1301:0.0|0.0:0.8699:0.1301:0.0	.|.	.|77;145;77;77;77	.|B7ZLI9;Q8IZS5-2;E9PHR2;Q8IZS5;Q8IZS5-3	.|.;.;.;OFCC1_HUMAN;.	S|S	60|77;145;145	.|ENSP00000325053:R145S;ENSP00000418251:R145S	.|.	A|R	-|-	1|3	0|2	OFCC1|OFCC1	10041014|10041014	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	3.634000|3.634000	0.54302|0.54302	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCT|AGG		PASS	0.488	OFCC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_153003		82	191	82	191	---	---	---	---
PSMB8	5696	broad.mit.edu	37	6	32810867	32810867	+	Splice_Site	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:32810867C>A	ENST00000374882.3	-	2	198		c.e2-1		PSMB8_ENST00000395339.3_Splice_Site|PSMB9_ENST00000395330.1_5'Flank|PSMB8_ENST00000374881.2_Splice_Site|TAPSAR1_ENST00000453426.1_lincRNA	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.?(2)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	ATTCTGTGGGCTGATAAGAGA	0.488																																					NSCLC(48;53 1172 10859 13624 22883)	uc003oce.2																			2	Unknown(2)		lung(2)	skin(1)	1						c.e2-1		proteasome beta 8 subunit isoform E2 proprotein							59.0	61.0	60.0					6																	32810867		1511	2709	4220	SO:0001630	splice_region_variant	5696				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32810867C>A		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.148-1G>T	6.37:g.32810867C>A						PSMB8_uc003ocf.2_Splice_Site_p.P46_splice|PSMB8_uc011dqh.1_Intron	p.P50_splice	NM_148919	NP_683720	P28062	PSB8_HUMAN			2	191	-								B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Splice_Site	SNP	ENST00000374882.3	37	c.148_splice	CCDS4757.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489329	0.44249	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6447	0.88145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSMB8	32918845	1.000000	0.71417	0.997000	0.53966	0.199000	0.23934	6.873000	0.75541	2.761000	0.94854	0.643000	0.83706	.		PASS	0.488	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919	Intron	25	60	25	60	---	---	---	---
MDGA1	266727	broad.mit.edu	37	6	37614074	37614074	+	Silent	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:37614074C>T	ENST00000434837.3	-	11	3302	c.2124G>A	c.(2122-2124)ctG>ctA	p.L708L	MDGA1_ENST00000297153.7_Silent_p.L711L|MDGA1_ENST00000505425.1_Silent_p.L708L|MDGA1_ENST00000510077.1_5'Flank	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	708	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.L710L(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GGAGATCGGTCAGGATGTACT	0.592																																						uc003onu.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(2122-2124)CTG>CTA		MAM domain containing							61.0	67.0	65.0					6																	37614074		2128	4235	6363	SO:0001819	synonymous_variant	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37614074C>T	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2124G>A	6.37:g.37614074C>T						MDGA1_uc003onv.1_5'UTR	p.L708L	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN			11	3303	-			708			Fibronectin type-III.		A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	c.2124G>A	CCDS47417.1																																																																																				PASS	0.592	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			6	12	6	12	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40400339	40400339	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:40400339T>G	ENST00000338305.6	-	2	1056	c.514A>C	c.(514-516)Atg>Ctg	p.M172L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	172						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.M172L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGTTGACCATGCGTCGCACG	0.592																																						uc003oph.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(514-516)ATG>CTG		leucine rich repeat and fibronectin type III							87.0	88.0	87.0					6																	40400339		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400339T>G	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.514A>C	6.37:g.40400339T>G	ENSP00000345985:p.Met172Leu						p.M172L	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	979	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		172			Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.514A>C	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617462	0.46736	.	.	ENSG00000156564	ENST00000338305	T	0.36340	1.26	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.09158	0.0226	N	0.03029	-0.43	0.80722	D	1	B	0.18968	0.032	B	0.32022	0.139	T	0.24440	-1.0160	10	0.15066	T	0.55	.	14.8899	0.70600	0.0:0.0:0.0:1.0	.	172	Q9ULH4	LRFN2_HUMAN	L	172	ENSP00000345985:M172L	ENSP00000345985:M172L	M	-	1	0	LRFN2	40508317	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.209000	0.71365	0.533000	0.62120	ATG		PASS	0.592	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		5	114	5	114	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40400484	40400484	+	Silent	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:40400484C>A	ENST00000338305.6	-	2	911	c.369G>T	c.(367-369)ctG>ctT	p.L123L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	123						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L123L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGGTTGACCAGGCCCCGGA	0.582																																						uc003oph.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(367-369)CTG>CTT		leucine rich repeat and fibronectin type III							54.0	47.0	50.0					6																	40400484		2203	4300	6503	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400484C>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.369G>T	6.37:g.40400484C>A							p.L123L	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	834	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		123			Extracellular (Potential).		A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.369G>T	CCDS34443.1																																																																																				PASS	0.582	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		21	45	21	45	---	---	---	---
CUL7	9820	broad.mit.edu	37	6	43020080	43020080	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:43020080G>T	ENST00000265348.3	-	2	532	c.447C>A	c.(445-447)agC>agA	p.S149R	CUL7_ENST00000535468.1_Missense_Mutation_p.S201R			Q14999	CUL7_HUMAN	cullin 7	149					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.S149R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGGCTCAATGCTGGCATAGG	0.562																																						uc003otq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(445-447)AGC>AGA		cullin 7							64.0	56.0	58.0					6																	43020080		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43020080G>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.447C>A	6.37:g.43020080G>T	ENSP00000265348:p.Ser149Arg					CUL7_uc011dvb.1_Missense_Mutation_p.S201R|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	p.S149R	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		2	750	-			149					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.447C>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791599	0.70452	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.64618	0.87;-0.11	5.51	5.51	0.81932	Armadillo-like helical (1);	0.156649	0.64402	D	0.000020	T	0.62877	0.2464	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.973	T	0.68032	-0.5516	10	0.87932	D	0	-3.8951	13.6644	0.62387	0.0744:0.0:0.9256:0.0	.	201;149	F5H0L1;Q14999	.;CUL7_HUMAN	R	149;201	ENSP00000265348:S149R;ENSP00000438788:S201R	ENSP00000265348:S149R	S	-	3	2	CUL7	43128058	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.631000	0.74277	2.576000	0.86940	0.561000	0.74099	AGC		PASS	0.562	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		5	98	5	98	---	---	---	---
MEP1A	4224	broad.mit.edu	37	6	46803046	46803046	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:46803046G>T	ENST00000230588.4	+	13	1853	c.1844G>T	c.(1843-1845)gGc>gTc	p.G615V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	615					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G615V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGCCCCCAAGGCCTCATTCTC	0.547																																						uc010jzh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1843-1845)GGC>GTC		meprin A alpha precursor							16.0	15.0	16.0					6																	46803046		2203	4298	6501	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46803046G>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1844G>T	6.37:g.46803046G>T	ENSP00000230588:p.Gly615Val					MEP1A_uc011dwg.1_Missense_Mutation_p.G337V|MEP1A_uc011dwh.1_Missense_Mutation_p.G643V|MEP1A_uc011dwi.1_Missense_Mutation_p.G515V	p.G615V	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		13	1886	+			615			Extracellular (Potential).		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1844G>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552161	0.45487	.	.	ENSG00000112818	ENST00000230588	T	0.24723	1.84	5.2	2.43	0.29744	.	0.376128	0.26535	N	0.023838	T	0.15998	0.0385	M	0.64997	1.995	0.09310	N	0.999999	P;D	0.54047	0.679;0.964	B;P	0.52267	0.238;0.694	T	0.10337	-1.0634	10	0.24483	T	0.36	-7.5021	7.4771	0.27382	0.365:0.0:0.635:0.0	.	643;615	B7ZL91;Q16819	.;MEP1A_HUMAN	V	615	ENSP00000230588:G615V	ENSP00000230588:G615V	G	+	2	0	MEP1A	46911005	0.998000	0.40836	0.030000	0.17652	0.008000	0.06430	1.390000	0.34464	0.295000	0.22570	-0.157000	0.13467	GGC		PASS	0.547	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		19	8	19	8	---	---	---	---
GSTA1	2938	broad.mit.edu	37	6	52658956	52658956	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:52658956T>G	ENST00000334575.5	-	5	536	c.381A>C	c.(379-381)aaA>aaC	p.K127N	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	127	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.K127N(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GATTTTTTATTTTCTCTTTGA	0.418																																						uc003paz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(379-381)AAA>AAC		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						238.0	234.0	235.0					6																	52658956		2203	4300	6503	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52658956T>G		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.381A>C	6.37:g.52658956T>G	ENSP00000335620:p.Lys127Asn						p.K127N	NM_145740	NP_665683	P08263	GSTA1_HUMAN			5	493	-	Lung NSC(77;0.118)		127			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.381A>C	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	t	8.551	0.875548	0.17395	.	.	ENSG00000243955	ENST00000334575	T	0.02140	4.43	2.58	-0.149	0.13420	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.617518	0.15452	N	0.261588	T	0.02533	0.0077	M	0.87547	2.89	0.09310	N	1	D	0.55172	0.97	P	0.50860	0.652	T	0.21827	-1.0234	10	0.56958	D	0.05	.	6.143	0.20271	0.0:0.3836:0.0:0.6164	.	127	P08263	GSTA1_HUMAN	N	127	ENSP00000335620:K127N	ENSP00000335620:K127N	K	-	3	2	GSTA1	52766915	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.860000	0.04272	-0.341000	0.08376	-1.322000	0.01289	AAA		PASS	0.418	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			15	648	15	648	---	---	---	---
TPBG	7162	broad.mit.edu	37	6	83075380	83075380	+	Silent	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:83075380C>T	ENST00000369750.3	+	2	1319	c.702C>T	c.(700-702)ccC>ccT	p.P234P	TPBG_ENST00000535040.1_Silent_p.P234P|TPBG_ENST00000543496.1_Silent_p.P234P			Q13641	TPBG_HUMAN	trophoblast glycoprotein	234					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)		p.P234P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CCCAACTGCCCAGCCTCAGGC	0.622																																						uc003pjn.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(700-702)CCC>CCT		trophoblast glycoprotein precursor							66.0	74.0	71.0					6																	83075380		2203	4300	6503	SO:0001819	synonymous_variant	7162				cell adhesion	integral to plasma membrane		g.chr6:83075380C>T	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.702C>T	6.37:g.83075380C>T						TPBG_uc010kbj.2_Silent_p.P234P|TPBG_uc003pjo.2_Silent_p.P234P	p.P234P	NM_006670	NP_006661	Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	3	1638	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	234			Extracellular (Potential).		A8K555	Silent	SNP	ENST00000369750.3	37	c.702C>T	CCDS4995.1																																																																																				PASS	0.622	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			38	107	38	107	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84895046	84895046	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:84895046C>T	ENST00000403245.3	-	13	1636	c.1522G>A	c.(1522-1524)Gcg>Acg	p.A508T	KIAA1009_ENST00000257766.4_Missense_Mutation_p.A432T|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2												p.A508T(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTAACTGACGCATATAATCCA	0.413																																						uc010kbp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1522-1524)GCG>ACG		KIAA1009 protein							160.0	160.0	160.0					6																	84895046		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84895046C>T																												ENST00000403245.3:c.1522G>A	6.37:g.84895046C>T	ENSP00000385215:p.Ala508Thr					KIAA1009_uc003pkj.3_Missense_Mutation_p.A432T|KIAA1009_uc003pkk.2_Missense_Mutation_p.A508T|KIAA1009_uc003pki.3_5'UTR	p.A508T	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	13	1619	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	508						Missense_Mutation	SNP	ENST00000403245.3	37	c.1522G>A	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202127	0.58234	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.21543	2.0;2.01	5.21	4.34	0.51931	.	0.186153	0.38217	N	0.001777	T	0.26919	0.0659	M	0.72118	2.19	0.28926	N	0.891852	D;D	0.63046	0.977;0.992	P;P	0.61592	0.787;0.891	T	0.08086	-1.0739	10	0.72032	D	0.01	-9.0904	11.0052	0.47629	0.0:0.9118:0.0:0.0882	.	508;508	Q5TB80;C9JFM9	QN1_HUMAN;.	T	432;508	ENSP00000257766:A432T;ENSP00000385215:A508T	ENSP00000257766:A432T	A	-	1	0	KIAA1009	84951765	0.981000	0.34729	0.973000	0.42090	0.251000	0.25915	0.528000	0.23002	1.329000	0.45376	0.544000	0.68410	GCG		PASS	0.413	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			82	228	82	228	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102124587	102124587	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:102124587G>A	ENST00000421544.1	+	4	1121	c.631G>A	c.(631-633)Gca>Aca	p.A211T	GRIK2_ENST00000413795.1_Missense_Mutation_p.A211T|GRIK2_ENST00000369138.1_Missense_Mutation_p.A211T|GRIK2_ENST00000318991.6_Missense_Mutation_p.A211T|GRIK2_ENST00000369134.4_Missense_Mutation_p.A162T|GRIK2_ENST00000358361.3_Missense_Mutation_p.A211T|GRIK2_ENST00000369137.3_Missense_Mutation_p.A211T	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	211					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.A211T(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TACAAAGGATGCAAAACCCTT	0.368																																						uc003pqp.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(631-633)GCA>ACA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						73.0	74.0	74.0					6																	102124587		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102124587G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.631G>A	6.37:g.102124587G>A	ENSP00000397026:p.Ala211Thr					GRIK2_uc003pqn.2_Missense_Mutation_p.A211T|GRIK2_uc003pqo.3_Missense_Mutation_p.A211T|GRIK2_uc010kcw.2_Missense_Mutation_p.A211T	p.A211T	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	4	880	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	211			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.631G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251020	0.59212	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.060149	0.64402	D	0.000003	T	0.09291	0.0229	L	0.27053	0.805	0.52099	D	0.999948	B;B;B	0.22983	0.064;0.078;0.013	B;B;B	0.19946	0.023;0.027;0.016	T	0.11494	-1.0585	10	0.25106	T	0.35	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	211;211;211	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	T	211;211;211;211;211;211;211;162;173	ENSP00000397026:A211T;ENSP00000405596:A211T;ENSP00000358134:A211T;ENSP00000351128:A211T;ENSP00000358133:A211T;ENSP00000313276:A211T;ENSP00000358130:A162T	ENSP00000313276:A211T	A	+	1	0	GRIK2	102231280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.811000	0.75221	2.698000	0.92095	0.585000	0.79938	GCA		PASS	0.368	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			36	66	36	66	---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150004707	150004707	+	Silent	SNP	T	T	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:150004707T>C	ENST00000543571.1	-	4	2065	c.1518A>G	c.(1516-1518)ccA>ccG	p.P506P	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Silent_p.P506P|LATS1_ENST00000253339.5_Silent_p.P506P	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.P506P(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCTGTAGCTCTGGTTTTAATA	0.453																																						uc003qmu.1																			2	Substitution - coding silent(2)		lung(2)	lung(5)|central_nervous_system(1)	6						c.(1516-1518)CCA>CCG		LATS homolog 1							136.0	140.0	138.0					6																	150004707		2203	4300	6503	SO:0001819	synonymous_variant	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150004707T>C	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1518A>G	6.37:g.150004707T>C						LATS1_uc010kif.1_Silent_p.P401P|LATS1_uc003qmv.1_Silent_p.P506P|LATS1_uc003qmw.2_Silent_p.P506P|LATS1_uc010kig.1_Silent_p.P401P	p.P506P	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	2066	-		Ovarian(120;0.0164)	506						Silent	SNP	ENST00000543571.1	37	c.1518A>G	CCDS34551.1																																																																																				PASS	0.453	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		81	197	81	197	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152451874	152451874	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:152451874C>T	ENST00000367255.5	-	145	26735	c.26134G>A	c.(26134-26136)Gtc>Atc	p.V8712I	SYNE1_ENST00000356820.4_Missense_Mutation_p.V3236I|SYNE1_ENST00000539504.1_Missense_Mutation_p.V867I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V8324I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.V8712I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V8664I|SYNE1_ENST00000354674.4_Missense_Mutation_p.V890I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V8664I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8712	Ser-rich.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V8712I(2)|p.V8664I(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGACTGCTGACAGAGGGTCCA	0.468										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(26134-26136)GTC>ATC		spectrin repeat containing, nuclear envelope 1							141.0	122.0	128.0					6																	152451874		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152451874C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.26134G>A	6.37:g.152451874C>T	ENSP00000356224:p.Val8712Ile	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.V3236I|SYNE1_uc003qos.3_Missense_Mutation_p.V3236I|SYNE1_uc003qot.3_Missense_Mutation_p.V8664I|SYNE1_uc003qou.3_Missense_Mutation_p.V8712I|SYNE1_uc003qop.3_Missense_Mutation_p.V897I|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron	p.V8712I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	145	26736	-		Ovarian(120;0.0955)	8712			Ser-rich.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.26134G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667914	0.88348	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000354674	T;T;T;T;T;T;T;T	0.55588	0.6;4.65;0.61;0.51;0.61;0.72;2.61;4.66	5.42	5.42	0.78866	.	0.000000	0.47455	D	0.000222	T	0.61060	0.2317	L	0.60455	1.87	0.80722	D	1	D;D;D	0.64830	0.99;0.99;0.994	P;P;P	0.59221	0.718;0.718;0.854	T	0.61700	-0.7009	10	0.56958	D	0.05	.	19.5706	0.95413	0.0:1.0:0.0:0.0	.	8712;8712;8664	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	8712;867;8664;8712;8664;8324;3236;897;892;890	ENSP00000356224:V8712I;ENSP00000441052:V867I;ENSP00000396024:V8664I;ENSP00000265368:V8712I;ENSP00000390975:V8664I;ENSP00000341887:V8324I;ENSP00000349276:V3236I;ENSP00000346701:V890I	ENSP00000265368:V8712I	V	-	1	0	SYNE1	152493567	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.695000	0.68279	2.698000	0.92095	0.655000	0.94253	GTC		PASS	0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	40	7	40	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152737884	152737884	+	Silent	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:152737884A>G	ENST00000367255.5	-	41	6289	c.5688T>C	c.(5686-5688)agT>agC	p.S1896S	SYNE1_ENST00000341594.5_Silent_p.S1933S|SYNE1_ENST00000265368.4_Silent_p.S1896S|SYNE1_ENST00000423061.1_Silent_p.S1903S|SYNE1_ENST00000448038.1_Silent_p.S1903S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1896					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S1896S(2)|p.S1903S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTATTCATACTGTTGGTTG	0.488										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(5686-5688)AGT>AGC		spectrin repeat containing, nuclear envelope 1							110.0	106.0	107.0					6																	152737884		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152737884A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5688T>C	6.37:g.152737884A>G		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.S1903S|SYNE1_uc003qou.3_Silent_p.S1896S|SYNE1_uc010kjb.1_Silent_p.S1879S	p.S1896S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6290	-		Ovarian(120;0.0955)	1896			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.5688T>C	CCDS5236.2																																																																																				PASS	0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		67	66	67	66	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	161969928	161969928	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr6:161969928C>A	ENST00000366898.1	-	9	1143	c.1041G>T	c.(1039-1041)caG>caT	p.Q347H	PARK2_ENST00000338468.3_Missense_Mutation_p.Q156H|PARK2_ENST00000366894.1_Missense_Mutation_p.Q156H|PARK2_ENST00000366896.1_Missense_Mutation_p.Q198H|PARK2_ENST00000366892.1_Missense_Mutation_p.Q347H|PARK2_ENST00000366897.1_Missense_Mutation_p.Q319H	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	347					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.Q347H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TGACTTTCCTCTGGTCAGGCT	0.632																																						uc003qtx.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1039-1041)CAG>CAT		parkin isoform 1							68.0	71.0	70.0					6																	161969928		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161969928C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1041G>T	6.37:g.161969928C>A	ENSP00000355865:p.Gln347His					PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.Q156H|PARK2_uc003qtw.3_Missense_Mutation_p.Q156H|PARK2_uc003qty.3_Missense_Mutation_p.Q319H|PARK2_uc003qtz.3_Missense_Mutation_p.Q198H|PARK2_uc010kke.1_Missense_Mutation_p.Q366H|PARK2_uc011egf.1_Missense_Mutation_p.Q21H	p.Q347H	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	9	1175	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	347			IBR-type.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.1041G>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721350	0.30503	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	T;T;T;T;T;D	0.89810	-0.04;-0.04;-0.04;-0.04;-0.04;-2.57	5.72	2.92	0.33932	Zinc finger, C6HC-type (2);	1.255620	0.05400	N	0.540547	D	0.83848	0.5343	L	0.29908	0.895	0.09310	N	1	D;P;P;P;P	0.56287	0.975;0.47;0.915;0.915;0.937	P;B;P;P;P	0.60345	0.743;0.273;0.544;0.643;0.873	T	0.73811	-0.3865	10	0.45353	T	0.12	.	8.1479	0.31124	0.0:0.7321:0.1277:0.1402	.	366;198;319;347;156	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	H	347;319;198;156;156;156;347	ENSP00000355865:Q347H;ENSP00000355863:Q319H;ENSP00000355862:Q198H;ENSP00000355860:Q156H;ENSP00000343589:Q156H;ENSP00000355858:Q347H	ENSP00000343589:Q156H	Q	-	3	2	PARK2	161889918	0.967000	0.33354	0.000000	0.03702	0.012000	0.07955	1.370000	0.34238	0.735000	0.32537	-0.133000	0.14855	CAG		PASS	0.632	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			103	94	103	94	---	---	---	---
GPNMB	10457	broad.mit.edu	37	7	23296615	23296615	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:23296615G>C	ENST00000381990.2	+	4	633	c.472G>C	c.(472-474)Gat>Cat	p.D158H	GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000409458.3_Missense_Mutation_p.D158H|GPNMB_ENST00000539136.1_Missense_Mutation_p.D59H|GPNMB_ENST00000258733.4_Missense_Mutation_p.D158H	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	158					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.D158H(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGTCTTCCCTGATGGGAAACC	0.483																																						uc003swc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(472-474)GAT>CAT		glycoprotein (transmembrane) nmb isoform a							130.0	113.0	118.0					7																	23296615		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23296615G>C	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.472G>C	7.37:g.23296615G>C	ENSP00000371420:p.Asp158His					GPNMB_uc003swa.2_Missense_Mutation_p.D158H|GPNMB_uc003swb.2_Missense_Mutation_p.D158H|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Missense_Mutation_p.D59H	p.D158H	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		4	633	+			158			Extracellular (Potential).		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.472G>C	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751257	0.89753	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000539136	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.54711	0.1875	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	P;D;D;D	0.97110	0.847;0.963;1.0;0.996	T	0.62680	-0.6803	10	0.87932	D	0	-14.2516	19.1545	0.93504	0.0:0.0:1.0:0.0	.	59;158;158;158	F6SKP1;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	H	158;193;158;158;59	ENSP00000258733:D158H;ENSP00000371420:D158H;ENSP00000386476:D158H;ENSP00000445266:D59H	ENSP00000258733:D158H	D	+	1	0	GPNMB	23263140	1.000000	0.71417	0.099000	0.21106	0.072000	0.16883	8.443000	0.90320	2.592000	0.87571	0.655000	0.94253	GAT		PASS	0.483	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		64	43	64	43	---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27147774	27147774	+	Silent	SNP	G	G	A	rs140908739		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:27147774G>A	ENST00000396352.4	-	3	1291	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	HOXA3_ENST00000317201.2_Silent_p.P364P|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	364					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P364P(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCACGAAGACGGGGCTTCCCT	0.682																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	uc011jzl.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(1090-1092)CCC>CCT		homeobox A3 isoform a							28.0	25.0	26.0					7																	27147774		2203	4298	6501	SO:0001819	synonymous_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27147774G>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.1092C>T	7.37:g.27147774G>A						HOXA3_uc011jzk.1_Silent_p.P206P|HOXA3_uc003syk.2_Silent_p.P364P	p.P364P	NM_030661	NP_109377	O43365	HXA3_HUMAN			3	1292	-			364					A4D181	Silent	SNP	ENST00000396352.4	37	c.1092C>T	CCDS5404.1																																																																																				PASS	0.682	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			9	4	9	4	---	---	---	---
SUGCT	79783	broad.mit.edu	37	7	40220565	40220565	+	Silent	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:40220565A>G	ENST00000335693.4	+	2	164	c.141A>G	c.(139-141)ccA>ccG	p.P47P	C7orf10_ENST00000401647.2_Silent_p.P47P|C7orf10_ENST00000309930.5_Silent_p.P47P|C7orf10_ENST00000540834.1_Silent_p.P40P	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		47					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)	p.P47P(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATATAAAGCCATTGGAAGGGG	0.294																																						uc003thn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(118-120)CCA>CCG		dermal papilla derived protein 13							255.0	250.0	251.0					7																	40220565		1797	4074	5871	SO:0001819	synonymous_variant	79783						transferase activity	g.chr7:40220565A>G																												ENST00000335693.4:c.141A>G	7.37:g.40220565A>G						C7orf10_uc003thm.1_Silent_p.P47P|C7orf10_uc003tho.1_Silent_p.P40P	p.P40P	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN			2	165	+			47					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Silent	SNP	ENST00000335693.4	37	c.120A>G	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.495|8.495	0.863021|0.863021	0.17178|0.17178	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000416370|ENST00000413931	.|.	.|.	.|.	4.12|4.12	1.58|1.58	0.23477|0.23477	.|.	.|.	.|.	.|.	.|.	T|T	0.52041|0.52041	0.1710|0.1710	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39187|0.39187	-0.9626|-0.9626	4|4	.|.	.|.	.|.	-11.7738|-11.7738	5.4728|5.4728	0.16680|0.16680	0.5476:0.1541:0.0:0.2983|0.5476:0.1541:0.0:0.2983	.|.	.|.	.|.	.|.	R|V	42|59	.|.	.|.	H|I	+|+	2|1	0|0	C7orf10|C7orf10	40187090|40187090	0.598000|0.598000	0.26882|0.26882	0.987000|0.987000	0.45799|0.45799	0.965000|0.965000	0.64279|0.64279	0.064000|0.064000	0.14437|0.14437	0.313000|0.313000	0.23062|0.23062	0.482000|0.482000	0.46254|0.46254	CAT|ATT		PASS	0.294	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			14	188	14	188	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43484986	43484986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:43484986G>T	ENST00000395891.2	+	11	2820	c.2215G>T	c.(2215-2217)Gag>Tag	p.E739*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.E739*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	739					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E718*(1)|p.E739*(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAAGACGACGAGGAGGAGGA	0.642																																						uc003tid.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2215-2217)GAG>TAG		NEDD4-like ubiquitin-protein ligase 1							64.0	70.0	68.0					7																	43484986		2088	4210	6298	SO:0001587	stop_gained	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484986G>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2215G>T	7.37:g.43484986G>T	ENSP00000379228:p.Glu739*					HECW1_uc011kbi.1_Nonsense_Mutation_p.E739*	p.E739*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2820	+			739					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	ENST00000395891.2	37	c.2215G>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	40	7.989247	0.98596	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	4.62	4.62	0.57501	.	0.817539	0.11531	N	0.554707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	17.4549	0.87604	0.0:0.0:1.0:0.0	.	.	.	.	X	739	.	ENSP00000265522:E739X	E	+	1	0	HECW1	43451511	1.000000	0.71417	0.195000	0.23364	0.138000	0.21146	9.545000	0.98095	2.106000	0.64143	0.591000	0.81541	GAG		PASS	0.642	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		6	66	6	66	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48684351	48684351	+	Splice_Site	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:48684351G>A	ENST00000435803.1	+	61	15105		c.e61+1		ABCA13_ENST00000544596.1_Splice_Site	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGGAGCAGGTATAGTATCT	0.343																																						uc003toq.2																			2	Unknown(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.e61+1		ATP binding cassette, sub-family A (ABC1),							79.0	80.0	80.0					7																	48684351		1815	4079	5894	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48684351G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.15081+1G>A	7.37:g.48684351G>A						ABCA13_uc010kys.1_Splice_Site_p.Q2102_splice|ABCA13_uc010kyu.1_Splice_Site_p.Q757_splice	p.Q5027_splice	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			61	15106	+								K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37	c.15081_splice	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037769	0.54896	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4447	0.75220	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA13	48654897	1.000000	0.71417	0.993000	0.49108	0.620000	0.37586	5.566000	0.67372	2.398000	0.81561	0.650000	0.86243	.		PASS	0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Intron	9	143	9	143	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57187718	57187718	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:57187718T>A	ENST00000331162.4	-	5	1674	c.1404A>T	c.(1402-1404)gaA>gaT	p.E468D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E468D(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCCACATTCTTCACATGTGT	0.423																																						uc010kzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1402-1404)GAA>GAT		zinc finger protein 479							52.0	52.0	52.0					7																	57187718		2081	4224	6305	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187718T>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1404A>T	7.37:g.57187718T>A	ENSP00000333776:p.Glu468Asp						p.E468D	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1675	-			468			C2H2-type 11.			Missense_Mutation	SNP	ENST00000331162.4	37	c.1404A>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	10.40	1.338744	0.24253	.	.	ENSG00000185177	ENST00000331162	T	0.07688	3.17	0.955	-1.36	0.09085	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.04297	-0.235	0.09310	N	1	P	0.42078	0.77	P	0.44477	0.451	T	0.37478	-0.9704	9	0.49607	T	0.09	.	3.8902	0.09116	0.3161:0.0:0.0:0.6839	.	468	Q96JC4	ZN479_HUMAN	D	468	ENSP00000333776:E468D	ENSP00000333776:E468D	E	-	3	2	ZNF479	57191660	0.000000	0.05858	0.099000	0.21106	0.094000	0.18550	-6.379000	0.00068	0.378000	0.24764	0.369000	0.22263	GAA		PASS	0.423	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		7	97	7	97	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98506430	98506430	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:98506430G>A	ENST00000359863.4	+	14	1404	c.1195G>A	c.(1195-1197)Gtc>Atc	p.V399I	TRRAP_ENST00000446306.3_Missense_Mutation_p.V399I|TRRAP_ENST00000355540.3_Missense_Mutation_p.V399I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	399					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.V399I(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCCTCGCCGTCCAGCTCTT	0.647																																						uc003upp.2																			2	Substitution - Missense(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(1195-1197)GTC>ATC		transformation/transcription domain-associated							77.0	50.0	59.0					7																	98506430		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98506430G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1195G>A	7.37:g.98506430G>A	ENSP00000352925:p.Val399Ile					TRRAP_uc011kis.1_Missense_Mutation_p.V399I|TRRAP_uc003upr.2_Missense_Mutation_p.V91I	p.V399I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		14	1404	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		399					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.1195G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408393	0.83340	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.63913	3.62;-0.07	5.84	5.84	0.93424	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.72969	0.3527	L	0.48362	1.52	0.80722	D	1	D;D;D	0.57899	0.981;0.968;0.968	P;P;P	0.62184	0.899;0.796;0.796	T	0.67428	-0.5673	10	0.31617	T	0.26	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	399;113;399	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	399	ENSP00000352925:V399I;ENSP00000347733:V399I	ENSP00000347733:V399I	V	+	1	0	TRRAP	98344366	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.625000	0.98406	2.760000	0.94817	0.655000	0.94253	GTC		PASS	0.647	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	11	7	11	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100676069	100676069	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:100676069C>A	ENST00000306151.4	+	3	1436	c.1372C>A	c.(1372-1374)Cct>Act	p.P458T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	458	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P458T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAAGTATGCCTGTCAGCAC	0.498																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(1372-1374)CCT>ACT		mucin 17 precursor							271.0	277.0	275.0					7																	100676069		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676069C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1372C>A	7.37:g.100676069C>A	ENSP00000302716:p.Pro458Thr					MUC17_uc010lho.1_RNA	p.P458T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	1425	+	Lung NSC(181;0.136)|all_lung(186;0.182)		458			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|5.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1372C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.555218	0.00918	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	1.22	-2.44	0.06502	.	.	.	.	.	T	0.01940	0.0061	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49113	-0.8973	9	0.05833	T	0.94	.	1.9774	0.03418	0.1506:0.4317:0.2498:0.1678	.	458	Q685J3	MUC17_HUMAN	T	458	ENSP00000302716:P458T	ENSP00000302716:P458T	P	+	1	0	MUC17	100462789	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.773000	0.00778	-2.390000	0.00586	-0.879000	0.02964	CCT		PASS	0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		169	213	169	213	---	---	---	---
MOGAT3	346606	broad.mit.edu	37	7	100839548	100839548	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:100839548G>T	ENST00000223114.4	-	6	957	c.791C>A	c.(790-792)cCt>cAt	p.P264H	MOGAT3_ENST00000379423.3_Intron|MOGAT3_ENST00000440203.2_Missense_Mutation_p.P264H	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	264					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.P264H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GAAGATGCAAGGAGAGAAGCC	0.582																																						uc003uyc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(790-792)CCT>CAT		monoacylglycerol O-acyltransferase 3							42.0	48.0	46.0					7																	100839548		2203	4299	6502	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100839548G>T	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.791C>A	7.37:g.100839548G>T	ENSP00000223114:p.Pro264His					MOGAT3_uc010lhr.2_Intron	p.P264H	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN			6	958	-	Lung NSC(181;0.168)|all_lung(186;0.215)		264					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.791C>A	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873540	0.51695	.	.	ENSG00000106384	ENST00000223114;ENST00000440203	T;T	0.15834	2.39;2.39	4.85	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.55179	-0.8181	10	0.15499	T	0.54	-7.8094	9.6328	0.39789	0.112:0.0:0.888:0.0	.	264	Q86VF5	MOGT3_HUMAN	H	264	ENSP00000223114:P264H;ENSP00000403756:P264H	ENSP00000223114:P264H	P	-	2	0	MOGAT3	100626268	1.000000	0.71417	0.080000	0.20451	0.467000	0.32768	5.031000	0.64134	0.942000	0.37525	0.650000	0.86243	CCT		PASS	0.582	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		11	16	11	16	---	---	---	---
NAMPT	10135	broad.mit.edu	37	7	105893560	105893560	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:105893560T>C	ENST00000222553.3	-	10	1575	c.1268A>G	c.(1267-1269)aAa>aGa	p.K423R		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	423					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)	p.K423R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TTTGGACCTTTTGTTGGGATC	0.403																																						uc003vdq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1267-1269)AAA>AGA		nicotinamide phosphoribosyltransferase							77.0	76.0	76.0					7																	105893560		2203	4299	6502	SO:0001583	missense	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105893560T>C	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.1268A>G	7.37:g.105893560T>C	ENSP00000222553:p.Lys423Arg						p.K423R	NM_005746	NP_005737	P43490	NAMPT_HUMAN			10	1576	-			423					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	c.1268A>G	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	T	31	5.093660	0.94149	.	.	ENSG00000105835	ENST00000222553	.	.	.	5.36	5.36	0.76844	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.94142	3.5	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.90310	0.4336	9	0.72032	D	0.01	-9.3705	15.638	0.76970	0.0:0.0:0.0:1.0	.	423	P43490	NAMPT_HUMAN	R	423	.	ENSP00000222553:K423R	K	-	2	0	NAMPT	105680796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.244000	0.78228	2.158000	0.67659	0.533000	0.62120	AAA		PASS	0.403	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		37	72	37	72	---	---	---	---
MET	4233	broad.mit.edu	37	7	116411551	116411551	+	Splice_Site	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:116411551G>C	ENST00000318493.6	+	13	2971		c.e13-1		MET_ENST00000397752.3_Splice_Site			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase						apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTCATTTTTAGTGGAAGCAAG	0.368			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		1	Unknown(1)		lung(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.e13-1		met proto-oncogene isoform b precursor							120.0	111.0	114.0					7																	116411551		1846	4093	5939	SO:0001630	splice_region_variant	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116411551G>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2785-1G>C	7.37:g.116411551G>C						MET_uc010lkh.2_Splice_Site_p.W929_splice|MET_uc011knj.1_Splice_Site_p.W481_splice	p.W911_splice	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		13	2918	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)						A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Splice_Site	SNP	ENST00000318493.6	37	c.2731_splice	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415286	0.62511	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000454623	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8005	0.69913	0.0:0.0:0.8559:0.1441	.	.	.	.	.	-1	.	.	.	+	.	.	MET	116198787	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.192000	0.72069	2.802000	0.96397	0.655000	0.94253	.		PASS	0.368	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		Intron	84	159	84	159	---	---	---	---
LMOD2	442721	broad.mit.edu	37	7	123296224	123296224	+	Silent	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:123296224G>T	ENST00000458573.2	+	1	364	c.207G>T	c.(205-207)ctG>ctT	p.L69L	LMOD2_ENST00000456238.2_Silent_p.L69L	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	69	Glu-rich.					cytoskeleton (GO:0005856)		p.L69L(1)									GAGAGGCACTGATGGCCTATT	0.532																																						uc003vky.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(205-207)CTG>CTT		leiomodin 2 (cardiac)							42.0	48.0	46.0					7																	123296224		1869	4091	5960	SO:0001819	synonymous_variant	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123296224G>T	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.207G>T	7.37:g.123296224G>T							p.L69L	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			1	364	+			69			Glu-rich.		A4D0W9|A4D0Y2|Q8WVJ8	Silent	SNP	ENST00000458573.2	37	c.207G>T	CCDS47693.1																																																																																				PASS	0.532	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			12	12	12	12	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141765143	141765143	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:141765143A>T	ENST00000549489.2	+	38	4588	c.4493A>T	c.(4492-4494)cAg>cTg	p.Q1498L	MGAM_ENST00000475668.2_Missense_Mutation_p.Q1498L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1498	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.Q1498L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGAGCCGTGCAGGAGGTGACG	0.607																																						uc003vwy.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(4492-4494)CAG>CTG		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						34.0	37.0	36.0					7																	141765143		2028	4173	6201	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141765143A>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4493A>T	7.37:g.141765143A>T	ENSP00000447378:p.Gln1498Leu						p.Q1498L	NM_004668	NP_004659	O43451	MGA_HUMAN			38	4547	+	Melanoma(164;0.0272)		1498			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4493A>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594324	0.28445	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92495	-3.05	3.82	3.82	0.43975	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.84884	0.5571	L	0.33753	1.03	0.36439	D	0.865404	B	0.27882	0.192	B	0.23716	0.048	T	0.82186	-0.0582	9	0.33141	T	0.24	.	6.8272	0.23891	0.8887:0.0:0.1113:0.0	.	1498	O43451	MGA_HUMAN	L	1498;1498;1375	ENSP00000447378:Q1498L	ENSP00000316431:Q1375L	Q	+	2	0	MGAM	141411612	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	1.672000	0.37523	1.369000	0.46134	0.254000	0.18369	CAG		PASS	0.607	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			5	9	5	9	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143747699	143747699	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:143747699G>C	ENST00000408906.2	+	1	239	c.205G>C	c.(205-207)Gat>Cat	p.D69H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D69H(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GGCCATCATTGATATTTCGTA	0.498																																						uc011ktw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(205-207)GAT>CAT		olfactory receptor, family 2, subfamily A,							97.0	98.0	97.0					7																	143747699		2198	4300	6498	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747699G>C	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.205G>C	7.37:g.143747699G>C	ENSP00000386208:p.Asp69His						p.D69H	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	205	+	Melanoma(164;0.0783)		69			Helical; Name=2; (Potential).		B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.205G>C	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686040	0.68157	.	.	ENSG00000221836	ENST00000408906	T	0.01185	5.21	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12774	0.0310	H	0.97051	3.93	0.51482	D	0.999924	D	0.89917	1.0	D	0.74348	0.983	T	0.01367	-1.1373	9	0.87932	D	0	.	16.4371	0.83880	0.0:0.0:1.0:0.0	.	69	Q96R48	OR2A5_HUMAN	H	69	ENSP00000386208:D69H	ENSP00000386208:D69H	D	+	1	0	OR2A5	143378632	1.000000	0.71417	0.091000	0.20842	0.750000	0.42670	6.361000	0.73070	2.740000	0.93945	0.650000	0.86243	GAT		PASS	0.498	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			84	120	84	120	---	---	---	---
KRBA1	84626	broad.mit.edu	37	7	149418508	149418508	+	Silent	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:149418508G>T	ENST00000485033.2	+	4	348	c.348G>T	c.(346-348)ctG>ctT	p.L116L	KRBA1_ENST00000319551.8_Silent_p.L116L|KRBA1_ENST00000255992.10_Silent_p.L116L|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	116								p.L116L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCGAGGCCTGCTCAGCTGCC	0.627																																						uc003wfz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(346-348)CTG>CTT		KRAB A domain containing 1							32.0	37.0	35.0					7																	149418508		2073	4179	6252	SO:0001819	synonymous_variant	84626							g.chr7:149418508G>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.348G>T	7.37:g.149418508G>T						KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank	p.L116L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	747	+	Melanoma(164;0.165)|Ovarian(565;0.177)		116					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.348G>T		.	.	.	.	.	.	.	.	.	.	G	1.108	-0.659195	0.03454	.	.	ENSG00000133619	ENST00000467333	.	.	.	3.43	3.43	0.39272	.	.	.	.	.	T	0.60366	0.2263	.	.	.	0.49299	D	0.999776	.	.	.	.	.	.	T	0.58470	-0.7631	4	.	.	.	-0.4319	10.5605	0.45142	0.0:0.0:1.0:0.0	.	.	.	.	S	26	.	.	A	+	1	0	KRBA1	149049441	0.163000	0.22920	0.191000	0.23289	0.223000	0.24884	1.309000	0.33539	1.944000	0.56390	0.591000	0.81541	GCT		PASS	0.627	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		4	15	4	15	---	---	---	---
GALNTL5	168391	broad.mit.edu	37	7	151711789	151711789	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:151711789A>G	ENST00000392800.2	+	8	1341	c.1087A>G	c.(1087-1089)Aag>Gag	p.K363E	GALNTL5_ENST00000431418.2_Missense_Mutation_p.K363E	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	363	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.K363E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ACATATCAGTAAGAAACAAAC	0.408																																						uc003wkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1087-1089)AAG>GAG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							163.0	141.0	149.0					7																	151711789		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151711789A>G	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1087A>G	7.37:g.151711789A>G	ENSP00000376548:p.Lys363Glu					GALNTL5_uc003wkq.2_Missense_Mutation_p.K114E|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.K252E	p.K363E	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	8	1310	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	363			Catalytic subdomain B.|Lumenal (Potential).		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.1087A>G	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940705	0.52972	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.63580	-0.05;-0.05	3.64	3.64	0.41730	.	.	.	.	.	T	0.63200	0.2491	M	0.74546	2.27	0.09310	N	1	P;P	0.46784	0.571;0.884	B;B	0.42959	0.403;0.358	T	0.59473	-0.7448	9	0.87932	D	0	.	9.742	0.40424	1.0:0.0:0.0:0.0	.	114;363	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	E	363	ENSP00000392582:K363E;ENSP00000376548:K363E	ENSP00000376548:K363E	K	+	1	0	GALNTL5	151342722	0.002000	0.14202	0.002000	0.10522	0.345000	0.29048	1.641000	0.37197	1.524000	0.49035	0.402000	0.26972	AAG		PASS	0.408	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		66	115	66	115	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12947973	12947973	+	Missense_Mutation	SNP	C	C	T	rs377705483		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr8:12947973C>T	ENST00000276297.4	-	15	4271	c.3862G>A	c.(3862-3864)Gag>Aag	p.E1288K	DLC1_ENST00000358919.2_Missense_Mutation_p.E851K|DLC1_ENST00000520226.1_Missense_Mutation_p.E777K|DLC1_ENST00000512044.2_Missense_Mutation_p.E885K|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1288					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.E1288K(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTCATTTCCTCGGGAACCTGT	0.512																																						uc003wwm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(3862-3864)GAG>AAG		deleted in liver cancer 1 isoform 1		C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	77.0	67.0	71.0		2329,2551,3862	5.1	1.0	8		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	777/1018,851/1092,1288/1529	12947973	1,13005	2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12947973C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3862G>A	8.37:g.12947973C>T	ENSP00000276297:p.Glu1288Lys					DLC1_uc003wwk.1_Missense_Mutation_p.E851K|DLC1_uc003wwl.1_Missense_Mutation_p.E885K|DLC1_uc011kxx.1_Missense_Mutation_p.E777K	p.E1288K	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			15	4306	-			1288					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3862G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077427	0.94000	0.0	1.16E-4	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.06218	3.58;3.34;3.34;3.33	5.06	5.06	0.68205	Rho GTPase activation protein (1);	0.051045	0.85682	D	0.000000	T	0.19366	0.0465	L	0.42581	1.335	0.80722	D	1	P;D;D	0.89917	0.474;0.98;1.0	B;P;D	0.79108	0.087;0.475;0.992	T	0.00284	-1.1848	10	0.40728	T	0.16	.	18.9976	0.92819	0.0:1.0:0.0:0.0	.	1288;885;851	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	K	1288;851;227;885;777	ENSP00000276297:E1288K;ENSP00000351797:E851K;ENSP00000422595:E885K;ENSP00000428028:E777K	ENSP00000276297:E1288K	E	-	1	0	DLC1	12992344	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	5.687000	0.68219	2.802000	0.96397	0.655000	0.94253	GAG		PASS	0.512	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		42	8	42	8	---	---	---	---
XPO7	23039	broad.mit.edu	37	8	21856802	21856802	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr8:21856802C>T	ENST00000252512.9	+	23	2729	c.2629C>T	c.(2629-2631)Cac>Tac	p.H877Y	XPO7_ENST00000434536.1_Missense_Mutation_p.H886Y|XPO7_ENST00000433566.4_Missense_Mutation_p.H878Y	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	877					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)	p.H877Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CTCTATTCCTCACAGTGATCT	0.478																																						uc003xaa.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(2629-2631)CAC>TAC		exportin 7 isoform b							263.0	260.0	261.0					8																	21856802		2125	4254	6379	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21856802C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2629C>T	8.37:g.21856802C>T	ENSP00000252512:p.His877Tyr					XPO7_uc010lti.2_Missense_Mutation_p.H886Y|XPO7_uc010ltk.2_Missense_Mutation_p.H878Y	p.H877Y	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	23	2731	+			877					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.2629C>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947586	0.73787	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.41065	1.01;1.01;1.01	5.83	5.83	0.93111	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	L	0.59436	1.845	0.80722	D	1	P;B;B	0.44195	0.828;0.007;0.007	B;B;B	0.36335	0.222;0.017;0.01	T	0.39941	-0.9589	10	0.02654	T	1	-18.095	19.7825	0.96422	0.0:1.0:0.0:0.0	.	878;886;877	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	Y	886;877;878	ENSP00000404853:H886Y;ENSP00000252512:H877Y;ENSP00000410249:H878Y	ENSP00000252512:H877Y	H	+	1	0	XPO7	21912748	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.815000	0.86186	2.774000	0.95407	0.650000	0.86243	CAC		PASS	0.478	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		166	70	166	70	---	---	---	---
PHYHIP	9796	broad.mit.edu	37	8	22084393	22084393	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr8:22084393C>A	ENST00000321613.3	-	4	767	c.311G>T	c.(310-312)tGg>tTg	p.W104L	PHYHIP_ENST00000454243.2_Missense_Mutation_p.W104L	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	104	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.W104L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		CGTCTCGCTCCAGCCGGACAC	0.647																																						uc003xbk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)TGG>TTG		phytanoyl-CoA 2-hydroxylase interacting protein							93.0	113.0	106.0					8																	22084393		2181	4252	6433	SO:0001583	missense	9796							g.chr8:22084393C>A	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.311G>T	8.37:g.22084393C>A	ENSP00000320017:p.Trp104Leu					PHYHIP_uc003xbj.3_Missense_Mutation_p.W104L	p.W104L	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	4	1005	-			104			Fibronectin type-III.		D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	c.311G>T	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739559	0.89573	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000523252	T;T	0.48201	0.82;0.82	5.62	5.62	0.85841	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.80183	2.485	0.58432	D	0.999999	D	0.52996	0.957	P	0.49683	0.619	T	0.68746	-0.5327	10	0.72032	D	0.01	-9.3142	18.4449	0.90680	0.0:1.0:0.0:0.0	.	104	Q92561	PHYIP_HUMAN	L	104;104;56	ENSP00000320017:W104L;ENSP00000415491:W104L	ENSP00000320017:W104L	W	-	2	0	PHYHIP	22140338	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	7.783000	0.85696	2.645000	0.89757	0.655000	0.94253	TGG		PASS	0.647	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		28	5	28	5	---	---	---	---
FZD3	7976	broad.mit.edu	37	8	28420380	28420380	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr8:28420380C>A	ENST00000240093.3	+	8	2331	c.1853C>A	c.(1852-1854)aCa>aAa	p.T618K	FZD3_ENST00000537916.1_Missense_Mutation_p.T618K	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	618					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.T618K(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TCACGACTAACAGATCACTCC	0.453																																						uc003xgx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1852-1854)ACA>AAA		frizzled 3 precursor							123.0	95.0	104.0					8																	28420380		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28420380C>A	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1853C>A	8.37:g.28420380C>A	ENSP00000240093:p.Thr618Lys					FZD3_uc010lvb.2_Missense_Mutation_p.T618K	p.T618K	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	8	2331	+		Ovarian(32;2.06e-05)	618			Cytoplasmic (Potential).		A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.1853C>A	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746067	0.30955	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.75938	-0.98;-0.98	5.35	5.35	0.76521	.	0.216065	0.45361	D	0.000362	T	0.60340	0.2261	N	0.24115	0.695	0.36685	D	0.879246	B	0.29716	0.255	B	0.19148	0.024	T	0.65676	-0.6110	10	0.45353	T	0.12	.	14.8875	0.70582	0.1438:0.8562:0.0:0.0	.	618	Q9NPG1	FZD3_HUMAN	K	618	ENSP00000437489:T618K;ENSP00000240093:T618K	ENSP00000240093:T618K	T	+	2	0	FZD3	28476299	0.997000	0.39634	0.085000	0.20634	0.875000	0.50365	3.732000	0.55021	2.667000	0.90743	0.591000	0.81541	ACA		PASS	0.453	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		31	8	31	8	---	---	---	---
SARAF	51669	broad.mit.edu	37	8	29927553	29927553	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr8:29927553T>C	ENST00000256255.6	-	3	562	c.305A>G	c.(304-306)gAt>gGt	p.D102G	TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		102					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.D102G(1)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GTATGCAATATCTAAGTCCGT	0.383																																						uc003xhs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GAT>GGT		transmembrane protein 66 precursor							144.0	158.0	153.0					8																	29927553		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29927553T>C																												ENST00000256255.6:c.305A>G	8.37:g.29927553T>C	ENSP00000256255:p.Asp102Gly					TMEM66_uc003xht.2_Missense_Mutation_p.D102G|TMEM66_uc003xhu.2_Missense_Mutation_p.D66G|TMEM66_uc003xhv.2_5'UTR	p.D102G	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	3	489	-			102					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.305A>G	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.28|14.28	2.488095|2.488095	0.44249|0.44249	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000256255;ENST00000541035;ENST00000522794;ENST00000523761|ENST00000521265	T;T;T|.	0.54479|.	0.57;0.57;0.57|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.093068|.	0.64402|.	D|.	0.000001|.	T|T	0.77301|0.77301	0.4110|0.4110	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	D;P|.	0.56035|.	0.974;0.884|.	P;P|.	0.59703|.	0.862;0.709|.	T|T	0.79296|0.79296	-0.1862|-0.1862	10|5	0.54805|.	T|.	0.06|.	-21.925|-21.925	14.1592|14.1592	0.65436|0.65436	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	102;102|.	B3KQQ4;Q96BY9|.	.;TMM66_HUMAN|.	G|V	102;66;66;93|102	ENSP00000256255:D102G;ENSP00000429630:D66G;ENSP00000428832:D93G|.	ENSP00000256255:D102G|.	D|I	-|-	2|1	0|0	TMEM66|TMEM66	30047095|30047095	1.000000|1.000000	0.71417|0.71417	0.288000|0.288000	0.24862|0.24862	0.343000|0.343000	0.28985|0.28985	5.874000|5.874000	0.69652|0.69652	2.240000|2.240000	0.73641|0.73641	0.477000|0.477000	0.44152|0.44152	GAT|ATA		PASS	0.383	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			4	227	4	227	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35606132	35606132	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr8:35606132G>T	ENST00000404895.2	+	12	2182	c.1854G>T	c.(1852-1854)ttG>ttT	p.L618F	UNC5D_ENST00000420357.1_Missense_Mutation_p.L551F|UNC5D_ENST00000416672.1_Missense_Mutation_p.L623F|UNC5D_ENST00000453357.2_Missense_Mutation_p.L613F|UNC5D_ENST00000449677.1_Missense_Mutation_p.L194F|UNC5D_ENST00000287272.2_Missense_Mutation_p.L549F	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	618	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.L613F(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCTTTGCATTGACCATCCCGC	0.507																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1852-1854)TTG>TTT		unc-5 homolog D precursor							187.0	156.0	167.0					8																	35606132		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35606132G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1854G>T	8.37:g.35606132G>T	ENSP00000385143:p.Leu618Phe					UNC5D_uc003xjs.1_Missense_Mutation_p.L613F|UNC5D_uc003xju.1_Missense_Mutation_p.L194F	p.L618F	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	2182	+			618			ZU5.|Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1854G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767029	0.90020	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22	6.07	5.2	0.72013	ZU5 (2);	0.158422	0.56097	D	0.000039	T	0.75004	0.3791	M	0.82323	2.585	0.58432	D	0.99999	D;D;D	0.61080	0.989;0.96;0.989	P;P;P	0.59357	0.856;0.59;0.773	T	0.80037	-0.1550	10	0.87932	D	0	-13.5107	15.2691	0.73686	0.067:0.0:0.933:0.0	.	194;613;618	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	F	618;551;549;623;613;194	ENSP00000385143:L618F;ENSP00000392739:L551F;ENSP00000287272:L549F;ENSP00000412652:L623F;ENSP00000394303:L613F;ENSP00000397211:L194F	ENSP00000287272:L549F	L	+	3	2	UNC5D	35725674	1.000000	0.71417	0.993000	0.49108	0.898000	0.52572	6.256000	0.72473	1.567000	0.49668	0.655000	0.94253	TTG		PASS	0.507	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			133	135	133	135	---	---	---	---
SGK3	23678	broad.mit.edu	37	8	67755686	67755686	+	Splice_Site	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr8:67755686G>C	ENST00000396596.1	+	14	1192		c.e14-1		SGK3_ENST00000345714.4_Splice_Site|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000521435.1_Splice_Site|C8orf44-SGK3_ENST00000519289.1_Splice_Site|SGK3_ENST00000522398.1_Splice_Site|SGK3_ENST00000521198.2_Splice_Site	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3						ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.?(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTTTCTATAGTATCTTGCAC	0.308																																						uc003xwr.2																			2	Unknown(2)		lung(2)	ovary(1)|large_intestine(1)|lung(1)|breast(1)	4						c.e14-1		serum/glucocorticoid regulated kinase 3 isoform							112.0	108.0	109.0					8																	67755686		2203	4300	6503	SO:0001630	splice_region_variant	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67755686G>C		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.979-1G>C	8.37:g.67755686G>C						SGK3_uc003xwp.2_Splice_Site_p.Y321_splice|SGK3_uc003xwt.2_Splice_Site_p.Y327_splice|SGK3_uc003xwu.2_Intron	p.Y327_splice	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		14	1278	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)						A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Splice_Site	SNP	ENST00000396596.1	37	c.979_splice	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214851	0.79352	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000396596;ENST00000345714	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8932	0.92413	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGK3	67918240	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.799000	0.99117	2.522000	0.85027	0.555000	0.69702	.		PASS	0.308	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3		Intron	4	152	4	152	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113649187	113649187	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr8:113649187T>A	ENST00000297405.5	-	22	3818	c.3574A>T	c.(3574-3576)Agt>Tgt	p.S1192C	CSMD3_ENST00000352409.3_Missense_Mutation_p.S1192C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1152C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1088C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1192	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1192C(1)|p.S1152C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCGATTCGACTACCATATTGA	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3574-3576)AGT>TGT		CUB and Sushi multiple domains 3 isoform 1							199.0	173.0	182.0					8																	113649187		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113649187T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3574A>T	8.37:g.113649187T>A	ENSP00000297405:p.Ser1192Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S464C|CSMD3_uc003ynt.2_Missense_Mutation_p.S1152C|CSMD3_uc011lhx.1_Missense_Mutation_p.S1088C	p.S1192C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			22	3733	-			1192			Sushi 6.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3574A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711401	0.48517	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.56	4.37	0.52481	Complement control module (2);Sushi/SCR/CCP (3);	0.738165	0.13280	N	0.399818	T	0.77896	0.4199	M	0.85197	2.74	0.09310	N	1	P;P;P	0.43607	0.488;0.812;0.623	B;P;P	0.51016	0.363;0.656;0.579	T	0.67122	-0.5750	10	0.35671	T	0.21	.	12.5192	0.56050	0.0:0.0:0.1396:0.8604	.	1088;1192;1152	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	1152;1192;532;1088;1192	ENSP00000345799:S1152C;ENSP00000297405:S1192C;ENSP00000341558:S532C;ENSP00000412263:S1088C;ENSP00000343124:S1192C	ENSP00000297405:S1192C	S	-	1	0	CSMD3	113718363	0.024000	0.19004	0.993000	0.49108	0.823000	0.46562	1.223000	0.32527	0.899000	0.36444	0.528000	0.53228	AGT		PASS	0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	179	5	179	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139838952	139838952	+	Silent	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr8:139838952C>T	ENST00000303045.6	-	6	1364	c.918G>A	c.(916-918)cgG>cgA	p.R306R	COL22A1_ENST00000435777.1_Silent_p.R306R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	306	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R306R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGTCTTCCTTCCGAGAGGTTT	0.507										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(916-918)CGG>CGA		collagen, type XXII, alpha 1							152.0	125.0	134.0					8																	139838952		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139838952C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.918G>A	8.37:g.139838952C>T		HNSCC(7;0.00092)					p.R306R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		6	1365	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		306			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.918G>A	CCDS6376.1																																																																																				PASS	0.507	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		95	22	95	22	---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141810641	141810641	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr8:141810641G>A	ENST00000522684.1	-	12	1239	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	PTK2_ENST00000521059.1_Missense_Mutation_p.A337V|PTK2_ENST00000340930.3_Missense_Mutation_p.A337V|PTK2_ENST00000517887.1_Missense_Mutation_p.A381V|PTK2_ENST00000395218.2_Missense_Mutation_p.A337V|PTK2_ENST00000519419.1_Missense_Mutation_p.A381V|PTK2_ENST00000535192.1_Missense_Mutation_p.A337V|PTK2_ENST00000538769.1_5'UTR	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	337	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.A359V(2)|p.A337V(2)|p.A247V(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CATATTCTCCGCAATGGTTAG	0.483																																						uc003yvu.2																			6	Substitution - Missense(6)		lung(3)|endometrium(3)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1009-1011)GCG>GTG		PTK2 protein tyrosine kinase 2 isoform a							114.0	101.0	105.0					8																	141810641		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141810641G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1010C>T	8.37:g.141810641G>A	ENSP00000429911:p.Ala337Val					PTK2_uc011ljq.1_5'UTR|PTK2_uc003yvp.2_5'UTR|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Missense_Mutation_p.A236V|PTK2_uc003yvs.2_Missense_Mutation_p.A337V|PTK2_uc003yvt.2_Missense_Mutation_p.A359V|PTK2_uc003yvv.2_Missense_Mutation_p.A224V|PTK2_uc011ljr.1_Missense_Mutation_p.A337V	p.A337V	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		12	1240	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	337			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1010C>T	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	36	5.879425	0.97062	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000523539;ENST00000340930;ENST00000519419;ENST00000521986;ENST00000342207	T;T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	6.02	6.02	0.97574	FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.943;0.998;0.969;0.993;0.969	T	0.60131	-0.7323	10	0.72032	D	0.01	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	337;244;337;359;337;248	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6	.;.;FAK1_HUMAN;.;.;.	V	337;337;381;337;247;337;244;2;337;381;1;155	ENSP00000429911:A337V;ENSP00000438009:A337V;ENSP00000429082:A381V;ENSP00000429474:A337V;ENSP00000378644:A337V;ENSP00000428492:A2V;ENSP00000341189:A337V;ENSP00000429129:A381V;ENSP00000430603:A1V	ENSP00000341189:A337V	A	-	2	0	PTK2	141879823	1.000000	0.71417	0.427000	0.26684	0.977000	0.68977	8.918000	0.92759	2.865000	0.98341	0.655000	0.94253	GCG		PASS	0.483	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		4	134	4	134	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37740726	37740726	+	Missense_Mutation	SNP	C	C	T	rs147406379	byFrequency	TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr9:37740726C>T	ENST00000539465.1	+	15	2794	c.2201C>T	c.(2200-2202)cCg>cTg	p.P734L	FRMPD1_ENST00000536622.1_Missense_Mutation_p.P556L|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P734L|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.P603L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	734						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.P734L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGGGGAGCCCCGCCAGCCTGG	0.652													C|||	17	0.00339457	0.0083	0.0	5008	,	,		17536	0.0		0.001	False		,,,				2504	0.0051					uc004aag.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(2200-2202)CCG>CTG		FERM and PDZ domain containing 1		C	LEU/PRO	22,4384	29.0+/-57.7	0,22,2181	28.0	26.0	27.0		2201	-4.1	0.0	9	dbSNP_134	27	5,8593	4.3+/-15.6	0,5,4294	yes	missense	FRMPD1	NM_014907.2	98	0,27,6475	TT,TC,CC		0.0582,0.4993,0.2076	benign	734/1579	37740726	27,12977	2203	4299	6502	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740726C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2201C>T	9.37:g.37740726C>T	ENSP00000444411:p.Pro734Leu					FRMPD1_uc004aah.1_Missense_Mutation_p.P734L|FRMPD1_uc011lqm.1_Missense_Mutation_p.P556L|FRMPD1_uc011lqn.1_Missense_Mutation_p.P603L	p.P734L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2245	+			734					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2201C>T	CCDS6612.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	3.131	-0.178430	0.06380	0.004993	5.82E-4	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.17370	3.26;3.26;2.28;2.29	5.53	-4.1	0.03940	.	0.715942	0.13400	N	0.390716	T	0.04497	0.0123	N	0.12746	0.255	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.32981	-0.9886	10	0.25751	T	0.34	0.0257	6.0073	0.19553	0.1601:0.2757:0.0:0.5642	.	603;734	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	L	734;734;556;603	ENSP00000366995:P734L;ENSP00000444411:P734L;ENSP00000437762:P556L;ENSP00000444804:P603L	ENSP00000366995:P734L	P	+	2	0	FRMPD1	37730726	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-1.572000	0.02136	-0.533000	0.06323	-0.136000	0.14681	CCG		PASS	0.652	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		24	16	24	16	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79318347	79318347	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr9:79318347G>T	ENST00000376718.3	-	9	8305	c.8182C>A	c.(8182-8184)Cca>Aca	p.P2728T	PRUNE2_ENST00000428286.1_Missense_Mutation_p.P2369T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2728					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.P2728T(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACAGGCTGTGGTGAAAGCATT	0.512																																						uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(8182-8184)CCA>ACA		prune homolog 2							110.0	92.0	98.0					9																	79318347		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318347G>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8182C>A	9.37:g.79318347G>T	ENSP00000365908:p.Pro2728Thr					PRUNE2_uc004akj.3_Missense_Mutation_p.P181T|PRUNE2_uc010mpl.1_Missense_Mutation_p.P181T	p.P2728T	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			9	8306	-			2728					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.8182C>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.01|18.01	3.528679|3.528679	0.64860|0.64860	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.52526|.	0.66;0.67|.	5.71|5.71	3.85|3.85	0.44370|0.44370	.|.	0.117610|.	0.38959|.	N|.	0.001502|.	T|T	0.61173|0.61173	0.2326|0.2326	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.996;1.0|.	D;D|.	0.69307|.	0.922;0.963|.	T|T	0.57602|0.57602	-0.7783|-0.7783	10|5	0.72032|.	D|.	0.01|.	-9.6964|-9.6964	6.6145|6.6145	0.22769|0.22769	0.1478:0.0:0.7071:0.1451|0.1478:0.0:0.7071:0.1451	.|.	2728;2728|.	Q8WUY3-3;Q8WUY3|.	.;PRUN2_HUMAN|.	T|N	2728;2369;2727|2049	ENSP00000365908:P2728T;ENSP00000397425:P2369T|.	ENSP00000365908:P2728T|.	P|T	-|-	1|2	0|0	PRUNE2|PRUNE2	78508167|78508167	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	3.749000|3.749000	0.55150|0.55150	0.744000|0.744000	0.32741|0.32741	0.591000|0.591000	0.81541|0.81541	CCA|ACC		PASS	0.512	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		75	60	75	60	---	---	---	---
BAAT	570	broad.mit.edu	37	9	104125029	104125029	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr9:104125029A>G	ENST00000395051.3	-	3	1008	c.938T>C	c.(937-939)aTt>aCt	p.I313T	BAAT_ENST00000259407.2_Missense_Mutation_p.I313T			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	313					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)	p.I313T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGCCTCTTCAATAGGAAACAA	0.448																																						uc010mtd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(937-939)ATT>ACT		bile acid Coenzyme A: amino acid	Glycine(DB00145)						109.0	107.0	108.0					9																	104125029		2203	4300	6503	SO:0001583	missense	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104125029A>G	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.938T>C	9.37:g.104125029A>G	ENSP00000378491:p.Ile313Thr					BAAT_uc004bbd.3_Missense_Mutation_p.I313T	p.I313T	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN			4	1047	-		Acute lymphoblastic leukemia(62;0.0559)	313					Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	c.938T>C	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945588	0.34377	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.33216	1.42;1.42	4.96	3.83	0.44106	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.445695	0.21499	N	0.073542	T	0.43389	0.1245	M	0.76838	2.35	0.26624	N	0.972601	P	0.47677	0.899	P	0.50231	0.635	T	0.39623	-0.9605	10	0.87932	D	0	-12.7541	8.8289	0.35072	0.9116:0.0:0.0884:0.0	.	313	Q14032	BAAT_HUMAN	T	313	ENSP00000259407:I313T;ENSP00000378491:I313T	ENSP00000259407:I313T	I	-	2	0	BAAT	103164850	0.138000	0.22547	0.624000	0.29186	0.069000	0.16628	4.143000	0.58051	0.918000	0.36919	0.533000	0.62120	ATT		PASS	0.448	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			91	101	91	101	---	---	---	---
ZFP37	7539	broad.mit.edu	37	9	115818962	115818962	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr9:115818962C>G	ENST00000374227.3	-	1	34	c.7G>C	c.(7-9)Gtc>Ctc	p.V3L	ZFP37_ENST00000553380.1_Missense_Mutation_p.V3L|ZFP37_ENST00000555206.1_Missense_Mutation_p.V3L	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V3L(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCGCTGGAGACCGACATGGCG	0.662																																						uc004bgm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(7-9)GTC>CTC		zinc finger protein 37 homolog							56.0	56.0	56.0					9																	115818962		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115818962C>G	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.7G>C	9.37:g.115818962C>G	ENSP00000363344:p.Val3Leu					ZFP37_uc011lwz.1_Missense_Mutation_p.V3L|ZFP37_uc011lxa.1_Missense_Mutation_p.V3L	p.V3L	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			1	35	-			3					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.7G>C	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	c	17.92	3.505970	0.64410	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05382	3.49;3.45;3.55	3.19	3.19	0.36642	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.21697	N	0.99959	B;B;B	0.22683	0.073;0.073;0.043	B;B;B	0.22601	0.04;0.04;0.018	T	0.41142	-0.9525	9	0.10636	T	0.68	.	10.161	0.42851	0.0:1.0:0.0:0.0	.	3;3;3	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	L	3	ENSP00000363344:V3L;ENSP00000451310:V3L;ENSP00000452552:V3L	ENSP00000363344:V3L	V	-	1	0	ZFP37	114858783	0.898000	0.30612	0.659000	0.29680	0.534000	0.34807	1.330000	0.33781	2.074000	0.62210	0.558000	0.71614	GTC		PASS	0.662	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		27	37	27	37	---	---	---	---
OLFML2A	169611	broad.mit.edu	37	9	127572392	127572392	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr9:127572392G>A	ENST00000373580.3	+	8	1660	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	OLFML2A_ENST00000288815.5_Missense_Mutation_p.D340N	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	554	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)	p.D554N(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GAGTCGCTTGGACCCCGGCGA	0.652																																						uc004bov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1660-1662)GAC>AAC		olfactomedin-like 2A precursor							51.0	52.0	52.0					9																	127572392		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127572392G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1660G>A	9.37:g.127572392G>A	ENSP00000362682:p.Asp554Asn					OLFML2A_uc004bow.2_Missense_Mutation_p.D340N	p.D554N	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN			8	1773	+			554			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1660G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803192	0.31869	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	D;D	0.89270	-2.49;-2.49	6.07	6.07	0.98685	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.88040	0.6330	N	0.12746	0.255	0.80722	D	1	B;D	0.89917	0.264;1.0	B;D	0.97110	0.327;1.0	T	0.81355	-0.0970	10	0.02654	T	1	.	19.6321	0.95713	0.0:0.0:1.0:0.0	.	340;554	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	N	246;554;340	ENSP00000362682:D554N;ENSP00000288815:D340N	ENSP00000288815:D340N	D	+	1	0	OLFML2A	126612213	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.818000	0.69236	2.884000	0.98904	0.655000	0.94253	GAC		PASS	0.652	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		31	46	31	46	---	---	---	---
NCS1	23413	broad.mit.edu	37	9	132984952	132984952	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr9:132984952G>A	ENST00000372398.3	+	5	417	c.331G>A	c.(331-333)Gac>Aac	p.D111N	NCS1_ENST00000458469.1_Missense_Mutation_p.D93N	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	111	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion transmembrane transport (GO:0070588)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of exocytosis (GO:0045921)|regulation of neuron projection development (GO:0010975)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|voltage-gated calcium channel activity (GO:0005245)	p.D111N(1)		large_intestine(1)|lung(4)|stomach(1)	6						CTACGACTTGGACAATGATGG	0.567																																					Melanoma(30;182 1162 22581 33240)	uc004bzi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)GAC>AAC		frequenin homolog isoform 1							146.0	116.0	126.0					9																	132984952		2203	4300	6503	SO:0001583	missense	23413				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding	g.chr9:132984952G>A	AF186409	CCDS6932.1	9q34.11	2013-01-10	2010-01-27	2010-01-27	ENSG00000107130	ENSG00000107130		"""EF-hand domain containing"""	3953	protein-coding gene	gene with protein product		603315	"""frequenin (Drosophila) homolog"", ""frequenin homolog (Drosophila)"""	FREQ		11092894	Standard	NM_014286		Approved	NCS-1	uc004bzi.2	P62166	OTTHUMG00000020801	ENST00000372398.3:c.331G>A	9.37:g.132984952G>A	ENSP00000361475:p.Asp111Asn					NCS1_uc010myz.1_Missense_Mutation_p.D93N	p.D111N	NM_014286	NP_055101	P62166	NCS1_HUMAN			5	417	+			111			EF-hand 3.|2.		E9PAY3|P36610|Q9UK26	Missense_Mutation	SNP	ENST00000372398.3	37	c.331G>A	CCDS6932.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357098	0.82243	.	.	ENSG00000107130	ENST00000372398;ENST00000458469	T;T	0.72394	-0.65;-0.65	5.23	5.23	0.72850	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75042	0.3796	L	0.31294	0.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68804	-0.5312	10	0.12430	T	0.62	.	17.7894	0.88547	0.0:0.0:1.0:0.0	.	93;111	E9PAY3;P62166	.;NCS1_HUMAN	N	111;93	ENSP00000361475:D111N;ENSP00000404103:D93N	ENSP00000361475:D111N	D	+	1	0	NCS1	132024773	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	9.542000	0.98086	2.444000	0.82710	0.563000	0.77884	GAC		PASS	0.567	NCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054637.1	NM_014286		28	40	28	40	---	---	---	---
KCNT1	57582	broad.mit.edu	37	9	138669314	138669314	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr9:138669314C>G	ENST00000263604.3	+	21	2423	c.2423C>G	c.(2422-2424)tCc>tGc	p.S808C	KCNT1_ENST00000487664.1_Missense_Mutation_p.S782C|KCNT1_ENST00000490355.2_Missense_Mutation_p.S806C|KCNT1_ENST00000298480.5_Missense_Mutation_p.S827C|KCNT1_ENST00000371757.2_Missense_Mutation_p.S827C|KCNT1_ENST00000488444.2_Missense_Mutation_p.S808C|KCNT1_ENST00000486577.2_Missense_Mutation_p.S786C|KCNT1_ENST00000491806.2_Missense_Mutation_p.S794C			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	808					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S827C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TACTACAGATCCCGCAAGGAG	0.627																																						uc011mdq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|pancreas(1)	4						c.(2479-2481)TCC>TGC		potassium channel, subfamily T, member 1							84.0	70.0	75.0					9																	138669314		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138669314C>G	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2423C>G	9.37:g.138669314C>G	ENSP00000263604:p.Ser808Cys					KCNT1_uc011mdr.1_Missense_Mutation_p.S654C|KCNT1_uc010nbf.2_Missense_Mutation_p.S782C|KCNT1_uc004cgo.1_Missense_Mutation_p.S576C	p.S827C	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	21	2554	+		Myeloproliferative disorder(178;0.0821)	827					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2480C>G		.	.	.	.	.	.	.	.	.	.	C	14.74	2.626407	0.46840	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.37	4.37	0.52481	.	0.136258	0.50627	U	0.000102	T	0.81621	0.4861	L	0.52573	1.65	0.50313	D	0.999869	P;D;D;P	0.55172	0.928;0.97;0.957;0.928	P;P;P;P	0.54346	0.566;0.566;0.749;0.566	D	0.84533	0.0634	10	0.72032	D	0.01	-22.8942	16.9291	0.86184	0.0:1.0:0.0:0.0	.	794;827;782;808	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	C	782;827;827;786;794;808;806;808	ENSP00000417851:S782C;ENSP00000298480:S827C;ENSP00000360822:S827C;ENSP00000263604:S808C	ENSP00000263604:S808C	S	+	2	0	KCNT1	137809135	0.918000	0.31147	0.043000	0.18650	0.628000	0.37860	7.643000	0.83403	1.971000	0.57363	0.555000	0.69702	TCC		PASS	0.627	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		28	41	28	41	---	---	---	---
UBAC1	10422	broad.mit.edu	37	9	138838190	138838190	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr9:138838190C>T	ENST00000371756.3	-	5	686	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	UBAC1_ENST00000465873.1_5'Flank	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	157					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.V157M(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		ATGAGAGACACCAGTATCTTC	0.473																																					NSCLC(78;973 1398 27381 29552 42415)	uc004cgt.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(469-471)GTG>ATG		ubiquitin associated domain containing 1							102.0	95.0	98.0					9																	138838190		2203	4300	6503	SO:0001583	missense	10422					Golgi apparatus|plasma membrane	protein binding	g.chr9:138838190C>T	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"""ubiquitin associated domain containing 1"""	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.469G>A	9.37:g.138838190C>T	ENSP00000360821:p.Val157Met					UBAC1_uc004cgs.1_Missense_Mutation_p.V157M|UBAC1_uc004cgu.2_RNA	p.V157M	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)	5	687	-		Myeloproliferative disorder(178;0.0511)	157					O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	37	c.469G>A	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591209	0.46214	.	.	ENSG00000130560	ENST00000371756	T	0.28454	1.61	5.11	3.18	0.36537	.	0.115379	0.64402	D	0.000017	T	0.46502	0.1396	M	0.64404	1.975	0.80722	D	1	D	0.65815	0.995	D	0.63703	0.917	T	0.28202	-1.0051	10	0.42905	T	0.14	-34.0338	10.5372	0.45011	0.144:0.6948:0.1612:0.0	.	157	Q9BSL1	UBAC1_HUMAN	M	157	ENSP00000360821:V157M	ENSP00000360821:V157M	V	-	1	0	UBAC1	137978011	1.000000	0.71417	0.936000	0.37596	0.329000	0.28539	4.255000	0.58804	0.476000	0.27440	0.561000	0.74099	GTG		PASS	0.473	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172		49	54	49	54	---	---	---	---
INPP5E	56623	broad.mit.edu	37	9	139327487	139327487	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr9:139327487C>G	ENST00000371712.3	-	5	1602	c.1200G>C	c.(1198-1200)caG>caC	p.Q400H		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.Q400H(1)		NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TGGTCTTGATCTGAGACACGA	0.602																																						uc004cho.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1198-1200)CAG>CAC		inositol polyphosphate-5-phosphatase E							179.0	162.0	168.0					9																	139327487		2201	4299	6500	SO:0001583	missense	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139327487C>G	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1200G>C	9.37:g.139327487C>G	ENSP00000360777:p.Gln400His					INPP5E_uc010nbm.2_Missense_Mutation_p.Q400H	p.Q400H	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	5	1585	-		Myeloproliferative disorder(178;0.0511)	400					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.1200G>C	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664693	0.29604	.	.	ENSG00000148384	ENST00000371712	D	0.95103	-3.61	4.88	0.533	0.17121	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.125138	0.56097	N	0.000037	D	0.88819	0.6540	L	0.43554	1.36	0.52099	D	0.999942	B;B	0.13594	0.008;0.001	B;B	0.13407	0.009;0.002	T	0.77960	-0.2391	10	0.21540	T	0.41	-17.4681	7.7944	0.29140	0.0:0.5212:0.3207:0.1581	.	366;400	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	H	400	ENSP00000360777:Q400H	ENSP00000360777:Q400H	Q	-	3	2	INPP5E	138447308	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	0.738000	0.26158	0.191000	0.20236	0.561000	0.74099	CAG		PASS	0.602	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		21	30	21	30	---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139366443	139366443	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr9:139366443C>T	ENST00000371706.3	-	2	3187	c.3154G>A	c.(3154-3156)Gaa>Aaa	p.E1052K	SEC16A_ENST00000431893.2_Missense_Mutation_p.E1052K|SEC16A_ENST00000290037.6_Missense_Mutation_p.E1052K|SEC16A_ENST00000313050.7_Missense_Mutation_p.E1230K			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1052	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.E1230K(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTGGCCGTTCCGAGGAGTGG	0.632																																						uc004chx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(3688-3690)GAA>AAA		SEC16 homolog A							32.0	42.0	39.0					9																	139366443		1962	4135	6097	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139366443C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3154G>A	9.37:g.139366443C>T	ENSP00000360771:p.Glu1052Lys					SEC16A_uc004chv.3_Missense_Mutation_p.E620K|SEC16A_uc004chw.2_Missense_Mutation_p.E1230K|SEC16A_uc010nbn.2_Missense_Mutation_p.E1230K	p.E1230K	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	4	3997	-		Myeloproliferative disorder(178;0.0511)	1052			Required for endoplasmic reticulum localization.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.3688G>A		.	.	.	.	.	.	.	.	.	.	C	17.31	3.358393	0.61403	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	4.5	4.5	0.54988	.	0.104626	0.64402	D	0.000006	T	0.19485	0.0468	L	0.29908	0.895	0.80722	D	1	P;P;P;P	0.48764	0.651;0.804;0.763;0.915	B;B;B;B	0.39152	0.078;0.292;0.229;0.237	T	0.03043	-1.1079	10	0.32370	T	0.25	-26.801	16.7041	0.85367	0.0:1.0:0.0:0.0	.	1230;1052;1052;620	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	K	1230;1052;1052;1052;620;154	ENSP00000325827:E1230K;ENSP00000360771:E1052K;ENSP00000290037:E1052K;ENSP00000387583:E1052K	ENSP00000290037:E1052K	E	-	1	0	SEC16A	138486264	1.000000	0.71417	0.937000	0.37676	0.320000	0.28249	6.247000	0.72411	2.510000	0.84645	0.561000	0.74099	GAA		PASS	0.632	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		24	18	24	18	---	---	---	---
FAM21A	387680	broad.mit.edu	37	10	51892656	51892656	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr10:51892656A>T	ENST00000282633.5	+	31	4022	c.3977A>T	c.(3976-3978)aAg>aTg	p.K1326M	FAM21A_ENST00000314664.7_Missense_Mutation_p.K1264M|FAM21A_ENST00000351071.6_Missense_Mutation_p.K1305M|FAM21A_ENST00000399339.2_Missense_Mutation_p.K1238M	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1326					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.K1326M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						TTTGAACACAAGGTGTCCAAC	0.473																																						uc001jjb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3976-3978)AAG>ATG		hypothetical protein LOC387680							21.0	19.0	20.0					10																	51892656		1756	3678	5434	SO:0001583	missense	387680				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:51892656A>T	BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.3977A>T	10.37:g.51892656A>T	ENSP00000282633:p.Lys1326Met					FAM21A_uc001jja.1_Intron|FAM21A_uc010qhi.1_Missense_Mutation_p.K1305M|FAM21A_uc010qhj.1_Missense_Mutation_p.K1264M|FAM21B_uc009xoq.2_Missense_Mutation_p.K1238M	p.K1326M	NM_001005751	NP_001005751	Q641Q2	FA21A_HUMAN			31	4059	+			1326					A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	c.3977A>T	CCDS41527.1	.	.	.	.	.	.	.	.	.	.	a	13.88	2.368509	0.42003	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000282633;ENST00000399339	.	.	.	3.72	3.72	0.42706	.	0.288241	0.39544	N	0.001332	T	0.62841	0.2461	M	0.73598	2.24	0.29138	N	0.879212	D;D;D;D	0.69078	0.997;0.993;0.963;0.997	P;P;P;P	0.62435	0.897;0.866;0.473;0.902	T	0.61865	-0.6975	9	0.87932	D	0	-9.7969	10.7077	0.45965	1.0:0.0:0.0:0.0	.	1264;1305;1238;1326	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2	.;.;.;FA21A_HUMAN	M	1305;1264;1326;1238	.	ENSP00000282633:K1326M	K	+	2	0	FAM21A	51562662	1.000000	0.71417	0.888000	0.34837	0.168000	0.22595	6.340000	0.72973	1.448000	0.47680	0.155000	0.16302	AAG		PASS	0.473	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		32	15	32	15	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81061960	81061960	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr10:81061960A>G	ENST00000334512.5	+	18	2688	c.2116A>G	c.(2116-2118)Atc>Gtc	p.I706V		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	706					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.I706V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGAGCACTGTATCACGAAAAG	0.617																																						uc001kaf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2116-2118)ATC>GTC		retinoic acid induced 17							66.0	64.0	65.0					10																	81061960		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81061960A>G	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2116A>G	10.37:g.81061960A>G	ENSP00000334474:p.Ile706Val					ZMIZ1_uc001kag.2_Missense_Mutation_p.I582V	p.I706V	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		18	2688	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		706					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2116A>G	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168566	0.57584	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.32753	1.44	5.51	5.51	0.81932	.	0.000000	0.42294	D	0.000740	T	0.21186	0.0510	N	0.10874	0.06	0.80722	D	1	B	0.30146	0.27	B	0.37091	0.241	T	0.12682	-1.0538	10	0.16896	T	0.51	-19.0367	15.6328	0.76926	1.0:0.0:0.0:0.0	.	706	Q9ULJ6	ZMIZ1_HUMAN	V	706;636;611	ENSP00000334474:I706V	ENSP00000334474:I706V	I	+	1	0	ZMIZ1	80731966	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.903000	0.92573	2.084000	0.62774	0.459000	0.35465	ATC		PASS	0.617	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	68	9	68	---	---	---	---
DNTT	1791	broad.mit.edu	37	10	98078223	98078223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr10:98078223G>A	ENST00000371174.2	+	2	420	c.318G>A	c.(316-318)tgG>tgA	p.W106*	DNTT_ENST00000419175.1_Nonsense_Mutation_p.W106*			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	106	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.W106*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		ATGTCTCCTGGCTGATCGAAT	0.478																																						uc001kmf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(316-318)TGG>TGA		terminal deoxynucleotidyltransferase isoform 1							147.0	135.0	139.0					10																	98078223		2203	4300	6503	SO:0001587	stop_gained	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98078223G>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.318G>A	10.37:g.98078223G>A	ENSP00000360216:p.Trp106*					DNTT_uc001kmg.2_Nonsense_Mutation_p.W106*	p.W106*	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	2	488	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	106			BRCT.		Q53FH1|Q5W103|Q96E50	Nonsense_Mutation	SNP	ENST00000371174.2	37	c.318G>A	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	36	5.659214	0.96734	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8528	17.1615	0.86804	0.0:0.0:1.0:0.0	.	.	.	.	X	106	.	ENSP00000360216:W106X	W	+	3	0	DNTT	98068213	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	7.127000	0.77210	2.656000	0.90262	0.563000	0.77884	TGG		PASS	0.478	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		70	30	70	30	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115423110	115423110	+	Splice_Site	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr10:115423110C>A	ENST00000359988.3	-	2	412		c.e2+1		NRAP_ENST00000369358.4_Splice_Site|NRAP_ENST00000369360.3_Splice_Site|NRAP_ENST00000360478.3_Splice_Site	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.?(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAAACACTTACGCGTGACAGT	0.398																																						uc001laj.2																			1	Unknown(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.e2+1		nebulin-related anchoring protein isoform S							102.0	94.0	97.0					10																	115423110		2203	4300	6503	SO:0001630	splice_region_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115423110C>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.167+1G>T	10.37:g.115423110C>A						NRAP_uc001lak.2_Splice_Site_p.A56_splice|NRAP_uc001lal.3_Splice_Site_p.A56_splice	p.A56_splice	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	2	331	-		Colorectal(252;0.0233)|Breast(234;0.188)							Splice_Site	SNP	ENST00000359988.3	37	c.167_splice	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071981	0.76301	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7951	0.96477	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRAP	115413100	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.238000	0.78173	2.698000	0.92095	0.561000	0.74099	.		PASS	0.398	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	Intron	26	12	26	12	---	---	---	---
OR51B2	79345	broad.mit.edu	37	11	5345298	5345298	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:5345298G>C	ENST00000328813.2	-	1	284	c.230C>G	c.(229-231)cCt>cGt	p.P77R	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P77R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTACAGTAGGCATCGTGGT	0.493																																						uc001mao.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(229-231)CCT>CGT		olfactory receptor, family 51, subfamily B,							121.0	102.0	108.0					11																	5345298		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345298G>C	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.230C>G	11.37:g.5345298G>C	ENSP00000327540:p.Pro77Arg					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.P77R	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	285	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	77			Extracellular (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.230C>G	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762724	0.49574	.	.	ENSG00000184881	ENST00000328813	T	0.25749	1.78	4.39	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	U	0.001743	T	0.66287	0.2774	H	0.99249	4.485	0.36391	D	0.862496	D	0.89917	1.0	D	0.74674	0.984	T	0.81575	-0.0870	10	0.72032	D	0.01	.	11.2372	0.48946	0.09:0.0:0.91:0.0	.	77	Q9Y5P1	O51B2_HUMAN	R	77	ENSP00000327540:P77R	ENSP00000327540:P77R	P	-	2	0	OR51B2	5301874	1.000000	0.71417	0.981000	0.43875	0.600000	0.36913	4.616000	0.61197	1.097000	0.41459	0.644000	0.83932	CCT		PASS	0.493	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		43	58	43	58	---	---	---	---
OR52B2	255725	broad.mit.edu	37	11	6191107	6191107	+	Silent	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:6191107G>A	ENST00000530810.1	-	1	531	c.450C>T	c.(448-450)gtC>gtT	p.V150V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V150V(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCGGGTGATGACGGCCAGAG	0.507																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(448-450)GTC>GTT		olfactory receptor, family 52, subfamily B,							61.0	62.0	62.0					11																	6191107		2155	4264	6419	SO:0001819	synonymous_variant	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191107G>A	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.450C>T	11.37:g.6191107G>A							p.V150V	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	450	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	150			Helical; Name=4; (Potential).		Q8NGM7	Silent	SNP	ENST00000530810.1	37	c.450C>T	CCDS53598.1																																																																																				PASS	0.507	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		17	35	17	35	---	---	---	---
HPS5	11234	broad.mit.edu	37	11	18320386	18320386	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:18320386C>A	ENST00000349215.3	-	10	1394	c.1117G>T	c.(1117-1119)Gct>Tct	p.A373S	HPS5_ENST00000438420.2_Missense_Mutation_p.A259S|HPS5_ENST00000396253.3_Missense_Mutation_p.A259S|HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000531848.1_Missense_Mutation_p.A259S	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	373					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.A373S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTACGAGCAGCCAAGTTCCAT	0.463									Hermansky-Pudlak syndrome																													uc001mod.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1117-1119)GCT>TCT		Hermansky-Pudlak syndrome 5 isoform a							157.0	146.0	150.0					11																	18320386		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18320386C>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1117G>T	11.37:g.18320386C>A	ENSP00000265967:p.Ala373Ser					HPS5_uc001moe.1_Missense_Mutation_p.A259S|HPS5_uc001mof.1_Missense_Mutation_p.A259S	p.A373S	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			10	1395	-			373					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.1117G>T	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656884	0.88154	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.61742	0.08;0.08;0.09;1.27	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75059	-0.3451	10	0.59425	D	0.04	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	373	Q9UPZ3	HPS5_HUMAN	S	259;259;373;259	ENSP00000379552:A259S;ENSP00000399590:A259S;ENSP00000265967:A373S;ENSP00000431758:A259S	ENSP00000265967:A373S	A	-	1	0	HPS5	18276962	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	7.320000	0.79064	2.861000	0.98227	0.655000	0.94253	GCT		PASS	0.463	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		81	137	81	137	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	20805279	20805279	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:20805279C>G	ENST00000357134.5	+	3	390	c.238C>G	c.(238-240)Ctg>Gtg	p.L80V	NELL1_ENST00000325319.5_Missense_Mutation_p.L80V|NELL1_ENST00000298925.5_Missense_Mutation_p.L108V|NELL1_ENST00000532434.1_Missense_Mutation_p.L80V	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	80	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.L80V(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATTAATTCAGCTGTTCCGGAA	0.458																																						uc001mqe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(238-240)CTG>GTG		nel-like 1 isoform 1 precursor							114.0	105.0	108.0					11																	20805279		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20805279C>G	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.238C>G	11.37:g.20805279C>G	ENSP00000349654:p.Leu80Val					NELL1_uc001mqf.2_Missense_Mutation_p.L80V|NELL1_uc009yid.2_Missense_Mutation_p.L108V|NELL1_uc010rdo.1_Missense_Mutation_p.L80V|NELL1_uc010rdp.1_5'UTR	p.L80V	NM_006157	NP_006148	Q92832	NELL1_HUMAN			3	391	+			80					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.238C>G	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187591	0.57909	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.02177	4.41;4.41;4.41;4.41	5.9	3.74	0.42951	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.08670	0.0215	L	0.57536	1.79	0.40904	D	0.984172	D;D;P;D	0.71674	0.998;0.997;0.936;0.997	D;D;P;D	0.83275	0.996;0.991;0.492;0.991	T	0.06716	-1.0811	10	0.41790	T	0.15	-9.5183	10.6506	0.45647	0.0:0.8223:0.0:0.1777	.	80;108;80;80	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	V	108;80;80;80	ENSP00000298925:L108V;ENSP00000349654:L80V;ENSP00000317837:L80V;ENSP00000437170:L80V	ENSP00000298925:L108V	L	+	1	2	NELL1	20761855	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.499000	0.45372	0.610000	0.30035	0.655000	0.94253	CTG		PASS	0.458	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		39	63	39	63	---	---	---	---
OR4X2	119764	broad.mit.edu	37	11	48266819	48266819	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:48266819T>C	ENST00000302329.3	+	1	212	c.164T>C	c.(163-165)cTc>cCc	p.L55P		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L55P(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TACTTCTTCCTCAGCTACCTC	0.493																																						uc001ngs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)CTC>CCC		olfactory receptor, family 4, subfamily X,							184.0	170.0	175.0					11																	48266819		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266819T>C	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.164T>C	11.37:g.48266819T>C	ENSP00000307751:p.Leu55Pro						p.L55P	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	164	+			55			Helical; Name=2; (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.164T>C	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.817728	0.71028	.	.	ENSG00000172208	ENST00000302329	T	0.14893	2.47	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000195	T	0.59998	0.2235	H	0.98936	4.375	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.76637	-0.2886	10	0.87932	D	0	.	13.3324	0.60495	0.0:0.0:0.0:1.0	.	55	Q8NGF9	OR4X2_HUMAN	P	55	ENSP00000307751:L55P	ENSP00000307751:L55P	L	+	2	0	OR4X2	48223395	0.985000	0.35326	0.979000	0.43373	0.919000	0.55068	7.900000	0.87376	2.020000	0.59435	0.528000	0.53228	CTC		PASS	0.493	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		13	195	13	195	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890765	55890765	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:55890765A>T	ENST00000313472.3	+	1	917	c.917A>T	c.(916-918)cAg>cTg	p.Q306L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q306L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AGAGTCATGCAGAGAAGACAG	0.353																																						uc001nii.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(916-918)CAG>CTG		olfactory receptor, family 8, subfamily H,							82.0	87.0	86.0					11																	55890765		2201	4295	6496	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890765A>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.917A>T	11.37:g.55890765A>T	ENSP00000323928:p.Gln306Leu						p.Q306L	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	917	+	Esophageal squamous(21;0.00693)		306			Cytoplasmic (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.917A>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	A	8.513	0.866986	0.17250	.	.	ENSG00000181761	ENST00000313472	T	0.35421	1.31	3.62	3.62	0.41486	.	1.778100	0.02796	N	0.122651	T	0.27169	0.0666	N	0.21097	0.63	0.09310	N	1	P	0.41420	0.749	B	0.37780	0.258	T	0.19418	-1.0306	10	0.35671	T	0.21	.	6.6492	0.22953	0.7692:0.0:0.0:0.2308	.	306	Q8N146	OR8H3_HUMAN	L	306	ENSP00000323928:Q306L	ENSP00000323928:Q306L	Q	+	2	0	OR8H3	55647341	0.000000	0.05858	0.041000	0.18516	0.609000	0.37215	-1.289000	0.02780	1.415000	0.47037	0.145000	0.16022	CAG		PASS	0.353	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		29	134	29	134	---	---	---	---
OR4D6	219983	broad.mit.edu	37	11	59224643	59224643	+	Silent	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:59224643C>T	ENST00000300127.2	+	1	233	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D70D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CAGTCCTGGACATCGTTTTTT	0.458																																						uc010rku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(208-210)GAC>GAT		olfactory receptor, family 4, subfamily D,							144.0	122.0	129.0					11																	59224643		2201	4295	6496	SO:0001819	synonymous_variant	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224643C>T	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.210C>T	11.37:g.59224643C>T							p.D70D	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	210	+			70			Helical; Name=2; (Potential).		B2RNP7|Q6IFF5|Q96R74	Silent	SNP	ENST00000300127.2	37	c.210C>T	CCDS31562.1																																																																																				PASS	0.458	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		58	101	58	101	---	---	---	---
HNRNPUL2	221092	broad.mit.edu	37	11	62490111	62490111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:62490111G>A	ENST00000301785.5	-	6	1249	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	HNRNPUL2-BSCL2_ENST00000403734.2_Nonsense_Mutation_p.Q353*	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	353	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q353*(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAAAAGTCTGGCCAAATTCC	0.438																																						uc001nuw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1057-1059)CAG>TAG		heterogeneous nuclear ribonucleoprotein U-like							152.0	136.0	141.0					11																	62490111		1927	4136	6063	SO:0001587	stop_gained	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62490111G>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1057C>T	11.37:g.62490111G>A	ENSP00000301785:p.Gln353*					HNRNPUL2_uc001nuu.1_RNA	p.Q353*	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN			6	1250	-			353			B30.2/SPRY.		Q8N3B3	Nonsense_Mutation	SNP	ENST00000301785.5	37	c.1057C>T	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	G	36	5.848538	0.97023	.	.	ENSG00000214753	ENST00000301785	.	.	.	5.3	4.37	0.52481	.	0.129345	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-18.1274	12.1472	0.54029	0.0:0.3327:0.6673:0.0	.	.	.	.	X	353	.	ENSP00000301785:Q353X	Q	-	1	0	HNRNPUL2	62246687	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.858000	0.55979	1.424000	0.47217	0.650000	0.86243	CAG		PASS	0.438	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		80	96	80	96	---	---	---	---
MACROD1	28992	broad.mit.edu	37	11	63767113	63767113	+	Splice_Site	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:63767113C>A	ENST00000255681.6	-	6	853		c.e6+1		OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.?(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CCGTCCCTCACCACCGAGCGG	0.716																																						uc001nyh.2																			1	Unknown(1)		lung(1)		0						c.e6+1		MACRO domain containing 1							9.0	12.0	11.0					11																	63767113		2162	4236	6398	SO:0001630	splice_region_variant	28992							g.chr11:63767113C>A	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.786+1G>T	11.37:g.63767113C>A							p.V262_splice	NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN			6	905	-								Q9UH96	Splice_Site	SNP	ENST00000255681.6	37	c.786_splice	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983172	0.34942	.	.	ENSG00000133315	ENST00000255681	.	.	.	3.77	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4488	0.50140	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MACROD1	63523689	1.000000	0.71417	0.868000	0.34077	0.290000	0.27261	4.869000	0.63028	1.841000	0.53522	0.313000	0.20887	.		PASS	0.716	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067	Intron	4	6	4	6	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71725724	71725724	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:71725724G>A	ENST00000393695.3	-	15	3156	c.2825C>T	c.(2824-2826)gCg>gTg	p.A942V	NUMA1_ENST00000358965.6_Missense_Mutation_p.A942V|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.A942V(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCCTGCCCTCGCAGGCTCCTT	0.637			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(2824-2826)GCG>GTG		nuclear mitotic apparatus protein 1							50.0	55.0	53.0					11																	71725724		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725724G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2825C>T	11.37:g.71725724G>A	ENSP00000377298:p.Ala942Val					NUMA1_uc009ysw.1_Missense_Mutation_p.A505V|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.A942V|NUMA1_uc001orn.2_Missense_Mutation_p.A505V|NUMA1_uc009ysx.1_Missense_Mutation_p.A942V|NUMA1_uc001oro.1_Missense_Mutation_p.A942V	p.A942V	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			15	2997	-			942			Potential.			Missense_Mutation	SNP	ENST00000393695.3	37	c.2825C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585612	0.13749	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652	T;T	0.12255	2.7;2.7	5.69	-0.165	0.13355	.	0.789446	0.11722	N	0.535762	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B;B;B;B	0.20780	0.004;0.048;0.004;0.004	B;B;B;B	0.16289	0.001;0.015;0.001;0.001	T	0.42413	-0.9453	9	.	.	.	.	3.2266	0.06734	0.1395:0.3925:0.2723:0.1957	.	948;426;942;942	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	V	942;942;505	ENSP00000351851:A942V;ENSP00000377298:A942V	.	A	-	2	0	NUMA1	71403372	0.000000	0.05858	0.004000	0.12327	0.338000	0.28826	-0.309000	0.08145	0.297000	0.22615	-0.176000	0.13171	GCG		PASS	0.637	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			4	105	4	105	---	---	---	---
PICALM	8301	broad.mit.edu	37	11	85707960	85707960	+	Silent	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:85707960C>T	ENST00000393346.3	-	12	1315	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L	PICALM_ENST00000532317.1_Silent_p.L389L|PICALM_ENST00000528398.1_Silent_p.L338L|PICALM_ENST00000526033.1_Silent_p.L389L|PICALM_ENST00000356360.5_Silent_p.L389L			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	389					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)	p.L389L(1)		endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GATCATTGGGCAGCTTTGATG	0.413			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	uc001pbm.2				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	MLLT10|MLL		TALL|AML|		1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)|ovary(1)	2						c.(1165-1167)CTG>CTA		phosphatidylinositol-binding clathrin assembly							111.0	98.0	102.0					11																	85707960		2203	4299	6502	SO:0001819	synonymous_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85707960C>T	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1167G>A	11.37:g.85707960C>T						PICALM_uc001pbl.2_Silent_p.L389L|PICALM_uc001pbn.2_Silent_p.L389L|PICALM_uc010rtl.1_Silent_p.L338L|PICALM_uc010rtk.1_Silent_p.L21L|PICALM_uc001pbo.1_Silent_p.L21L	p.L389L	NM_007166	NP_009097	Q13492	PICAL_HUMAN			12	1453	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	389					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	c.1167G>A	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.006|9.006	0.981327|0.981327	0.18812|0.18812	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000529760;ENST00000526961;ENST00000530542|ENST00000529016	.|.	.|.	.|.	5.72|5.72	4.76|4.76	0.60689|0.60689	.|.	.|.	.|.	.|.	.|.	T|T	0.59851|0.59851	0.2224|0.2224	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57458|0.57458	-0.7808|-0.7808	4|4	.|.	.|.	.|.	-3.8321|-3.8321	9.2083|9.2083	0.37302|0.37302	0.0:0.8814:0.0:0.1186|0.0:0.8814:0.0:0.1186	.|.	.|.	.|.	.|.	T|Y	92;5;92|86	.|.	.|.	A|C	-|-	1|2	0|0	PICALM|PICALM	85385608|85385608	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	2.845000|2.845000	0.48254|0.48254	1.263000|1.263000	0.44181|0.44181	0.655000|0.655000	0.94253|0.94253	GCC|TGC		PASS	0.413	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		54	49	54	49	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92523317	92523317	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:92523317C>T	ENST00000298047.6	+	7	4561	c.4544C>T	c.(4543-4545)aCt>aTt	p.T1515I	FAT3_ENST00000525166.1_Missense_Mutation_p.T1365I|FAT3_ENST00000409404.2_Missense_Mutation_p.T1515I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1515	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1515I(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACCCTAGCACTGGCGTGCTC	0.483										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(4543-4545)ACT>ATT		FAT tumor suppressor homolog 3							166.0	162.0	163.0					11																	92523317		2053	4205	6258	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523317C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4544C>T	11.37:g.92523317C>T	ENSP00000298047:p.Thr1515Ile	TCGA Ovarian(4;0.039)					p.T1515I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			7	4561	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1515			Cadherin 14.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4544C>T		.	.	.	.	.	.	.	.	.	.	C	21.1	4.098896	0.76870	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01767	4.65;4.65;4.65	6.17	6.17	0.99709	.	.	.	.	.	T	0.09818	0.0241	H	0.98218	4.175	0.80722	D	1	B	0.32573	0.376	B	0.26202	0.067	T	0.06023	-1.0850	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1515	Q8TDW7-3	.	I	1515;1515;1365	ENSP00000298047:T1515I;ENSP00000387040:T1515I;ENSP00000432586:T1365I	ENSP00000298047:T1515I	T	+	2	0	FAT3	92162965	0.924000	0.31332	0.966000	0.40874	0.938000	0.57974	3.044000	0.49830	2.941000	0.99782	0.655000	0.94253	ACT		PASS	0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		80	227	80	227	---	---	---	---
GPR83	10888	broad.mit.edu	37	11	94113620	94113620	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:94113620T>C	ENST00000243673.2	-	4	1138	c.967A>G	c.(967-969)Aac>Gac	p.N323D	GPR83_ENST00000539203.2_Missense_Mutation_p.N281D	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	323					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.N323D(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGGCATTGTTGGTGCGGATG	0.527																																						uc001pet.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(967-969)AAC>GAC		G protein-coupled receptor 83 precursor							159.0	129.0	139.0					11																	94113620		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113620T>C	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.967A>G	11.37:g.94113620T>C	ENSP00000243673:p.Asn323Asp						p.N323D	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			4	1139	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	323			Extracellular (Potential).		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.967A>G	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.398703	0.42512	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.54279	0.58;0.58	5.75	5.75	0.90469	GPCR, rhodopsin-like superfamily (1);	0.137390	0.64402	D	0.000005	T	0.42966	0.1226	L	0.28115	0.83	0.53688	D	0.999972	B	0.21381	0.055	B	0.25987	0.065	T	0.28038	-1.0056	10	0.36615	T	0.2	.	14.8785	0.70513	0.0:0.0:0.0:1.0	.	323	Q9NYM4	GPR83_HUMAN	D	323;281	ENSP00000243673:N323D;ENSP00000441550:N281D	ENSP00000243673:N323D	N	-	1	0	GPR83	93753268	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.119000	0.71590	2.195000	0.70347	0.533000	0.62120	AAC		PASS	0.527	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		160	86	160	86	---	---	---	---
ANGPTL5	253935	broad.mit.edu	37	11	101765763	101765763	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:101765763A>G	ENST00000334289.3	-	8	1289	c.694T>C	c.(694-696)Tat>Cat	p.Y232H		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	232	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.Y232H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TTTACTATATAAAAAATCTTT	0.264																																						uc001pgl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(694-696)TAT>CAT		angiopoietin-like 5 precursor							35.0	38.0	37.0					11																	101765763		2192	4293	6485	SO:0001583	missense	253935				signal transduction	extracellular space	receptor binding	g.chr11:101765763A>G	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.694T>C	11.37:g.101765763A>G	ENSP00000335255:p.Tyr232His						p.Y232H	NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	8	1290	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	232			Fibrinogen C-terminal.		A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	c.694T>C	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	A	9.369	1.069920	0.20147	.	.	ENSG00000187151	ENST00000334289;ENST00000534527	T;T	0.76709	-1.04;-1.04	5.38	4.24	0.50183	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.284712	0.41001	D	0.000972	T	0.54111	0.1838	N	0.11845	0.185	0.25532	N	0.987267	B	0.14805	0.011	B	0.12156	0.007	T	0.33624	-0.9861	10	0.17832	T	0.49	.	4.0304	0.09706	0.6682:0.1335:0.0705:0.1278	.	232	Q86XS5	ANGL5_HUMAN	H	232;167	ENSP00000335255:Y232H;ENSP00000433562:Y167H	ENSP00000335255:Y232H	Y	-	1	0	ANGPTL5	101270973	1.000000	0.71417	0.999000	0.59377	0.836000	0.47400	2.258000	0.43249	0.850000	0.35239	-0.341000	0.08007	TAT		PASS	0.264	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		61	51	61	51	---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122795604	122795604	+	Splice_Site	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr11:122795604G>T	ENST00000531316.1	+	3	956		c.e3-1		RNU4-23P_ENST00000362839.1_RNA|C11orf63_ENST00000227349.2_Splice_Site			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63						axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		tACCTACCTAGATCTCCTACC	0.443																																						uc001pym.2																			1	Unknown(1)		lung(1)	ovary(3)	3						c.e4-1		hypothetical protein LOC79864 isoform 1							171.0	145.0	154.0					11																	122795604		2202	4299	6501	SO:0001630	splice_region_variant	79864							g.chr11:122795604G>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.865-1G>T	11.37:g.122795604G>T							p.I289_splice	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	4	1162	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)						A8K6G0|Q96GB5|Q9H5D6	Splice_Site	SNP	ENST00000531316.1	37	c.865_splice	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	g	12.40	1.927531	0.34002	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	.	.	.	5.98	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8152	0.57660	0.0:0.0:0.8364:0.1636	.	.	.	.	.	-1	.	.	.	+	.	.	C11orf63	122300814	1.000000	0.71417	0.978000	0.43139	0.365000	0.29674	3.985000	0.56930	1.554000	0.49487	-0.216000	0.12614	.		PASS	0.443	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	Intron	7	83	7	83	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	406233	406233	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:406233G>A	ENST00000399788.2	-	25	4570	c.4208C>T	c.(4207-4209)tCt>tTt	p.S1403F	KDM5A_ENST00000382815.4_Missense_Mutation_p.S1403F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1403					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S1403F(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGAAGCAGAAGAATAAGCATG	0.398			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(4207-4209)TCT>TTT		retinoblastoma binding protein 2 isoform 1							60.0	58.0	59.0					12																	406233		1867	4105	5972	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:406233G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4208C>T	12.37:g.406233G>A	ENSP00000382688:p.Ser1403Phe					KDM5A_uc001qie.1_Missense_Mutation_p.S1403F	p.S1403F	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			25	4571	-			1403					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.4208C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500833	0.64298	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.88201	-2.35;-2.16	5.65	5.65	0.86999	.	0.073163	0.56097	D	0.000025	D	0.91123	0.7205	N	0.22421	0.69	0.58432	D	0.999999	D;D	0.69078	0.995;0.997	D;D	0.80764	0.986;0.994	D	0.92365	0.5900	10	0.87932	D	0	-15.0732	19.7243	0.96157	0.0:0.0:1.0:0.0	.	1403;1403	P29375;P29375-2	KDM5A_HUMAN;.	F	1403	ENSP00000382688:S1403F;ENSP00000372265:S1403F	ENSP00000372265:S1403F	S	-	2	0	KDM5A	276494	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.836000	0.99456	2.647000	0.89833	0.655000	0.94253	TCT		PASS	0.398	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		17	40	17	40	---	---	---	---
FOXJ2	55810	broad.mit.edu	37	12	8197386	8197386	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:8197386G>A	ENST00000162391.3	+	6	1794	c.649G>A	c.(649-651)Gca>Aca	p.A217T	FOXJ2_ENST00000428177.2_Missense_Mutation_p.A217T	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	217					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.A217T(1)		autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TGGAGCAGTGGCAGCAGGGGC	0.502																																						uc001qtu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(649-651)GCA>ACA		forkhead box J2							116.0	117.0	117.0					12																	8197386		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8197386G>A	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.649G>A	12.37:g.8197386G>A	ENSP00000162391:p.Ala217Thr					FOXJ2_uc001qtt.1_Missense_Mutation_p.A217T	p.A217T	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	6	1734	+			217					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.649G>A	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004911	0.35415	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95069	-3.42;-3.6	5.5	3.62	0.41486	.	0.382752	0.25071	N	0.033374	D	0.89305	0.6677	L	0.44542	1.39	0.26853	N	0.968114	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.75847	-0.3173	10	0.18710	T	0.47	.	7.3325	0.26590	0.0906:0.17:0.7395:0.0	.	217;217	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	T	217	ENSP00000162391:A217T;ENSP00000403411:A217T	ENSP00000162391:A217T	A	+	1	0	FOXJ2	8088653	1.000000	0.71417	0.997000	0.53966	0.904000	0.53231	2.609000	0.46317	0.658000	0.30925	0.491000	0.48974	GCA		PASS	0.502	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		66	60	66	60	---	---	---	---
A2M	2	broad.mit.edu	37	12	9230374	9230374	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:9230374G>T	ENST00000318602.7	-	26	3506	c.3199C>A	c.(3199-3201)Ctc>Atc	p.L1067I	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1067					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.L1067I(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGCCATATGAGGGCTTGGGTA	0.498																																						uc001qvk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(3199-3201)CTC>ATC		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						123.0	126.0	125.0					12																	9230374		2203	4300	6503	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9230374G>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3199C>A	12.37:g.9230374G>T	ENSP00000323929:p.Leu1067Ile					A2M_uc001qvj.1_Missense_Mutation_p.L109I|A2M_uc009zgk.1_Missense_Mutation_p.L917I	p.L1067I	NM_000014	NP_000005	P01023	A2MG_HUMAN			26	3312	-			1067					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.3199C>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919398	0.52653	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.35421	1.31	5.76	3.91	0.45181	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.175935	0.36444	N	0.002591	T	0.49321	0.1550	M	0.72479	2.2	0.09310	N	1	D	0.55800	0.973	P	0.59643	0.861	T	0.43669	-0.9377	10	0.72032	D	0.01	.	5.5225	0.16941	0.2146:0.0:0.6429:0.1425	.	1067	P01023	A2MG_HUMAN	I	1067;1082	ENSP00000323929:L1067I	ENSP00000323929:L1067I	L	-	1	0	A2M	9121641	0.905000	0.30787	0.822000	0.32727	0.793000	0.44817	1.130000	0.31393	0.751000	0.32900	-0.224000	0.12420	CTC		PASS	0.498	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		38	62	38	62	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21015494	21015494	+	Splice_Site	SNP	T	T	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:21015494T>A	ENST00000381545.3	+	7	847		c.e7+2		LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Splice_Site|LST3_ENST00000540229.1_Splice_Site|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Splice_Site	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGTATTTAGGTAACGTACAGA	0.318																																						uc001rek.2																			1	Unknown(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.e6+2		solute carrier organic anion transporter family,							86.0	86.0	86.0					12																	21015494		2203	4300	6503	SO:0001630	splice_region_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21015494T>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.628+2T>A	12.37:g.21015494T>A						SLCO1B3_uc001rel.2_Splice_Site_p.G210_splice|SLCO1B3_uc010sil.1_Splice_Site_p.G210_splice|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Splice_Site_p.G35_splice	p.G210_splice	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			6	754	+	Esophageal squamous(101;0.149)							E7EMT8|Q5JAR4	Splice_Site	SNP	ENST00000381545.3	37	c.628_splice	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	T	8.383	0.838073	0.16891	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	.	.	.	3.9	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7374	0.57232	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1B3;RP11-545J16.1	20906761	1.000000	0.71417	0.927000	0.36925	0.179000	0.23085	5.810000	0.69179	1.415000	0.47037	0.377000	0.23210	.		PASS	0.318	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	Intron	40	95	40	95	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29423457	29423457	+	Silent	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:29423457G>T	ENST00000536681.3	+	2	321	c.75G>T	c.(73-75)gtG>gtT	p.V25V	FAR2_ENST00000182377.4_Silent_p.V25V|FAR2_ENST00000547116.1_Intron	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	25					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.V25V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TGGGCAAAGTGCTGATGGAGA	0.522																																						uc001ris.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(73-75)GTG>GTT		fatty acyl CoA reductase 2							78.0	77.0	77.0					12																	29423457		2203	4300	6503	SO:0001819	synonymous_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29423457G>T	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.75G>T	12.37:g.29423457G>T						FAR2_uc001rit.2_Silent_p.V25V|FAR2_uc009zjm.2_Intron	p.V25V	NM_018099	NP_060569	Q96K12	FACR2_HUMAN			2	222	+			25					F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	37	c.75G>T	CCDS8717.1																																																																																				PASS	0.522	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		34	47	34	47	---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31237560	31237560	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:31237560A>G	ENST00000407793.2	+	4	688	c.437A>G	c.(436-438)cAg>cGg	p.Q146R	DDX11_ENST00000542838.1_Missense_Mutation_p.Q146R|DDX11_ENST00000228264.6_Missense_Mutation_p.Q120R|DDX11_ENST00000545668.1_Missense_Mutation_p.Q146R|DDX11_ENST00000350437.4_Missense_Mutation_p.Q146R|DDX11_ENST00000251758.5_Missense_Mutation_p.Q146R	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	146	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.Q146R(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGCCTGCAGCAGCTGCAGCAC	0.587										Multiple Myeloma(12;0.14)																												uc001rjt.1																			2	Substitution - Missense(2)		lung(2)	breast(3)	3						c.(436-438)CAG>CGG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							28.0	29.0	28.0					12																	31237560		2200	4270	6470	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31237560A>G	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.437A>G	12.37:g.31237560A>G	ENSP00000384703:p.Gln146Arg	Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_Missense_Mutation_p.Q146R|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.Q146R|DDX11_uc001rjs.1_Missense_Mutation_p.Q146R|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.Q146R|DDX11_uc001rjw.1_Missense_Mutation_p.Q120R	p.Q146R	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			4	688	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		146			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.437A>G	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	A	2.463	-0.323646	0.05350	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000415475;ENST00000545668;ENST00000350437;ENST00000535317	T;T;T;T;T;T;T;T	0.03152	4.03;4.03;4.03;4.03;4.03;4.03;4.03;4.03	3.97	1.43	0.22495	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.277055	0.34156	N	0.004220	T	0.02083	0.0065	L	0.29908	0.895	0.29593	N	0.848308	P;B;P;P	0.40731	0.728;0.329;0.617;0.617	B;B;B;B	0.33960	0.138;0.095;0.173;0.173	T	0.43909	-0.9362	10	0.17369	T	0.5	.	4.2654	0.10761	0.7192:0.0:0.1037:0.1771	.	146;146;146;146	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	R	146;146;146;120;120;146;146;182	ENSP00000443426:Q146R;ENSP00000384703:Q146R;ENSP00000251758:Q146R;ENSP00000228264:Q120R;ENSP00000406457:Q120R;ENSP00000440402:Q146R;ENSP00000309965:Q146R;ENSP00000440171:Q182R	ENSP00000228264:Q120R	Q	+	2	0	DDX11	31128827	0.998000	0.40836	0.462000	0.27118	0.089000	0.18198	1.932000	0.40143	0.172000	0.19760	0.352000	0.21897	CAG		PASS	0.587	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		8	9	8	9	---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33579334	33579334	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:33579334C>A	ENST00000228567.3	-	2	544	c.248G>T	c.(247-249)tGc>tTc	p.C83F	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	83					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.C83F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCTTTTCCAGCATGGCCAACA	0.438																																						uc001rll.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(247-249)TGC>TTC		synaptotagmin X							72.0	70.0	71.0					12																	33579334		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33579334C>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.248G>T	12.37:g.33579334C>A	ENSP00000228567:p.Cys83Phe					SYT10_uc009zju.1_5'UTR	p.C83F	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			2	545	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		83			Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.248G>T	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591457	0.28357	.	.	ENSG00000110975	ENST00000228567	T	0.41400	1.0	3.86	2.96	0.34315	.	0.337088	0.21014	N	0.081625	T	0.27489	0.0675	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10636	-1.0621	10	0.62326	D	0.03	.	8.7721	0.34740	0.1705:0.6645:0.1649:0.0	.	83	Q6XYQ8	SYT10_HUMAN	F	83	ENSP00000228567:C83F	ENSP00000228567:C83F	C	-	2	0	SYT10	33470601	0.987000	0.35691	1.000000	0.80357	0.999000	0.98932	1.122000	0.31295	1.200000	0.43188	0.655000	0.94253	TGC		PASS	0.438	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		43	57	43	57	---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41966881	41966881	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:41966881C>A	ENST00000402685.2	+	10	2308	c.2300C>A	c.(2299-2301)aCc>aAc	p.T767N	PDZRN4_ENST00000298919.7_Missense_Mutation_p.T507N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.T509N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	767							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T509N(1)|p.T767N(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATCAACCTCACCAATAAGAAA	0.512																																						uc010skn.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1702-1704)ACC>AAC		PDZ domain containing RING finger 4 isoform 2							99.0	97.0	98.0					12																	41966881		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966881C>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2300C>A	12.37:g.41966881C>A	ENSP00000384197:p.Thr767Asn					PDZRN4_uc001rmq.3_Missense_Mutation_p.T509N|PDZRN4_uc009zjz.2_Missense_Mutation_p.T507N|PDZRN4_uc001rmr.2_Missense_Mutation_p.T394N	p.T568N	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1771	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	767					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1703C>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660070	0.47572	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72282	-0.64;3.84;3.83	5.34	5.34	0.76211	.	0.352879	0.27609	N	0.018613	D	0.82449	0.5039	M	0.78916	2.43	0.80722	D	1	D;P;B	0.76494	0.999;0.889;0.171	D;P;B	0.65684	0.937;0.562;0.055	T	0.76534	-0.2924	10	0.10111	T	0.7	-22.8378	19.939	0.97151	0.0:1.0:0.0:0.0	.	767;507;509	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	767;509;507	ENSP00000384197:T767N;ENSP00000439990:T509N;ENSP00000298919:T507N	ENSP00000298919:T507N	T	+	2	0	PDZRN4	40253148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.050000	0.41297	2.890000	0.99128	0.650000	0.86243	ACC		PASS	0.512	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		70	111	70	111	---	---	---	---
NR4A1	3164	broad.mit.edu	37	12	52449850	52449850	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:52449850G>T	ENST00000243050.1	+	4	1227	c.913G>T	c.(913-915)Gct>Tct	p.A305S	NR4A1_ENST00000394824.2_Missense_Mutation_p.A305S|NR4A1_ENST00000360284.3_Missense_Mutation_p.A318S|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394825.1_Missense_Mutation_p.A305S|NR4A1_ENST00000550082.1_Missense_Mutation_p.A318S|NR4A1_ENST00000545748.1_Missense_Mutation_p.A359S	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	305					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A305S(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CATCTGCCTGGCTAACAAGGA	0.612																																						uc001rzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(913-915)GCT>TCT		nuclear receptor subfamily 4, group A, member 1							88.0	81.0	84.0					12																	52449850		2203	4300	6503	SO:0001583	missense	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52449850G>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.913G>T	12.37:g.52449850G>T	ENSP00000243050:p.Ala305Ser					NR4A1_uc010sno.1_Missense_Mutation_p.A318S|NR4A1_uc001rzt.2_Missense_Mutation_p.A305S|NR4A1_uc009zmc.2_5'Flank	p.A305S	NM_002135	NP_002126	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	4	1227	+			305			NR C4-type.|Nuclear receptor.		B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.913G>T	CCDS8818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.98|19.98	3.927761|3.927761	0.73327|0.73327	.|.	.|.	ENSG00000123358|ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824|ENST00000550763	D;D;D;D;D;D|T	0.97138|0.45668	-4.26;-4.26;-4.26;-4.26;-4.26;-4.26|0.89	4.27|4.27	3.35|3.35	0.38373|0.38373	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43634|0.43634	0.1256|0.1256	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	B;B|.	0.33739|.	0.084;0.422|.	B;B|.	0.42653|.	0.065;0.394|.	T|T	0.37244|0.37244	-0.9714|-0.9714	10|7	0.59425|0.41790	D|T	0.04|0.15	.|.	13.6903|13.6903	0.62542|0.62542	0.0:0.1571:0.8428:0.0|0.0:0.1571:0.8428:0.0	.|.	318;305|.	B4DML7;P22736|.	.;NR4A1_HUMAN|.	S|C	318;359;318;305;305;305|120	ENSP00000353427:A318S;ENSP00000440864:A359S;ENSP00000449539:A318S;ENSP00000243050:A305S;ENSP00000378302:A305S;ENSP00000378301:A305S|ENSP00000449858:W120C	ENSP00000243050:A305S|ENSP00000449858:W120C	A|W	+|+	1|3	0|0	NR4A1|NR4A1	50736117|50736117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.669000|7.669000	0.83911|0.83911	1.351000|1.351000	0.45789|0.45789	0.561000|0.561000	0.74099|0.74099	GCT|TGG		PASS	0.612	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			38	54	38	54	---	---	---	---
KRT85	3891	broad.mit.edu	37	12	52760914	52760914	+	Silent	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:52760914G>T	ENST00000257901.3	-	1	351	c.276C>A	c.(274-276)ccC>ccA	p.P92P	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	92	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.P92P(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGATGCATGGGGGGCTGGGTC	0.677																																						uc001sag.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(274-276)CCC>CCA		keratin 85							84.0	86.0	86.0					12																	52760914		2203	4300	6503	SO:0001819	synonymous_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52760914G>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.276C>A	12.37:g.52760914G>T							p.P92P	NM_002283	NP_002274	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	396	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		92			Head.		Q9NSB1	Silent	SNP	ENST00000257901.3	37	c.276C>A	CCDS8824.1																																																																																				PASS	0.677	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		33	82	33	82	---	---	---	---
KRT6A	3853	broad.mit.edu	37	12	52882246	52882246	+	Silent	SNP	C	C	A	rs368052661		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:52882246C>A	ENST00000330722.6	-	7	1358	c.1290G>T	c.(1288-1290)ctG>ctT	p.L430L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	430	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.L430L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCATCCTCCAGCCCTTCCA	0.612																																						uc001sam.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1288-1290)CTG>CTT		keratin 6A		C		0,4406		0,0,2203	106.0	93.0	98.0		1290	5.1	1.0	12		98	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	KRT6A	NM_005554.3		0,3,6500	AA,AC,CC		0.0349,0.0,0.0231		430/565	52882246	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52882246C>A	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1290G>T	12.37:g.52882246C>A							p.L430L	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1499	-			430			Rod.|Coil 2.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.1290G>T	CCDS41786.1																																																																																				PASS	0.612	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		55	69	55	69	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56565666	56565666	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:56565666C>T	ENST00000267064.4	-	20	1975	c.1889G>A	c.(1888-1890)cGc>cAc	p.R630H	SMARCC2_ENST00000550164.1_Missense_Mutation_p.R661H|SMARCC2_ENST00000394023.3_Missense_Mutation_p.R661H|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.R661H	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	630	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R630H(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTCCTGTGTGCGGCTTCCCAC	0.532																																						uc001skb.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(1888-1890)CGC>CAC		SWI/SNF-related matrix-associated							96.0	81.0	86.0					12																	56565666		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56565666C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1889G>A	12.37:g.56565666C>T	ENSP00000267064:p.Arg630His					SMARCC2_uc001skd.2_Missense_Mutation_p.R661H|SMARCC2_uc001ska.2_Missense_Mutation_p.R661H|SMARCC2_uc001skc.2_Missense_Mutation_p.R660H|SMARCC2_uc010sqf.1_Missense_Mutation_p.R550H	p.R630H	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		20	1995	-			630			SANT.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1889G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789673	0.90367	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	3.83	3.83	0.44106	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.84170	0.5413	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.995;0.984;0.991;0.991;0.984	D	0.88078	0.2805	10	0.87932	D	0	-8.2529	15.7076	0.77598	0.0:1.0:0.0:0.0	.	550;661;665;630;661	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	H	661;661;661;630	ENSP00000377591:R661H;ENSP00000449396:R661H;ENSP00000302919:R661H;ENSP00000267064:R630H	ENSP00000267064:R630H	R	-	2	0	SMARCC2	54851933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.433000	0.82419	0.655000	0.94253	CGC		PASS	0.532	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			3	75	3	75	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101584285	101584285	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:101584285T>C	ENST00000536262.2	-	6	1352	c.794A>G	c.(793-795)cAg>cGg	p.Q265R		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.Q265R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATATATCTCTGCACCTGGGA	0.398																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)CAG>CGG		solute carrier family 5 (iodide transporter),							149.0	142.0	144.0					12																	101584285		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101584285T>C	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.794A>G	12.37:g.101584285T>C	ENSP00000445340:p.Gln265Arg						p.Q265R	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			6	1184	-			265			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.794A>G	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729488	0.69074	.	.	ENSG00000256870	ENST00000536262	D	0.88741	-2.42	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.96595	0.8889	H	0.97758	4.07	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.98014	1.0367	10	0.87932	D	0	.	16.2405	0.82405	0.0:0.0:0.0:1.0	.	265	Q8N695	SC5A8_HUMAN	R	265	ENSP00000445340:Q265R	ENSP00000445340:Q265R	Q	-	2	0	SLC5A8	100108416	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	7.673000	0.83973	2.238000	0.73509	0.477000	0.44152	CAG		PASS	0.398	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		84	119	84	119	---	---	---	---
ASCL1	429	broad.mit.edu	37	12	103352352	103352352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:103352352C>A	ENST00000266744.3	+	1	889	c.330C>A	c.(328-330)taC>taA	p.Y110*		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	110					adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)	p.Y110*(1)		NS(3)|large_intestine(1)|lung(1)	5						GCTTTGGCTACAGCCTGCCGC	0.667																																						uc001tjr.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(328-330)TAC>TAA		achaete-scute complex homolog 1							13.0	12.0	12.0					12																	103352352		2117	4141	6258	SO:0001587	stop_gained	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352352C>A	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.330C>A	12.37:g.103352352C>A	ENSP00000266744:p.Tyr110*						p.Y110*	NM_004316	NP_004307	P50553	ASCL1_HUMAN			1	901	+			110					A8K3C4|Q9BQ30	Nonsense_Mutation	SNP	ENST00000266744.3	37	c.330C>A	CCDS31886.1	.	.	.	.	.	.	.	.	.	.	C	42	9.466085	0.99178	.	.	ENSG00000139352	ENST00000266744	.	.	.	4.17	3.27	0.37495	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3819	11.0097	0.47654	0.0:0.9045:0.0:0.0955	.	.	.	.	X	110	.	ENSP00000266744:Y110X	Y	+	3	2	ASCL1	101876482	.	.	1.000000	0.80357	0.994000	0.84299	.	.	0.857000	0.35407	0.462000	0.41574	TAC		PASS	0.667	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			3	3	3	3	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104107464	104107464	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:104107464G>T	ENST00000388887.2	+	42	4659	c.4455G>T	c.(4453-4455)aaG>aaT	p.K1485N		NM_017564.9	NP_060034.9			stabilin 2									p.K1485N(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCTCTGCCAAGGCTGACTGTA	0.532																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(4453-4455)AAG>AAT		stabilin 2 precursor							267.0	242.0	251.0					12																	104107464		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104107464G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4455G>T	12.37:g.104107464G>T	ENSP00000373539:p.Lys1485Asn					STAB2_uc009zug.2_RNA	p.K1485N	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			42	4641	+			1485			Extracellular (Potential).|EGF-like 12.			Missense_Mutation	SNP	ENST00000388887.2	37	c.4455G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	9.697	1.153495	0.21371	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.86694	-2.16	5.27	0.686	0.18015	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.630855	0.15292	N	0.270081	T	0.52468	0.1736	N	0.00493	-1.44	0.30672	N	0.753241	B	0.12013	0.005	B	0.16289	0.015	T	0.53500	-0.8430	10	0.07175	T	0.84	.	0.8189	0.01107	0.2016:0.244:0.3072:0.2472	.	1485	Q8WWQ8	STAB2_HUMAN	N	1485;172	ENSP00000373539:K1485N	ENSP00000258495:K172N	K	+	3	2	STAB2	102631594	0.986000	0.35501	0.251000	0.24312	0.970000	0.65996	0.305000	0.19254	0.215000	0.20761	0.555000	0.69702	AAG		PASS	0.532	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			140	194	140	194	---	---	---	---
RNF34	80196	broad.mit.edu	37	12	121855404	121855404	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:121855404C>T	ENST00000392464.2	+	3	392	c.323C>T	c.(322-324)aCa>aTa	p.T108I	RNF34_ENST00000361234.5_Missense_Mutation_p.T108I|RNF34_ENST00000392465.3_Missense_Mutation_p.T109I|RNF34_ENST00000555076.1_Intron					ring finger protein 34, E3 ubiquitin protein ligase									p.T109I(1)|p.T108I(1)		breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TTACAAGAGACAGCATTTCAG	0.423																																						uc001ual.1																			2	Substitution - Missense(2)		lung(2)		0						c.(322-324)ACA>ATA		ring finger protein 34 isoform 2							91.0	85.0	87.0					12																	121855404		2203	4300	6503	SO:0001583	missense	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121855404C>T	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.323C>T	12.37:g.121855404C>T	ENSP00000376257:p.Thr108Ile					RNF34_uc010szw.1_Missense_Mutation_p.T109I|RNF34_uc001uak.1_Missense_Mutation_p.T109I|RNF34_uc001uam.1_Missense_Mutation_p.T108I	p.T108I	NM_025126	NP_079402	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	3	437	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		108						Missense_Mutation	SNP	ENST00000392464.2	37	c.323C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.182941	0.94885	.	.	ENSG00000170633	ENST00000361234;ENST00000392465;ENST00000554606;ENST00000392464;ENST00000354795	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.74	5.74	0.90152	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.86493	0.5946	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.952;0.999;0.992	D	0.86011	0.1501	10	0.59425	D	0.04	-6.909	20.2982	0.98569	0.0:1.0:0.0:0.0	.	101;108;109	G3V504;Q969K3;Q969K3-2	.;RNF34_HUMAN;.	I	108;109;101;108;109	ENSP00000355137:T108I;ENSP00000376258:T109I;ENSP00000452096:T101I;ENSP00000376257:T108I	ENSP00000346850:T109I	T	+	2	0	RNF34	120339787	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.671000	0.83941	2.873000	0.98535	0.563000	0.77884	ACA		PASS	0.423	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		55	83	55	83	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132561094	132561094	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:132561094A>T	ENST00000333577.4	+	53	9272	c.9163A>T	c.(9163-9165)Aca>Tca	p.T3055S	EP400_ENST00000332482.4_Missense_Mutation_p.T2982S|EP400_ENST00000330386.6_Missense_Mutation_p.T2938S|RP13-820C6.2_ENST00000542422.1_RNA|EP400_ENST00000389562.2_Missense_Mutation_p.T3018S|EP400_ENST00000389561.2_Missense_Mutation_p.T3019S			Q96L91	EP400_HUMAN	E1A binding protein p400	3055					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T3018S(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCAACAGCAAACACCCGTGGC	0.443																																						uc001ujn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(9055-9057)ACA>TCA		E1A binding protein p400							85.0	74.0	78.0					12																	132561094		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132561094A>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9163A>T	12.37:g.132561094A>T	ENSP00000333602:p.Thr3055Ser					EP400_uc001ujl.2_Missense_Mutation_p.T3018S|EP400_uc001ujm.2_Missense_Mutation_p.T2938S|EP400_uc001ujp.2_Missense_Mutation_p.T229S|EP400_uc010tbo.1_Missense_Mutation_p.N85I	p.T3019S	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	51	9090	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	3055					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.9055A>T		.	.	.	.	.	.	.	.	.	.	A	9.489	1.100123	0.20552	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90004	-2.6;-2.6;-2.58;-2.58;-2.59	5.0	3.85	0.44370	.	0.655108	0.15615	N	0.253165	T	0.81880	0.4916	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.33549	0.417;0.006;0.006;0.006	B;B;B;B	0.41723	0.365;0.004;0.004;0.004	T	0.68938	-0.5277	10	0.21014	T	0.42	.	5.9609	0.19299	0.6746:0.0:0.3254:0.0	.	3055;3019;2938;3018	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	S	3055;3019;3018;2982;2938;3019	ENSP00000333602:T3055S;ENSP00000374212:T3019S;ENSP00000374213:T3018S;ENSP00000331737:T2982S;ENSP00000330620:T2938S	ENSP00000330620:T2938S	T	+	1	0	EP400	131127047	0.067000	0.21026	0.059000	0.19551	0.249000	0.25844	1.202000	0.32271	0.761000	0.33130	0.459000	0.35465	ACA		PASS	0.443	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		12	39	12	39	---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33684944	33684944	+	Missense_Mutation	SNP	C	C	A	rs372379527		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr13:33684944C>A	ENST00000336934.5	-	11	2824	c.2708G>T	c.(2707-2709)gGg>gTg	p.G903V	STARD13_ENST00000255486.4_Missense_Mutation_p.G895V|STARD13_ENST00000399365.3_Missense_Mutation_p.G785V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	903	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.G903V(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GAAAGTTGCCCCACTCTCCTC	0.547																																						uc001uuw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2707-2709)GGG>GTG		StAR-related lipid transfer (START) domain							177.0	134.0	148.0					13																	33684944		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33684944C>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2708G>T	13.37:g.33684944C>A	ENSP00000338785:p.Gly903Val					STARD13_uc001uuu.2_Missense_Mutation_p.G895V|STARD13_uc001uuv.2_Missense_Mutation_p.G785V|STARD13_uc001uux.2_Missense_Mutation_p.G868V|STARD13_uc010tec.1_RNA	p.G903V	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	11	2834	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	903			START.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.2708G>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032525	0.54790	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.06687	3.27;3.27;3.28	5.93	5.93	0.95920	.	0.049009	0.85682	D	0.000000	T	0.16685	0.0401	L	0.59912	1.85	0.80722	D	1	B;B;B	0.32051	0.354;0.024;0.029	B;B;B	0.38842	0.283;0.028;0.064	T	0.00855	-1.1539	10	0.49607	T	0.09	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	868;903;895	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	V	785;895;903	ENSP00000382300:G785V;ENSP00000255486:G895V;ENSP00000338785:G903V	ENSP00000255486:G895V	G	-	2	0	STARD13	32582944	0.999000	0.42202	0.952000	0.39060	0.806000	0.45545	5.577000	0.67444	2.797000	0.96272	0.655000	0.94253	GGG		PASS	0.547	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		104	37	104	37	---	---	---	---
SPG20	23111	broad.mit.edu	37	13	36878767	36878767	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr13:36878767T>G	ENST00000451493.1	-	9	1953	c.1736A>C	c.(1735-1737)tAc>tCc	p.Y579S	SPG20_ENST00000494062.2_Missense_Mutation_p.Y579S|SPG20_ENST00000355182.4_Missense_Mutation_p.Y579S|SPG20_ENST00000438666.2_Missense_Mutation_p.Y579S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	579					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.Y579S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ATTATATCCGTATCTTTAAAA	0.343																																						uc001uvn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1735-1737)TAC>TCC		spartin							70.0	61.0	64.0					13																	36878767		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36878767T>G	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1736A>C	13.37:g.36878767T>G	ENSP00000414147:p.Tyr579Ser					SPG20_uc010ten.1_Missense_Mutation_p.Y569S|SPG20_uc001uvm.2_Missense_Mutation_p.Y579S|SPG20_uc001uvo.2_Missense_Mutation_p.Y579S|SPG20_uc001uvq.2_Missense_Mutation_p.Y579S	p.Y579S	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	10	2006	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	579					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1736A>C	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.567763	0.45798	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.96232	-3.95;-3.95;-3.95	4.86	4.86	0.63082	Senescence/spartin-associated (1);	0.000000	0.85682	D	0.000000	D	0.98086	0.9369	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.98971	1.0801	10	0.66056	D	0.02	-7.3722	14.743	0.69469	0.0:0.0:0.0:1.0	.	579;579	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	S	579	ENSP00000406061:Y579S;ENSP00000347314:Y579S;ENSP00000414147:Y579S	ENSP00000347314:Y579S	Y	-	2	0	SPG20	35776767	1.000000	0.71417	0.244000	0.24202	0.036000	0.12997	5.675000	0.68123	1.957000	0.56846	0.482000	0.46254	TAC		PASS	0.343	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			66	12	66	12	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101287433	101287433	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr13:101287433G>T	ENST00000376234.3	-	10	1351	c.1162C>A	c.(1162-1164)Ctg>Atg	p.L388M	TMTC4_ENST00000328767.5_Missense_Mutation_p.L277M|TMTC4_ENST00000342624.5_Missense_Mutation_p.L407M|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	388						integral component of membrane (GO:0016021)		p.L407M(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAAATCCCAGGCCCAGAGTA	0.458																																						uc001vou.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1162-1164)CTG>ATG		transmembrane and tetratricopeptide repeat							32.0	29.0	30.0					13																	101287433		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101287433G>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1162C>A	13.37:g.101287433G>T	ENSP00000365408:p.Leu388Met					TMTC4_uc001vot.2_Missense_Mutation_p.L407M|TMTC4_uc010tja.1_Missense_Mutation_p.L277M|TMTC4_uc001vov.1_Missense_Mutation_p.L133M|TMTC4_uc001vow.1_Missense_Mutation_p.L171M	p.L388M	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN			10	1322	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		388			Helical; (Potential).		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1162C>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587659	0.66105	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.49139	0.79;0.79;0.79	5.4	3.36	0.38483	.	0.000000	0.64402	D	0.000001	T	0.68787	0.3039	M	0.93939	3.475	0.48511	D	0.999665	P;P;P;P	0.51537	0.879;0.944;0.946;0.929	P;P;P;P	0.58331	0.596;0.837;0.77;0.729	T	0.73304	-0.4025	10	0.62326	D	0.03	.	8.2066	0.31458	0.3061:0.0:0.6939:0.0	.	277;388;388;407	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	M	388;407;277	ENSP00000365408:L388M;ENSP00000343871:L407M;ENSP00000365409:L277M	ENSP00000365409:L277M	L	-	1	2	TMTC4	100085434	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.215000	0.51169	1.247000	0.43917	0.563000	0.77884	CTG		PASS	0.458	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		22	4	22	4	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389649	20389649	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr14:20389649A>T	ENST00000315915.4	+	1	909	c.884A>T	c.(883-885)aAg>aTg	p.K295M		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K295M(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGGATATGAAGGCTGCCGTA	0.383																																						uc010tkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(883-885)AAG>ATG		olfactory receptor, family 4, subfamily K,							103.0	116.0	112.0					14																	20389649		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389649A>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.884A>T	14.37:g.20389649A>T	ENSP00000319511:p.Lys295Met						p.K295M	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	884	+	all_cancers(95;0.00108)		295			Cytoplasmic (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.884A>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	13.68	2.310601	0.40895	.	.	ENSG00000176281	ENST00000315915	T	0.40756	1.02	4.17	2.99	0.34606	.	0.000000	0.49916	D	0.000131	T	0.37732	0.1014	L	0.50847	1.595	0.35287	D	0.781885	P	0.47677	0.899	B	0.44133	0.442	T	0.51387	-0.8712	10	0.72032	D	0.01	.	7.9897	0.30233	0.8169:0.0:0.0:0.1831	.	295	Q8NGD3	OR4K5_HUMAN	M	295	ENSP00000319511:K295M	ENSP00000319511:K295M	K	+	2	0	OR4K5	19459489	0.515000	0.26210	0.081000	0.20488	0.479000	0.33129	1.393000	0.34497	0.613000	0.30089	0.533000	0.62120	AAG		PASS	0.383	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		65	183	65	183	---	---	---	---
OR4K1	79544	broad.mit.edu	37	14	20404281	20404281	+	Silent	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr14:20404281C>T	ENST00000285600.4	+	1	515	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGGCGGTGGGCGTTCTTCATT	0.458																																						uc001vwj.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(454-456)GGC>GGT		olfactory receptor, family 4, subfamily K,							144.0	138.0	140.0					14																	20404281		2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404281C>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.456C>T	14.37:g.20404281C>T							p.G152G	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	456	+	all_cancers(95;0.00108)		152			Helical; Name=4; (Potential).		B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.456C>T	CCDS32025.1																																																																																				PASS	0.458	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			40	163	40	163	---	---	---	---
IPO4	79711	broad.mit.edu	37	14	24655080	24655080	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr14:24655080G>C	ENST00000354464.6	-	12	1332	c.1156C>G	c.(1156-1158)Cac>Gac	p.H386D	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	386					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.H386D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGCCTGATGTGGTCGCCAGCT	0.572																																						uc001wmv.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1156-1158)CAC>GAC		importin 4							48.0	51.0	50.0					14																	24655080		2165	4263	6428	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24655080G>C	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1156C>G	14.37:g.24655080G>C	ENSP00000346453:p.His386Asp					IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Missense_Mutation_p.H48D|IPO4_uc001wmx.1_Missense_Mutation_p.H250D|IPO4_uc001wmy.1_Missense_Mutation_p.H250D|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.H386D	p.H386D	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	12	1287	-			386					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.1156C>G	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236672	0.39498	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.04234	3.67	5.55	3.6	0.41247	Armadillo-like helical (1);Armadillo-type fold (1);	0.236485	0.43919	D	0.000513	T	0.05181	0.0138	L	0.49778	1.585	0.47698	D	0.99949	B	0.25312	0.123	B	0.24974	0.057	T	0.32241	-0.9914	10	0.36615	T	0.2	-16.8175	6.003	0.19531	0.2804:0.0:0.7196:0.0	.	386	Q8TEX9	IPO4_HUMAN	D	386;62	ENSP00000346453:H386D	ENSP00000346453:H386D	H	-	1	0	IPO4	23724920	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.417000	0.44653	1.594000	0.50039	0.655000	0.94253	CAC		PASS	0.572	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		29	52	29	52	---	---	---	---
KHNYN	23351	broad.mit.edu	37	14	24900891	24900891	+	Silent	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr14:24900891C>T	ENST00000251343.5	+	3	563	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000553935.1_Silent_p.L142L|KHNYN_ENST00000556842.1_Silent_p.L142L|KHNYN_ENST00000554268.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	142							RNA binding (GO:0003723)	p.L142L(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GGCAGAGCGGCTGAGCTGGGA	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wph.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|liver(1)	3						c.(424-426)CTG>TTG		hypothetical protein LOC23351							52.0	59.0	56.0					14																	24900891		2203	4300	6503	SO:0001819	synonymous_variant	23351							g.chr14:24900891C>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.424C>T	14.37:g.24900891C>T			OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc010tpc.1_Silent_p.L183L|KHNYN_uc010alw.2_Silent_p.L142L|CBLN3_uc001wpg.3_5'Flank	p.L142L	NM_015299	NP_056114	O15037	KHNYN_HUMAN			3	626	+			142					Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	ENST00000251343.5	37	c.424C>T	CCDS32058.1																																																																																				PASS	0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			51	53	51	53	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26949315	26949315	+	Silent	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr14:26949315C>A	ENST00000344429.5	-	3	318	c.315G>T	c.(313-315)acG>acT	p.T105T	NOVA1_ENST00000574031.1_Silent_p.T105T|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000539517.2_Silent_p.T105T|NOVA1_ENST00000465357.2_Silent_p.T105T|NOVA1_ENST00000547619.1_Silent_p.T105T	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	108	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T105T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GTGCTTCAACCGTTCCCTGGA	0.398																																						uc001wpy.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(313-315)ACG>ACT		neuro-oncological ventral antigen 1 isoform 1							113.0	95.0	101.0					14																	26949315		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26949315C>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.315G>T	14.37:g.26949315C>A						NOVA1_uc001wpz.2_Silent_p.T105T|NOVA1_uc001wqa.2_5'UTR|NOVA1_uc001wqb.2_Silent_p.T105T	p.T105T	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	3	633	-			108			KH 1.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000344429.5	37	c.315G>T	CCDS9635.1																																																																																				PASS	0.398	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		131	79	131	79	---	---	---	---
NPAS3	64067	broad.mit.edu	37	14	33684419	33684419	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr14:33684419G>A	ENST00000356141.4	+	3	172	c.172G>A	c.(172-174)Gat>Aat	p.D58N	NPAS3_ENST00000341321.4_Missense_Mutation_p.D58N|NPAS3_ENST00000547068.1_De_novo_Start_OutOfFrame|NPAS3_ENST00000357798.5_Missense_Mutation_p.D28N|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000551492.1_Missense_Mutation_p.D65N|NPAS3_ENST00000548645.1_Missense_Mutation_p.D28N|NPAS3_ENST00000346562.2_Missense_Mutation_p.D28N			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	58	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.D28N(2)|p.D58N(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GAAATCCCGAGATGCTGCTCG	0.453																																						uc001wru.2																			3	Substitution - Missense(3)	p.L58L(1)	lung(3)	ovary(1)|skin(1)	2						c.(172-174)GAT>AAT		neuronal PAS domain protein 3 isoform 3							56.0	62.0	60.0					14																	33684419		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33684419G>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.172G>A	14.37:g.33684419G>A	ENSP00000348460:p.Asp58Asn					NPAS3_uc001wrs.2_Missense_Mutation_p.D28N|NPAS3_uc001wrt.2_Missense_Mutation_p.D28N|NPAS3_uc001wrv.2_Missense_Mutation_p.D28N|NPAS3_uc001wrw.2_5'UTR	p.D58N	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	3	236	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		58			Basic motif.		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.172G>A	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316235	0.40996	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;D;T;T;T	0.97924	3.45;1.92;3.35;-4.61;3.34;1.92;3.2	5.96	5.06	0.68205	Helix-loop-helix DNA-binding (4);	0.000000	0.64402	D	0.000002	D	0.95736	0.8613	N	0.21240	0.645	0.58432	D	0.999997	B;B;B;P	0.40083	0.357;0.244;0.357;0.702	B;B;B;P	0.50617	0.303;0.159;0.204;0.646	D	0.93791	0.7092	10	0.02654	T	1	.	16.5366	0.84374	0.0:0.0:0.8681:0.1319	.	28;58;28;28	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	N	35;65;28;58;28;58;28	ENSP00000448373:D35N;ENSP00000450392:D65N;ENSP00000319610:D28N;ENSP00000344158:D58N;ENSP00000448916:D28N;ENSP00000348460:D58N;ENSP00000350446:D28N	ENSP00000344158:D58N	D	+	1	0	NPAS3	32754170	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.986000	0.88173	1.508000	0.48769	-0.181000	0.13052	GAT		PASS	0.453	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			47	35	47	35	---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73717712	73717712	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr14:73717712C>T	ENST00000554301.1	+	6	726	c.563C>T	c.(562-564)aCc>aTc	p.T188I	PAPLN_ENST00000427855.1_Missense_Mutation_p.T188I|PAPLN_ENST00000381166.3_Missense_Mutation_p.T188I|PAPLN_ENST00000340738.5_Missense_Mutation_p.T188I|PAPLN_ENST00000555445.1_Missense_Mutation_p.T188I			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	188						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.T188I(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTCGCAGGCACCTTTGACGCT	0.632																																						uc010ttx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(562-564)ACC>ATC		papilin							99.0	86.0	91.0					14																	73717712		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73717712C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.563C>T	14.37:g.73717712C>T	ENSP00000451803:p.Thr188Ile					PAPLN_uc001xnw.3_Missense_Mutation_p.T188I|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.T188I	p.T188I	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	6	726	+			188					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.563C>T		.	.	.	.	.	.	.	.	.	.	c	14.70	2.613232	0.46631	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.66815	-0.08;-0.23;-0.23;-0.23;-0.23	4.33	2.44	0.29823	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.51890	0.1701	L	0.31157	0.91	0.23010	N	0.99843	P;P;B	0.43578	0.775;0.811;0.128	B;B;B	0.42386	0.267;0.386;0.084	T	0.30822	-0.9965	9	0.22109	T	0.4	.	7.1893	0.25816	0.0:0.785:0.0:0.215	.	188;188;188	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	I	188	ENSP00000345395:T188I;ENSP00000403403:T188I;ENSP00000370558:T188I;ENSP00000451803:T188I;ENSP00000451729:T188I	ENSP00000216658:T188I	T	+	2	0	PAPLN	72787465	0.996000	0.38824	0.989000	0.46669	0.887000	0.51463	0.573000	0.23699	0.537000	0.28751	0.550000	0.68814	ACC		PASS	0.632	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		4	83	4	83	---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81609743	81609743	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr14:81609743C>A	ENST00000541158.2	+	11	1663	c.1341C>A	c.(1339-1341)aaC>aaA	p.N447K	TSHR_ENST00000298171.2_Missense_Mutation_p.N447K|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	447					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.N447K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACAAACTGAACGTCCCCCGCT	0.517			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		1	Substitution - Missense(1)		lung(1)	thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(1339-1341)AAC>AAA		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						706.0	565.0	613.0					14																	81609743		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609743C>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1341C>A	14.37:g.81609743C>A	ENSP00000441235:p.Asn447Lys						p.N447K	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	1497	+			447			Cytoplasmic (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1341C>A	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	c	9.438	1.087245	0.20390	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.85556	-2.0;-2.0	5.74	-11.5	0.00074	.	0.092424	0.85682	D	0.000000	T	0.55353	0.1915	N	0.05306	-0.075	0.19775	N	0.999959	B	0.09022	0.002	B	0.06405	0.002	T	0.45205	-0.9277	10	0.87932	D	0	.	2.2649	0.04076	0.1354:0.1915:0.2143:0.4588	.	447	F5GYU5	.	K	447;94;447	ENSP00000441235:N447K;ENSP00000298171:N447K	ENSP00000298171:N447K	N	+	3	2	TSHR	80679496	0.000000	0.05858	0.216000	0.23742	0.765000	0.43378	-5.902000	0.00091	-2.654000	0.00422	-0.993000	0.02533	AAC		PASS	0.517	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		81	39	81	39	---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88940130	88940130	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr14:88940130C>A	ENST00000556564.1	-	14	2812	c.2528G>T	c.(2527-2529)cGa>cTa	p.R843L	PTPN21_ENST00000328736.3_Missense_Mutation_p.R843L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	843					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.R843L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCATCTACTCGAGTCTTTTT	0.403																																						uc001xwv.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2527-2529)CGA>CTA		protein tyrosine phosphatase, non-receptor type							149.0	143.0	145.0					14																	88940130		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88940130C>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2528G>T	14.37:g.88940130C>A	ENSP00000452414:p.Arg843Leu					PTPN21_uc010twc.1_Missense_Mutation_p.R639L	p.R843L	NM_007039	NP_008970	Q16825	PTN21_HUMAN			14	2859	-			843						Missense_Mutation	SNP	ENST00000556564.1	37	c.2528G>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836418	0.50951	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.73469	-0.75;-0.75	5.43	4.44	0.53790	.	0.131690	0.48767	D	0.000171	T	0.69531	0.3121	M	0.63428	1.95	0.34648	D	0.72138	B	0.33583	0.418	B	0.31390	0.129	T	0.77338	-0.2625	10	0.66056	D	0.02	.	10.8313	0.46663	0.0:0.8235:0.0:0.1765	.	843	Q16825	PTN21_HUMAN	L	843	ENSP00000330276:R843L;ENSP00000452414:R843L	ENSP00000330276:R843L	R	-	2	0	PTPN21	88009883	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.082000	0.41605	1.130000	0.42092	0.655000	0.94253	CGA		PASS	0.403	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	90	8	90	---	---	---	---
IGHV3-43	28426	broad.mit.edu	37	14	106926397	106926397	+	RNA	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr14:106926397C>A	ENST00000434710.1	-	0	224									immunoglobulin heavy variable 3-43																		GTATAATCATCAAAGGTGAAT	0.557																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							173.0	115.0	134.0					14																	106926397		1935	4122	6057			8755							g.chr14:106926397C>A	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926397C>A						uc010tyu.1_Intron								235		-									RNA	SNP	ENST00000434710.1	37	c.10158G>T																																																																																					PASS	0.557	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		74	127	74	127	---	---	---	---
IGHV3-73	28409	broad.mit.edu	37	14	107211191	107211191	+	RNA	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr14:107211191G>A	ENST00000390636.2	-	0	177									immunoglobulin heavy variable 3-73																		GGACCCCCCAGGCTGGACCAA	0.622																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							81.0	83.0	82.0					14																	107211191		1878	4109	5987			8755							g.chr14:107211191G>A	Z27508		14q32.33	2012-02-08			ENSG00000211976	ENSG00000211976		"""Immunoglobulins / IGH locus"""	5623	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151867		14.37:g.107211191G>A														18		-									RNA	SNP	ENST00000390636.2	37	c.1150C>T																																																																																					PASS	0.622	IGHV3-73-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324212.1	NG_001019		4	62	4	62	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369104	22369104	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr15:22369104T>C	ENST00000332663.2	+	1	627	c.529T>C	c.(529-531)Tac>Cac	p.Y177H	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y177H(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTTAGACAGTTACTTCTGTGA	0.507																																						uc010tzu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(529-531)TAC>CAC		olfactory receptor, family 4, subfamily M,							301.0	240.0	260.0					15																	22369104		2203	4297	6500	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369104T>C	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.529T>C	15.37:g.22369104T>C	ENSP00000329467:p.Tyr177His					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.Y177H	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	529	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	177			Extracellular (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.529T>C	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	13.13	2.144259	0.37825	.	.	ENSG00000182974	ENST00000332663	T	0.00174	8.62	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000398	T	0.00496	0.0016	M	0.85462	2.755	0.09310	N	1	D	0.69078	0.997	D	0.68943	0.961	T	0.31971	-0.9924	10	0.87932	D	0	-12.0775	8.5824	0.33637	0.0:0.0:0.0:1.0	.	177	Q8NGB6	OR4M2_HUMAN	H	177	ENSP00000329467:Y177H	ENSP00000329467:Y177H	Y	+	1	0	OR4M2	19870468	0.002000	0.14202	1.000000	0.80357	0.986000	0.74619	1.406000	0.34646	1.167000	0.42706	0.368000	0.22195	TAC		PASS	0.507	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			121	356	121	356	---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25585248	25585248	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr15:25585248C>A	ENST00000397954.2	-	10	2490	c.2491G>T	c.(2491-2493)Ggc>Tgc	p.G831C	UBE3A_ENST00000428984.2_Missense_Mutation_p.G808C|UBE3A_ENST00000438097.1_Missense_Mutation_p.G808C|UBE3A_ENST00000566215.1_Missense_Mutation_p.G808C|SNHG14_ENST00000452731.1_RNA|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000232165.3_Missense_Mutation_p.G828C			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	831	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.G831C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTGTCTGGGCCATTTTTGGCT	0.393																																						uc001zaq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(2491-2493)GGC>TGC		ubiquitin protein ligase E3A isoform 2							132.0	123.0	126.0					15																	25585248		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25585248C>A	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2491G>T	15.37:g.25585248C>A	ENSP00000381045:p.Gly831Cys					uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.G808C|UBE3A_uc001zas.2_Missense_Mutation_p.G828C|UBE3A_uc001zat.2_Missense_Mutation_p.G808C	p.G831C	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	10	2491	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	831			HECT.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.2491G>T	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884993	0.91814	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.51	5.51	0.81932	HECT (4);	0.000000	0.85682	D	0.000000	D	0.83166	0.5195	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87401	0.2369	10	0.87932	D	0	.	19.415	0.94690	0.0:1.0:0.0:0.0	.	828;831	Q05086-3;Q05086	.;UBE3A_HUMAN	C	828;828;831;808;808	ENSP00000232165:G828C;ENSP00000381045:G831C;ENSP00000411258:G808C;ENSP00000401265:G808C	ENSP00000232165:G828C	G	-	1	0	UBE3A	23136341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.569000	0.86673	0.591000	0.81541	GGC		PASS	0.393	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		59	97	59	97	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063935	48063935	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr15:48063935G>C	ENST00000316364.5	+	19	3614	c.3175G>C	c.(3175-3177)Gtt>Ctt	p.V1059L	SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V997L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V1040L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V984L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V1003L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V997L|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V1059L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V997L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V1016L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1059					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V997L(1)|p.V1059L(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GCCTTCCTTTGTTCCTCAAAC	0.502																																						uc010bek.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(3175-3177)GTT>CTT		semaphorin 6D isoform 4 precursor							182.0	181.0	181.0					15																	48063935		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063935G>C	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.3175G>C	15.37:g.48063935G>C	ENSP00000324857:p.Val1059Leu					SEMA6D_uc001zvw.2_Missense_Mutation_p.V997L|SEMA6D_uc001zvy.2_Missense_Mutation_p.V1059L|SEMA6D_uc001zvz.2_Missense_Mutation_p.V1003L|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.V997L|SEMA6D_uc001zwc.2_Missense_Mutation_p.V984L	p.V1059L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3535	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	1059			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.3175G>C	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326163	0.24080	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.16897	2.32;2.31;2.31;2.32;2.32;2.32;2.32;2.32	5.2	5.2	0.72013	.	0.620590	0.17346	N	0.177584	T	0.11239	0.0274	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.14012	0.007;0.0;0.009;0.007	B;B;B;B	0.17098	0.004;0.004;0.017;0.004	T	0.13953	-1.0490	10	0.33141	T	0.24	.	12.2666	0.54681	0.0767:0.0:0.9233:0.0	.	984;1003;1059;997	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	L	997;1059;1059;1040;1016;1003;997;984	ENSP00000442040:V997L;ENSP00000446152:V1059L;ENSP00000324857:V1059L;ENSP00000374084:V1040L;ENSP00000374083:V1016L;ENSP00000346786:V1003L;ENSP00000350770:V997L;ENSP00000374079:V984L	ENSP00000324857:V1059L	V	+	1	0	SEMA6D	45851227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.117000	0.57877	2.717000	0.92951	0.655000	0.94253	GTT		PASS	0.502	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		143	214	143	214	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50158605	50158605	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr15:50158605A>G	ENST00000284509.6	-	26	3245	c.3104T>C	c.(3103-3105)aTt>aCt	p.I1035T	ATP8B4_ENST00000559829.1_Missense_Mutation_p.I1035T	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1035						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.I1035T(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTAAATAAAATGGAGAAATA	0.388																																						uc001zxu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(3103-3105)ATT>ACT		ATPase class I type 8B member 4							100.0	93.0	95.0					15																	50158605		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50158605A>G	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3104T>C	15.37:g.50158605A>G	ENSP00000284509:p.Ile1035Thr					ATP8B4_uc010ber.2_Missense_Mutation_p.I908T|ATP8B4_uc010ufd.1_Missense_Mutation_p.I845T|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.I38T	p.I1035T	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	26	3246	-		all_lung(180;0.00183)	1035			Helical; (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.3104T>C	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.270137	0.59540	.	.	ENSG00000104043	ENST00000284509	T	0.43688	0.94	5.15	5.15	0.70609	.	0.053428	0.64402	D	0.000001	T	0.61085	0.2319	M	0.83953	2.67	0.48975	D	0.999732	P;P	0.49090	0.919;0.726	P;B	0.55749	0.783;0.342	T	0.66984	-0.5785	10	0.62326	D	0.03	.	13.2117	0.59828	1.0:0.0:0.0:0.0	.	113;1035	Q6PG43;Q8TF62	.;AT8B4_HUMAN	T	1035	ENSP00000284509:I1035T	ENSP00000284509:I1035T	I	-	2	0	ATP8B4	47945897	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.225000	0.95219	2.055000	0.61198	0.482000	0.46254	ATT		PASS	0.388	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		40	83	40	83	---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56387143	56387143	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr15:56387143T>A	ENST00000559447.2	-	9	2763	c.2492A>T	c.(2491-2493)cAc>cTc	p.H831L	RFX7_ENST00000422057.1_Missense_Mutation_p.H831L|RFX7_ENST00000423270.1_Missense_Mutation_p.H928L|RFX7_ENST00000317318.6_Missense_Mutation_p.H928L			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	831					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H928L(1)|p.H831L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCTGGAAGTGTGAGATGACAT	0.502																																						uc010bfn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2782-2784)CAC>CTC		regulatory factor X domain containing 2							105.0	114.0	111.0					15																	56387143		2085	4214	6299	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387143T>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2492A>T	15.37:g.56387143T>A	ENSP00000453281:p.His831Leu					RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.H742L	p.H928L	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			9	2783	-			831					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.2783A>T		.	.	.	.	.	.	.	.	.	.	T	7.267	0.606291	0.14002	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.56611	0.47;0.45;0.46	5.76	5.76	0.90799	.	0.055174	0.64402	D	0.000002	T	0.39036	0.1063	N	0.19112	0.55	0.47905	D	0.999549	B;B	0.19073	0.033;0.003	B;B	0.16289	0.015;0.002	T	0.16897	-1.0387	10	0.28530	T	0.3	-15.0978	15.2489	0.73529	0.0:0.0:0.0:1.0	.	831;831	Q2KHR2;C9JU50	RFX7_HUMAN;.	L	831;928;928	ENSP00000387504:H831L;ENSP00000313299:H928L;ENSP00000397644:H928L	ENSP00000313299:H928L	H	-	2	0	RFX7	54174435	1.000000	0.71417	0.904000	0.35570	0.971000	0.66376	5.716000	0.68437	2.185000	0.69588	0.460000	0.39030	CAC		PASS	0.502	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		20	19	20	19	---	---	---	---
C15orf27	123591	broad.mit.edu	37	15	76430135	76430135	+	Silent	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr15:76430135G>A	ENST00000388942.3	+	3	402	c.126G>A	c.(124-126)ctG>ctA	p.L42L		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	42					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)	p.L42L(1)		endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CTGTGCAGCTGGTGAACTTTG	0.527																																						uc002bbq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(124-126)CTG>CTA		hypothetical protein LOC123591							98.0	106.0	104.0					15																	76430135		1995	4164	6159	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76430135G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.126G>A	15.37:g.76430135G>A						C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR	p.L42L	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			3	281	+			42					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.126G>A	CCDS10289.2																																																																																				PASS	0.527	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		76	104	76	104	---	---	---	---
PEAK1	79834	broad.mit.edu	37	15	77425758	77425758	+	Silent	SNP	C	C	T	rs374175949		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr15:77425758C>T	ENST00000560626.2	-	6	4141	c.3666G>A	c.(3664-3666)ttG>ttA	p.L1222L	PEAK1_ENST00000312493.4_Silent_p.L1222L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1222					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L1222L(2)									TCTCCTTGCGCAAAGGCCTTT	0.483																																						uc002bcm.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3664-3666)TTG>TTA		NKF3 kinase family member		C		0,3868		0,0,1934	76.0	84.0	81.0		3666	3.8	1.0	15		81	1,8231		0,1,4115	no	coding-synonymous	PEAK1	NM_024776.3		0,1,6049	TT,TC,CC		0.0121,0.0,0.0083		1222/1747	77425758	1,12099	1934	4116	6050	SO:0001819	synonymous_variant	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425758C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3666G>A	15.37:g.77425758C>T							p.L1222L	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	5	3974	-			1222					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	c.3666G>A	CCDS42062.1																																																																																				PASS	0.483	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			40	66	40	66	---	---	---	---
DEXI	28955	broad.mit.edu	37	16	11035742	11035742	+	Silent	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr16:11035742G>A	ENST00000331808.4	-	1	575	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	CLEC16A_ENST00000409552.3_5'Flank|RP11-876N24.5_ENST00000570440.1_RNA|CLEC16A_ENST00000409790.1_5'Flank|RP11-876N24.4_ENST00000573379.1_RNA|DEXI_ENST00000469379.1_5'UTR	NM_014015.3	NP_054734.2	O95424	DEXI_HUMAN	Dexi homolog (mouse)	41								p.L41L(1)		endometrium(2)|lung(1)	3						GCGTAGTACAGGATCAGCACA	0.642																																						uc002dal.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(121-123)CTG>TTG		dexamethasone-induced protein							34.0	31.0	32.0					16																	11035742		2196	4297	6493	SO:0001819	synonymous_variant	28955							g.chr16:11035742G>A	AF108145	CCDS10545.1	16p13.13	2010-02-17			ENSG00000182108	ENSG00000182108			13267	protein-coding gene	gene with protein product	"""dexamethasone-induced transcript"""					11306815, 11472984	Standard	NM_014015		Approved	MYLE	uc002dal.3	O95424	OTTHUMG00000129785	ENST00000331808.4:c.121C>T	16.37:g.11035742G>A						CLEC16A_uc002dan.3_5'Flank|CLEC16A_uc002dao.2_5'Flank	p.L41L	NM_014015	NP_054734	O95424	DEXI_HUMAN			1	516	-			41					B2RAA7	Silent	SNP	ENST00000331808.4	37	c.121C>T	CCDS10545.1																																																																																				PASS	0.642	DEXI-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252009.1	NM_014015		14	4	14	4	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29884939	29884939	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr16:29884939A>G	ENST00000308713.5	-	13	2743	c.2216T>C	c.(2215-2217)cTc>cCc	p.L739P	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.L695P|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L625P|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L669P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	739	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.L739P(1)|p.L669P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCCCCTCGAGGCTGTACCC	0.677																																						uc002duq.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2215-2217)CTC>CCC		seizure related 6 homolog (mouse)-like 2 isoform							42.0	39.0	40.0					16																	29884939		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29884939A>G	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2216T>C	16.37:g.29884939A>G	ENSP00000312550:p.Leu739Pro					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.L669P|SEZ6L2_uc002dur.3_Missense_Mutation_p.L669P|SEZ6L2_uc002dus.3_Missense_Mutation_p.L625P|SEZ6L2_uc010vec.1_Missense_Mutation_p.L739P|SEZ6L2_uc010ved.1_Missense_Mutation_p.L695P	p.L739P	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			13	2456	-			739			Sushi 4.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.2216T>C	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779555	0.70107	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	4.67	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.37623	N	0.002007	D	0.87095	0.6092	H	0.96720	3.87	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.997;1.0	D;D;D;D;D;D	0.85130	0.997;0.972;0.987;0.967;0.959;0.977	D	0.90959	0.4811	10	0.87932	D	0	.	13.1007	0.59218	1.0:0.0:0.0:0.0	.	695;739;625;669;739;669	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	P	669;739;625;695	ENSP00000310206:L669P;ENSP00000312550:L739P;ENSP00000319215:L625P;ENSP00000439412:L695P	ENSP00000312550:L739P	L	-	2	0	SEZ6L2	29792440	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.005000	0.76323	1.737000	0.51674	0.533000	0.62120	CTC		PASS	0.677	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		14	17	14	17	---	---	---	---
ZNF48	197407	broad.mit.edu	37	16	30409275	30409275	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr16:30409275G>A	ENST00000320159.2	+	2	1080	c.704G>A	c.(703-705)cGc>cAc	p.R235H	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R235H(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGTTCCGCCCGCATCAAGCAC	0.657																																						uc002dya.1																			2	Substitution - Missense(2)		lung(2)		0						c.(703-705)CGC>CAC		zinc finger protein 48							41.0	48.0	46.0					16																	30409275		2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409275G>A	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.704G>A	16.37:g.30409275G>A	ENSP00000324056:p.Arg235His					ZNF48_uc002dxz.1_Missense_Mutation_p.R112H	p.R235H	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN			2	763	+			235			C2H2-type 4.		Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.704G>A	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213056	0.58452	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.28454	1.61	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36703	N	0.002456	T	0.49795	0.1578	L	0.52905	1.665	0.31463	N	0.669362	D	0.67145	0.996	D	0.70935	0.971	T	0.56426	-0.7981	10	0.87932	D	0	-5.6823	15.2709	0.73699	0.0:0.0:1.0:0.0	.	235	Q96MX3	ZNF48_HUMAN	H	360;235	ENSP00000324056:R235H	ENSP00000324056:R235H	R	+	2	0	ZNF48	30316776	0.995000	0.38212	0.998000	0.56505	0.711000	0.40976	4.221000	0.58574	2.536000	0.85505	0.563000	0.77884	CGC		PASS	0.657	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		3	54	3	54	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579355	7579355	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:7579355A>C	ENST00000269305.4	-	4	521	c.332T>G	c.(331-333)cTg>cGg	p.L111R	TP53_ENST00000413465.2_Missense_Mutation_p.L111R|TP53_ENST00000359597.4_Missense_Mutation_p.L111R|TP53_ENST00000455263.2_Missense_Mutation_p.L111R|TP53_ENST00000420246.2_Missense_Mutation_p.L111R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.L111R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	111	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> M (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L111R(11)|p.0?(8)|p.L111Q(7)|p.L111P(6)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.L111fs*10(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAGAAGCCCAGACGGAAACC	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		43	Substitution - Missense(24)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(2)|Deletion - In frame(1)|Complex - frameshift(1)	p.0?(7)|p.L111P(6)|p.L111Q(4)|p.L111R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.Y107fs*44(1)|p.L111L(1)|p.L111M(1)|p.L111fs*10(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)	lung(9)|upper_aerodigestive_tract(7)|liver(6)|large_intestine(5)|central_nervous_system(4)|bone(4)|breast(4)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|urinary_tract(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CX942126	TP53	X		c.(331-333)CTG>CGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							64.0	60.0	61.0					17																	7579355		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579355A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.332T>G	17.37:g.7579355A>C	ENSP00000269305:p.Leu111Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.L111R|TP53_uc002gih.2_Missense_Mutation_p.L111R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.L111R|TP53_uc010cni.1_Missense_Mutation_p.L111R|TP53_uc002gij.2_Missense_Mutation_p.L111R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.L72R|TP53_uc010cnk.1_Missense_Mutation_p.L126R	p.L111R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	526	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	111		L -> Q (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.332T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.037162	0.75617	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99837	-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.99760	0.9903	M	0.81942	2.565	0.48762	D	0.999702	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.987;0.992;0.999;0.994;1.0;1.0;0.99	D	0.96946	0.9691	10	0.87932	D	0	-10.3745	12.5363	0.56144	1.0:0.0:0.0:0.0	.	72;111;111;111;111;111;111	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	111	ENSP00000410739:L111R;ENSP00000352610:L111R;ENSP00000269305:L111R;ENSP00000398846:L111R;ENSP00000391127:L111R;ENSP00000391478:L111R;ENSP00000424104:L111R;ENSP00000426252:L111R	ENSP00000269305:L111R	L	-	2	0	TP53	7520080	0.739000	0.28196	0.244000	0.24202	0.958000	0.62258	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	CTG		PASS	0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	13	38	13	---	---	---	---
HS3ST3A1	9955	broad.mit.edu	37	17	13400066	13400066	+	Silent	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:13400066C>A	ENST00000284110.1	-	2	1466	c.669G>T	c.(667-669)cgG>cgT	p.R223R	HS3ST3A1_ENST00000578576.1_Silent_p.R21R	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	223					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)	p.R223R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGGGGGCCTCCCGCGTGACGA	0.622																																						uc002gob.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(667-669)CGG>CGT		heparan sulfate D-glucosaminyl							71.0	88.0	83.0					17																	13400066		2202	4300	6502	SO:0001819	synonymous_variant	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13400066C>A	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.669G>T	17.37:g.13400066C>A							p.R223R	NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1467	-		all_lung(20;0.114)	223			Lumenal (Potential).		A8K7N2	Silent	SNP	ENST00000284110.1	37	c.669G>T	CCDS11165.1																																																																																				PASS	0.622	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		28	17	28	17	---	---	---	---
LYZL6	57151	broad.mit.edu	37	17	34266340	34266340	+	Missense_Mutation	SNP	G	G	C	rs141105239		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:34266340G>C	ENST00000585556.1	-	2	355	c.21C>G	c.(19-21)atC>atG	p.I7M	LYZL6_ENST00000492340.2_5'Flank|LYZL6_ENST00000293274.4_Missense_Mutation_p.I7M|LYZL6_ENST00000394523.3_Missense_Mutation_p.I7M			O75951	LYZL6_HUMAN	lysozyme-like 6	7					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.I7M(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGACCAAATAGATGAGTAGCG	0.547																																						uc002hkj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)ATC>ATG		lysozyme-like 6 precursor							130.0	120.0	124.0					17																	34266340		2203	4300	6503	SO:0001583	missense	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34266340G>C	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.21C>G	17.37:g.34266340G>C	ENSP00000468094:p.Ile7Met					LYZL6_uc002hkk.1_Missense_Mutation_p.I7M	p.I7M	NM_020426	NP_065159	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	171	-			7					Q6UW30	Missense_Mutation	SNP	ENST00000585556.1	37	c.21C>G	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365104	0.24684	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.68765	-0.35;-0.35	5.29	4.32	0.51571	.	0.701216	0.13185	N	0.407165	T	0.59662	0.2210	L	0.46157	1.445	0.09310	N	1	B	0.27229	0.172	B	0.17979	0.02	T	0.56044	-0.8044	10	0.87932	D	0	-9.4438	12.1522	0.54055	0.0:0.1854:0.8146:0.0	.	7	O75951	LYZL6_HUMAN	M	7	ENSP00000293274:I7M;ENSP00000378031:I7M	ENSP00000293274:I7M	I	-	3	3	LYZL6	31290453	0.018000	0.18449	0.044000	0.18714	0.005000	0.04900	0.003000	0.13083	1.359000	0.45940	0.655000	0.94253	ATC		PASS	0.547	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		60	136	60	136	---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37420578	37420578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:37420578G>T	ENST00000264658.6	-	14	1313	c.1053C>A	c.(1051-1053)tgC>tgA	p.C351*	FBXL20_ENST00000577399.1_Nonsense_Mutation_p.C353*|FBXL20_ENST00000583610.1_Nonsense_Mutation_p.C351*|FBXL20_ENST00000394294.3_Nonsense_Mutation_p.C319*	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	351					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.C351C(1)|p.C351*(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GGTCATGGGCGCAGGCCCCAT	0.517																																						uc010wed.1																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		prostate(1)|lung(1)	ovary(1)	1						c.(1051-1053)TGC>TGA		F-box and leucine-rich repeat protein 20							89.0	75.0	80.0					17																	37420578		2203	4300	6503	SO:0001587	stop_gained	84961					cytoplasm		g.chr17:37420578G>T	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.1053C>A	17.37:g.37420578G>T	ENSP00000264658:p.Cys351*					FBXL20_uc002hrt.2_Nonsense_Mutation_p.C351*|FBXL20_uc010cvu.2_Nonsense_Mutation_p.C319*	p.C351*	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		14	1274	-			351			LRR 11.		A8K729|Q38J52	Nonsense_Mutation	SNP	ENST00000264658.6	37	c.1053C>A	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494843	0.85069	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	.	.	.	5.4	-5.92	0.02261	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2949	0.82765	0.3488:0.0:0.6512:0.0	.	.	.	.	X	351;319	.	ENSP00000264658:C351X	C	-	3	2	FBXL20	34674104	0.000000	0.05858	0.928000	0.36995	0.938000	0.57974	-1.958000	0.01519	-0.995000	0.03459	-1.305000	0.01319	TGC		PASS	0.517	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		59	79	59	79	---	---	---	---
KRT17	3872	broad.mit.edu	37	17	39778625	39778625	+	Silent	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:39778625C>A	ENST00000311208.8	-	3	721	c.654G>T	c.(652-654)ctG>ctT	p.L218L	JUP_ENST00000540235.1_Silent_p.L377L	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	218	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)	p.L218L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGTTCTTCTTCAGGTAGGCCA	0.622																																					Pancreas(92;1242 2086 39193 50508)	uc002hxh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(652-654)CTG>CTT		keratin 17							57.0	60.0	59.0					17																	39778625		2203	4296	6499	SO:0001819	synonymous_variant	3872	Steatocystoma_Multiplex			epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39778625C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.654G>T	17.37:g.39778625C>A						JUP_uc010wfs.1_Intron	p.L218L	NM_000422	NP_000413	Q04695	K1C17_HUMAN			3	775	-		Breast(137;0.000307)	218			Coil 1B.|Rod.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	c.654G>T	CCDS11402.1																																																																																				PASS	0.622	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		8	114	8	114	---	---	---	---
AOC3	8639	broad.mit.edu	37	17	41007479	41007479	+	Silent	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:41007479C>A	ENST00000308423.2	+	3	2065	c.1905C>A	c.(1903-1905)acC>acA	p.T635T	AOC3_ENST00000591562.1_Silent_p.T92T	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	635					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.T635T(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TGGCTGTGACCCAGCGGAAGG	0.552																																					NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1903-1905)ACC>ACA		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						49.0	48.0	48.0					17																	41007479		2203	4300	6503	SO:0001819	synonymous_variant	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41007479C>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1905C>A	17.37:g.41007479C>A							p.T635T	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	3	2065	+		Breast(137;0.000143)	635			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	ENST00000308423.2	37	c.1905C>A	CCDS11444.1																																																																																				PASS	0.552	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		7	16	7	16	---	---	---	---
MPP3	4356	broad.mit.edu	37	17	41891393	41891393	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:41891393C>A	ENST00000398389.4	-	16	1406	c.1241G>T	c.(1240-1242)gGc>gTc	p.G414V	MPP3_ENST00000398393.1_Missense_Mutation_p.G439V|MPP3_ENST00000475450.1_5'UTR	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	414	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)	p.G414V(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		AACAGCGACGCCAAAGTGCTG	0.542																																						uc002iei.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1240-1242)GGC>GTC		palmitoylated membrane protein 3							101.0	103.0	102.0					17																	41891393		1970	4156	6126	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41891393C>A		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1241G>T	17.37:g.41891393C>A	ENSP00000381425:p.Gly414Val					MPP3_uc002ieh.2_Missense_Mutation_p.G439V|MPP3_uc002iej.2_RNA	p.G414V	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	16	1407	-		Breast(137;0.00394)	414			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1241G>T	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050390	0.55218	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.46819	0.86;0.86	4.86	3.87	0.44632	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.239506	0.42682	D	0.000674	T	0.66655	0.2811	M	0.80616	2.505	0.58432	D	0.999999	P;D	0.55800	0.934;0.973	P;P	0.62491	0.903;0.903	T	0.71533	-0.4564	10	0.56958	D	0.05	.	13.8471	0.63474	0.0:0.8479:0.1521:0.0	.	414;439	Q13368;D3DX46	MPP3_HUMAN;.	V	439;414	ENSP00000381430:G439V;ENSP00000381425:G414V	ENSP00000381425:G414V	G	-	2	0	MPP3	39246919	0.992000	0.36948	0.979000	0.43373	0.882000	0.50991	2.661000	0.46758	1.237000	0.43756	0.561000	0.74099	GGC		PASS	0.542	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		62	117	62	117	---	---	---	---
DCAKD	79877	broad.mit.edu	37	17	43107538	43107538	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:43107538T>C	ENST00000452796.2	-	3	581	c.326A>G	c.(325-327)tAc>tGc	p.Y109C	DCAKD_ENST00000588499.1_Missense_Mutation_p.Y109C|DCAKD_ENST00000342350.5_Missense_Mutation_p.Y109C			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	109	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)	p.Y109C(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				CAGAATCACGTAGCGGTATCC	0.537																																						uc002ihx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)TAC>TGC		dephospho-CoA kinase domain containing							189.0	164.0	173.0					17																	43107538		2203	4300	6503	SO:0001583	missense	79877				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity	g.chr17:43107538T>C	BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.326A>G	17.37:g.43107538T>C	ENSP00000413483:p.Tyr109Cys					DCAKD_uc010daa.1_Missense_Mutation_p.Y109C|DCAKD_uc010dab.1_Missense_Mutation_p.Y109C	p.Y109C	NM_024819	NP_079095	Q8WVC6	DCAKD_HUMAN			3	582	-		Prostate(33;0.155)	109			DPCK.		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	ENST00000452796.2	37	c.326A>G	CCDS11493.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.485941	0.63962	.	.	ENSG00000172992	ENST00000342350;ENST00000452796	T;T	0.45276	0.9;0.9	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	M	0.75777	2.31	0.80722	D	1	P	0.41080	0.737	B	0.41135	0.348	T	0.54682	-0.8257	10	0.54805	T	0.06	-9.1618	15.6624	0.77197	0.0:0.0:0.0:1.0	.	109	Q8WVC6	DCAKD_HUMAN	C	109	ENSP00000341504:Y109C;ENSP00000413483:Y109C	ENSP00000341504:Y109C	Y	-	2	0	DCAKD	40463064	1.000000	0.71417	0.986000	0.45419	0.930000	0.56654	7.965000	0.87945	2.100000	0.63781	0.448000	0.29417	TAC		PASS	0.537	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449066.1	NM_024819		86	135	86	135	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62018584	62018584	+	Missense_Mutation	SNP	C	C	A	rs200613051		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:62018584C>A	ENST00000435607.1	-	24	5134	c.5058G>T	c.(5056-5058)gaG>gaT	p.E1686D	SCN4A_ENST00000578147.1_Missense_Mutation_p.E1686D	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1686					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E1686D(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACCCAGGACCTCTTTGGTCA	0.567																																						uc002jds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(5056-5058)GAG>GAT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						120.0	116.0	117.0					17																	62018584		2079	4205	6284	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018584C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5058G>T	17.37:g.62018584C>A	ENSP00000396320:p.Glu1686Asp						p.E1686D	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	5135	-			1686					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.5058G>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804931	0.31961	.	.	ENSG00000007314	ENST00000435607	D	0.96300	-3.97	3.89	1.87	0.25490	.	0.101773	0.64402	D	0.000003	D	0.90157	0.6924	L	0.27975	0.815	0.46241	D	0.998949	B	0.33135	0.399	B	0.26310	0.068	D	0.85343	0.1097	10	0.56958	D	0.05	.	7.4252	0.27094	0.0:0.6867:0.0:0.3133	.	1686	P35499	SCN4A_HUMAN	D	1686	ENSP00000396320:E1686D	ENSP00000396320:E1686D	E	-	3	2	SCN4A	59372316	0.023000	0.18921	1.000000	0.80357	0.989000	0.77384	-0.078000	0.11375	0.431000	0.26258	0.561000	0.74099	GAG		PASS	0.567	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		56	177	56	177	---	---	---	---
BAHCC1	57597	broad.mit.edu	37	17	79414562	79414562	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:79414562C>T	ENST00000307745.7	+	15	3664	c.3664C>T	c.(3664-3666)Cct>Tct	p.P1222S															p.P1222S(1)									GCAGCCGGCCCCTGAGGAGGA	0.697																																						uc002kaf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3664-3666)CCT>TCT		BAH domain and coiled-coil containing 1							13.0	20.0	18.0					17																	79414562		2088	4187	6275	SO:0001583	missense	57597						DNA binding	g.chr17:79414562C>T																												ENST00000307745.7:c.3664C>T	17.37:g.79414562C>T	ENSP00000303486:p.Pro1222Ser					BAHCC1_uc002kae.2_Missense_Mutation_p.P452S	p.P1222S	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		9	3664	+	all_neural(118;0.0804)|Melanoma(429;0.242)		1222						Missense_Mutation	SNP	ENST00000307745.7	37	c.3664C>T		.	.	.	.	.	.	.	.	.	.	C	8.869	0.948790	0.18356	.	.	ENSG00000171282	ENST00000307745	T	0.26518	1.73	3.38	2.4	0.29515	.	0.865736	0.09571	N	0.784133	T	0.23210	0.0561	L	0.60455	1.87	0.09310	N	1	P;B	0.34522	0.455;0.006	B;B	0.27608	0.081;0.002	T	0.16748	-1.0392	10	0.66056	D	0.02	.	7.0397	0.25013	0.0:0.7085:0.181:0.1105	.	1222;1222	Q9P281;F8WBW8	BAHC1_HUMAN;.	S	1222	ENSP00000303486:P1222S	ENSP00000303486:P1222S	P	+	1	0	AC110285.1	77029157	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.266000	0.33039	0.157000	0.19338	-1.268000	0.01426	CCT		PASS	0.697	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	7	3	7	---	---	---	---
P4HB	5034	broad.mit.edu	37	17	79813047	79813047	+	Missense_Mutation	SNP	C	C	G	rs199956742		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:79813047C>G	ENST00000331483.4	-	4	817	c.595G>C	c.(595-597)Gac>Cac	p.D199H	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Missense_Mutation_p.D155H	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	199					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)	p.D199H(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CCATCTTTGTCGAGCTGGTAT	0.542																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)GAC>CAC		prolyl 4-hydroxylase, beta subunit precursor							257.0	229.0	238.0					17																	79813047		2203	4300	6503	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79813047C>G	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.595G>C	17.37:g.79813047C>G	ENSP00000327801:p.Asp199His					P4HB_uc002kbm.1_5'UTR	p.D199H	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		4	792	-	all_neural(118;0.0878)|Ovarian(332;0.12)		199					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.595G>C	CCDS11787.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383939	0.25031	.	.	ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463	T	0.23950	1.88	4.58	0.19	0.15125	Thioredoxin-like fold (2);	0.839514	0.11281	N	0.580286	T	0.28267	0.0698	M	0.79926	2.475	0.09310	N	1	B	0.09022	0.002	B	0.16289	0.015	T	0.31833	-0.9929	10	0.49607	T	0.09	.	5.7012	0.17883	0.0:0.4515:0.1506:0.3979	.	199	P07237	PDIA1_HUMAN	H	199;142;183	ENSP00000327801:D199H	ENSP00000327801:D199H	D	-	1	0	P4HB	77406336	0.795000	0.28851	0.003000	0.11579	0.962000	0.63368	1.447000	0.35101	-0.177000	0.10690	0.462000	0.41574	GAC		PASS	0.542	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		10	585	10	585	---	---	---	---
HEXDC	284004	broad.mit.edu	37	17	80400154	80400154	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:80400154A>C	ENST00000327949.9	+	12	1366	c.1355A>C	c.(1354-1356)cAc>cCc	p.H452P	HEXDC_ENST00000577944.1_Silent_p.A454A|HEXDC_ENST00000337014.6_Missense_Mutation_p.T482P			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	452					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)	p.T482P(4)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAAAACGTGCACCCCAGCCTG	0.677																																						uc002kew.2																			4	Substitution - Missense(4)		lung(2)|kidney(2)	ovary(1)|skin(1)	2						c.(1354-1356)CAC>CCC		SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;							19.0	23.0	22.0					17																	80400154		2027	4180	6207	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80400154A>C	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1355A>C	17.37:g.80400154A>C	ENSP00000332634:p.His452Pro					HEXDC_uc002kev.3_Missense_Mutation_p.T482P|HEXDC_uc010diq.2_Silent_p.A454A|HEXDC_uc010wvm.1_RNA	p.H452P			Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		12	1406	+	Breast(20;0.00106)|all_neural(118;0.0804)		452					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.1355A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.539|9.539	1.112830|1.112830	0.20795|0.20795	.|.	.|.	ENSG00000169660|ENSG00000169660	ENST00000327949|ENST00000337014	T|T	0.30182|0.38077	1.54|1.16	5.25|5.25	-6.61|-6.61	0.01818|0.01818	.|.	.|36.350000	.|0.00166	.|N	.|0.000000	T|T	0.29355|0.29355	0.0731|0.0731	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|D	0.47604|0.53151	0.898|0.958	B|P	0.41271|0.47981	0.352|0.563	T|T	0.44862|0.44862	-0.9300|-0.9300	8|8	0.36615|.	T|.	0.2|.	-1.361|-1.361	1.0988|1.0988	0.01679|0.01679	0.252:0.1099:0.3008:0.3374|0.252:0.1099:0.3008:0.3374	.|.	452|482	Q8WVB3|Q8WVB3-2	HEXDC_HUMAN|.	P|P	452|482	ENSP00000332634:H452P|ENSP00000337854:T482P	ENSP00000332634:H452P|.	H|T	+|+	2|1	0|0	HEXDC|HEXDC	77993443|77993443	0.001000|0.001000	0.12720|0.12720	0.039000|0.039000	0.18376|0.18376	0.795000|0.795000	0.44927|0.44927	0.116000|0.116000	0.15561|0.15561	-1.797000|-1.797000	0.01252|0.01252	-0.496000|-0.496000	0.04628|0.04628	CAC|ACC		PASS	0.677	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		5	14	5	14	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	334876	334876	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr18:334876G>C	ENST00000400256.3	-	6	1889	c.1682C>G	c.(1681-1683)cCt>cGt	p.P561R		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	561	Collagen-like 3.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.P561R(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CAGTCCCCGAGGTCCAGGCAC	0.741																																						uc002kkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1681-1683)CCT>CGT		collectin sub-family member 12							11.0	13.0	13.0					18																	334876		2180	4266	6446	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:334876G>C	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1682C>G	18.37:g.334876G>C	ENSP00000383115:p.Pro561Arg						p.P561R	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			6	1897	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	561			Collagen-like 3.|Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1682C>G	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688330	0.29962	.	.	ENSG00000158270	ENST00000400256	D	0.96011	-3.88	5.53	5.53	0.82687	.	0.159749	0.56097	D	0.000022	D	0.96667	0.8912	L	0.54863	1.705	0.58432	D	0.999996	P	0.52577	0.954	P	0.60012	0.867	D	0.96313	0.9230	10	0.48119	T	0.1	-13.0074	19.4696	0.94958	0.0:0.0:1.0:0.0	.	561	Q5KU26	COL12_HUMAN	R	561	ENSP00000383115:P561R	ENSP00000383115:P561R	P	-	2	0	COLEC12	324876	1.000000	0.71417	0.977000	0.42913	0.081000	0.17604	6.617000	0.74210	2.590000	0.87494	0.561000	0.74099	CCT		PASS	0.741	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			10	9	10	9	---	---	---	---
MYL12B	103910	broad.mit.edu	37	18	3277383	3277383	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr18:3277383C>T	ENST00000581193.1	+	3	700	c.317C>T	c.(316-318)gCc>gTc	p.A106V	MYL12B_ENST00000584539.1_Missense_Mutation_p.A106V|MYL12B_ENST00000400175.5_Missense_Mutation_p.A106V|MYL12B_ENST00000237500.5_Missense_Mutation_p.A106V	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	106	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|regulation of cell shape (GO:0008360)	apical part of cell (GO:0045177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)	p.A106V(1)		breast(1)|large_intestine(1)|lung(2)	4						ATCAGAAACGCCTTTGCTTGC	0.433																																						uc010dkl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)GCC>GTC		myosin regulatory light chain MRCL2 isoform A							127.0	110.0	116.0					18																	3277383		2203	4300	6503	SO:0001583	missense	103910				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding	g.chr18:3277383C>T	AY320408	CCDS11831.1	18p11.31	2013-01-10			ENSG00000118680	ENSG00000118680		"""Myosins / Light chain"", ""EF-hand domain containing"""	29827	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2"""	609211				11942626	Standard	NM_033546		Approved	MRLC2	uc002klt.4	O14950	OTTHUMG00000131510	ENST00000581193.1:c.317C>T	18.37:g.3277383C>T	ENSP00000463559:p.Ala106Val					MYL12B_uc002klt.3_Missense_Mutation_p.A84V|MYL12B_uc010wyv.1_Missense_Mutation_p.A106V	p.A106V	NM_001144944	NP_001138416	O14950	ML12B_HUMAN			3	476	+			106			EF-hand 2.		D3DUH6|Q13182|Q7Z5Z4	Missense_Mutation	SNP	ENST00000581193.1	37	c.317C>T	CCDS11831.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476135	0.84640	.	.	ENSG00000118680	ENST00000237500;ENST00000400177;ENST00000400175;ENST00000400174	T;T	0.70749	-0.51;-0.51	5.66	5.66	0.87406	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81550	0.4846	M	0.92784	3.345	0.80722	D	1	B	0.30664	0.289	B	0.40825	0.341	T	0.82922	-0.0217	10	0.66056	D	0.02	.	13.348	0.60584	0.0:0.9279:0.0:0.0721	.	106	O14950	ML12B_HUMAN	V	106	ENSP00000237500:A106V;ENSP00000383037:A106V	ENSP00000237500:A106V	A	+	2	0	MYL12B	3267383	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	5.987000	0.70571	2.832000	0.97577	0.655000	0.94253	GCC		PASS	0.433	MYL12B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258908.1	NM_033546		102	135	102	135	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21390438	21390438	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr18:21390438C>T	ENST00000313654.9	+	13	1953	c.1712C>T	c.(1711-1713)tCa>tTa	p.S571L	LAMA3_ENST00000399516.3_Missense_Mutation_p.S571L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	571	Domain V.|Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.S571L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGGTGTCTCTCAGGAGCTTAT	0.552																																						uc002kuq.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1711-1713)TCA>TTA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						96.0	107.0	104.0					18																	21390438		2023	4195	6218	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21390438C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1712C>T	18.37:g.21390438C>T	ENSP00000324532:p.Ser571Leu					LAMA3_uc002kur.2_Missense_Mutation_p.S571L	p.S571L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			13	1798	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		571			Domain V.|Laminin EGF-like 5.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1712C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090993	0.55968	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.61980	0.06;0.06	5.02	4.14	0.48551	EGF-like, laminin (4);	.	.	.	.	T	0.57710	0.2072	L	0.42686	1.345	0.80722	D	1	B;B	0.27286	0.174;0.056	B;B	0.34385	0.181;0.046	T	0.57682	-0.7769	9	0.45353	T	0.12	.	13.4729	0.61290	0.0:0.9229:0.0:0.0771	.	571;571	Q6VU67;Q16787	.;LAMA3_HUMAN	L	571;571;569	ENSP00000324532:S571L;ENSP00000382432:S571L	ENSP00000324532:S571L	S	+	2	0	LAMA3	19644436	0.998000	0.40836	0.980000	0.43619	0.991000	0.79684	4.108000	0.57817	1.339000	0.45563	0.561000	0.74099	TCA		PASS	0.552	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		41	75	41	75	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22806383	22806383	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr18:22806383T>A	ENST00000361524.3	-	4	1647	c.1499A>T	c.(1498-1500)cAt>cTt	p.H500L	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.H500L|ZNF521_ENST00000584787.1_Missense_Mutation_p.H280L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	500					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.H500L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCAAATCCATGAGAACATCG	0.443			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1498-1500)CAT>CTT		zinc finger protein 521							95.0	95.0	95.0					18																	22806383		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806383T>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1499A>T	18.37:g.22806383T>A	ENSP00000354794:p.His500Leu					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.H500L|ZNF521_uc002kvl.2_Missense_Mutation_p.H280L	p.H500L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1746	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		500			C2H2-type 11.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1499A>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562811	0.27915	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.26957	1.7;1.7	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.32530	0.975	0.52501	D	0.999959	D	0.89917	1.0	D	0.85130	0.997	T	0.08166	-1.0735	10	0.27785	T	0.31	-21.3881	16.6127	0.84892	0.0:0.0:0.0:1.0	.	500	Q96K83	ZN521_HUMAN	L	500;534;500	ENSP00000354794:H500L;ENSP00000382352:H500L	ENSP00000354794:H500L	H	-	2	0	ZNF521	21060381	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.698000	0.84413	2.322000	0.78497	0.528000	0.53228	CAT		PASS	0.443	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		58	113	58	113	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28989767	28989767	+	Silent	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr18:28989767C>T	ENST00000308128.4	+	14	2268	c.2133C>T	c.(2131-2133)tcC>tcT	p.S711S	DSG4_ENST00000359747.4_Intron|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	711					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S711S(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGATGGATTCCTCTGGTCAGT	0.343																																						uc002kwq.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|ovary(3)	8						c.(2131-2133)TCC>TCT		desmoglein 4 isoform 2 preproprotein							76.0	73.0	74.0					18																	28989767		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28989767C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2133C>T	18.37:g.28989767C>T						DSG4_uc002kwr.2_Intron	p.S711S	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		14	2268	+			711			Cytoplasmic (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.2133C>T	CCDS11897.1																																																																																				PASS	0.343	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		34	65	34	65	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65180602	65180602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr18:65180602C>T	ENST00000310045.7	-	2	2747	c.1274G>A	c.(1273-1275)tGg>tAg	p.W425*	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	415					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.W425*(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AACCACACCCCAGTTAGGGAA	0.478																																						uc002lke.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(1273-1275)TGG>TAG		dermatan sulfate epimerase-like							79.0	66.0	71.0					18																	65180602		2203	4300	6503	SO:0001587	stop_gained	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180602C>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1274G>A	18.37:g.65180602C>T	ENSP00000310565:p.Trp425*						p.W425*	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	2498	-		Esophageal squamous(42;0.129)	415					Q17RH1|Q6P5Z3	Nonsense_Mutation	SNP	ENST00000310045.7	37	c.1274G>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	50	16.157326	0.99856	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5874	19.3189	0.94229	0.0:1.0:0.0:0.0	.	.	.	.	X	425;415	.	ENSP00000310565:W425X	W	-	2	0	DSEL	63331582	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.633000	0.83260	2.577000	0.86979	0.563000	0.77884	TGG		PASS	0.478	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		6	100	6	100	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76753665	76753665	+	Silent	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr18:76753665C>A	ENST00000537592.2	+	2	1674	c.1674C>A	c.(1672-1674)ccC>ccA	p.P558P	SALL3_ENST00000536229.3_Silent_p.P425P|SALL3_ENST00000575389.2_Silent_p.P558P	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	558					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P558P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCCCTCGCCCGCCTCCAGCG	0.756																																						uc002lmt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1672-1674)CCC>CCA		sal-like 3							5.0	7.0	6.0					18																	76753665		1983	3936	5919	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753665C>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1674C>A	18.37:g.76753665C>A						SALL3_uc010dra.2_Silent_p.P165P	p.P558P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1674	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	558					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.1674C>A	CCDS12013.1																																																																																				PASS	0.756	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		4	1	4	1	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9065840	9065840	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:9065840G>C	ENST00000397910.4	-	3	21809	c.21606C>G	c.(21604-21606)gaC>gaG	p.D7202E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7204	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D7202E(2)|p.D2835E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCTCTGAGTCAGCTAAGG	0.488																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21604-21606)GAC>GAG		mucin 16							223.0	211.0	215.0					19																	9065840		2099	4227	6326	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065840G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21606C>G	19.37:g.9065840G>C	ENSP00000381008:p.Asp7202Glu						p.D7202E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	21810	-			7204			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21606C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.429	0.447325	0.12223	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.47	-3.71	0.04424	.	.	.	.	.	T	0.19087	0.0458	L	0.55481	1.735	.	.	.	B	0.20052	0.041	B	0.23574	0.047	T	0.42464	-0.9450	8	0.87932	D	0	.	1.0325	0.01541	0.1366:0.1915:0.2843:0.3876	.	7202	B5ME49	.	E	7202	ENSP00000381008:D7202E	ENSP00000381008:D7202E	D	-	3	2	MUC16	8926840	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.925000	0.03992	-0.657000	0.05373	0.195000	0.17529	GAC		PASS	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		110	141	110	141	---	---	---	---
OR7D2	162998	broad.mit.edu	37	19	9297382	9297382	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:9297382G>T	ENST00000344248.2	+	1	1104	c.925G>T	c.(925-927)Gcc>Tcc	p.A309S		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	309					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A309S(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CAGCAGGGCAGCCTCTTGTTT	0.468																																						uc002mkz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(925-927)GCC>TCC		olfactory receptor, family 7, subfamily D,							35.0	37.0	37.0					19																	9297382		2201	4299	6500	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9297382G>T	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.925G>T	19.37:g.9297382G>T	ENSP00000345563:p.Ala309Ser						p.A309S	NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN			1	1113	+			309			Cytoplasmic (Potential).		Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.925G>T	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	g	0.262	-0.999200	0.02128	.	.	ENSG00000188000	ENST00000344248	T	0.02177	4.41	2.2	-4.41	0.03590	.	2.918020	0.01877	U	0.037614	T	0.01905	0.0060	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.46596	-0.9180	10	0.12103	T	0.63	.	6.3023	0.21119	0.2568:0.0:0.6091:0.1341	.	309	Q96RA2	OR7D2_HUMAN	S	309	ENSP00000345563:A309S	ENSP00000345563:A309S	A	+	1	0	OR7D2	9158382	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.994000	0.01474	-2.597000	0.00453	-1.401000	0.01141	GCC		PASS	0.468	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			32	42	32	42	---	---	---	---
OLFM2	93145	broad.mit.edu	37	19	9968144	9968144	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:9968144C>A	ENST00000264833.4	-	4	560	c.375G>T	c.(373-375)agG>agT	p.R125S	OLFM2_ENST00000590841.1_Missense_Mutation_p.R47S	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	125					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.R125S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GTTCCGTCATCCTGTCCTTCA	0.572																																						uc002mmp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(373-375)AGG>AGT		olfactomedin 2 precursor							85.0	75.0	78.0					19																	9968144		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9968144C>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.375G>T	19.37:g.9968144C>A	ENSP00000264833:p.Arg125Ser					OLFM2_uc002mmo.2_Missense_Mutation_p.R47S	p.R125S	NM_058164	NP_477512	O95897	NOE2_HUMAN			4	403	-			125					Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.375G>T	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620226	0.28801	.	.	ENSG00000105088	ENST00000264833	D	0.87650	-2.28	4.1	1.9	0.25705	.	0.055561	0.64402	D	0.000001	T	0.68659	0.3025	N	0.08118	0	0.30573	N	0.76326	B	0.15141	0.012	B	0.12156	0.007	T	0.58945	-0.7546	9	.	.	.	.	6.2898	0.21053	0.0:0.682:0.0:0.318	.	125	O95897	NOE2_HUMAN	S	125	ENSP00000264833:R125S	.	R	-	3	2	OLFM2	9829144	0.985000	0.35326	1.000000	0.80357	0.752000	0.42762	0.279000	0.18771	0.953000	0.37825	0.462000	0.41574	AGG		PASS	0.572	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			16	34	16	34	---	---	---	---
S1PR2	9294	broad.mit.edu	37	19	10334967	10334967	+	Silent	SNP	G	G	A	rs200948899		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:10334967G>A	ENST00000590320.1	-	2	725	c.615C>T	c.(613-615)atC>atT	p.I205I	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	205					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.I205I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACAGGGCCACGATGGCCAACA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		20405	0.001		0.0	False		,,,				2504	0.0				Pancreas(194;229 3020 15179 45747)	uc002mnl.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(613-615)ATC>ATT		endothelial differentiation, sphingolipid							82.0	67.0	72.0					19																	10334967		2203	4300	6503	SO:0001819	synonymous_variant	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10334967G>A	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.615C>T	19.37:g.10334967G>A							p.I205I	NM_004230	NP_004221	O95136	S1PR2_HUMAN			2	726	-			205			Helical; Name=5; (By similarity).		Q86UN8	Silent	SNP	ENST00000590320.1	37	c.615C>T	CCDS12229.1																																																																																				PASS	0.627	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		7	53	7	53	---	---	---	---
ICAM4	3386	broad.mit.edu	37	19	10398376	10398376	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:10398376G>T	ENST00000380770.3	+	2	605	c.559G>T	c.(559-561)Gat>Tat	p.D187Y	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Missense_Mutation_p.G161V|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000393717.2_Missense_Mutation_p.D187Y	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	187	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)	p.G161V(1)		breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CACCGGCCTGGATCTGGCCAA	0.632																																						uc002mns.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(559-561)GAT>TAT		intercellular adhesion molecule 4 isoform 1							77.0	64.0	69.0					19																	10398376		2203	4300	6503	SO:0001583	missense	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398376G>T	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.559G>T	19.37:g.10398376G>T	ENSP00000370147:p.Asp187Tyr					ICAM4_uc002mnr.1_Missense_Mutation_p.G161V|ICAM4_uc002mnt.1_Missense_Mutation_p.D187Y|ICAM5_uc002mnu.3_5'Flank	p.D187Y	NM_001544	NP_001535	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		2	598	+			187			Ig-like C2-type 2.|Extracellular (Potential).		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	c.559G>T	CCDS12232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.940614|2.940614	0.52972|0.52972	.|.	.|.	ENSG00000105371|ENSG00000105371	ENST00000380770;ENST00000393717|ENST00000340992	T;T|T	0.04119|0.41400	3.7;3.7|1.0	4.53|4.53	-1.77|-1.77	0.07982|0.07982	Immunoglobulin-like fold (1);|.	.|0.934567	.|0.08770	.|U	.|0.896495	T|T	0.27559|0.27559	0.0677|0.0677	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;P|B	0.54047|0.21381	0.964;0.94|0.055	P;P|B	0.53185|0.18263	0.72;0.529|0.021	T|T	0.32508|0.32508	-0.9904|-0.9904	8|9	0.66056|0.87932	D|D	0.02|0	3.9476|3.9476	4.0238|4.0238	0.09678|0.09678	0.3751:0.0:0.469:0.1559|0.3751:0.0:0.469:0.1559	.|.	187;187|161	Q14773-2;Q14773|Q9BWR0	.;ICAM4_HUMAN|.	Y|V	187|161	ENSP00000370147:D187Y;ENSP00000377320:D187Y|ENSP00000342114:G161V	ENSP00000370147:D187Y|ENSP00000342114:G161V	D|G	+|+	1|2	0|0	ICAM4|ICAM4	10259376|10259376	0.000000|0.000000	0.05858|0.05858	0.049000|0.049000	0.19019|0.19019	0.033000|0.033000	0.12548|0.12548	-0.078000|-0.078000	0.11375|0.11375	-0.190000|-0.190000	0.10465|0.10465	0.462000|0.462000	0.41574|0.41574	GAT|GGA		PASS	0.632	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		31	43	31	43	---	---	---	---
ZNF442	79973	broad.mit.edu	37	19	12461833	12461833	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:12461833G>A	ENST00000242804.4	-	6	1148	c.566C>T	c.(565-567)aCc>aTc	p.T189I	ZNF442_ENST00000438182.1_Missense_Mutation_p.T120I	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T189I(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AGAACTGAAGGTTTTCCCACA	0.418																																						uc002mtr.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|breast(1)|kidney(1)	4						c.(565-567)ACC>ATC		zinc finger protein 442							208.0	193.0	198.0					19																	12461833		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461833G>A	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.566C>T	19.37:g.12461833G>A	ENSP00000242804:p.Thr189Ile					ZNF442_uc010xmk.1_Missense_Mutation_p.T120I	p.T189I	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN			6	1177	-			189			C2H2-type 1; degenerate.		B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.566C>T	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702938	0.48412	.	.	ENSG00000198342	ENST00000242804;ENST00000438182;ENST00000424168	T;T;T	0.53640	0.61;0.61;0.61	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44435	0.1293	L	0.35414	1.06	0.09310	N	1	D	0.53462	0.96	P	0.52554	0.702	T	0.29397	-1.0013	9	0.66056	D	0.02	.	7.4953	0.27485	0.0:0.0:1.0:0.0	.	189	Q9H7R0	ZN442_HUMAN	I	189;120;120	ENSP00000242804:T189I;ENSP00000388634:T120I;ENSP00000404935:T120I	ENSP00000242804:T189I	T	-	2	0	ZNF442	12322833	0.000000	0.05858	0.025000	0.17156	0.792000	0.44763	-1.201000	0.03026	0.737000	0.32582	0.313000	0.20887	ACC		PASS	0.418	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		4	234	4	234	---	---	---	---
MAN2B1	4125	broad.mit.edu	37	19	12768935	12768935	+	Silent	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:12768935C>A	ENST00000456935.2	-	10	1291	c.1251G>T	c.(1249-1251)gcG>gcT	p.A417A	MAN2B1_ENST00000221363.4_Silent_p.A416A|MAN2B1_ENST00000495617.1_Intron	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	417					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.A417A(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCCCACCAGCGCCTCCAGCT	0.682																																						uc002mub.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(1249-1251)GCG>GCT		mannosidase, alpha, class 2B, member 1							23.0	28.0	26.0					19																	12768935		2203	4299	6502	SO:0001819	synonymous_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12768935C>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1251G>T	19.37:g.12768935C>A						MAN2B1_uc010dyv.1_Silent_p.A416A	p.A417A	NM_000528	NP_000519	O00754	MA2B1_HUMAN			10	1327	-			417					G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	c.1251G>T	CCDS32919.1																																																																																				PASS	0.682	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			21	18	21	18	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16614123	16614123	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:16614123C>G	ENST00000221671.3	+	3	1163	c.1007C>G	c.(1006-1008)tCc>tGc	p.S336C	C19orf44_ENST00000594035.1_Missense_Mutation_p.S336C|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	336								p.S336C(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTTGTGTCCTCCCCGGGAAGG	0.562																																						uc002neh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1006-1008)TCC>TGC		hypothetical protein LOC84167							74.0	72.0	73.0					19																	16614123		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16614123C>G	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1007C>G	19.37:g.16614123C>G	ENSP00000221671:p.Ser336Cys					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S336C|C19orf44_uc002neg.2_Missense_Mutation_p.S336C|C19orf44_uc010eai.1_RNA	p.S336C	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			3	1080	+			336					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.1007C>G	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	8.553	0.875885	0.17395	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.57	2.36	0.29203	.	0.653467	0.14637	N	0.307457	T	0.54111	0.1838	M	0.66939	2.045	0.09310	N	1	B;D;B	0.76494	0.001;0.999;0.01	B;D;B	0.64237	0.001;0.923;0.017	T	0.40021	-0.9585	9	0.59425	D	0.04	-5.1896	5.5347	0.17005	0.1955:0.7004:0.0:0.1041	.	336;9;336	Q9H6X5;B4DN63;Q9H6X5-2	CS044_HUMAN;.;.	C	336	.	ENSP00000221671:S336C	S	+	2	0	C19orf44	16475123	0.000000	0.05858	0.015000	0.15790	0.043000	0.13939	-0.054000	0.11826	0.350000	0.24002	0.655000	0.94253	TCC		PASS	0.562	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		28	56	28	56	---	---	---	---
MAG	4099	broad.mit.edu	37	19	35804240	35804240	+	Silent	SNP	T	T	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:35804240T>G	ENST00000392213.3	+	11	1923	c.1764T>G	c.(1762-1764)ggT>ggG	p.G588G	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Silent_p.G563G	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	588					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.G588G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCTTCGGGGTGAGCCCCCAG	0.617																																						uc002nyy.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(1762-1764)GGT>GGG		myelin associated glycoprotein isoform a							85.0	80.0	82.0					19																	35804240		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35804240T>G	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1764T>G	19.37:g.35804240T>G						MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Silent_p.G563G|MAG_uc002nyz.1_Silent_p.G588G	p.G588G	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		11	1913	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	588			Cytoplasmic (Potential).		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1764T>G	CCDS12455.1																																																																																				PASS	0.617	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		41	63	41	63	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38937345	38937345	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:38937345A>G	ENST00000359596.3	+	9	737	c.737A>G	c.(736-738)tAt>tGt	p.Y246C	RYR1_ENST00000355481.4_Missense_Mutation_p.Y246C|RYR1_ENST00000360985.3_Missense_Mutation_p.Y246C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	246	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.Y246C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTTGTCTACTATGAGGGGGGA	0.597																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(736-738)TAT>TGT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						62.0	61.0	62.0					19																	38937345		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38937345A>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.737A>G	19.37:g.38937345A>G	ENSP00000352608:p.Tyr246Cys					RYR1_uc002oiu.2_Missense_Mutation_p.Y246C	p.Y246C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	867	+	all_cancers(60;7.91e-06)		246			MIR 3.|Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.737A>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	11.78	1.740183	0.30865	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.87966	-2.32;-2.32;-2.32	4.5	4.5	0.54988	MIR motif (2);MIR (2);	0.000000	0.64402	U	0.000008	D	0.93265	0.7854	M	0.85462	2.755	0.49915	D	0.999833	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	D	0.93988	0.7264	10	0.87932	D	0	.	11.8133	0.52195	1.0:0.0:0.0:0.0	.	246;246	P21817-2;P21817	.;RYR1_HUMAN	C	246	ENSP00000352608:Y246C;ENSP00000347667:Y246C;ENSP00000354254:Y246C	ENSP00000347667:Y246C	Y	+	2	0	RYR1	43629185	1.000000	0.71417	0.999000	0.59377	0.349000	0.29174	8.725000	0.91468	1.904000	0.55121	0.460000	0.39030	TAT		PASS	0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			44	64	44	64	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41063166	41063166	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:41063166G>T	ENST00000352632.3	+	26	5613	c.5527G>T	c.(5527-5529)Gcc>Tcc	p.A1843S	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1843S|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1843S|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1843S|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A586S|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A519S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1843					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A519S(1)|p.A1843S(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTCAGTGACGCCCGAGAGCT	0.662																																						uc002ony.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5527-5529)GCC>TCC		spectrin, beta, non-erythrocytic 4 isoform							26.0	30.0	29.0					19																	41063166		2203	4299	6502	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063166G>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5527G>T	19.37:g.41063166G>T	ENSP00000263373:p.Ala1843Ser					SPTBN4_uc002onx.2_Missense_Mutation_p.A1843S|SPTBN4_uc002onz.2_Missense_Mutation_p.A1843S|SPTBN4_uc010egx.2_Missense_Mutation_p.A586S|SPTBN4_uc002ooa.2_Missense_Mutation_p.A519S	p.A1843S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5613	+			1843			Spectrin 16.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5527G>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666111	0.47677	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	3.63	3.63	0.41609	.	0.197662	0.35936	N	0.002898	T	0.57799	0.2078	L	0.39898	1.24	0.30035	N	0.813159	P;B;P;P	0.45396	0.797;0.174;0.857;0.788	P;B;P;P	0.55161	0.666;0.253;0.541;0.77	T	0.54754	-0.8246	10	0.34782	T	0.22	.	8.8292	0.35074	0.0:0.0:0.6445:0.3555	.	586;519;1843;1843	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	S	1843;1843;1843;586;519	ENSP00000263373:A1843S;ENSP00000340345:A1843S;ENSP00000375879:A586S;ENSP00000375877:A519S	ENSP00000340345:A1843S	A	+	1	0	SPTBN4	45755006	0.359000	0.24955	0.985000	0.45067	0.867000	0.49689	1.563000	0.36364	2.036000	0.60181	0.455000	0.32223	GCC		PASS	0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			15	36	15	36	---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50195642	50195642	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:50195642C>T	ENST00000392518.4	+	3	505	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C	CPT1C_ENST00000598293.1_Missense_Mutation_p.R45C|CPT1C_ENST00000405931.2_Missense_Mutation_p.R45C|CPT1C_ENST00000354199.5_Missense_Mutation_p.R45C|CPT1C_ENST00000323446.5_Missense_Mutation_p.R45C|CTB-33G10.6_ENST00000596472.1_RNA|CPT1C_ENST00000598714.1_3'UTR	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	45					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.R45C(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCATCTCTCACGTTTCTGGGT	0.597																																						uc002ppj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(133-135)CGT>TGT		carnitine palmitoyltransferase 1C isoform 2							65.0	52.0	56.0					19																	50195642		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50195642C>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.133C>T	19.37:g.50195642C>T	ENSP00000376303:p.Arg45Cys					CPT1C_uc002ppl.3_Missense_Mutation_p.R45C|CPT1C_uc002ppi.2_Translation_Start_Site|CPT1C_uc002ppk.2_Missense_Mutation_p.R45C|CPT1C_uc010eng.2_Missense_Mutation_p.R45C|CPT1C_uc010enh.2_Missense_Mutation_p.R45C|CPT1C_uc010ybc.1_Translation_Start_Site	p.R45C	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	2	338	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	45			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.133C>T	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937511	0.73557	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	D;D;D;D	0.87809	-2.3;-2.11;-2.29;-2.3	4.62	3.56	0.40772	.	0.264062	0.18477	N	0.140040	D	0.92622	0.7656	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.984;0.997;0.996	D	0.92571	0.6066	10	0.87932	D	0	.	12.0736	0.53630	0.1739:0.8261:0.0:0.0	.	45;45;45	Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;CPT1C_HUMAN	C	45	ENSP00000376303:R45C;ENSP00000346138:R45C;ENSP00000384465:R45C;ENSP00000319343:R45C	ENSP00000319343:R45C	R	+	1	0	CPT1C	54887454	0.970000	0.33590	0.071000	0.20095	0.973000	0.67179	1.991000	0.40727	1.078000	0.41014	0.456000	0.33151	CGT		PASS	0.597	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		12	29	12	29	---	---	---	---
SIGLEC7	27036	broad.mit.edu	37	19	51647859	51647859	+	Missense_Mutation	SNP	C	C	A	rs549102934		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:51647859C>A	ENST00000317643.6	+	2	699	c.630C>A	c.(628-630)caC>caA	p.H210Q	SIGLEC7_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	210	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.H210Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AGCCCCAGCACCACGGCACCA	0.647																																						uc002pvv.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(628-630)CAC>CAA		sialic acid binding Ig-like lectin 7 isoform 1							55.0	53.0	53.0					19																	51647859		2203	4300	6503	SO:0001583	missense	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51647859C>A	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.630C>A	19.37:g.51647859C>A	ENSP00000323328:p.His210Gln					SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	p.H210Q	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	2	699	+		all_neural(266;0.0199)	210			Ig-like C2-type 1.|Extracellular (Potential).		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	c.630C>A	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	8.930	0.963230	0.18583	.	.	ENSG00000168995	ENST00000317643	T	0.03124	4.04	2.88	1.84	0.25277	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.344745	0.20678	N	0.087705	T	0.03959	0.0111	L	0.42245	1.32	0.80722	D	1	B	0.16166	0.016	B	0.27796	0.083	T	0.34354	-0.9832	10	0.62326	D	0.03	.	5.1829	0.15169	0.0:0.8339:0.0:0.1661	.	210	Q9Y286	SIGL7_HUMAN	Q	210	ENSP00000323328:H210Q	ENSP00000323328:H210Q	H	+	3	2	SIGLEC7	56339671	0.034000	0.19679	0.991000	0.47740	0.365000	0.29674	0.012000	0.13287	1.655000	0.50712	0.516000	0.50304	CAC		PASS	0.647	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		27	35	27	35	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56423270	56423270	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:56423270A>G	ENST00000342929.3	-	5	1912	c.1913T>C	c.(1912-1914)cTt>cCt	p.L638P	NLRP13_ENST00000588751.1_Missense_Mutation_p.L638P	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	638							ATP binding (GO:0005524)	p.L638P(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCAGTGAAAAAGTCGTAGAAT	0.418																																						uc010ygg.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1912-1914)CTT>CCT		NACHT, leucine rich repeat and PYD containing							100.0	94.0	96.0					19																	56423270		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56423270A>G	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1913T>C	19.37:g.56423270A>G	ENSP00000343891:p.Leu638Pro						p.L638P	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1938	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	638					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1913T>C	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.398239	0.25205	.	.	ENSG00000173572	ENST00000342929	D	0.89343	-2.5	2.48	1.43	0.22495	.	.	.	.	.	D	0.91019	0.7175	M	0.62088	1.915	0.09310	N	1	D	0.89917	1.0	D	0.66847	0.947	T	0.80538	-0.1338	9	0.72032	D	0.01	.	4.6621	0.12648	0.8265:0.0:0.1735:0.0	.	638	Q86W25	NAL13_HUMAN	P	638	ENSP00000343891:L638P	ENSP00000343891:L638P	L	-	2	0	NLRP13	61115082	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.027000	0.12371	0.195000	0.20347	-0.451000	0.05528	CTT		PASS	0.418	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		62	118	62	118	---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58573067	58573067	+	Silent	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:58573067C>A	ENST00000313434.5	+	3	254	c.153C>A	c.(151-153)gtC>gtA	p.V51V	ZNF135_ENST00000401053.4_Silent_p.V63V|ZNF135_ENST00000506786.1_Silent_p.V9V|ZNF135_ENST00000359978.6_Silent_p.V63V|ZNF135_ENST00000439855.2_Silent_p.V51V|ZNF135_ENST00000511556.1_Silent_p.V51V	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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)	p.V51V(1)|p.V63V(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGCTTCTGGTCTCTGTGGGTA	0.517																																						uc010yhq.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(151-153)GTC>GTA		zinc finger protein 135 isoform 2							181.0	172.0	175.0					19																	58573067		2203	4300	6503	SO:0001819	synonymous_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58573067C>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.153C>A	19.37:g.58573067C>A						ZNF135_uc002qre.2_Silent_p.V51V|ZNF135_uc002qrd.1_Silent_p.V9V|ZNF135_uc002qrf.2_Silent_p.V9V|ZNF135_uc002qrg.2_Silent_p.V9V|ZNF135_uc010yhr.1_Intron	p.V51V	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	3	249	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	51					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37	c.153C>A		.	.	.	.	.	.	.	.	.	.	C	3.513	-0.099370	0.07010	.	.	ENSG00000176293	ENST00000391699	.	.	.	2.51	-2.38	0.06622	.	.	.	.	.	T	0.21674	0.0522	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.29792	-1.0000	4	.	.	.	.	4.4394	0.11566	0.0:0.4953:0.1702:0.3345	.	.	.	.	Y	57	.	.	S	+	2	0	ZNF135	63264879	0.000000	0.05858	0.002000	0.10522	0.122000	0.20287	-1.086000	0.03386	-0.428000	0.07339	-0.670000	0.03821	TCT		PASS	0.517	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		89	119	89	119	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8709735	8709735	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr20:8709735G>T	ENST00000338037.6	+	18	1829	c.1802G>T	c.(1801-1803)gGa>gTa	p.G601V	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.G601V|PLCB1_ENST00000378641.3_Missense_Mutation_p.G601V	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	601	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.G601V(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TATCCAAAAGGAACACGTGTG	0.358																																						uc002wnb.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1801-1803)GGA>GTA		phosphoinositide-specific phospholipase C beta 1							140.0	120.0	127.0					20																	8709735		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8709735G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1802G>T	20.37:g.8709735G>T	ENSP00000338185:p.Gly601Val					PLCB1_uc010zrb.1_Missense_Mutation_p.G500V|PLCB1_uc002wna.2_Missense_Mutation_p.G601V|PLCB1_uc002wnc.1_Missense_Mutation_p.G500V|PLCB1_uc002wnd.1_Missense_Mutation_p.G178V	p.G601V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			18	1805	+			601			PI-PLC Y-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1802G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931603	0.92389	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.59224	0.28;0.28;0.28	5.83	5.83	0.93111	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.104481	0.64402	D	0.000003	D	0.84428	0.5470	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.981;1.0	D	0.88263	0.2924	10	0.87932	D	0	.	20.1208	0.97960	0.0:0.0:1.0:0.0	.	601;601	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	V	601;601;601;521;521	ENSP00000367908:G601V;ENSP00000338185:G601V;ENSP00000367904:G601V	ENSP00000338185:G601V	G	+	2	0	PLCB1	8657735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.758000	0.94735	0.655000	0.94253	GGA		PASS	0.358	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			40	75	40	75	---	---	---	---
BTBD3	22903	broad.mit.edu	37	20	11903423	11903424	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr20:11903423_11903424TG>CT	ENST00000405977.1	+	5	1303_1304	c.678_679TG>CT	c.(676-681)tgTGtg>tgCTtg	p.V227L	BTBD3_ENST00000378226.2_Missense_Mutation_p.V227L|BTBD3_ENST00000254977.3_Missense_Mutation_p.V166L|BTBD3_ENST00000399006.2_Missense_Mutation_p.V166L|BTBD3_ENST00000488503.1_3'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	227					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.V227L(2)|p.C226C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AGAATGCCTGTGTGCTCCTCTC	0.554																																						uc002wnz.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|central_nervous_system(1)	3						c.(676-678)TGT>TGC|c.(679-681)GTG>TTG		BTB/POZ domain containing protein 3 isoform a																																				SO:0001583	missense	22903							g.chr20:11903423T>C|g.chr20:11903424G>T	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	Exception_encountered	20.37:g.11903423_11903424delinsCT	ENSP00000384545:p.Val227Leu					BTBD3_uc002wny.2_Silent_p.C165C|BTBD3_uc002woa.2_Silent_p.C165C|BTBD3_uc010zrf.1_Silent_p.C75C|BTBD3_uc010zrg.1_Silent_p.C75C|BTBD3_uc010zrh.1_Silent_p.C75C|BTBD3_uc002wny.2_Missense_Mutation_p.V166L|BTBD3_uc002woa.2_Missense_Mutation_p.V166L|BTBD3_uc010zrf.1_Missense_Mutation_p.V76L|BTBD3_uc010zrg.1_Missense_Mutation_p.V76L|BTBD3_uc010zrh.1_Missense_Mutation_p.V76L	p.C226C|p.V227L	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN			4	1037|1038	+			226|227					D3DW19|Q5JY73	Silent|Missense_Mutation	SNP	ENST00000405977.1	37	c.678T>C|c.679G>T	CCDS13113.1																																																																																				PASS	0.554	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			42	76|74	42	74	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33637788	33637788	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr20:33637788C>A	ENST00000252015.2	-	6	627	c.538G>T	c.(538-540)Gtt>Ttt	p.V180F	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.V141F|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.V180F			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	180	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.V180F(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CGCTTTGTAACTCCCTCTGTC	0.363																																						uc002xbk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(538-540)GTT>TTT		TRPC4-associated protein isoform a							103.0	96.0	99.0					20																	33637788		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33637788C>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.538G>T	20.37:g.33637788C>A	ENSP00000252015:p.Val180Phe					TRPC4AP_uc002xbl.2_Missense_Mutation_p.V180F|TRPC4AP_uc010zur.1_Missense_Mutation_p.V141F|TRPC4AP_uc002xbm.1_Missense_Mutation_p.V180F	p.V180F	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		6	572	-			180			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.538G>T	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385608	0.82792	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	T;T;T	0.29142	1.58;1.58;1.58	5.65	5.65	0.86999	.	0.110120	0.64402	D	0.000008	T	0.45955	0.1368	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;P;P	0.78314	0.991;0.829;0.829	T	0.13818	-1.0495	10	0.36615	T	0.2	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	141;180;180	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	F	180;180;141;165	ENSP00000252015:V180F;ENSP00000400614:V180F;ENSP00000400497:V141F	ENSP00000252015:V180F	V	-	1	0	TRPC4AP	33101449	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	GTT		PASS	0.363	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		53	142	53	142	---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42815135	42815135	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr20:42815135C>A	ENST00000372980.3	-	1	1083	c.211G>T	c.(211-213)Ggg>Tgg	p.G71W	JPH2_ENST00000342272.3_Missense_Mutation_p.G71W	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	71	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.G71W(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATGCCCAGCCCATGCCGTTTG	0.597																																						uc002xli.1																			2	Substitution - Missense(2)		lung(2)		0						c.(211-213)GGG>TGG		junctophilin 2 isoform 1							117.0	89.0	99.0					20																	42815135		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42815135C>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.211G>T	20.37:g.42815135C>A	ENSP00000362071:p.Gly71Trp					JPH2_uc002xlj.2_Missense_Mutation_p.G71W	p.G71W	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	1084	-		Myeloproliferative disorder(115;0.0122)	71			Gly-rich.|MORN 3.|Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.211G>T	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	23.1	4.377735	0.82682	.	.	ENSG00000149596	ENST00000372980;ENST00000342272	D;D	0.93953	-3.32;-3.32	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.98317	0.9442	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99889	1.1131	10	0.87932	D	0	.	17.4072	0.87477	0.0:1.0:0.0:0.0	.	71;71	Q9BR39-2;Q9BR39	.;JPH2_HUMAN	W	71	ENSP00000362071:G71W;ENSP00000344590:G71W	ENSP00000344590:G71W	G	-	1	0	JPH2	42248549	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.452000	0.80683	2.096000	0.63516	0.550000	0.68814	GGG		PASS	0.597	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			21	62	21	62	---	---	---	---
RIMS4	140730	broad.mit.edu	37	20	43438895	43438895	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr20:43438895G>T	ENST00000372851.3	-	1	84	c.18C>A	c.(16-18)agC>agA	p.S6R	RIMS4_ENST00000541604.2_Missense_Mutation_p.S6R	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	6					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.S6R(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GACTGAGGCGGCTCTGCGAGC	0.751																																						uc002xms.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(16-18)AGC>AGA		regulating synaptic membrane exocytosis 4							9.0	9.0	9.0					20																	43438895		2161	4249	6410	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43438895G>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.18C>A	20.37:g.43438895G>T	ENSP00000361942:p.Ser6Arg					RIMS4_uc010ggu.2_Missense_Mutation_p.S6R	p.S6R	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN			1	18	-		Myeloproliferative disorder(115;0.0122)	6					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.18C>A	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	8.753	0.921660	0.17982	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.24151	1.87;1.96	2.63	1.64	0.23874	.	0.174618	0.47852	U	0.000217	T	0.11196	0.0273	N	0.16790	0.44	0.38241	D	0.941324	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31392	-0.9945	10	0.02654	T	1	.	8.2264	0.31570	0.132:0.0:0.868:0.0	.	6;6	E1P613;Q9H426	.;RIMS4_HUMAN	R	6	ENSP00000361942:S6R;ENSP00000439287:S6R	ENSP00000361942:S6R	S	-	3	2	RIMS4	42872309	1.000000	0.71417	0.999000	0.59377	0.592000	0.36648	3.409000	0.52657	0.204000	0.20548	0.289000	0.19496	AGC		PASS	0.751	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		6	4	6	4	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10914395	10914395	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr21:10914395C>A	ENST00000361285.4	-	21	1653	c.1324G>T	c.(1324-1326)Gtc>Ttc	p.V442F	TPTE_ENST00000342420.5_Missense_Mutation_p.V404F|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.V424F	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	442	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V442F(1)|p.V424F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGGAAAAGACAACCTTTTTC	0.323																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1324-1326)GTC>TTC		transmembrane phosphatase with tensin homology							92.0	79.0	84.0					21																	10914395		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10914395C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1324G>T	21.37:g.10914395C>A	ENSP00000355208:p.Val442Phe					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V424F|TPTE_uc002yir.1_Missense_Mutation_p.V404F|TPTE_uc010gkv.1_Missense_Mutation_p.V304F	p.V442F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	21	1692	-			442			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1324G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	11.54	1.670396	0.29693	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.87179	-2.22;-2.22;-2.22	2.15	-1.0	0.10196	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.204736	0.40469	U	0.001086	D	0.90363	0.6984	M	0.79475	2.455	0.09310	N	0.999997	D;D;B	0.76494	0.998;0.999;0.447	D;D;B	0.76575	0.988;0.988;0.439	T	0.81858	-0.0739	10	0.87932	D	0	-7.0396	5.3019	0.15783	0.0:0.5224:0.0:0.4776	.	404;424;442	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	F	424;442;404	ENSP00000298232:V424F;ENSP00000355208:V442F;ENSP00000344441:V404F	ENSP00000298232:V424F	V	-	1	0	TPTE	9936266	0.011000	0.17503	0.001000	0.08648	0.116000	0.19942	-0.209000	0.09358	-0.279000	0.09167	0.184000	0.17185	GTC		PASS	0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	51	6	51	---	---	---	---
USP25	29761	broad.mit.edu	37	21	17197357	17197357	+	Silent	SNP	G	G	A	rs373634568		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr21:17197357G>A	ENST00000285679.6	+	12	1650	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	USP25_ENST00000285681.2_Silent_p.T427T|USP25_ENST00000400183.2_Silent_p.T427T|USP25_ENST00000351097.5_Intron	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	427	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.T427T(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ATTACCTCACGGTATTACAAC	0.299																																						uc002yjy.1																			1	Substitution - coding silent(1)	p.T427M(1)	lung(1)	ovary(3)|liver(2)	5						c.(1279-1281)ACG>ACA		ubiquitin specific peptidase 25		G		1,4405	2.1+/-5.4	0,1,2202	105.0	103.0	104.0		1281	3.3	1.0	21		104	0,8600		0,0,4300	no	coding-synonymous	USP25	NM_013396.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		427/1056	17197357	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17197357G>A	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1281G>A	21.37:g.17197357G>A						USP25_uc011aby.1_Silent_p.T427T|USP25_uc002yjz.1_Silent_p.T427T|USP25_uc010gla.1_Intron	p.T427T	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	12	1498	+			427					C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	c.1281G>A	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	9.420	1.082798	0.20309	2.27E-4	0.0	ENSG00000155313	ENST00000453553	.	.	.	5.74	3.32	0.38043	.	.	.	.	.	T	0.57169	0.2035	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	.	7.4138	0.27032	0.8015:0.0:0.0709:0.1276	.	.	.	.	Q	10	.	.	R	+	2	0	USP25	16119228	0.997000	0.39634	1.000000	0.80357	0.966000	0.64601	0.642000	0.24735	0.500000	0.27991	-0.295000	0.09555	CGG		PASS	0.299	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			29	39	29	39	---	---	---	---
ABCG1	9619	broad.mit.edu	37	21	43645932	43645932	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr21:43645932G>T	ENST00000361802.2	+	2	339	c.194G>T	c.(193-195)cGc>cTc	p.R65L	ABCG1_ENST00000347800.2_Missense_Mutation_p.R62L|ABCG1_ENST00000398449.3_Missense_Mutation_p.R65L|ABCG1_ENST00000343687.3_Missense_Mutation_p.R76L|ABCG1_ENST00000398457.2_Missense_Mutation_p.R67L|ABCG1_ENST00000462050.1_3'UTR	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	65					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.R67L(1)|p.R65L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GAAGCCCAGCGCTTCTCCTCC	0.532																																						uc002zaq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(193-195)CGC>CTC		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						89.0	89.0	89.0					21																	43645932		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43645932G>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.194G>T	21.37:g.43645932G>T	ENSP00000354995:p.Arg65Leu					ABCG1_uc002zan.2_Missense_Mutation_p.R67L|ABCG1_uc002zam.2_Missense_Mutation_p.R43L|ABCG1_uc002zao.2_Missense_Mutation_p.R62L|ABCG1_uc002zap.2_Missense_Mutation_p.R65L|ABCG1_uc002zar.2_Missense_Mutation_p.R76L|ABCG1_uc011aev.1_Missense_Mutation_p.R76L	p.R65L	NM_004915	NP_004906	P45844	ABCG1_HUMAN			2	300	+			65			Cytoplasmic (Potential).		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.194G>T	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906862	0.92107	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687	D;D;D;D;D;D	0.85702	-2.01;-2.01;-1.77;-2.01;-1.97;-2.02	4.99	4.99	0.66335	.	.	.	.	.	D	0.90830	0.7120	L	0.58669	1.825	0.80722	D	1	B;D;D;P;B;D	0.67145	0.095;0.992;0.961;0.873;0.393;0.996	B;P;P;P;B;D	0.79108	0.032;0.896;0.78;0.544;0.108;0.992	D	0.90000	0.4114	8	.	.	.	.	18.6613	0.91472	0.0:0.0:1.0:0.0	.	76;76;65;65;62;67	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	L	67;62;65;65;65;76	ENSP00000381475:R67L;ENSP00000291524:R62L;ENSP00000414541:R65L;ENSP00000381467:R65L;ENSP00000354995:R65L;ENSP00000339744:R76L	.	R	+	2	0	ABCG1	42519001	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.057000	0.93889	2.478000	0.83669	0.561000	0.74099	CGC		PASS	0.532	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		137	14	137	14	---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17589252	17589252	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr22:17589252G>C	ENST00000319363.6	+	13	1276	c.1143G>C	c.(1141-1143)tgG>tgC	p.W381C		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	381	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.W381C(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGAAGGTCTGGATCATCTACT	0.632																																						uc002zly.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1141-1143)TGG>TGC		interleukin 17A receptor precursor							64.0	66.0	65.0					22																	17589252		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589252G>C	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1143G>C	22.37:g.17589252G>C	ENSP00000320936:p.Trp381Cys					IL17RA_uc010gqt.2_Missense_Mutation_p.W329C	p.W381C	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	1276	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	381			Cytoplasmic (Potential).|SEFIR.		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1143G>C	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467540	0.84533	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.30448	1.53	5.81	5.81	0.92471	SEFIR (1);	0.000000	0.64402	D	0.000005	T	0.56645	0.1999	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.56025	-0.8047	10	0.87932	D	0	-23.8848	20.0656	0.97703	0.0:0.0:1.0:0.0	.	329;381	D3YTB4;Q96F46	.;I17RA_HUMAN	C	329;381	ENSP00000320936:W381C	ENSP00000320936:W381C	W	+	3	0	IL17RA	15969252	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.693000	0.61753	2.752000	0.94435	0.555000	0.69702	TGG		PASS	0.632	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		7	26	7	26	---	---	---	---
AIFM3	150209	broad.mit.edu	37	22	21329007	21329007	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr22:21329007G>C	ENST00000399167.2	+	8	862	c.622G>C	c.(622-624)Gtg>Ctg	p.V208L	AIFM3_ENST00000335375.5_Missense_Mutation_p.V196L|AIFM3_ENST00000333607.6_Missense_Mutation_p.V208L|AIFM3_ENST00000399163.2_Missense_Mutation_p.V208L|AIFM3_ENST00000405089.1_Missense_Mutation_p.V214L|AIFM3_ENST00000440238.2_Missense_Mutation_p.V208L|AIFM3_ENST00000465606.1_Intron	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	208					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.V208L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGCTGGCCTGGTGTGTGCAGA	0.647																																						uc002ztj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(622-624)GTG>CTG		apoptosis-inducing factor,							67.0	64.0	65.0					22																	21329007		2203	4300	6503	SO:0001583	missense	150209				activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding	g.chr22:21329007G>C	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.622G>C	22.37:g.21329007G>C	ENSP00000382120:p.Val208Leu					AIFM3_uc002ztk.2_Missense_Mutation_p.V208L|AIFM3_uc002ztl.2_Missense_Mutation_p.V214L|AIFM3_uc011ahx.1_Missense_Mutation_p.V196L|AIFM3_uc002ztm.1_Intron	p.V208L	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		8	840	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	208					B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.622G>C	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497319	0.44455	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000434714;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.24	5.24	0.73138	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.141030	0.47455	D	0.000234	T	0.43500	0.1250	L	0.50993	1.605	0.53688	D	0.999974	B;B;B;B	0.23806	0.091;0.036;0.036;0.045	B;B;B;B	0.26614	0.063;0.042;0.042;0.071	T	0.27262	-1.0079	10	0.25751	T	0.34	-8.8839	14.3326	0.66566	0.0:0.0:1.0:0.0	.	196;214;208;208	B7Z9S7;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;AIFM3_HUMAN	L	208;208;208;214;196;208;208	ENSP00000382120:V208L;ENSP00000382116:V208L;ENSP00000399657:V208L;ENSP00000385800:V214L;ENSP00000335369:V196L;ENSP00000390798:V208L;ENSP00000327671:V208L	ENSP00000327671:V208L	V	+	1	0	AIFM3	19659007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.127000	0.64727	2.429000	0.82318	0.561000	0.74099	GTG		PASS	0.647	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		4	5	4	5	---	---	---	---
LZTR1	8216	broad.mit.edu	37	22	21345987	21345987	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr22:21345987A>G	ENST00000215739.8	+	9	1221	c.862A>G	c.(862-864)Acc>Gcc	p.T288A	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.T269A	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	288					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T288A(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTACGGGCATACCATGGTGGC	0.622																																						uc002zto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(862-864)ACC>GCC		leucine-zipper-like transcription regulator 1							39.0	36.0	37.0					22																	21345987		2201	4293	6494	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21345987A>G	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.862A>G	22.37:g.21345987A>G	ENSP00000215739:p.Thr288Ala					LZTR1_uc002ztn.2_Missense_Mutation_p.T247A|LZTR1_uc011ahy.1_Missense_Mutation_p.T269A|LZTR1_uc010gsr.1_Missense_Mutation_p.T159A	p.T288A	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		9	965	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	288					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.862A>G	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.045784	0.93685	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.75477	-0.94;-0.94	5.24	5.24	0.73138	Kelch-type beta propeller (1);	0.099999	0.64402	D	0.000002	T	0.73961	0.3654	L	0.31371	0.925	0.80722	D	1	P;D;D;D	0.67145	0.704;0.971;0.996;0.966	P;P;P;P	0.60173	0.468;0.803;0.87;0.758	T	0.69760	-0.5058	10	0.17832	T	0.49	-48.5168	13.0875	0.59149	1.0:0.0:0.0:0.0	.	269;247;288;247	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	A	247;288;269	ENSP00000215739:T288A;ENSP00000374006:T269A	ENSP00000215739:T288A	T	+	1	0	LZTR1	19675987	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.153000	0.77428	1.978000	0.57642	0.379000	0.24179	ACC		PASS	0.622	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		5	3	5	3	---	---	---	---
IGLV8-61	28774	broad.mit.edu	37	22	22453531	22453531	+	RNA	SNP	C	C	A	rs375427743		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr22:22453531C>A	ENST00000390283.2	+	0	323									immunoglobulin lambda variable 8-61																		TGGCTCCATCCTTGGGAACAA	0.552																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							128.0	130.0	130.0					22																	22453531		1972	4179	6151			96610							g.chr22:22453531C>A	Z73650		22q11.2	2012-02-08			ENSG00000211638	ENSG00000211638		"""Immunoglobulins / IGL locus"""	5931	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150844		22.37:g.22453531C>A														7		+									RNA	SNP	ENST00000390283.2	37	c.664C>A																																																																																					PASS	0.552	IGLV8-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320321.1	NG_000002		4	82	4	82	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18259411	18259411	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:18259411C>A	ENST00000251900.4	-	15	2222	c.2063G>T	c.(2062-2064)tGt>tTt	p.C688F	SCML2_ENST00000491988.1_5'Flank|SCML2_ENST00000398048.3_3'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	688	SAM.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C688F(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AATGTAGTAACACAGCTTTAA	0.358																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2062-2064)TGT>TTT		sex comb on midleg-like 2							134.0	119.0	124.0					X																	18259411		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18259411C>A	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.2063G>T	X.37:g.18259411C>A	ENSP00000251900:p.Cys688Phe					SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_3'UTR|SCML2_uc011miz.1_3'UTR|SCML2_uc010nfc.2_3'UTR	p.C688F	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			15	2220	-	Hepatocellular(33;0.183)		688			SAM.		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.2063G>T	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759972	0.49468	.	.	ENSG00000102098	ENST00000251900	T	0.50548	0.74	5.58	4.71	0.59529	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.058756	0.64402	D	0.000001	T	0.61173	0.2326	L	0.52011	1.625	0.80722	D	1	P	0.49961	0.93	D	0.63192	0.912	T	0.63756	-0.6565	10	0.87932	D	0	.	14.1554	0.65415	0.0:0.7232:0.2767:0.0	.	688	Q9UQR0	SCML2_HUMAN	F	688	ENSP00000251900:C688F	ENSP00000251900:C688F	C	-	2	0	SCML2	18169332	1.000000	0.71417	0.055000	0.19348	0.595000	0.36748	4.473000	0.60196	1.114000	0.41781	0.544000	0.68410	TGT		PASS	0.358	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		106	135	106	135	---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24741271	24741271	+	Splice_Site	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:24741271G>T	ENST00000379059.3	+	11	1084		c.e11-1		POLA1_ENST00000379068.3_Splice_Site	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit						cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TATTCTTTCAGGTGTGGTATT	0.383																																						uc004dbl.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(1)	3						c.e11-1		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						197.0	178.0	184.0					X																	24741271		2203	4300	6503	SO:0001630	splice_region_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24741271G>T		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1070-1G>T	X.37:g.24741271G>T						POLA1_uc004dbm.2_Splice_Site_p.G363_splice|POLA1_uc004dbn.2_Splice_Site_p.G221_splice	p.G357_splice	NM_016937	NP_058633	P09884	DPOLA_HUMAN			11	1093	+								Q86UQ7	Splice_Site	SNP	ENST00000379059.3	37	c.1070_splice	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022079	0.75275	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3319	0.87267	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLA1	24651192	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	9.099000	0.94207	2.363000	0.80096	0.513000	0.50165	.		PASS	0.383	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937	Intron	82	120	82	120	---	---	---	---
MAGEB6	158809	broad.mit.edu	37	X	26212431	26212431	+	Silent	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																						uc004dbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(466-468)TCG>TCT		melanoma antigen family B, 6							56.0	52.0	53.0					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212431G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>T	X.37:g.26212431G>T						MAGEB6_uc010ngc.1_5'UTR	p.S156S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	617	+			156			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.468G>T	CCDS14217.1																																																																																				PASS	0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		3	69	3	69	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29973704	29973704	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:29973704C>A	ENST00000378993.1	+	11	2531	c.1858C>A	c.(1858-1860)Cgt>Agt	p.R620S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R620S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	620	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.R620S(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTCACAAATGCGTCAGAAACA	0.532																																						uc004dby.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(1858-1860)CGT>AGT		interleukin 1 receptor accessory protein-like 1							91.0	42.0	59.0					X																	29973704		2202	4299	6501	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973704C>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1858C>A	X.37:g.29973704C>A	ENSP00000368278:p.Arg620Ser						p.R620S	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			11	2366	+			620			Cytoplasmic (Potential).|Interaction with NCS1.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1858C>A	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099142	0.37048	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.04317	3.65;3.65	5.12	5.12	0.69794	.	0.049571	0.85682	D	0.000000	T	0.07638	0.0192	L	0.60455	1.87	0.51482	D	0.999927	P	0.42973	0.796	B	0.38842	0.283	T	0.28996	-1.0026	9	.	.	.	.	15.9136	0.79491	0.0:1.0:0.0:0.0	.	620	Q9NZN1	IRPL1_HUMAN	S	620	ENSP00000368278:R620S;ENSP00000305200:R620S	.	R	+	1	0	IL1RAPL1	29883625	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.553000	0.60753	2.121000	0.65114	0.529000	0.55759	CGT		PASS	0.532	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		13	19	13	19	---	---	---	---
MAGEB2	4113	broad.mit.edu	37	X	30236736	30236736	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:30236736G>C	ENST00000378988.4	+	2	140	c.39G>C	c.(37-39)gaG>gaC	p.E13D		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	13								p.E13D(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GTGCCCGTGAGAAACGCCGCA	0.537																																						uc004dbz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(37-39)GAG>GAC		melanoma antigen family B, 2							42.0	40.0	41.0					X																	30236736		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30236736G>C	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.39G>C	X.37:g.30236736G>C	ENSP00000368273:p.Glu13Asp						p.E13D	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	142	+			13					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.39G>C	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561345	0.45590	.	.	ENSG00000099399	ENST00000378988	T	0.08896	3.04	3.43	2.55	0.30701	Melanoma associated antigen, MAGE, N-terminal (1);	0.374638	0.22134	N	0.064144	T	0.24044	0.0582	M	0.79343	2.45	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02150	-1.1205	10	0.45353	T	0.12	.	7.2059	0.25907	0.0:0.0:0.7354:0.2646	.	13	O15479	MAGB2_HUMAN	D	13	ENSP00000368273:E13D	ENSP00000368273:E13D	E	+	3	2	MAGEB2	30146657	0.986000	0.35501	0.186000	0.23195	0.032000	0.12392	1.420000	0.34804	0.819000	0.34492	-0.364000	0.07487	GAG		PASS	0.537	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		16	33	16	33	---	---	---	---
MAGEB3	4114	broad.mit.edu	37	X	30254995	30254995	+	Silent	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:30254995C>A	ENST00000361644.2	+	5	1691	c.954C>A	c.(952-954)gtC>gtA	p.V318V		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	318								p.V318V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAGAAAGAGTCCAAGCTGCAG	0.502																																						uc004dca.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(952-954)GTC>GTA		melanoma antigen family B, 3							84.0	70.0	75.0					X																	30254995		2202	4300	6502	SO:0001819	synonymous_variant	4114							g.chrX:30254995C>A	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.954C>A	X.37:g.30254995C>A							p.V318V	NM_002365	NP_002356	O15480	MAGB3_HUMAN			5	1691	+			318					A0AVE4|B3KQ52|O75861	Silent	SNP	ENST00000361644.2	37	c.954C>A	CCDS14220.1																																																																																				PASS	0.502	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		19	36	19	36	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148685	34148685	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:34148685C>A	ENST00000346193.3	-	1	1762	c.1711G>T	c.(1711-1713)Gag>Tag	p.E571*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	571								p.E571*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGGAGGCTCCGAGAATTGA	0.522																																						uc004ddg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1711-1713)GAG>TAG		hypothetical protein LOC158724							71.0	68.0	69.0					X																	34148685		2158	4262	6420	SO:0001587	stop_gained	158724							g.chrX:34148685C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1711G>T	X.37:g.34148685C>A	ENSP00000345029:p.Glu571*						p.E571*	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1744	-			571					A8K8I9|Q8TAA0	Nonsense_Mutation	SNP	ENST00000346193.3	37	c.1711G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	15.49	2.850349	0.51270	.	.	ENSG00000185448	ENST00000346193	.	.	.	0.919	-1.23	0.09465	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	4.1626	0.10291	0.0:0.5367:0.0:0.4633	.	.	.	.	X	571	.	ENSP00000345029:E571X	E	-	1	0	FAM47A	34058606	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.249000	0.18216	-0.629000	0.05575	0.279000	0.19357	GAG		PASS	0.522	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		42	46	42	46	---	---	---	---
SSX1	6756	broad.mit.edu	37	X	48123281	48123281	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:48123281C>A	ENST00000376919.3	+	6	531	c.395C>A	c.(394-396)cCa>cAa	p.P132Q		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)	p.P132Q(1)	SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GCATCTGGCCCACAAAACGAT	0.418			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	uc004djb.1				Dom	yes		X	Xp11.23-p11.22	6756		"""synovial sarcoma, X breakpoint 1"""			M				SS18/SSX1(1169)	1	Substitution - Missense(1)		lung(1)	soft_tissue(1169)	1169						c.(394-396)CCA>CAA		synovial sarcoma, X breakpoint 1							164.0	151.0	155.0					X																	48123281		2203	4299	6502	SO:0001583	missense	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48123281C>A	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.395C>A	X.37:g.48123281C>A	ENSP00000366118:p.Pro132Gln						p.P132Q	NM_005635	NP_005626	Q16384	SSX1_HUMAN			6	486	+			132					A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	c.395C>A	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	10.26	1.301833	0.23736	.	.	ENSG00000126752	ENST00000376919	T	0.06608	3.28	2.1	-1.3	0.09259	.	2.087090	0.02720	N	0.113952	T	0.07188	0.0182	L	0.58810	1.83	0.09310	N	1	P	0.41313	0.745	B	0.37346	0.247	T	0.24835	-1.0149	10	0.49607	T	0.09	.	0.5904	0.00727	0.2428:0.3401:0.2381:0.179	.	132	Q16384	SSX1_HUMAN	Q	132	ENSP00000366118:P132Q	ENSP00000366118:P132Q	P	+	2	0	SSX1	48008225	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.112000	0.15479	-0.459000	0.07013	0.380000	0.24917	CCA		PASS	0.418	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		153	218	153	218	---	---	---	---
CCDC22	28952	broad.mit.edu	37	X	49104772	49104772	+	Splice_Site	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:49104772G>T	ENST00000376227.3	+	10	1382		c.e10+1			NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22									p.?(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CAAGCTGCAGGTGGGGTTGGG	0.672																																						uc004dnd.1																			2	Unknown(2)		lung(2)	central_nervous_system(1)	1						c.e10+1		coiled-coil domain containing 22							12.0	12.0	12.0					X																	49104772		2178	4272	6450	SO:0001630	splice_region_variant	28952							g.chrX:49104772G>T	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1212+1G>T	X.37:g.49104772G>T						CCDC22_uc004dnc.1_Splice_Site	p.Q404_splice	NM_014008	NP_054727	O60826	CCD22_HUMAN			10	1368	+								A8K7G1	Splice_Site	SNP	ENST00000376227.3	37	c.1212_splice	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593211	0.28357	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3416	0.83083	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC22	48991716	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	5.781000	0.68964	2.111000	0.64477	0.436000	0.28706	.		PASS	0.672	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008	Intron	7	12	7	12	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54265524	54265524	+	Silent	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:54265524G>A	ENST00000375159.2	-	17	3659	c.3660C>T	c.(3658-3660)tcC>tcT	p.S1220S	WNK3_ENST00000375169.3_Silent_p.S1220S|WNK3_ENST00000354646.2_Silent_p.S1220S			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1220					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S1220S(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AAGCATCTGAGGACATCTCCT	0.413																																						uc004dtd.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(3658-3660)TCC>TCT		WNK lysine deficient protein kinase 3 isoform 2							43.0	41.0	42.0					X																	54265524		2203	4300	6503	SO:0001819	synonymous_variant	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54265524G>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3660C>T	X.37:g.54265524G>A						WNK3_uc004dtc.1_Silent_p.S1220S	p.S1220S	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			18	4099	-			1220					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	c.3660C>T	CCDS14357.1																																																																																				PASS	0.413	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		22	49	22	49	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54581038	54581038	+	Silent	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:54581038G>A	ENST00000336470.4	+	14	1498	c.1359G>A	c.(1357-1359)acG>acA	p.T453T	GNL3L_ENST00000360845.2_Silent_p.T453T	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	453					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.T453T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TGGGTGACACGGACCCACTTG	0.512																																						uc004dth.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1357-1359)ACG>ACA		guanine nucleotide binding protein-like 3							166.0	127.0	140.0					X																	54581038		2203	4300	6503	SO:0001819	synonymous_variant	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54581038G>A	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1359G>A	X.37:g.54581038G>A						GNL3L_uc004dti.2_RNA	p.T453T	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN			14	1498	+			453						Silent	SNP	ENST00000336470.4	37	c.1359G>A	CCDS14360.1																																																																																				PASS	0.512	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		36	55	36	55	---	---	---	---
USP51	158880	broad.mit.edu	37	X	55514393	55514393	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:55514393G>A	ENST00000500968.3	-	2	1062	c.980C>T	c.(979-981)tCa>tTa	p.S327L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	327					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.S327L(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTCAAACCCTGATGTCATAAA	0.353																																						uc004dun.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(979-981)TCA>TTA		ubiquitin specific protease 51							94.0	93.0	93.0					X																	55514393		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514393G>A	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.980C>T	X.37:g.55514393G>A	ENSP00000423333:p.Ser327Leu					USP51_uc011moo.1_Missense_Mutation_p.S31L	p.S327L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			2	1059	-			327					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.980C>T	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	5.969	0.362767	0.11296	.	.	ENSG00000247746	ENST00000500968	T	0.10860	2.83	3.19	2.31	0.28768	.	1.531470	0.04840	U	0.440336	T	0.08626	0.0214	N	0.24115	0.695	0.28653	N	0.906528	B	0.12013	0.005	B	0.06405	0.002	T	0.31166	-0.9953	10	0.49607	T	0.09	.	5.5179	0.16916	0.1587:0.0:0.8413:0.0	.	327	Q70EK9	UBP51_HUMAN	L	327	ENSP00000423333:S327L	ENSP00000423333:S327L	S	-	2	0	USP51	55531118	1.000000	0.71417	0.151000	0.22473	0.430000	0.31655	2.419000	0.44671	0.734000	0.32515	0.508000	0.49915	TCA		PASS	0.353	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		11	287	11	287	---	---	---	---
ITGB1BP2	26548	broad.mit.edu	37	X	70524083	70524083	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:70524083T>C	ENST00000373829.3	+	9	759	c.686T>C	c.(685-687)gTa>gCa	p.V229A	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.V211A|ITGB1BP2_ENST00000465388.1_3'UTR	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	229	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.V229A(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GATTCCTTAGTAGTGGTGACT	0.463																																						uc004dzr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(685-687)GTA>GCA		integrin beta 1 binding protein 2							138.0	106.0	117.0					X																	70524083		2203	4300	6503	SO:0001583	missense	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70524083T>C	AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.686T>C	X.37:g.70524083T>C	ENSP00000362935:p.Val229Ala					BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.V211A	p.V229A	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN			9	715	+	Renal(35;0.156)		229			CS.		Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	c.686T>C	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861184	0.51482	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	T;T	0.33438	1.41;1.41	5.24	5.24	0.73138	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.059296	0.64402	D	0.000003	T	0.58380	0.2118	M	0.86953	2.85	0.54753	D	0.999984	P;D	0.76494	0.711;0.999	P;D	0.85130	0.449;0.997	T	0.65092	-0.6252	10	0.87932	D	0	-8.5228	10.1778	0.42948	0.0:0.0:0.0:1.0	.	211;229	Q32N04;Q9UKP3	.;ITBP2_HUMAN	A	229;211	ENSP00000362935:V229A;ENSP00000440289:V211A	ENSP00000362935:V229A	V	+	2	0	ITGB1BP2	70440808	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	3.744000	0.55112	1.928000	0.55862	0.486000	0.48141	GTA		PASS	0.463	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		27	77	27	77	---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73812559	73812559	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:73812559T>A	ENST00000332687.6	-	4	809	c.591A>T	c.(589-591)gaA>gaT	p.E197D	RLIM_ENST00000349225.2_Missense_Mutation_p.E197D	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	197					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E197D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGTTAACGCTTCAGTTGAAT	0.493																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(589-591)GAA>GAT		ring finger protein, LIM domain interacting							186.0	157.0	167.0					X																	73812559		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812559T>A	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.591A>T	X.37:g.73812559T>A	ENSP00000328059:p.Glu197Asp					RLIM_uc004ebw.2_Missense_Mutation_p.E197D	p.E197D	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	881	-			197					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.591A>T	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.842179	0.32513	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.09073	3.02;3.02	6.05	-0.0565	0.13805	.	0.337998	0.31531	N	0.007484	T	0.09555	0.0235	M	0.66939	2.045	0.09310	N	0.999999	B	0.23735	0.09	B	0.21360	0.034	T	0.25537	-1.0129	10	0.33141	T	0.24	-6.4217	10.7716	0.46325	0.0:0.4204:0.0:0.5796	.	197	Q9NVW2	RNF12_HUMAN	D	197	ENSP00000328059:E197D;ENSP00000253571:E197D	ENSP00000328059:E197D	E	-	3	2	RLIM	73729284	0.749000	0.28305	0.226000	0.23910	0.533000	0.34776	0.173000	0.16724	0.069000	0.16605	0.481000	0.45027	GAA		PASS	0.493	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		125	202	125	202	---	---	---	---
DIAPH2	1730	broad.mit.edu	37	X	96171548	96171548	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:96171548A>G	ENST00000324765.8	+	8	1191	c.844A>G	c.(844-846)Att>Gtt	p.I282V	DIAPH2_ENST00000373061.3_Missense_Mutation_p.I282V|DIAPH2_ENST00000373054.4_Missense_Mutation_p.I278V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.I282V|DIAPH2_ENST00000355827.4_Missense_Mutation_p.I282V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	282	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.I282V(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ACTTTCTGCTATTTGCATTGT	0.323																																						uc004efu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(844-846)ATT>GTT		diaphanous 2 isoform 156							63.0	57.0	59.0					X																	96171548		2203	4293	6496	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96171548A>G	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.844A>G	X.37:g.96171548A>G	ENSP00000321348:p.Ile282Val					DIAPH2_uc004eft.3_Missense_Mutation_p.I282V|DIAPH2_uc004efs.2_Missense_Mutation_p.I289V	p.I282V	NM_006729	NP_006720	O60879	DIAP2_HUMAN			8	1240	+			282			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.844A>G	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	A	4.711	0.132282	0.08981	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.52	5.52	0.82312	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.071105	0.56097	D	0.000026	T	0.77157	0.4089	N	0.13327	0.33	0.37256	D	0.906778	B;B;B	0.32653	0.379;0.147;0.178	B;B;B	0.31101	0.124;0.026;0.044	T	0.76618	-0.2893	10	0.02654	T	1	.	14.6448	0.68754	1.0:0.0:0.0:0.0	.	282;282;289	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	V	282;278;282;282;282;289	ENSP00000362152:I282V;ENSP00000362145:I278V;ENSP00000348082:I282V;ENSP00000362140:I282V;ENSP00000321348:I282V	ENSP00000321348:I282V	I	+	1	0	DIAPH2	96058204	0.937000	0.31787	1.000000	0.80357	0.998000	0.95712	1.930000	0.40124	1.840000	0.53500	0.441000	0.28932	ATT		PASS	0.323	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		3	75	3	75	---	---	---	---
RAB40A	142684	broad.mit.edu	37	X	102755198	102755198	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:102755198T>C	ENST00000372633.1	-	1	2605	c.487A>G	c.(487-489)Atc>Gtc	p.I163V	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.I163V			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	163					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.I163V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GACTCTATGATGTTGAAATTG	0.587																																						uc004ekk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)ATC>GTC		RAB40A, member RAS oncogene family							47.0	38.0	41.0					X																	102755198		2203	4300	6503	SO:0001583	missense	142684				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chrX:102755198T>C	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"""RAB, member RAS oncogene"""	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.487A>G	X.37:g.102755198T>C	ENSP00000361716:p.Ile163Val						p.I163V	NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN			3	829	-			163					O00407|Q17RQ5|Q6DK06|Q8TF06	Missense_Mutation	SNP	ENST00000372633.1	37	c.487A>G	CCDS35357.1	.	.	.	.	.	.	.	.	.	.	.	14.91	2.676126	0.47886	.	.	ENSG00000172476	ENST00000372633;ENST00000304236	T;T	0.72282	-0.64;-0.64	0.225	0.225	0.15325	.	0.000000	0.47455	U	0.000237	T	0.35008	0.0917	N	0.03115	-0.41	0.47862	D	0.999532	B	0.13145	0.007	B	0.18561	0.022	T	0.33420	-0.9869	10	0.02654	T	1	.	4.7556	0.13082	0.0:3.0E-4:0.0:0.9997	.	163	Q8WXH6	RB40A_HUMAN	V	163	ENSP00000361716:I163V;ENSP00000305648:I163V	ENSP00000305648:I163V	I	-	1	0	RAB40A	102641854	0.999000	0.42202	0.913000	0.36048	0.914000	0.54420	0.353000	0.20130	0.238000	0.21222	0.235000	0.17854	ATC		PASS	0.587	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			6	72	6	72	---	---	---	---
HTR2C	3358	broad.mit.edu	37	X	114082670	114082670	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:114082670C>T	ENST00000276198.1	+	5	1182	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	HTR2C_ENST00000371951.1_Missense_Mutation_p.R152W|HTR2C_ENST00000371950.3_Splice_Site_p.R152W	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	152					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R152W(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATCGCTGGATCGGTATGTAGC	0.428																																						uc004epu.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)	3						c.(454-456)CGG>TGG		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						180.0	150.0	160.0					X																	114082670		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114082670C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.454C>T	X.37:g.114082670C>T	ENSP00000276198:p.Arg152Trp					HTR2C_uc010nqc.1_Missense_Mutation_p.R152W|HTR2C_uc004epv.1_Missense_Mutation_p.R152W	p.R152W	NM_000868	NP_000859	P28335	5HT2C_HUMAN			5	1182	+			152			Cytoplasmic (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.454C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709825	0.89018	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	D;D;D	0.97186	-4.28;-4.28;-4.28	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.99137	0.9702	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98638	1.0674	10	0.87932	D	0	.	13.6001	0.62013	0.0:1.0:0.0:0.0	.	152;152	B1AMW4;P28335	.;5HT2C_HUMAN	W	152	ENSP00000276198:R152W;ENSP00000361019:R152W;ENSP00000361018:R152W	ENSP00000276198:R152W	R	+	1	2	HTR2C	113988926	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.686000	0.84128	1.771000	0.52183	0.544000	0.68410	CGG		PASS	0.428	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		100	198	100	198	---	---	---	---
CXorf56	63932	broad.mit.edu	37	X	118699258	118699258	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:118699258C>A	ENST00000371594.4	-	1	139	c.61G>T	c.(61-63)Gac>Tac	p.D21Y	CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Missense_Mutation_p.D21Y	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	21								p.D21Y(1)		cervix(1)|endometrium(2)|lung(7)	10						TCGCCGTCGTCATATTCCTCC	0.557																																						uc004erk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)GAC>TAC		hypothetical protein LOC63932							77.0	70.0	72.0					X																	118699258		2203	4300	6503	SO:0001583	missense	63932						protein binding	g.chrX:118699258C>A	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.61G>T	X.37:g.118699258C>A	ENSP00000360652:p.Asp21Tyr					CXorf56_uc004erj.1_5'UTR|CXorf56_uc011mtu.1_Missense_Mutation_p.D21Y	p.D21Y	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN			1	107	-			21					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Missense_Mutation	SNP	ENST00000371594.4	37	c.61G>T	CCDS14579.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.618893	0.87460	.	.	ENSG00000018610	ENST00000486230;ENST00000371594;ENST00000536133;ENST00000476164	.	.	.	4.55	4.55	0.56014	.	0.052747	0.64402	D	0.000001	T	0.55353	0.1915	L	0.48642	1.525	0.80722	D	1	P;P	0.42785	0.79;0.79	B;B	0.42522	0.39;0.39	T	0.62651	-0.6809	9	0.72032	D	0.01	-14.1842	15.521	0.75866	0.0:1.0:0.0:0.0	.	21;21	F5GWL7;Q9H5V9	.;CX056_HUMAN	Y	21	.	ENSP00000360652:D21Y	D	-	1	0	CXorf56	118583286	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.694000	0.74587	1.848000	0.53677	0.591000	0.81541	GAC		PASS	0.557	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		42	94	42	94	---	---	---	---
NKAP	79576	broad.mit.edu	37	X	119070583	119070583	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:119070583G>C	ENST00000371410.3	-	3	696	c.530C>G	c.(529-531)aCt>aGt	p.T177S	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	177					granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.T177S(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						ACCTTCTGAAGTAGAAGCTGA	0.279																																						uc004esh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(529-531)ACT>AGT		NFKB activating protein							75.0	74.0	74.0					X																	119070583		2202	4299	6501	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119070583G>C	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.530C>G	X.37:g.119070583G>C	ENSP00000360464:p.Thr177Ser					NKAP_uc004esg.2_Missense_Mutation_p.T64S	p.T177S	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN			3	697	-			177					Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.530C>G	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	G	1.291	-0.607709	0.03717	.	.	ENSG00000101882	ENST00000371410	T	0.12147	2.71	4.34	2.26	0.28386	.	0.629120	0.18092	N	0.151961	T	0.02571	0.0078	N	0.00197	-1.87	0.23542	N	0.997457	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41770	-0.9490	10	0.06099	T	0.92	-0.0038	11.2587	0.49069	0.0:0.6253:0.3747:0.0	.	177;177	Q8N5F7;A0PJ73	NKAP_HUMAN;.	S	177	ENSP00000360464:T177S	ENSP00000360464:T177S	T	-	2	0	NKAP	118954611	1.000000	0.71417	0.857000	0.33713	0.921000	0.55340	3.090000	0.50191	0.851000	0.35264	0.600000	0.82982	ACT		PASS	0.279	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		76	110	76	110	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122754763	122754763	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:122754763C>A	ENST00000245838.8	-	32	4301	c.4270G>T	c.(4270-4272)Gta>Tta	p.V1424L	THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Missense_Mutation_p.V1309L|THOC2_ENST00000355725.4_Missense_Mutation_p.V1424L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1424	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.V1424L(1)|p.V1345L(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTAACCTTTACTGTGGAGGAA	0.413																																						uc004etu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(4270-4272)GTA>TTA		THO complex 2							222.0	214.0	216.0					X																	122754763		2070	4203	6273	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122754763C>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4270G>T	X.37:g.122754763C>A	ENSP00000245838:p.Val1424Leu					THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.V245L	p.V1424L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			32	4302	-			1424			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.4270G>T	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.86|12.86	2.065982|2.065982	0.36470|0.36470	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000448128;ENST00000441692;ENST00000408933|ENST00000245838;ENST00000355725;ENST00000416618;ENST00000491737	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.53594|0.53594	0.1806|0.1806	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|B	.|0.13145	.|0.007	.|B	.|0.12156	.|0.007	T|T	0.46735|0.46735	-0.9170|-0.9170	6|9	0.87932|0.28530	D|T	0|0.3	-6.8185|-6.8185	18.1617|18.1617	0.89710|0.89710	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1424	.|Q8NI27	.|THOC2_HUMAN	H|L	19;191;848|1424;1424;13;1309	.|.	ENSP00000386221:Q848H|ENSP00000245838:V1424L	Q|V	-|-	3|1	2|0	THOC2|THOC2	122582444|122582444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.625000|7.625000	0.83145|0.83145	2.225000|2.225000	0.72522|0.72522	0.600000|0.600000	0.82982|0.82982	CAG|GTA		PASS	0.413	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			159	250	159	250	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122757771	122757771	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:122757771A>T	ENST00000245838.8	-	28	3401	c.3370T>A	c.(3370-3372)Ttg>Atg	p.L1124M	THOC2_ENST00000491737.1_Missense_Mutation_p.L1009M|THOC2_ENST00000355725.4_Missense_Mutation_p.L1124M	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1124					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.L1124M(1)|p.L1045M(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGCACAATCAAGATATTCCTG	0.358																																						uc004etu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(3370-3372)TTG>ATG		THO complex 2							121.0	100.0	107.0					X																	122757771		1834	4069	5903	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122757771A>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3370T>A	X.37:g.122757771A>T	ENSP00000245838:p.Leu1124Met					THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank	p.L1124M	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			28	3402	-			1124					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3370T>A	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.49|18.49	3.634790|3.634790	0.67130|0.67130	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000438358|ENST00000245838;ENST00000355725;ENST00000491737	.|.	.|.	.|.	5.91|5.91	4.78|4.78	0.61160|0.61160	.|THO complex, subunitTHOC2, C-terminal (1);	0.000000|0.000000	0.53938|0.53938	D|D	0.000059|0.000059	T|T	0.73345|0.73345	0.3575|0.3575	M|M	0.86805|0.86805	2.84|2.84	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.75847|0.75847	-0.3173|-0.3173	6|9	.|0.56958	.|D	.|0.05	-6.0548|-6.0548	3.1573|3.1573	0.06509|0.06509	0.5921:0.0:0.4079:0.0|0.5921:0.0:0.4079:0.0	.|.	.|1124	.|Q8NI27	.|THOC2_HUMAN	H|M	196|1124;1124;1009	.|.	.|ENSP00000245838:L1124M	L|L	-|-	2|1	0|2	THOC2|THOC2	122585452|122585452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.758000|4.758000	0.62220|0.62220	1.992000|1.992000	0.58205|0.58205	0.486000|0.486000	0.48141|0.48141	CTT|TTG		PASS	0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			94	133	94	133	---	---	---	---
SASH3	54440	broad.mit.edu	37	X	128927642	128927642	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:128927642G>A	ENST00000356892.3	+	8	1091	c.977G>A	c.(976-978)gGc>gAc	p.G326D	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	326					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G326D(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GCTGAAGAGGGCGCCGAGAGC	0.632																																						uc011mun.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(976-978)GGC>GAC		SAM and SH3 domain containing 3							53.0	39.0	44.0					X																	128927642		2201	4300	6501	SO:0001583	missense	54440							g.chrX:128927642G>A	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.977G>A	X.37:g.128927642G>A	ENSP00000349359:p.Gly326Asp					SASH3_uc004euu.2_Missense_Mutation_p.G326D|SASH3_uc011muo.1_Missense_Mutation_p.G293D	p.G326D	NM_018990	NP_061863	O75995	SASH3_HUMAN			8	1159	+			326					A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	c.977G>A	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987940	0.35036	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	T	0.48201	0.82	5.97	5.97	0.96955	.	0.191098	0.48767	D	0.000168	T	0.41558	0.1164	M	0.62723	1.935	0.46279	D	0.998969	B;B	0.22276	0.067;0.014	B;B	0.22386	0.039;0.007	T	0.31503	-0.9941	10	0.19147	T	0.46	-2.1617	7.8053	0.29198	0.0866:0.1601:0.7533:0.0	.	344;326	B4DKQ0;O75995	.;SASH3_HUMAN	D	344;326	ENSP00000349359:G326D	ENSP00000349359:G326D	G	+	2	0	SASH3	128755323	0.999000	0.42202	0.947000	0.38551	0.267000	0.26476	3.437000	0.52863	2.517000	0.84864	0.600000	0.82982	GGC		PASS	0.632	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		15	27	15	27	---	---	---	---
ZNF449	203523	broad.mit.edu	37	X	134481156	134481156	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:134481156A>G	ENST00000339249.4	+	2	253	c.113A>G	c.(112-114)tAc>tGc	p.Y38C	ZNF449_ENST00000370761.3_Missense_Mutation_p.Y38C|ZNF449_ENST00000370760.3_Missense_Mutation_p.Y38C	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	38	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)	p.Y38C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTTCCAGTACAGAGAAGCA	0.478																																						uc004eys.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(112-114)TAC>TGC		zinc finger protein 449							95.0	89.0	91.0					X																	134481156		2203	4300	6503	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134481156A>G	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.113A>G	X.37:g.134481156A>G	ENSP00000339585:p.Tyr38Cys					ZNF449_uc004eyq.1_Missense_Mutation_p.Y38C|ZNF449_uc004eyr.3_Missense_Mutation_p.Y38C|ZNF449_uc004eyt.2_5'UTR	p.Y38C	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN			2	278	+	Acute lymphoblastic leukemia(192;6.56e-05)		38			SCAN box.		Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.113A>G	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180070	0.57800	.	.	ENSG00000173275	ENST00000370761;ENST00000339249;ENST00000370760	T;T;T	0.07444	3.19;3.19;3.19	4.6	4.6	0.57074	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.39274	N	0.001415	T	0.27697	0.0681	M	0.81942	2.565	0.33210	D	0.5533	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.988;0.987;0.997	T	0.42515	-0.9447	10	0.87932	D	0	.	9.3286	0.38008	1.0:0.0:0.0:0.0	.	38;38;38	Q6P9G9;Q6P9G9-2;Q6P9G9-3	ZN449_HUMAN;.;.	C	38	ENSP00000359797:Y38C;ENSP00000339585:Y38C;ENSP00000359796:Y38C	ENSP00000339585:Y38C	Y	+	2	0	ZNF449	134308822	0.994000	0.37717	0.868000	0.34077	0.996000	0.88848	3.317000	0.51968	2.025000	0.59659	0.481000	0.45027	TAC		PASS	0.478	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		55	128	55	128	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135429072	135429072	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:135429072G>T	ENST00000394143.1	+	6	3498	c.3207G>T	c.(3205-3207)caG>caT	p.Q1069H	GPR112_ENST00000412101.1_Missense_Mutation_p.Q864H|GPR112_ENST00000370652.1_Missense_Mutation_p.Q1069H|GPR112_ENST00000287534.4_Missense_Mutation_p.Q1006H|GPR112_ENST00000394141.1_Missense_Mutation_p.Q864H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1069					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q1069H(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTTGGATCAGACTGCTTCCA	0.473																																						uc004ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(3205-3207)CAG>CAT		G-protein coupled receptor 112							270.0	249.0	256.0					X																	135429072		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429072G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3207G>T	X.37:g.135429072G>T	ENSP00000377699:p.Gln1069His					GPR112_uc010nsb.1_Missense_Mutation_p.Q864H|GPR112_uc010nsc.1_Missense_Mutation_p.Q836H	p.Q1069H	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3498	+	Acute lymphoblastic leukemia(192;0.000127)		1069			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3207G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533569	0.45073	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32272	1.5;1.5;1.46;1.59;1.46	1.87	-0.144	0.13440	.	.	.	.	.	T	0.29914	0.0748	L	0.27053	0.805	0.09310	N	1	D;D;P	0.64830	0.994;0.987;0.952	P;P;P	0.59889	0.865;0.693;0.496	T	0.13150	-1.0520	9	0.59425	D	0.04	.	2.535	0.04712	0.2311:0.3184:0.4505:0.0	.	1006;864;1069	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	H	1069;1069;864;1006;864	ENSP00000377699:Q1069H;ENSP00000359686:Q1069H;ENSP00000416526:Q864H;ENSP00000287534:Q1006H;ENSP00000377697:Q864H	ENSP00000287534:Q1006H	Q	+	3	2	GPR112	135256738	0.082000	0.21442	0.001000	0.08648	0.466000	0.32739	0.792000	0.26929	-0.138000	0.11434	0.436000	0.28706	CAG		PASS	0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			199	319	199	319	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138679676	138679676	+	Silent	SNP	C	C	G			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:138679676C>G	ENST00000370576.4	-	18	2207	c.1998G>C	c.(1996-1998)ctG>ctC	p.L666L	MCF2_ENST00000414978.1_Silent_p.L726L|MCF2_ENST00000519895.1_Silent_p.L742L|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Silent_p.L666L|MCF2_ENST00000370578.4_Silent_p.L811L|MCF2_ENST00000536274.1_Silent_p.L627L|MCF2_ENST00000338585.6_Silent_p.L682L|MCF2_ENST00000520602.1_Silent_p.L726L	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	666	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L666L(2)|p.L742L(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCAGTAAATCCAGCATTGCAT	0.348																																						uc004fau.2																			3	Substitution - coding silent(3)		lung(3)	lung(1)|pleura(1)	2						c.(1996-1998)CTG>CTC		MCF.2 cell line derived transforming sequence							120.0	102.0	108.0					X																	138679676		2203	4299	6502	SO:0001819	synonymous_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138679676C>G		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1998G>C	X.37:g.138679676C>G						MCF2_uc004fav.2_Silent_p.L682L|MCF2_uc011mwl.1_Silent_p.L643L|MCF2_uc010nsh.1_Silent_p.L666L|MCF2_uc011mwm.1_Silent_p.L627L|MCF2_uc011mwn.1_Silent_p.L811L|MCF2_uc004faw.2_Silent_p.L726L|MCF2_uc011mwo.1_Silent_p.L742L	p.L666L	NM_005369	NP_005360	P10911	MCF2_HUMAN			18	2292	-	Acute lymphoblastic leukemia(192;0.000127)		666			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	c.1998G>C	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	6.968	0.548587	0.13312	.	.	ENSG00000101977	ENST00000437564	.	.	.	5.69	4.82	0.62117	.	.	.	.	.	T	0.70587	0.3241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69367	-0.5164	4	.	.	.	.	14.8812	0.70534	0.0:0.8601:0.1399:0.0	.	.	.	.	R	170	.	.	G	-	1	0	MCF2	138507342	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.752000	0.68728	1.161000	0.42604	-0.217000	0.12591	GGA		PASS	0.348	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		44	123	44	123	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138679723	138679723	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:138679723C>A	ENST00000370576.4	-	18	2160	c.1951G>T	c.(1951-1953)Gac>Tac	p.D651Y	MCF2_ENST00000414978.1_Missense_Mutation_p.D711Y|MCF2_ENST00000519895.1_Missense_Mutation_p.D727Y|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Missense_Mutation_p.D651Y|MCF2_ENST00000370578.4_Missense_Mutation_p.D796Y|MCF2_ENST00000536274.1_Missense_Mutation_p.D612Y|MCF2_ENST00000338585.6_Missense_Mutation_p.D667Y|MCF2_ENST00000520602.1_Missense_Mutation_p.D711Y	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	651	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D651Y(2)|p.D727Y(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTTCACAGTCTTTGCTATAT	0.338																																						uc004fau.2																			3	Substitution - Missense(3)		lung(3)	lung(1)|pleura(1)	2						c.(1951-1953)GAC>TAC		MCF.2 cell line derived transforming sequence							88.0	75.0	79.0					X																	138679723		2203	4297	6500	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138679723C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1951G>T	X.37:g.138679723C>A	ENSP00000359608:p.Asp651Tyr					MCF2_uc004fav.2_Missense_Mutation_p.D667Y|MCF2_uc011mwl.1_Missense_Mutation_p.D628Y|MCF2_uc010nsh.1_Missense_Mutation_p.D651Y|MCF2_uc011mwm.1_Missense_Mutation_p.D612Y|MCF2_uc011mwn.1_Missense_Mutation_p.D796Y|MCF2_uc004faw.2_Missense_Mutation_p.D711Y|MCF2_uc011mwo.1_Missense_Mutation_p.D727Y	p.D651Y	NM_005369	NP_005360	P10911	MCF2_HUMAN			18	2245	-	Acute lymphoblastic leukemia(192;0.000127)		651			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.1951G>T	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.89|15.89	2.967875|2.967875	0.53507|0.53507	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.50813|.	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73|.	5.69|5.69	4.71|4.71	0.59529|0.59529	Dbl homology (DH) domain (5);|.	0.414049|.	0.29838|.	N|.	0.011062|.	T|T	0.51839|0.51839	0.1698|0.1698	M|M	0.82193|0.82193	2.58|2.58	0.23406|0.23406	N|N	0.997741|0.997741	B;D;B;B;B;B;P;B|.	0.56521|.	0.064;0.976;0.046;0.029;0.023;0.155;0.947;0.029|.	B;P;B;B;B;B;P;B|.	0.60789|.	0.098;0.879;0.094;0.098;0.059;0.1;0.718;0.098|.	T|T	0.56360|0.56360	-0.7992|-0.7992	10|5	0.72032|.	D|.	0.01|.	.|.	3.5561|3.5561	0.07865|0.07865	0.0:0.6367:0.0:0.3632|0.0:0.6367:0.0:0.3632	.|.	727;796;612;651;651;796;667;651|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	Y|I	711;651;612;796;711;254;727;651;667|154	ENSP00000427745:D711Y;ENSP00000359608:D651Y;ENSP00000438155:D612Y;ENSP00000359610:D796Y;ENSP00000397055:D711Y;ENSP00000405848:D254Y;ENSP00000430276:D727Y;ENSP00000359605:D651Y;ENSP00000342204:D667Y|.	ENSP00000342204:D667Y|.	D|R	-|-	1|2	0|0	MCF2|MCF2	138507389|138507389	0.987000|0.987000	0.35691|0.35691	0.358000|0.358000	0.25811|0.25811	0.796000|0.796000	0.44982|0.44982	4.497000|4.497000	0.60367|0.60367	2.396000|2.396000	0.81511|0.81511	0.600000|0.600000	0.82982|0.82982	GAC|AGA		PASS	0.338	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		34	83	34	83	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303347	151303347	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:151303347G>T	ENST00000370323.4	-	4	1062	c.746C>A	c.(745-747)gCa>gAa	p.A249E	MAGEA10_ENST00000244096.3_Missense_Mutation_p.A249E|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	249	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)		p.A249E(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CATATTCAGTGCTTCCCAGAT	0.512																																						uc004ffk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(745-747)GCA>GAA		melanoma antigen family A, 10							83.0	76.0	79.0					X																	151303347		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303347G>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.746C>A	X.37:g.151303347G>T	ENSP00000359347:p.Ala249Glu					MAGEA10_uc004ffl.2_Missense_Mutation_p.A249E	p.A249E	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	1154	-	Acute lymphoblastic leukemia(192;6.56e-05)		249			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.746C>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156045	0.38021	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.04970	3.52;3.52	2.6	-2.07	0.07276	.	2.805450	0.01628	N	0.023362	T	0.08891	0.0220	L	0.45698	1.435	0.09310	N	1	B	0.31680	0.335	B	0.37943	0.261	T	0.34153	-0.9840	10	0.35671	T	0.21	.	6.424	0.21760	0.7131:0.0:0.2869:0.0	.	249	P43363	MAGAA_HUMAN	E	249	ENSP00000359347:A249E;ENSP00000244096:A249E	ENSP00000244096:A249E	A	-	2	0	MAGEA10	151054003	0.000000	0.05858	0.000000	0.03702	0.895000	0.52256	-0.831000	0.04405	-0.596000	0.05821	0.292000	0.19580	GCA		PASS	0.512	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		67	98	67	98	---	---	---	---
GABRA3	2556	broad.mit.edu	37	X	151424346	151424346	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:151424346A>T	ENST00000370314.4	-	5	693	c.455T>A	c.(454-456)tTc>tAc	p.F152Y	GABRA3_ENST00000535043.1_Missense_Mutation_p.F152Y	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	152					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F42Y(1)|p.F152Y(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATTGTGGAAGAAGGTGTCCGG	0.488																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(454-456)TTC>TAC		gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						236.0	185.0	202.0					X																	151424346		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151424346A>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.455T>A	X.37:g.151424346A>T	ENSP00000359337:p.Phe152Tyr						p.F152Y	NM_000808	NP_000799	P34903	GBRA3_HUMAN			5	695	-	Acute lymphoblastic leukemia(192;6.56e-05)		152			Extracellular (Probable).		Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.455T>A	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.396398	0.83011	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043;ENST00000417858	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.39	5.39	0.77823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84624	0.5513	L	0.39898	1.24	0.58432	D	0.999997	D	0.62365	0.991	D	0.74023	0.982	D	0.86058	0.1530	10	0.87932	D	0	.	12.2186	0.54420	1.0:0.0:0.0:0.0	.	152	P34903	GBRA3_HUMAN	Y	152;152;152;42	ENSP00000359337:F152Y;ENSP00000359334:F152Y;ENSP00000443527:F152Y;ENSP00000413772:F42Y	ENSP00000359334:F152Y	F	-	2	0	GABRA3	151175002	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.281000	0.95811	1.790000	0.52503	0.437000	0.28790	TTC		PASS	0.488	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		110	153	110	153	---	---	---	---
GABRA3	2556	broad.mit.edu	37	X	151560708	151560708	+	Intron	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:151560708G>A	ENST00000370314.4	-	2	213				GABRA3_ENST00000535043.1_5'Flank|MIR767_ENST00000390228.1_RNA|MIR105-2_ENST00000385083.1_RNA|MIR105-1_ENST00000385222.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CGTAGCACATGCTCAAACATC	0.463																																					NSCLC(142;2578 2613 10251 16743)	hsa-mir-105-1|MI0000111																			0					0															87.0	72.0	76.0					X																	151560708		1568	3582	5150	SO:0001627	intron_variant	406897							g.chrX:151560708G>A		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.26-27640C>T	X.37:g.151560708G>A						GABRA3_uc010ntk.1_Intron|uc004ffo.2_RNA										-								Q8TAF9	RNA	SNP	ENST00000370314.4	37	c.64G>A	CCDS14706.1																																																																																				PASS	0.463	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		17	24	17	24	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151818344	151818344	+	Splice_Site	SNP	T	T	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:151818344T>A	ENST00000370306.2	+	6	768		c.e6+2			NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta						neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTACACAGGTGGGTCTGACC	0.512																																						uc004ffp.1																			1	Unknown(1)		lung(1)	ovary(2)|pancreas(1)	3						c.e6+2		gamma-aminobutyric acid (GABA) receptor, theta							174.0	127.0	143.0					X																	151818344		2203	4300	6503	SO:0001630	splice_region_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151818344T>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.748+2T>A	X.37:g.151818344T>A							p.G250_splice	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			6	768	+	Acute lymphoblastic leukemia(192;6.56e-05)							A6NFN1|Q32MB4|Q9NZK8	Splice_Site	SNP	ENST00000370306.2	37	c.748_splice	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.605024	0.87157	.	.	ENSG00000147402	ENST00000370306	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1308	0.59380	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GABRQ	151569000	1.000000	0.71417	0.940000	0.37924	0.949000	0.60115	4.687000	0.61708	2.009000	0.58944	0.486000	0.48141	.		PASS	0.512	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	Intron	73	130	73	130	---	---	---	---
TREX2	11219	broad.mit.edu	37	X	152710223	152710223	+	Silent	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:152710223G>A	ENST00000334497.2	-	11	1936	c.795C>T	c.(793-795)atC>atT	p.I265I	TREX2_ENST00000330912.2_Silent_p.I222I|TREX2_ENST00000370232.1_Silent_p.I265I|TREX2_ENST00000338525.2_Silent_p.I222I|TREX2_ENST00000414588.1_Silent_p.I264I|TREX2_ENST00000402951.1_Silent_p.I265I|TREX2_ENST00000393862.2_Silent_p.I222I|TREX2_ENST00000370231.2_Silent_p.I222I|HAUS7_ENST00000484394.1_5'Flank			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	265					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)	p.I265I(1)|p.I222I(1)		endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACATGGGCTCGATGTGGGCCC	0.687								Editing and processing nucleases																														uc010nue.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(790-792)ATC>ATT	Editing_and_processing_nucleases	three prime repair exonuclease 2							14.0	12.0	13.0					X																	152710223		2182	4270	6452	SO:0001819	synonymous_variant	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710223G>A	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.795C>T	X.37:g.152710223G>A						TREX2_uc010nud.1_Silent_p.I222I|TREX2_uc011myp.1_Silent_p.I222I|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	p.I264I	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN			3	908	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		265					Q45F08|Q9UN77	Silent	SNP	ENST00000334497.2	37	c.792C>T																																																																																					PASS	0.687	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		3	3	3	3	---	---	---	---
ABCD1	215	broad.mit.edu	37	X	153001941	153001941	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:153001941G>A	ENST00000218104.3	+	4	1766	c.1367G>A	c.(1366-1368)cGt>cAt	p.R456H	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	456					alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.R456H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGTGTCCGTGTGGAGGGC	0.632																																						uc004fif.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1366-1368)CGT>CAT		ATP-binding cassette, sub-family D (ALD), member							71.0	70.0	70.0					X																	153001941		2203	4299	6502	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153001941G>A	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1367G>A	X.37:g.153001941G>A	ENSP00000218104:p.Arg456His					ABCD1_uc004fig.2_5'Flank	p.R456H	NM_000033	NP_000024	P33897	ABCD1_HUMAN			4	1766	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		456					Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.1367G>A	CCDS14728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	1.884|1.884	-0.457147|-0.457147	0.04540|0.04540	.|.	.|.	ENSG00000101986|ENSG00000101986	ENST00000218104|ENST00000443684	D|.	0.94092|.	-3.35|.	4.7|4.7	-0.286|-0.286	0.12862|0.12862	.|.	0.704435|.	0.12945|.	N|.	0.426269|.	T|T	0.27205|0.27205	0.0667|0.0667	N|N	0.20807|0.20807	0.61|0.61	0.18873|0.18873	N|N	0.999988|0.999988	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.27536|0.27536	-1.0071|-1.0071	10|5	0.18276|.	T|.	0.48|.	-0.1774|-0.1774	8.8688|8.8688	0.35303|0.35303	0.4241:0.0:0.5759:0.0|0.4241:0.0:0.5759:0.0	.|.	456|.	P33897|.	ABCD1_HUMAN|.	H|M	456|124	ENSP00000218104:R456H|.	ENSP00000218104:R456H|.	R|V	+|+	2|1	0|0	ABCD1|ABCD1	152655135|152655135	0.918000|0.918000	0.31147|0.31147	0.001000|0.001000	0.08648|0.08648	0.009000|0.009000	0.06853|0.06853	1.609000|1.609000	0.36858|0.36858	-0.471000|-0.471000	0.06891|0.06891	-0.415000|-0.415000	0.06103|0.06103	CGT|GTG		PASS	0.632	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		22	34	22	34	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153582818	153582818	+	Silent	SNP	G	G	A			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:153582818G>A	ENST00000369850.3	-	33	5583	c.5347C>T	c.(5347-5349)Ctg>Ttg	p.L1783L	FLNA_ENST00000360319.4_Silent_p.L1775L|FLNA_ENST00000422373.1_Silent_p.L1775L|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000344736.4_Silent_p.L1743L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1783					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.L1783L(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCACATCCAGCCCATTGACA	0.622																																						uc004fkk.2																			1	Substitution - coding silent(1)		lung(1)	breast(6)	6						c.(5347-5349)CTG>TTG		filamin A, alpha isoform 2							39.0	39.0	39.0					X																	153582818		1995	4154	6149	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153582818G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5347C>T	X.37:g.153582818G>A						FLNA_uc004fki.2_5'Flank|FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Silent_p.L1775L	p.L1783L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			33	5596	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1783			Filamin 16.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.5347C>T	CCDS48194.1																																																																																				PASS	0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			26	33	26	33	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153697756	153697757	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:153697756_153697757CC>AA	ENST00000369682.3	+	27	4804_4805	c.4629_4630CC>AA	c.(4627-4632)ctCCag>ctAAag	p.Q1544K	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1544					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.Q1544K(2)|p.L1543L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATCATCCTCCAGGATGAGGA	0.609																																						uc004flm.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(4627-4629)CTC>CTA|c.(4630-4632)CAG>AAG		plexin A3 precursor																																				SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153697756C>A|g.chrX:153697757C>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	Exception_encountered	X.37:g.153697756_153697757delinsAA	ENSP00000358696:p.Gln1544Lys						p.L1543L|p.Q1544K	NM_017514	NP_059984	P51805	PLXA3_HUMAN			27	4802|4803	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1543|1544			Cytoplasmic (Potential).		Q5HY36	Silent|Missense_Mutation	SNP	ENST00000369682.3	37	c.4629C>A|c.4630C>A	CCDS14752.1																																																																																				PASS	0.609	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		58|55	72|71	55	71	---	---	---	---
F8	2157	broad.mit.edu	37	X	154250707	154250707	+	Missense_Mutation	SNP	C	C	A	rs137852379		TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:154250707C>A	ENST00000360256.4	-	1	321	c.121G>T	c.(121-123)Ggt>Tgt	p.G41C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	41	F5/8 type A 1.|Plastocyanin-like 1.		G -> C (in HEMA; severe/moderate).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.G41C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGCAGCTCACCGAGATCACTT	0.517																																						uc004fmt.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	GRCh37	CM010836	F8	M	rs137852379	c.(121-123)GGT>TGT		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						246.0	208.0	221.0					X																	154250707		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154250707C>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.121G>T	X.37:g.154250707C>A	ENSP00000353393:p.Gly41Cys					F8_uc011mzx.1_Intron	p.G41C	NM_000132	NP_000123	P00451	FA8_HUMAN			1	292	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		41		G -> C (in HEMA; severe/moderate).	Plastocyanin-like 1.|F5/8 type A 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.121G>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	7.526	0.657766	0.14645	.	.	ENSG00000185010	ENST00000360256;ENST00000453950	D;D	0.98958	-5.27;-5.27	4.69	-2.21	0.06973	Cupredoxin (2);	1.568880	0.03170	N	0.170653	D	0.97009	0.9023	L	0.34521	1.04	0.09310	N	1	D	0.59357	0.985	P	0.47470	0.548	D	0.93220	0.6608	10	0.56958	D	0.05	-0.18	10.0366	0.42133	0.0:0.1726:0.0:0.8274	.	41	P00451	FA8_HUMAN	C	41;35	ENSP00000353393:G41C;ENSP00000389153:G35C	ENSP00000353393:G41C	G	-	1	0	F8	153903901	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.839000	0.04368	-0.477000	0.06832	-0.465000	0.05216	GGT		PASS	0.517	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			128	193	128	193	---	---	---	---
LOC100288069	100288069	broad.mit.edu	37	1	700514	700514	+	lincRNA	DEL	A	A	-			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr1:700514delA	ENST00000428504.1	-	0	1039				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						actccatctcaaaaaaaaaaa	0.453																																						uc001abo.2																			0													Homo sapiens cDNA clone IMAGE:4129277, partial cds.																																						0							g.chr1:700514delA																													1.37:g.700514delA														7		-									RNA	DEL	ENST00000428504.1	37	c.1040delT																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			5	3	5	3	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530767	80530767	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:80530767delC	ENST00000295057.3	-	2	834	c.178delG	c.(178-180)gcgfs	p.A60fs	CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Frame_Shift_Del_p.A60fs|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	60	LRRNT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TTGTGGGGCGCCTCGGTGAGG	0.701										HNSCC(69;0.2)																												uc002sok.1																			0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(178-180)GCGfs		leucine rich repeat transmembrane neuronal 1							25.0	30.0	28.0					2																	80530767		2203	4299	6502	SO:0001589	frameshift_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530767delC	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.178delG	2.37:g.80530767delC	ENSP00000295057:p.Ala60fs	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.A60fs	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	448	-			60			LRRNT.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Frame_Shift_Del	DEL	ENST00000295057.3	37	c.178delG	CCDS1966.1																																																																																					0.701	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		50	26	50	26	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152529031	152529031	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr2:152529031delG	ENST00000172853.10	-	37	4298	c.4151delC	c.(4150-4152)cctfs	p.P1384fs	NEB_ENST00000397345.3_Frame_Shift_Del_p.P1384fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.P1384fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.P1384fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.P1384fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.P1384fs			P20929	NEBU_HUMAN	nebulin	1384					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.P1384H(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATGTCCCCAGGGGTATGGTA	0.468																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(4150-4152)CCTfs		nebulin isoform 3							159.0	154.0	155.0					2																	152529031		2017	4174	6191	SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152529031delG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4151delC	2.37:g.152529031delG	ENSP00000172853:p.Pro1384fs						p.P1384fs	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	37	4342	-			1384			Nebulin 35.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	37	c.4151delC																																																																																						0.468	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		128	78	128	78	---	---	---	---
SP4	6671	broad.mit.edu	37	7	21468304	21468306	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr7:21468304_21468306delAGG	ENST00000222584.3	+	2	235_237	c.17_19delAGG	c.(16-21)aaggag>aag	p.E11del		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	11	Poly-Glu.				regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GATCAGAAGAAGGAGGAGGAGGA	0.517																																						uc003sva.2																			0				ovary(3)|skin(2)	5						c.(16-21)AAGGAG>AAG		Sp4 transcription factor				36,4106		7,22,2042						4.5	1.0			20	54,8024		9,36,3994	no	coding	SP4	NM_003112.3		16,58,6036	A1A1,A1R,RR		0.6685,0.8691,0.7365				90,12130				SO:0001651	inframe_deletion	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21468304_21468306delAGG		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.17_19delAGG	7.37:g.21468313_21468315delAGG	ENSP00000222584:p.Glu11del					SP4_uc003svb.2_5'UTR	p.E11del	NM_003112	NP_003103	Q02446	SP4_HUMAN			2	198_200	+			11			Poly-Glu.		O60402|Q32M52	In_Frame_Del	DEL	ENST00000222584.3	37	c.17_19delAGG	CCDS5373.1																																																																																					0.517	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		4	2	4	2	---	---	---	---
NR1H4	9971	broad.mit.edu	37	12	100904587	100904587	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr12:100904587delG	ENST00000551379.1	+	2	169	c.141delG	c.(139-141)ctgfs	p.L47fs	NR1H4_ENST00000188403.7_Frame_Shift_Del_p.L47fs|NR1H4_ENST00000392986.3_Frame_Shift_Del_p.L37fs|NR1H4_ENST00000549996.1_Frame_Shift_Del_p.L37fs|NR1H4_ENST00000548884.1_Frame_Shift_Del_p.L37fs			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	47					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	CAGGTCCTCTGGGACAGAACC	0.438																																						uc001tht.1																			0				ovary(1)|lung(1)|skin(1)	3						c.(139-141)CTGfs		nuclear receptor subfamily 1, group H, member 4							60.0	56.0	57.0					12																	100904587		2203	4300	6503	SO:0001589	frameshift_variant	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100904587delG	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.141delG	12.37:g.100904587delG	ENSP00000447149:p.Leu47fs					NR1H4_uc001thp.1_Frame_Shift_Del_p.L37fs|NR1H4_uc001thq.1_Frame_Shift_Del_p.L37fs|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Frame_Shift_Del_p.L37fs|NR1H4_uc010svk.1_Frame_Shift_Del_p.L37fs|NR1H4_uc001ths.1_Frame_Shift_Del_p.L47fs	p.L47fs	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			2	169	+			47					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Frame_Shift_Del	DEL	ENST00000551379.1	37	c.141delG	CCDS55876.1																																																																																					0.438	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		53	31	53	31	---	---	---	---
LOC101929008	101929008	broad.mit.edu	37	16	90204189	90204190	+	lincRNA	INS	-	-	T	rs570138207	byFrequency	TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr16:90204189_90204190insT	ENST00000565965.1	-	0	235																											TCCCAAAGGAAttttttttttt	0.431													|||unknown(NO_COVERAGE)	32	0.00638978	0.0098	0.0115	5008	,	,		29146	0.0069		0.003	False		,,,				2504	0.001					uc002fqr.2																			0													Homo sapiens cDNA FLJ35239 fis, clone PROST2002212.																																						0							g.chr16:90204189_90204190insT																													16.37:g.90204200_90204200dupT														9		+									RNA	INS	ENST00000565965.1	37	c.1571_1572insT																																																																																						0.431	RP11-356C4.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420875.1			4	3	4	3	---	---	---	---
SERPINF1	5176	broad.mit.edu	37	17	1673345	1673346	+	Splice_Site	INS	-	-	TC			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr17:1673345_1673346insTC	ENST00000254722.4	+	3	446		c.e3+1		SERPINF1_ENST00000571870.1_Splice_Site	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1						aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CTCTCGCTGGGTGAGTGCTCAG	0.624																																						uc002ftl.2																			0				ovary(1)	1						c.e3+1		serine (or cysteine) proteinase inhibitor, clade																																				SO:0001630	splice_region_variant	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1673345_1673346insTC	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.283+1->TC	17.37:g.1673345_1673346insTC						SERPINF1_uc010cjw.2_Intron	p.G95_splice	NM_002615	NP_002606	P36955	PEDF_HUMAN			3	440	+								F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Splice_Site	INS	ENST00000254722.4	37	c.283_splice	CCDS11012.1																																																																																					0.624	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615	Intron	15	14	15	14	---	---	---	---
ZNF211	10520	broad.mit.edu	37	19	58153213	58153214	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chr19:58153213_58153214delTG	ENST00000347302.3	+	3	1538_1539	c.1359_1360delTG	c.(1357-1362)tatgtgfs	p.V454fs	ZNF211_ENST00000254182.7_Frame_Shift_Del_p.V445fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.V467fs|ZNF211_ENST00000299871.5_Frame_Shift_Del_p.V519fs|ZNF211_ENST00000544273.1_Frame_Shift_Del_p.V466fs|ZNF211_ENST00000391703.3_Frame_Shift_Del_p.V393fs|ZNF211_ENST00000541801.1_Frame_Shift_Del_p.V445fs|ZNF211_ENST00000420680.1_Frame_Shift_Del_p.V458fs	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGGCCTTATGTGTGTGGGGA	0.47																																						uc002qpq.2																			0				ovary(2)	2						c.(1357-1362)TATGTGfs		zinc finger protein 211 isoform 2																																				SO:0001589	frameshift_variant	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58153213_58153214delTG	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1359_1360delTG	19.37:g.58153219_58153220delTG	ENSP00000339562:p.Val454fs					ZNF211_uc010yhb.1_Frame_Shift_Del_p.Y457fs|ZNF211_uc002qpp.2_Frame_Shift_Del_p.Y466fs|ZNF211_uc002qpr.2_Frame_Shift_Del_p.Y517fs|ZNF211_uc002qps.2_Frame_Shift_Del_p.Y518fs|ZNF211_uc002qpt.2_Frame_Shift_Del_p.Y465fs|ZNF211_uc010yhc.1_Frame_Shift_Del_p.Y465fs|ZNF211_uc010yhd.1_Frame_Shift_Del_p.Y392fs|ZNF211_uc010yhe.1_Frame_Shift_Del_p.Y444fs	p.Y453fs	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1539_1540	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	453_454			C2H2-type 9.		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Frame_Shift_Del	DEL	ENST00000347302.3	37	c.1359_1360delTG	CCDS12957.1																																																																																					0.470	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			86	53	86	53	---	---	---	---
PGAM4	441531	broad.mit.edu	37	X	77224391	77224391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:77224391delG	ENST00000458128.1	-	1	744	c.745delC	c.(745-747)cagfs	p.Q249fs	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	249					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						GCCTTGCCCTGGGCAGCCACA	0.572																																						uc004ecy.1																			0					0						c.(745-747)CAGfs		bisphosphoglycerate mutase 4							44.0	41.0	42.0					X																	77224391		2203	4294	6497	SO:0001589	frameshift_variant	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224391delG	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.745delC	X.37:g.77224391delG	ENSP00000412189:p.Gln249fs					ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	p.Q249fs	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN			1	745	-			249					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Frame_Shift_Del	DEL	ENST00000458128.1	37	c.745delC	CCDS35338.1																																																																																					0.572	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		95	46	95	46	---	---	---	---
PNMA5	114824	broad.mit.edu	37	X	152159576	152159576	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2757-01A-01D-1522-08	TCGA-66-2757-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1886dba0-4662-4342-84ac-96af0beb2393	17ef241d-f6fa-4663-8d60-c0bd5931ac96	g.chrX:152159576delC	ENST00000439251.1	-	2	1005	c.567delG	c.(565-567)tggfs	p.W189fs	PNMA5_ENST00000535214.1_Frame_Shift_Del_p.W189fs|PNMA5_ENST00000452693.1_Frame_Shift_Del_p.W189fs|PNMA5_ENST00000361887.5_Frame_Shift_Del_p.W189fs	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	189					positive regulation of apoptotic process (GO:0043065)			p.W189*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CAGACACTTGCCATATGGGCA	0.532																																						uc010ntw.2																			1	Substitution - Nonsense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(565-567)TGGfs		paraneoplastic antigen like 5							84.0	72.0	76.0					X																	152159576		2203	4300	6503	SO:0001589	frameshift_variant	114824				apoptosis			g.chrX:152159576delC	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.567delG	X.37:g.152159576delC	ENSP00000388850:p.Trp189fs					PNMA5_uc004fha.3_Frame_Shift_Del_p.W189fs|PNMA5_uc010ntx.2_Frame_Shift_Del_p.W189fs|PNMA5_uc004fgy.3_Frame_Shift_Del_p.W189fs	p.W189fs	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN			3	906	-	Acute lymphoblastic leukemia(192;6.56e-05)		189					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Frame_Shift_Del	DEL	ENST00000439251.1	37	c.567delG	CCDS14718.1																																																																																					0.532	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		101	66	101	66	---	---	---	---
